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
MC3R	4159	broad.mit.edu	37	20	54824268	54824268	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr20:54824268G>A	uc002xxb.2	+	0	481	c.369G>A	c.(367-369)atG>atA	p.M123I		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	160					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCGACTCCATGATCTGCATCT	0.557000														95			55		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212014	131212014	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:131212014G>A	uc004ewn.3	-	11	2209	c.2031C>T	c.(2029-2031)atC>atT	p.I677I	FRMD7_uc022cdy.1_Silent_p.I557I|FRMD7_uc011muy.2_Silent_p.I662I	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	677					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AAGACAGGCGGATTCTGGCCA	0.403000														3			101		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985048	157985048	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:157985048G>A	uc003wno.3	-	4	641	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	PTPRN2_uc003wnp.3_Missense_Mutation_p.H157Y|PTPRN2_uc003wnq.3_Missense_Mutation_p.H174Y|PTPRN2_uc003wnr.3_Missense_Mutation_p.H136Y|PTPRN2_uc011kwa.2_Missense_Mutation_p.H197Y	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	174						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T173T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGCGCCGTATGGGTCCTGGCG	0.692000														65			45		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74973431	74973431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:74973431C>T	uc001xqa.3	-	26	4390	c.4003G>A	c.(4003-4005)Gag>Aag	p.E1335K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1335	Cys-rich.|EGF-like 15; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGAGAGATCTCGAAGCCCTGG	0.617000														30			11		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46602930	46602930	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:46602930C>T	uc002ruv.3	+	7	1498	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	330	PAC.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTACAACCCTCGCAACCTGCA	0.607000														2			93		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900620	151900620	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:151900620G>A	uc022chj.1	-	0	181	c.181C>T	c.(181-183)Cct>Tct	p.P61S	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.P61S|MAGEA12_uc022chi.1_Missense_Mutation_p.P61S|MAGEA12_uc004fgc.3_Missense_Mutation_p.P61S|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	61										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGGGGAGGACTTGGTGAC	0.597000														1			156		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121930112	121930112	+	Silent	SNP	G	A	A	rs148767782		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr9:121930112G>A	uc004bkc.2	-	7	1992	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	512					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGAAGGTGTCGAGGCGGATCT	0.562000														5			51		0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113676170	113676170	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:113676170G>A	uc002tij.3	+	4	483	c.441G>A	c.(439-441)aaG>aaA	p.K147K	IL37_uc002tim.3_Silent_p.K86K|IL37_uc002tik.3_Silent_p.K126K|IL37_uc002til.3_Silent_p.K107K|IL37_uc002tin.3_Silent_p.K121K	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	147					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						CTGCCCAAAAGGAATCAGCAC	0.527000														4			46		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12300330	12300330	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:12300330G>T	uc001rah.4	-	14	3509	c.3367C>A	c.(3367-3369)Ctc>Atc	p.L1123I	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.L1123I	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1123	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATTCGCCGGAGATCTGAATCA	0.408000														94			84		6.04572e-29	6.25028e-29	1	1	0
TMC5	79838	broad.mit.edu	37	16	19474666	19474666	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:19474666C>T	uc002dgc.4	+	6	1962	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*	TMC5_uc010vaq.2_Nonsense_Mutation_p.Q405*|TMC5_uc002dgb.4_Nonsense_Mutation_p.Q405*|TMC5_uc010var.2_Nonsense_Mutation_p.Q405*|TMC5_uc002dgd.1_Nonsense_Mutation_p.Q159*|TMC5_uc002dge.4_Nonsense_Mutation_p.Q159*|TMC5_uc002dgf.4_Nonsense_Mutation_p.Q88*|TMC5_uc002dgg.4_Nonsense_Mutation_p.Q46*	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	405						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTGCTGTATTCAGTGTCTGAA	0.453000														5			95		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119064809	119064809	+	Silent	SNP	A	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr4:119064809A>G	uc003ibx.3	+	5	1912	c.1509A>G	c.(1507-1509)ggA>ggG	p.G503G	NDST3_uc011cgf.1_Silent_p.G422G	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	503	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.G502R(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TCCAAGGAGGAGAACTTTTCT	0.423000														2			34		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57809031	57809031	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:57809031G>A	uc010bfw.3	+	9	2650	c.2457G>A	c.(2455-2457)ggG>ggA	p.G819G	CGNL1_uc002aeg.3_Silent_p.G819G	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	819						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACCAGGCGGGGACTGAAATGC	0.517000														18			25		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21069510	21069510	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:21069510C>T	uc010vbe.2	-	26	3821	c.3821G>A	c.(3820-3822)cGa>cAa	p.R1274Q		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1274	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAGTGATTTCGAGGGACCTG	0.507000														2			29		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9495492	9495492	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:9495492C>T	uc003brt.3	+	16	2851	c.2416C>T	c.(2416-2418)Cag>Tag	p.Q806*	SETD5_uc003brs.1_Nonsense_Mutation_p.Q787*|SETD5_uc003bru.3_Nonsense_Mutation_p.Q708*|SETD5_uc003brv.3_Nonsense_Mutation_p.Q695*|SETD5_uc010hck.3_Nonsense_Mutation_p.Q288*|SETD5_uc003brx.3_Nonsense_Mutation_p.Q475*	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	806										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GACTAGAACTCAGCACCTATA	0.373000														41			41		0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21134267	21134267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr22:21134267G>A	uc002ztc.2	+	0	754	c.751G>A	c.(751-753)Gac>Aac	p.D251N	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Missense_Mutation_p.D223N	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	223					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	GTCAGTCAATGACCTTTATAT	0.443000														24			71		0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407126	9407126	+	Silent	SNP	A	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:9407126A>G	uc002mlc.1	-	4	954	c.954T>C	c.(952-954)tgT>tgC	p.C318C		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGAGGAGGAACAACTGAAGG	0.418000														33			21		0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102661500	102661500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:102661500G>A	uc001phi.2	-	8	1377	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.P346S	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	412	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P412P(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		ATCATTTTGGGATAACCTGGA	0.363000														8			55		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190068053	190068053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:190068053C>T	uc001gse.1	-	7	1628	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	FAM5C_uc010pot.1_Missense_Mutation_p.G364S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	466						extracellular region		p.T465T(1)|p.T465S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGCATGTAGCCGGTGTTGCAG	0.597000														35			149		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143039185	143039185	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:143039185C>T	uc003wcr.1	+	14	1833	c.1746C>T	c.(1744-1746)atC>atT	p.I582I	CLCN1_uc011ktc.1_Silent_p.I194I	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	582					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACAGCATCATCCAGGTCAAGA	0.547000														60			58		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347528	91347528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:91347528C>T	uc001tbj.3	-	0	1426	c.992G>A	c.(991-993)gGa>gAa	p.G331E		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	331	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						ctcctcctctccctcctccac	0.547000														4			44		0	0	1	0	0
FOPNL	123811	broad.mit.edu	37	16	15978036	15978037	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:15978036_15978037CC>TT	uc002dec.1	-	1	59_60	c.54_55GG>AA	c.(52-57)aagggg>aaAAgg	p.G19R	FOPNL_uc002ded.1_Missense_Mutation_p.G19R	NM_144600	NP_653201	Q96NB1	FOPNL_HUMAN	Homo sapiens FGFR1OP N-terminal like (FOPNL), mRNA.	19	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding			breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						CCTAATACCCCCTTTTTTTCCA	0.376000														3			14		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145359169	145359169	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:145359169T>A	uc021oul.1	+	71	9144	c.9109T>A	c.(9109-9111)Ttg>Atg	p.L3037M	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3037								p.L3037M(14)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCGTGTTGGCTTGGCTGTTGA	0.458000														445			6		0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75562316	75562317	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr10:75562316_75562317CC>TT	uc001jvk.2	-	14	3348_3349	c.2544_2545GG>AA	c.(2542-2547)acggat>acAAat	p.D849N	NDST2_uc010qks.1_Missense_Mutation_p.D475N|NDST2_uc010qkt.1_Missense_Mutation_p.D726N|NDST2_uc001jvl.1_3'UTR	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	849	Heparan sulfate N-sulfotransferase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CGGAAAAAATCCGTAAGGAAAA	0.520000														2			28		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229252	21229252	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:21229252G>A	uc002red.3	-	25	10616	c.10488C>T	c.(10486-10488)acC>acT	p.T3496T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3496	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATCTCCTTTGGTAGATGACT	0.438000														9			88		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226549185	226549185	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:226549185G>A	uc001hqd.4	-	22	3192	c.3021C>T	c.(3019-3021)ttC>ttT	p.F1007F		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	1007	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCTTAAAATTGAATTTCAGTT	0.473000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						10			54		0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715365	68715365	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:68715365C>T	uc003jwq.3	+	1	227	c.153C>T	c.(151-153)ctC>ctT	p.L51L	MARVELD2_uc010ixf.3_Silent_p.L51L|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	51	Poly-Pro.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CACCCCCTCTCCCATTACAGC	0.542000														10			50		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524205	24524205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr20:24524205G>A	uc002wtw.1	+	1	1105	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	158					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GGAGTTCCAGGAGCTGGAGGT	0.532000														210			59		0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117383244	117383244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:117383244C>T	uc001twg.1	+	2	581	c.499C>T	c.(499-501)Ccg>Tcg	p.P167S	FBXW8_uc001twf.1_Missense_Mutation_p.P101S	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	167							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		AGGGCACCTTCCGGATAGCAG	0.522000														1			47		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47045856	47045856	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:47045856G>A	uc003cqp.3	+	36	6350	c.6171G>A	c.(6169-6171)gaG>gaA	p.E2057E	NBEAL2_uc010hjm.2_Silent_p.E1434E|NBEAL2_uc010hjn.2_Silent_p.E453E	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2057	BEACH.						binding	p.A2057T(1)		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)		CCCCCCAGGAGATGCTGCGTG	0.652000														24			41		0	0	1	0	0
APCDD1	147495	broad.mit.edu	37	18	10471920	10471921	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr18:10471920_10471921CC>TT	uc002kom.4	+	2	990_991	c.636_637CC>TT	c.(634-639)atccgg>atTTgg	p.R213W		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	213					Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	p.R213Q(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TTCAGCTCATCCGGGTGGAGAA	0.574000														155			204		0	0	1	0	0
ZNF547	284306	broad.mit.edu	37	19	57883188	57883188	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:57883188C>T	uc002qol.3	+	2	268	c.63C>T	c.(61-63)tcC>tcT	p.S21S		NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	Homo sapiens zinc finger protein 547 (ZNF547), mRNA.	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATATTTCTCCCAGGAGGAGT	0.463000														67			95		0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5642312	5642312	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr4:5642312C>T	uc003gij.3	-	9	1453	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	EVC2_uc003gik.3_Missense_Mutation_p.E387K|EVC2_uc011bwb.2_5'UTR	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	467						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TACTGGTTTTCCATCTTCTTT	0.453000														80			217		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83361376	83361376	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:83361376C>T	uc004eej.2	-	14	1398	c.1362G>A	c.(1360-1362)gtG>gtA	p.V454V	RPS6KA6_uc011mqt.2_Silent_p.V454V|RPS6KA6_uc011mqu.2_Silent_p.V351V	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	454	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ACAATACCTTCACTGCAAATT	0.363000														0			24		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345224	20345224	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:20345224C>T	uc001vwh.1	+	0	798	c.798C>T	c.(796-798)ctC>ctT	p.L266L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCAGCTTTCTCACAGACAAGA	0.403000														45			14		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108754262	108754262	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:108754262C>T	uc003dxl.3	-	14	1471	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	MORC1_uc011bhn.2_Missense_Mutation_p.D462N	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	462			D -> E (in dbSNP:rs3762696).		cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCTCCACATCGATGTCATTC	0.289000														20			17		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298845	107298845	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr9:107298845G>A	uc004bcb.1	-	0	250	c.250C>T	c.(250-252)Cat>Tat	p.H84Y		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GTGTGAAAATGAGAATCAAAG	0.403000														6			59		0	0	1	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20304910	20304910	+	Missense_Mutation	SNP	C	T	T	rs142941380		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:20304910C>T	uc001bcu.3	-	2	366	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	PLA2G2A_uc001bcv.3_Missense_Mutation_p.V50M|PLA2G2A_uc010oda.2_Missense_Mutation_p.V50M|PLA2G2A_uc010odb.2_Missense_Mutation_p.V50M	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN	Homo sapiens phospholipase A2, group IIA (platelets, synovial fluid) (PLA2G2A), transcript variant 4, mRNA.	50					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCACCCACGCCACAGTGG	0.582000														9			23		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40054016	40054016	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr20:40054016G>T	uc002xka.1	-	28	4326	c.4148C>A	c.(4147-4149)cCa>cAa	p.P1383Q		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1383					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGATTTGTCTGGGTCGGAGCC	0.488000														27			39		8.69298e-16	8.85396e-16	1	1	0
BCL11A	53335	broad.mit.edu	37	2	60687718	60687718	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:60687718A>G	uc002sae.1	-	3	2557	c.2329T>C	c.(2329-2331)Tat>Cat	p.Y777H	BCL11A_uc002sab.3_Intron|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.Y743H|BCL11A_uc002sad.1_Missense_Mutation_p.Y625H|BCL11A_uc002saf.1_Missense_Mutation_p.Y743H	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	777					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GCACAGGCATAGTTGCACAGC	0.483000			T	IGH@	B-CLL									110			53		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	375960	375960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:375960C>T	uc002lol.3	-	0	54	c.11G>A	c.(10-12)aGc>aAc	p.S4N	THEG_uc002lom.3_Missense_Mutation_p.S4N	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	4					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCTTCGCCTGCTGTCCCCCAT	0.682000														24			9		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62455986	62455986	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:62455986G>A	uc001dab.3	+	27	3931	c.3817G>A	c.(3817-3819)Gga>Aga	p.G1273R	INADL_uc009waf.1_Missense_Mutation_p.G1273R|INADL_uc001daa.2_Missense_Mutation_p.G1273R|INADL_uc001dad.3_Missense_Mutation_p.G970R|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.G57R|INADL_uc009wag.3_Missense_Mutation_p.G57R|INADL_uc010oou.1_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1273	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TAACCCGGAAGGACCTGCTGC	0.438000														18			71		0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144507863	144507863	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr6:144507863C>T	uc003qks.4	+	1	291	c.99C>T	c.(97-99)atC>atT	p.I33I	STX11_uc021zgk.1_Silent_p.I33I	NM_003764	NP_003755	O75558	STX11_HUMAN	Homo sapiens syntaxin 11 (STX11), mRNA.	33					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ACGAGGACATCGTGTTCGAGA	0.557000									Familial Hemophagocytic Lymphohistiocytosis					5			19		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046551	73046551	+	RNA	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:73046551C>T	uc004ebn.2	+	0		c.34512C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CCTCCAGATTCCGGCCGTTAG	0.502000														2			153		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	82070612	82070612	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:82070612G>A	uc001szo.2	-	3	422	c.261C>T	c.(259-261)tcC>tcT	p.S87S	PPFIA2_uc021rbi.1_Silent_p.S87S|PPFIA2_uc021rbj.1_Silent_p.S87S|PPFIA2_uc021rbk.1_Intron|PPFIA2_uc021rbl.1_Silent_p.S87S	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	345										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTCCTGTTAGGGATTCGATAT	0.423000														3			20		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54913067	54913067	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:54913067G>A	uc003dhf.3	+	18	1781	c.1733G>A	c.(1732-1734)cGa>cAa	p.R578Q	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.R484Q|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.R312Q|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	578						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.R578Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ATGGTGAATCGAAAGACGGGG	0.393000														18			10		0	0	1	0	0
FGF17	8822	broad.mit.edu	37	8	21904051	21904051	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:21904051G>A	uc003xai.3	+	1	1634	c.333G>A	c.(331-333)gtG>gtA	p.V111V	FGF17_uc003xag.3_Silent_p.V88V|FGF17_uc003xah.3_Silent_p.V77V	NM_003867	NP_003858	O60258	FGF17_HUMAN	Homo sapiens fibroblast growth factor 17 (FGF17), mRNA.	88					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AGCTCATAGTGGAGACGGACA	0.602000														21			67		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34192778	34192778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:34192778G>A	uc011kap.2	+	15	2325	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	651	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAACTGGAATGAAATTGGTCC	0.517000														129			159		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	G	G	rs146714035	by1000genomes	TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000														98			5		0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45931560	45931560	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:45931560C>T	uc003tnp.3	+	2	842	c.549C>T	c.(547-549)gtC>gtT	p.V183V		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	183	Thyroglobulin type-1.		V -> I (in dbSNP:rs1065782).			extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TCTACAGAGTCGTAGAGAGTT	0.413000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			36		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	A	A	rs77484671		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000														69			6		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61767069	61767069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:61767069C>T	uc003xue.3	+	31	7415	c.6923C>T	c.(6922-6924)tCg>tTg	p.S2308L	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2308					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity	p.S2308S(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTTGCCTTCTCGTTTTGGCCT	0.423000														2			96		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50453359	50453359	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:50453359C>T	uc010ybh.2	-	10	2056	c.1965G>A	c.(1963-1965)tgG>tgA	p.W655*	SIGLEC11_uc010ybi.2_Nonsense_Mutation_p.W559*	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	655					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CCGCAGGCTCCCAGAGCCTCA	0.657000														15			17		0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44740025	44740025	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:44740025T>A	uc002oyu.3	+	5	1647	c.1442T>A	c.(1441-1443)aTt>aAt	p.I481N	ZNF227_uc010xwu.2_Missense_Mutation_p.I430N|ZNF227_uc002oyv.3_Missense_Mutation_p.I481N|ZNF227_uc010xwv.2_Missense_Mutation_p.I430N|ZNF227_uc010xww.2_Missense_Mutation_p.I402N|ZNF227_uc002oyw.3_Missense_Mutation_p.I453N|ZNF227_uc010ejh.3_Missense_Mutation_p.I474N|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	Homo sapiens zinc finger protein 227 (ZNF227), mRNA.	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GATCTGCATATTCATTTCAGA	0.448000														33			46		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3030140	3030140	+	Silent	SNP	A	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:3030140A>T	uc003bpc.3	+	13	1809	c.1470A>T	c.(1468-1470)ggA>ggT	p.G490G	CNTN4_uc003bpb.1_Silent_p.G162G|CNTN4_uc021wsg.1_Silent_p.G490G|CNTN4_uc003bpd.1_Silent_p.G490G|CNTN4_uc003bpe.3_Silent_p.G162G|CNTN4_uc003bpf.3_Silent_p.G162G	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	490	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCAGTACTGGAAACTTGGTAG	0.388000														38			26		0	0	1	0	0
VTRNA2-1	100126299	broad.mit.edu	37	5	135416251	135416251	+	RNA	SNP	G	C	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:135416251G>C	uc021ydy.1	-	0		c.36C>G								Homo sapiens vault RNA 2-1 (VTRNA2-1), vault RNA.																		AGAAAGTCCGGCATGAGGAGG	0.512000														2			41		0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010772	78010772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:78010772C>T	uc022bzj.1	+	0	406	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	LPAR4_uc010nme.3_Missense_Mutation_p.R136C	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	136						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TAGTGTGGATCGTTTCCTGGC	0.483000														2			130		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111617273	111617273	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:111617273C>T	uc003vfy.3	-	7	884	c.615G>A	c.(613-615)caG>caA	p.Q205Q	DOCK4_uc003vfx.3_Silent_p.Q205Q|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.Q205Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	205					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGCTCTTCATCTGGACAAAGA	0.522000														20			22		0	0	1	0	0
ZBTB5	9925	broad.mit.edu	37	9	37441866	37441866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr9:37441866G>A	uc022bgv.1	-	0	683	c.683C>T	c.(682-684)tCt>tTt	p.S228F	ZBTB5_uc003zzx.3_Missense_Mutation_p.S228F	NM_014872	NP_055687	O15062	ZBTB5_HUMAN	Homo sapiens zinc finger and BTB domain containing 5 (ZBTB5), mRNA.	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CTCCTCCCGAGAATGAACCCC	0.493000														7			150		0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58007258	58007258	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:58007258G>A	uc001spb.3	+	3	904	c.444G>A	c.(442-444)gaG>gaA	p.E148E	ARHGEF25_uc009zpy.3_Silent_p.E187E|ARHGEF25_uc001soz.1_Silent_p.E22E|ARHGEF25_uc001spa.3_Silent_p.E42E|BC073932_uc001spc.3_Non-coding_Transcript	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.	148					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	p.E148Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AAGCCCCTGAGAGTGAGGAGG	0.527000														7			92		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95677189	95677189	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:95677189C>T	uc003ygq.4	+	7	973	c.790C>T	c.(790-792)Cga>Tga	p.R264*	ESRP1_uc003ygr.4_Nonsense_Mutation_p.R264*|ESRP1_uc003ygs.4_Nonsense_Mutation_p.R264*|ESRP1_uc003ygt.4_Nonsense_Mutation_p.R264*|ESRP1_uc003ygu.4_Nonsense_Mutation_p.R264*|ESRP1_uc003ygv.3_Nonsense_Mutation_p.R104*|ESRP1_uc003ygw.3_Nonsense_Mutation_p.R104*	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	264	RRM 1.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGCTCAGGGTCGAAGGAACGG	0.443000														68			142		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50489786	50489786	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:50489786G>A	uc001zxw.3	+	1	800	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	SLC27A2_uc010bes.3_Missense_Mutation_p.G190R|SLC27A2_uc001zxx.3_5'UTR	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	190					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TAACACAGATGGGATTGACTC	0.403000														25			39		0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74836781	74836781	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:74836781C>T	uc002aye.3	+	1	705	c.504C>T	c.(502-504)gtC>gtT	p.V168V	ARID3B_uc002ayc.3_Silent_p.V168V|ARID3B_uc002ayd.3_Silent_p.V168V	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CACCTTCTGTCTCCACAGCAG	0.517000														57			14		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9057316	9057316	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:9057316G>A	uc003brf.1	-	14	2454	c.1778C>T	c.(1777-1779)cCt>cTt	p.P593L	SRGAP3_uc003brg.1_Missense_Mutation_p.P569L|SRGAP3_uc003bri.1_Non-coding_Transcript	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	593	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCTTTCCTTAGGAAAGAGTGG	0.393000			T	RAF1	pilocytic astrocytoma									29			43		0	0	1	0	0
B3GNT8	374907	broad.mit.edu	37	19	41931804	41931804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:41931804C>T	uc002oqs.3	-	2	1334	c.880G>A	c.(880-882)Gag>Aag	p.E294K	B3GNT8_uc002oqt.1_Intron|B3GNT8_uc021uuy.1_Missense_Mutation_p.E294K	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 (B3GNT8), mRNA.	294					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						AAGAAGGACTCGGGCACATAG	0.677000														31			11		0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79940872	79940872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:79940872G>A	uc001vkz.2	-	6	1045	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	RBM26_uc001vky.2_Missense_Mutation_p.P344L|RBM26_uc001vla.2_Missense_Mutation_p.P344L|RBM26_uc001vkx.2_Missense_Mutation_p.P56L|RBM26_uc001vlb.1_Non-coding_Transcript	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	344	Pro-rich.				mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGGGAGTCCAGGAGGAGGTGG	0.547000														53			20		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114158660	114158660	+	Splice_Site	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr10:114158660G>A	uc001kzu.3	+	3	437	c.325_splice	c.e3-1	p.G109_splice	ACSL5_uc001kzs.3_Splice_Site_p.G53_splice|ACSL5_uc001kzt.3_Splice_Site_p.G53_splice|ACSL5_uc009xxz.3_Splice_Site_p.G53_splice	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	53					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GTGTCTTAGGGAGGAGCACGG	0.438000														4			47		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140406896	140406896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:140406896C>T	uc003eto.2	+	2	1578	c.1372C>T	c.(1372-1374)Cag>Tag	p.Q458*		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	458	COS.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGACGGCATCCAGACCACCTA	0.572000														35			9		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17166820	17166820	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:17166820C>T	uc003wxm.3	-	9	1356	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	MTMR7_uc003wxn.3_Missense_Mutation_p.D152N|MTMR7_uc011kya.2_Missense_Mutation_p.D7N|MTMR7_uc011kyb.2_Intron	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	373	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GAAATCCAGTCCTTTTCAATT	0.308000														8			28		0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59225614	59225615	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:59225614_59225615GG>AA	uc002afp.3	-	0	238_239	c.150_151CC>TT	c.(148-153)tcccga>tcTTga	p.R51*	SLTM_uc002afo.3_Nonsense_Mutation_p.R51*|SLTM_uc002afq.3_5'UTR|SLTM_uc010bgd.3_5'UTR|SLTM_uc002afr.1_Nonsense_Mutation_p.R51*	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	51	SAP.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCTTGAGTCGGGAGATGAGCA	0.644000														27			10		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035969	36035969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:36035969G>A	uc003jjz.2	-	6	1535	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V	UGT3A2_uc011cos.2_Missense_Mutation_p.A434V|UGT3A2_uc011cot.2_Missense_Mutation_p.A166V	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	468						integral to membrane	glucuronosyltransferase activity	p.A468T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGGTGCGTCGCGCCCCCTGT	0.632000														106			23		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204985602	204985602	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:204985602G>A	uc010prc.2	+	26	3687	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K	NFASC_uc001hbj.3_Missense_Mutation_p.E1220K|NFASC_uc010pra.2_Missense_Mutation_p.E1154K|NFASC_uc001hbi.3_Missense_Mutation_p.E1149K|NFASC_uc010prb.2_Missense_Mutation_p.E1169K|NFASC_uc001hbl.2_Missense_Mutation_p.E296K|NFASC_uc001hbm.2_Missense_Mutation_p.E243K|NFASC_uc009xbh.2_Silent_p.R74R|NFASC_uc001hbo.2_Silent_p.R95R			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	1327	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGACAAGGAGGAAACAGAGGG	0.567000														121			16		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239171671	239171671	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:239171671G>A	uc002vyc.3	-	9	1312	c.1075C>T	c.(1075-1077)Cag>Tag	p.Q359*	PER2_uc010znv.1_Nonsense_Mutation_p.Q359*|PER2_uc010znw.1_Nonsense_Mutation_p.Q359*|PER2_uc010fyx.1_Intron	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	359	PAS 2.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		ATCAGGTCCTGAGGTAGGTAG	0.537000											OREG0015337	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1			19		0	0	1	0	0
HPCA	3208	broad.mit.edu	37	1	33354560	33354560	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:33354560G>A	uc001bwh.3	+	1	101	c.61G>A	c.(61-63)Gag>Aag	p.E21K		NM_002143	NP_002134	P84074	HPCA_HUMAN	Homo sapiens hippocalcin (HPCA), mRNA.	21			E -> D (in dbSNP:rs11554958).				actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AGAGAACACAGAGTTCTCAGA	0.587000														18			88		0	0	1	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31525421	31525421	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr6:31525421C>T	uc003nub.3	+	2	470	c.351C>T	c.(349-351)ttC>ttT	p.F117F	NFKBIL1_uc011dnr.2_Silent_p.F94F|NFKBIL1_uc011dns.2_Silent_p.F94F|NFKBIL1_uc011dnt.1_Non-coding_Transcript|NFKBIL1_uc003nuc.3_Silent_p.F117F	NM_005007	NP_001138434	Q9UBC1	IKBL1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.	117					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CCGATTTCTTCCTCCCGCTGC	0.582000														3			52		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118344861	118344861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:118344861C>T	uc001pta.3	+	2	3010	c.2987C>T	c.(2986-2988)tCt>tTt	p.S996F	MLL_uc001ptb.3_Missense_Mutation_p.S996F|MLL_uc001psz.1_Missense_Mutation_p.S1029F|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	996					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ACTCCTTCATCTAGCACTGTT	0.498000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									1			53		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48244916	48244916	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:48244916C>T	uc002eff.1	-	9	1901	c.1551G>A	c.(1549-1551)gaG>gaA	p.E517E	ABCC11_uc002efg.1_Silent_p.E517E|ABCC11_uc002efh.1_Silent_p.E517E|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	517	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCCCTTCTTCCTCTGGCCCGA	0.617000														4			25		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94772502	94772502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:94772502C>T	uc001ycv.3	-	3	1042	c.938G>A	c.(937-939)gGa>gAa	p.G313E	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	313					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CAGCACATCTCCGAGGTCATA	0.527000														13			22		0	0	1	0	0
KCTD9	54793	broad.mit.edu	37	8	25287476	25287476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:25287476G>A	uc003xeo.3	-	11	1289	c.1067C>T	c.(1066-1068)tCt>tTt	p.S356F	DOCK5_uc003xek.3_Intron|KCTD9_uc011lad.2_Non-coding_Transcript	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA.	356	Pentapeptide repeat 3.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		ATCACACCCAGACAGATCACA	0.408000														126			16		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71193335	71193335	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:71193335C>T	uc010ukf.2	+	3	589	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F	LRRC49_uc002asu.3_Missense_Mutation_p.L80F|LRRC49_uc002asx.3_Missense_Mutation_p.L46F|LRRC49_uc002asw.3_Missense_Mutation_p.L90F|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_Missense_Mutation_p.L62F	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	90						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGAGAAAATTCTTTACTCAGA	0.318000														31			20		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773813	140773813	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:140773813A>G	uc003lkd.2	+	0	2331	c.1433A>G	c.(1432-1434)gAc>gGc	p.D478G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.D478G|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	480	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCACACGACCCCGACAGC	0.547000														1			23		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94741786	94741786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:94741786C>T	uc001ycs.1	+	23	2679	c.2525C>T	c.(2524-2526)tCc>tTc	p.S842F		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	842						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.S842F(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCGAGTACTTCCCGTGGGACA	0.448000														59			26		0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31234080	31234080	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:31234080C>T	uc001zfh.1	-	15	2025	c.1927G>A	c.(1927-1929)Ggt>Agt	p.G643S	FAN1_uc001zff.3_3'UTR|FAN1_uc001zfe.3_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.G57S|MTMR10_uc001zfg.1_Missense_Mutation_p.G224S|MTMR10_uc010azx.1_Missense_Mutation_p.G395S|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	Homo sapiens myotubularin related protein 10 (MTMR10), mRNA.	643	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		AGAATAACACCGTGCAGGTTG	0.507000														77			58		0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3452367	3452368	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:3452367_3452368GG>AA	uc002cvc.3	+	0	1178_1179	c.363_364GG>AA	c.(361-366)gtggaa>gtAAaa	p.E122K	ZNF434_uc002cux.4_5'Flank|ZNF434_uc010uwx.2_5'Flank|ZNF434_uc002cuy.4_5'Flank|ZNF434_uc002cuz.3_5'Flank|ZNF434_uc010uwy.1_5'Flank|ZNF434_uc010uxa.1_5'Flank|ZNF174_uc002cva.2_Missense_Mutation_p.E122K|ZNF174_uc002cvb.3_Missense_Mutation_p.E122K	NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	122	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TGACCCTCGTGGAAGATTTTCA	0.485000														136			111		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529439	5529439	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:5529439A>C	uc021qcw.1	-	0	1350	c.1350T>G	c.(1348-1350)gaT>gaG	p.D450E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.D450E	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	450								p.D450Y(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTGGCAGAATCTCCCAGCC	0.542000														2			57		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086328	56086328	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:56086328C>T	uc010rjf.2	+	0	546	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GTGACAGTCTCCCTTTGTTAC	0.333000														6			29		0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26620817	26620817	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:26620817G>A	uc001blw.3	-	8	711	c.438C>T	c.(436-438)ttC>ttT	p.F146F	UBXN11_uc001bly.3_Intron|UBXN11_uc001blz.1_Silent_p.F113F|UBXN11_uc001blx.3_Intron|UBXN11_uc001bma.3_Silent_p.F113F|UBXN11_uc010ofb.1_Silent_p.F71F|UBXN11_uc010ofc.1_5'UTR	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	146						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						AGTCACTGAGGAACCGCTGTG	0.622000														27			59		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56297152	56297152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:56297152C>T	uc010ygf.2	-	11	3652	c.2941G>A	c.(2941-2943)Gaa>Aaa	p.E981K	NLRP11_uc002qlz.3_Missense_Mutation_p.E828K|NLRP11_uc002qmb.3_Missense_Mutation_p.E882K|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	981							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GACCAAGTTTCAGACAGAAAG	0.398000														33			11		0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132437080	132437080	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:132437080C>T	uc004exc.1	-	8	1698	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	GPC4_uc011mvg.1_Missense_Mutation_p.E426K	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	496					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CCACTTCCTTCTCCACTACTT	0.418000														297			6		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93499706	93499706	+	Silent	SNP	T	C	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:93499706T>C	uc002bsp.3	+	15	2402	c.1827T>C	c.(1825-1827)atT>atC	p.I609I	CHD2_uc002bso.1_Silent_p.I609I	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	609	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGGGCAGTATTAACTGGGCCT	0.418000														58			42		0	0	1	0	0
ZNF410	57862	broad.mit.edu	37	14	74364841	74364841	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:74364841C>T	uc010arz.2	+	5	957	c.507C>T	c.(505-507)ttC>ttT	p.F169F	ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010ary.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_5'UTR|ZNF410_uc001xoz.2_Silent_p.F152F|ZNF410_uc001xpb.2_Silent_p.F152F|ZNF410_uc010tug.2_5'UTR|ZNF410_uc010tuh.2_Silent_p.F79F|ZNF410_uc010tuj.2_5'UTR	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN	Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GGAATGATTTCCTCTCCAGTG	0.463000														49			30		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7700520	7700520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:7700520C>T	uc001aoi.3	+	6	778	c.571C>T	c.(571-573)Cct>Tct	p.P191S		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGCGGCAAGCCTTGCGGCCC	0.597000			T	WWTR1	epitheliod hemangioendothelioma									156			14		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7026079	7026079	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr18:7026079G>A	uc002knm.3	-	16	2395	c.2301C>T	c.(2299-2301)gtC>gtT	p.V767V	LAMA1_uc010wzj.2_Silent_p.V243V	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	767	Laminin EGF-like 6.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G766S(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTCACAGTGGACGCCGGTGG	0.557000														9			20		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195492214	195492214	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:195492214G>A	uc021xjp.1	-	8	13881	c.13725C>T	c.(13723-13725)ggC>ggT	p.G4575G	MUC4_uc003fuz.3_Silent_p.G173G|MUC4_uc003fva.3_Silent_p.G55G|MUC4_uc003fvb.3_Silent_p.G91G|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Silent_p.G91G|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Silent_p.G84G|MUC4_uc021xjn.1_Silent_p.G264G|MUC4_uc021xjo.1_Silent_p.G55G|MUC4_uc021xjg.1_Silent_p.G55G|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Silent_p.G139G|MUC4_uc021xjj.1_Silent_p.G139G|MUC4_uc021xjk.1_Silent_p.G316G|MUC4_uc021xjl.1_Silent_p.G55G|MUC4_uc003fvo.3_Silent_p.G339G|MUC4_uc003fvp.3_Silent_p.G288G	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1332					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGGTTCCAGCCCCAGCTGG	0.622000														27			26		0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145151092	145151093	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:145151092_145151093CC>TT	uc003zaz.4	+	2	435_436	c.392_393CC>TT	c.(391-393)gcc>gTT	p.A131V	CYC1_uc003zay.3_Missense_Mutation_p.A72V	NM_001916	NP_001907	P08574	CY1_HUMAN	Homo sapiens cytochrome c-1 (CYC1), nuclear gene encoding mitochondrial protein, mRNA.	131	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACTTCGTGGCCTACCGCCACC	0.619000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		124			308		0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21217491	21217491	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr17:21217491G>A	uc002gys.3	+	11	1258	c.993G>A	c.(991-993)aaG>aaA	p.K331K	MAP2K3_uc002gyt.3_Silent_p.K302K|MAP2K3_uc021tsq.1_Silent_p.K302K|MAP2K3_uc021tsr.1_Silent_p.K302K	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	331					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|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|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ACAAAACCAAGAAGACGGACA	0.622000														261			135		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71978208	71978208	+	Silent	SNP	G	A	A	rs151206916		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:71978208G>A	uc001swl.3	+	17	2466	c.2418G>A	c.(2416-2418)ctG>ctA	p.L806L	LGR5_uc001swm.3_Silent_p.L782L|LGR5_uc021rar.1_Silent_p.L734L|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	806						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTATCCTTCTGGTGGTAGTCC	0.433000														6			59		0	0	1	0	0
FAM115A	9747	broad.mit.edu	37	7	143573381	143573381	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:143573381G>A	uc003wdo.2	-	1	454	c.321C>T	c.(319-321)ggC>ggT	p.G107G	FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Silent_p.G107G	NM_014719	NP_001193870	Q9Y4C2	F115A_HUMAN	Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA.	107										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					CCACTCCAGAGCCCTCGAGGA	0.537000														72			97		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34310700	34310700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr18:34310700C>T	uc021uiv.1	+	19	3606	c.3509C>T	c.(3508-3510)cCt>cTt	p.P1170L	FHOD3_uc002kzs.1_Missense_Mutation_p.P995L|FHOD3_uc002kzt.1_Missense_Mutation_p.P978L|FHOD3_uc010dmz.1_Missense_Mutation_p.P710L|FHOD3_uc010dnb.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	978	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S1170*(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GTGCTGCCCCCTCCAAGGACG	0.413000														44			48		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208495	106208495	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:106208495C>T	uc001yse.3	-	3	449	c.3G>A	c.(1-3)atG>atA	p.M1I	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		TCCGGGAGATCATGAGGGTGT	0.602000														63			27		0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109369912	109369912	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:109369912C>T	uc001dwa.3	-	10	2120	c.1851G>A	c.(1849-1851)gtG>gtA	p.V617V	AKNAD1_uc010ovb.2_Silent_p.V324V|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	617								p.V617M(1)|p.N616K(1)|p.N616Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CCTTTTTCTCCACGTTTTGCT	0.383000														42			172		0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36462323	36462323	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:36462323A>G	uc003tff.3	+	13	2585	c.2381A>G	c.(2380-2382)cAa>cGa	p.Q794R	ANLN_uc011kaz.2_Missense_Mutation_p.Q706R|ANLN_uc003tfg.3_Missense_Mutation_p.Q757R|ANLN_uc010kxe.3_Missense_Mutation_p.Q756R	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	794	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCTAGTCCCCAAAGTGAATTT	0.398000														93			118		0	0	1	0	0
CSAG1	158511	broad.mit.edu	37	X	151909142	151909142	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:151909142C>T	uc004fge.3	+	4	499	c.171C>T	c.(169-171)ttC>ttT	p.F57F	CSAG1_uc004fgf.3_Silent_p.F57F|CSAG1_uc004fgd.3_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA.	57										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCAGGTTCCCAAGACAAC	0.512000														4			114		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	136770	136770	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrGL000209.1:136770C>T	uc002quo.2	+	3	576	c.557C>T	c.(556-558)cCt>cTt	p.P186L	KIR2DL2_uc021vdc.1_Missense_Mutation_p.P186L|KIR2DL2_uc021vdd.1_Missense_Mutation_p.P186L|KIR2DL2_uc010evk.1_Missense_Mutation_p.P86L|KIR2DL2_uc010evl.1_Intron|KIR2DL2_uc002qun.2_Missense_Mutation_p.P186L	NM_012312	NP_036444	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 (KIR2DS2), mRNA.	186	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GCCGACTTTCCTCTGGGCCCT	0.562000														7			32		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101597174	101597174	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:101597174G>A	uc002bwr.3	+	27	4765	c.4446G>A	c.(4444-4446)ccG>ccA	p.P1482P	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1482	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCATCCGCCCGGTTCTGGGGC	0.612000														128			24		0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698383	111698383	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:111698383G>A	uc022cct.1	+	0	427	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	ZCCHC16_uc004epo.1_Missense_Mutation_p.E143K	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	143							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CACAAAACAGGAAATCAATCC	0.428000														2			106		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124757664	124757664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:124757664C>T	uc001qbg.3	-	12	2161	c.2021G>A	c.(2020-2022)gGa>gAa	p.G674E	ROBO4_uc010sas.2_Missense_Mutation_p.G529E|ROBO4_uc001qbh.2_Missense_Mutation_p.G564E|ROBO4_uc001qbi.3_Missense_Mutation_p.G232E|ROBO4_uc010sat.1_Missense_Mutation_p.G232E	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	674					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACCTCTATTTCCTAACTCACA	0.577000														2			30		0	0	1	0	0
LOC646498	646498	broad.mit.edu	37	3	49215235	49215235	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:49215235G>T	uc021wxt.1	-	3	536	c.449C>A	c.(448-450)tCc>tAc	p.S150Y		NM_001080528	NP_001073997			Homo sapiens uncharacterized LOC646498 (LOC646498), mRNA.																BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.00221)|KIRC - Kidney renal clear cell carcinoma(197;0.00247)		GCCACCCTGGGATGGGCAGCA	0.632000														16			8		0.00448238	0.00451522	1	1	0
HIPK1	204851	broad.mit.edu	37	1	114508861	114508862	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:114508861_114508862CC>TT	uc001eem.3	+	10	2509_2510	c.2348_2349CC>TT	c.(2347-2349)gcc>gTT	p.A783V	HIPK1_uc001eel.3_Missense_Mutation_p.A783V|HIPK1_uc001een.3_Missense_Mutation_p.A783V|HIPK1_uc001eeo.3_Missense_Mutation_p.A409V|HIPK1_uc001eep.3_Missense_Mutation_p.A389V|HIPK1_uc001eeq.3_Missense_Mutation_p.A75V	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTCCAGAGGCCATGGGGAGTG	0.545000														54			4		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39079180	39079180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:39079180G>A	uc003xmt.4	+	12	1530	c.1285G>A	c.(1285-1287)Gga>Aga	p.G429R	ADAM32_uc011lch.2_Missense_Mutation_p.G330R|ADAM32_uc003xmu.4_Missense_Mutation_p.G323R|ADAM32_uc003xmv.3_5'UTR	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	429	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ACTGAAAGACGGAGCAAAATG	0.338000														34			3		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93119107	93119107	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:93119107C>T	uc001yap.3	+	5	1865	c.1713C>T	c.(1711-1713)ccC>ccT	p.P571P	RIN3_uc010auk.3_Silent_p.P233P|RIN3_uc001yaq.3_Silent_p.P496P|RIN3_uc001yar.1_Silent_p.P233P|RIN3_uc001yas.1_Silent_p.P233P	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	571					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGAAGAAGCCCTCCATGATCC	0.597000														41			16		0	0	1	0	0
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	G	G	rs115341812	by1000genomes	TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567000														29			3		0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:57619097G>A	uc004dvd.3	+	0	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157	NP_009088	P98169	ZXDB_HUMAN	Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA.	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(4)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711000														30			3		0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954292	32954292	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:32954292C>T	uc002ntg.3	+	12	1541	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	DPY19L3_uc002nth.2_Missense_Mutation_p.S448F|DPY19L3_uc002nti.2_Non-coding_Transcript	NM_001172774	NP_997208	Q6ZPD9	D19L3_HUMAN	Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA.	448						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					AATCAACAATCCGTGGGTAAA	0.338000														15			18		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73269904	73269905	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr10:73269904_73269905GG>AA	uc001jrx.4	+	3	601_602	c.211_212GG>AA	c.(211-213)ggg>AAg	p.G71K	CDH23_uc001jrw.4_Missense_Mutation_p.G71K|CDH23_uc001jry.3_Missense_Mutation_p.G71K|CDH23_uc001jrz.3_Missense_Mutation_p.G71K|CDH23_uc021psl.1_Missense_Mutation_p.G71K|CDH23_uc001jrv.3_Missense_Mutation_p.G66K|CDH23_uc009xql.3_Missense_Mutation_p.G71K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	71	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGCGTGTCTGGGGAGGAGGCC	0.589000														7			52		0	0	1	0	0
C6orf195	154386	broad.mit.edu	37	6	2623770	2623770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr6:2623770G>A	uc003mtw.2	-	2	1272	c.287C>T	c.(286-288)aCa>aTa	p.T96I	C6orf195_uc021ykp.1_Missense_Mutation_p.T96I	NM_152554	NP_689767	Q96MT4	CF195_HUMAN	Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA.	96										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTTGAAGGGTGTGGGACCCGT	0.567000														56			44		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004565	42004565	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:42004565C>T	uc011kbh.2	-	14	4197	c.4106G>A	c.(4105-4107)gGc>gAc	p.G1369D	GLI3_uc011kbg.2_Missense_Mutation_p.G1310D	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1369					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1369C(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCTGCCCATGCCGTGAGCCCC	0.642000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					62			80		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107433700	107433700	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:107433700G>T	uc004enw.4	-	19	1454	c.1351C>A	c.(1351-1353)Cac>Aac	p.H451N	COL4A6_uc004env.4_Missense_Mutation_p.H450N|COL4A6_uc011msn.2_Missense_Mutation_p.H450N|COL4A6_uc010npk.3_Missense_Mutation_p.H450N	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	451	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCTTTGTTGTGTAGAGTTTCA	0.428000									Alport syndrome with Diffuse Leiomyomatosis					3			73		6.20995e-33	6.44429e-33	1	1	0
CPA4	51200	broad.mit.edu	37	7	129950821	129950821	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:129950821G>A	uc003vpr.3	+	8	1035	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	CPA4_uc011kpd.2_Missense_Mutation_p.E297K|CPA4_uc011kpe.2_Missense_Mutation_p.E226K	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	330					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AGATGCCGAGGAACTCGTGAG	0.572000														115			113		0	0	1	0	0
PRH1	5554	broad.mit.edu	37	12	11034877	11034877	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:11034877C>T	uc021qvf.1	-	3	516	c.458G>A	c.(457-459)gGg>gAg	p.G153E	PRH1_uc001qzb.4_Non-coding_Transcript|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Non-coding_Transcript|PRB4_uc001qzf.1_Intron	NM_006250	NP_006241	P02810	PRPC_HUMAN	Homo sapiens proline-rich protein HaeIII subfamily 1 (PRH1), mRNA.	153						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		TGGGCGGCCCCCTTGGGGAGG	0.587000														136			13		0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48834826	48834826	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:48834826G>A	uc004dly.1	-	21	1987	c.1952C>T	c.(1951-1953)tCa>tTa	p.S651L	GRIPAP1_uc004dlz.3_Missense_Mutation_p.S541L|GRIPAP1_uc004dma.3_Missense_Mutation_p.S572L	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	651						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GTTCATCTCTGAGAGAACCAG	0.582000														0			23		0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59750734	59750734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:59750734G>A	uc003xtw.1	-	4	1051	c.830C>T	c.(829-831)gCc>gTc	p.A277V		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	277						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CTTGATGGCGGCCTGAGTATC	0.463000														9			142		0	0	1	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12920946	12920946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:12920946C>T	uc002mvg.1	+	4	533	c.473C>T	c.(472-474)cCc>cTc	p.P158L		NM_006397	NP_006388	O75792	RNH2A_HUMAN	Homo sapiens ribonuclease H2, subunit A (RNASEH2A), mRNA.	158					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	RNA binding|metal ion binding|ribonuclease H activity			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						CAAAGTTTTCCCGGGATTGAG	0.537000														34			63		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7516792	7516792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:7516792C>T	uc003src.1	-	13	1301	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	COL28A1_uc011jxe.1_Missense_Mutation_p.G78E|COL28A1_uc003srd.3_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	395	Collagen-like 3.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCTGGTACTCCCTCAGGACC	0.498000														36			15		0	0	1	0	0
B4GALT7	11285	broad.mit.edu	37	5	177035919	177035919	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:177035919C>T	uc003mhy.3	+	4	825	c.732C>T	c.(730-732)cgC>cgT	p.R244R	B4GALT7_uc003mhz.3_Silent_p.R130R	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) (B4GALT7), mRNA.	244					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTTTTCCGCCCCTCGGGAA	0.622000														4			56		0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77272799	77272799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:77272799C>T	uc001xsv.3	-	4	1453	c.1340G>A	c.(1339-1341)aGg>aAg	p.R447K		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	447										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CTCTCCATCCCTGATGAAGTT	0.547000														24			16		0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102250644	102250644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:102250644G>A	uc001vpb.3	+	6	1229	c.1010G>A	c.(1009-1011)gGg>gAg	p.G337E	ITGBL1_uc010agb.3_Missense_Mutation_p.G288E|ITGBL1_uc001vpc.4_Missense_Mutation_p.G196E	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	337	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTTGCTCTGGGAGGGGTAAG	0.507000														18			6		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47836718	47836718	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr21:47836718C>T	uc002zji.4	+	29	6993	c.6886C>T	c.(6886-6888)Ccg>Tcg	p.P2296S	PCNT_uc002zjj.3_Missense_Mutation_p.P2178S	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2296					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGAGTCTCCGCCGGCTGACGA	0.697000														40			66		0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000														8			4		0.00909568	0.00909568	1	1	0
KCTD9	54793	broad.mit.edu	37	8	25296851	25296851	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:25296851A>G	uc003xeo.3	-	5	665	c.443T>C	c.(442-444)aTt>aCt	p.I148T	DOCK5_uc003xek.3_Intron	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA.	148	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GTAGTTCAAAATGGGTTCGAA	0.358000														50			10		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30749952	30749952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:30749952C>T	uc002dze.1	+	33	8976	c.8591C>T	c.(8590-8592)cCc>cTc	p.P2864L	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P2659L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2864	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGGAGGCCCCCCAAGAAGAAC	0.617000														1			61		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226576422	226576422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:226576422C>T	uc001hqd.4	-	4	823	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	218					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTCGCCACTTCATCCACTCCA	0.438000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						141			14		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195495930	195495930	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:195495930G>A	uc021xjp.1	-	6	13648	c.13492C>T	c.(13492-13494)Cag>Tag	p.Q4498*	MUC4_uc003fuz.3_Silent_p.P125P|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_Silent_p.P43P|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Silent_p.P43P|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Nonsense_Mutation_p.Q7*|MUC4_uc021xjn.1_Nonsense_Mutation_p.Q187*|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Nonsense_Mutation_p.Q62*|MUC4_uc021xjj.1_Nonsense_Mutation_p.Q62*|MUC4_uc021xjk.1_Nonsense_Mutation_p.Q239*|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Nonsense_Mutation_p.Q262*|MUC4_uc003fvp.3_Nonsense_Mutation_p.Q211*	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1255					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGAGCGCTGGGCCACGTCC	0.627000														26			20		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45502766	45502766	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr21:45502766C>T	uc002zea.3	+	13	1990	c.1821C>T	c.(1819-1821)tgC>tgT	p.C607C	TRAPPC10_uc010gpo.3_Silent_p.C318C|TRAPPC10_uc011afa.2_Silent_p.C26C	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	607					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCGTTTTGTGCGTTGAGATAA	0.502000														221			21		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3613800	3613800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:3613800C>T	uc010btn.3	-	4	1549	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	380	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGCCTTGCCCTTCTCCTGC	0.637000														43			35		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773817	140773817	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:140773817C>T	uc003lkd.2	+	0	2335	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.P479P|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	481	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S479L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACACGACCCCGACAGCCAGG	0.562000														2			27		0	0	1	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74211431	74211431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:74211431G>A	uc003ubd.1	-	15	2604	c.2420C>T	c.(2419-2421)cCc>cTc	p.P807L	GTF2IRD2_uc010lbt.1_Missense_Mutation_p.P354L	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tttcagggtgggaaagtgggc	0.488000														140			194		0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90605675	90605675	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr6:90605675C>T	uc011eaa.2	+	0	1488	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	496					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		AAGAGCTGTTCCATTCTGGAT	0.478000														7			83		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25058824	25058824	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:25058824A>G	uc001upl.3	-	11	1521	c.1415T>C	c.(1414-1416)cTt>cCt	p.L472P	PARP4_uc010tdc.2_Missense_Mutation_p.L472P	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	472	PARP catalytic.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CCCACTTCCAAGGTTTCCGAC	0.428000														180			53		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39435628	39435628	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:39435628G>A	uc001uwv.3	+	14	7889	c.7580G>A	c.(7579-7581)cGc>cAc	p.R2527H	FREM2_uc001uww.3_Missense_Mutation_p.R613H	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2527					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R2527H(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTAAATTGCGCTACACAGGC	0.463000														62			18		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81251256	81251256	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:81251256G>A	uc001xux.2	-	13	2365	c.2194C>T	c.(2194-2196)Cat>Tat	p.H732Y	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	732			H -> R (in dbSNP:rs327463).			centriole|spindle pole		p.H732R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTCCTGATATGATTCTCAGCC	0.373000														31			13		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19749133	19749133	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:19749133C>T	uc002nnd.3	-	8	741	c.624G>A	c.(622-624)gaG>gaA	p.E208E	GMIP_uc010xrb.2_Silent_p.E208E|GMIP_uc010xrc.2_Silent_p.E208E	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	208					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCTGCACCGCCTCATTCTGGG	0.657000														6			14		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25433264	25433264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:25433264C>T	uc001upr.3	+	25	3777	c.3736C>T	c.(3736-3738)Cgt>Tgt	p.R1246C	RNF17_uc010tdd.1_Missense_Mutation_p.R1105C|RNF17_uc010tde.2_Missense_Mutation_p.R1242C|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.R1185C|RNF17_uc010aac.3_Missense_Mutation_p.R444C|RNF17_uc010aad.3_Missense_Mutation_p.R298C	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1246	Tudor 3.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCTGTGGTATCGTGGCAAGGT	0.393000														44			14		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357408	38357409	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:38357408_38357409CC>AT	uc010abx.3	-	1	297_298	c.62_63GG>AT	c.(61-63)agg>aAT	p.R21N	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.R21N|TRPC4_uc001uws.3_Missense_Mutation_p.R21N|TRPC4_uc010tey.2_Missense_Mutation_p.R21N|TRPC4_uc010abw.3_Missense_Mutation_p.R21N|TRPC4_uc010aby.3_Missense_Mutation_p.R21N	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	21					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTCTTACTATCCTTAGAGGGAT	0.416000														140			53		0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	801464	801464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:801464G>A	uc001lro.2	-	7	1610	c.1463C>T	c.(1462-1464)cCt>cTt	p.P488L	PIDD_uc009yck.1_Non-coding_Transcript|PIDD_uc001lrl.1_Missense_Mutation_p.P342L|PIDD_uc001lrm.1_Missense_Mutation_p.P175L|PIDD_uc001lrn.2_Missense_Mutation_p.P342L|PIDD_uc001lrk.2_Missense_Mutation_p.P488L|PIDD_uc001lrp.2_Missense_Mutation_p.P126L	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	488	ZU5 2.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GACTCGACGAGGCTCCTCAGT	0.667000														0			8		0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51117584	51117584	+	Silent	SNP	C	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr22:51117584C>G	uc003bne.1	+	5	738	c.738C>G	c.(736-738)acC>acG	p.T246T		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	246										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGGGGATCACCGACGAGAATG	0.667000														7			9		0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206241635	206241635	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:206241635C>G	uc001hdt.1	-	3	793	c.154G>C	c.(154-156)Gtt>Ctt	p.V52L		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	52						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGCCTGGGAACCTGGAGACTG	0.552000														76			25		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186692926	186692927	+	Splice_Site	DNP	GG	AT	AT			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:186692926_186692927GG>AT	uc002upl.3	+	21	20784	c.20784_splice	c.e21+1	p.K6928_splice	FSIP2_uc002upm.3_Splice_Site	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACAGTGTTAAGGTAAGTATTTT	0.337000														5			40		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57003346	57003346	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:57003346G>A	uc002eki.2	+	2	339	c.282G>A	c.(280-282)gtG>gtA	p.V94V	CETP_uc002ekj.2_Silent_p.V94V	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	94					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGGAGCTGGTGGAAGCCAAGT	0.552000														4			58		0	0	1	0	0
NDNL2	56160	broad.mit.edu	37	15	29561213	29561214	+	Silent	DNP	GG	AA	AA			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:29561213_29561214GG>AA	uc001zco.3	-	0	807_808	c.696_697CC>TT	c.(694-699)tacctg>taTTtg	p.232_233YL>YL	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	Homo sapiens necdin-like 2 (NDNL2), mRNA.	232	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGGTATTCCAGGTAACGCTGTC	0.520000														54			68		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621447	32621447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:32621447C>T	uc003xiv.2	+	11	1967	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S	NRG1_uc022ats.1_Missense_Mutation_p.P434S|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.P489S|NRG1_uc003xiw.2_Missense_Mutation_p.P481S|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.P226S|NRG1_uc010lvs.2_Missense_Mutation_p.P226S|NRG1_uc010lvp.2_Missense_Mutation_p.P438S|NRG1_uc010lvq.2_Missense_Mutation_p.P414S|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.P327S|NRG1_uc003xja.2_Missense_Mutation_p.P295S	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	484					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CGTGACACCACCAAGGCTGCG	0.572000														114			23		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554704	19554704	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:19554704C>T	uc003cbk.1	+	12	2517	c.2322C>T	c.(2320-2322)tcC>tcT	p.S774S	KCNH8_uc010hex.1_Silent_p.S235S	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	774						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGTCAAATTCCCCCAAAACCA	0.468000														40			59		0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7975228	7975228	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:7975228C>T	uc002mit.3	+	3	482	c.417C>T	c.(415-417)ttC>ttT	p.F139F	MAP2K7_uc002miv.2_Silent_p.F139F|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Silent_p.F14F|MAP2K7_uc010xkb.2_Silent_p.F139F	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	139	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	AGATGCGCTTCCGGAAGACCG	0.667000														6			12		0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50303397	50303397	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:50303397C>T	uc002ppn.3	+	10	1656	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	AP2A1_uc010enj.1_Non-coding_Transcript|AP2A1_uc002ppo.3_Missense_Mutation_p.T482I|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	482					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GCCGCCAAGACCGTCTTTGAG	0.632000														10			9		0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86915857	86915857	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr4:86915857G>A	uc003hpk.3	+	8	1499	c.1050G>A	c.(1048-1050)caG>caA	p.Q350Q	ARHGAP24_uc003hpl.3_Silent_p.Q255Q|ARHGAP24_uc010ikf.3_Silent_p.Q265Q|ARHGAP24_uc003hpm.3_Silent_p.Q257Q	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	350					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		ATGAAATTCAGAAGAAAGCCA	0.468000														14			127		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50584131	50584132	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr22:50584131_50584132CC>AT	uc003bjj.3	+	18	2602_2603	c.2519_2520CC>AT	c.(2518-2520)gcc>gAT	p.A840D	MOV10L1_uc003bjk.4_Missense_Mutation_p.A840D|MOV10L1_uc011arp.2_Missense_Mutation_p.A820D|MOV10L1_uc003bjl.3_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	840					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTTATTGACGCCGTCAAACCGT	0.475000														31			93		0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79212996	79212996	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:79212996A>T	uc001vkw.1	-	3	570	c.511T>A	c.(511-513)Tat>Aat	p.Y171N	RNF219_uc010afb.1_5'UTR	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	171							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		ACTTTTTCATAGATTTCATTA	0.313000														68			28		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61305285	61305285	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr18:61305285C>T	uc002ljf.3	-	7	927	c.841G>A	c.(841-843)Gat>Aat	p.D281N	SERPINB3_uc002lje.3_Missense_Mutation_p.D260N|SERPINB3_uc002ljg.3_Missense_Mutation_p.D281N	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	281					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AAGTGTAAATCGACACATGTC	0.403000														49			59		0	0	1	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000														147			4		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	34494	34494	+	Splice_Site	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrGL000241.1:34494C>T	uc011mgv.2	-	3		c.389_splice	c.e3+1							Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		AACTGACTCACCAACATATCA	0.279000														49			3		0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435762	7435762	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr4:7435762T>C	uc011bwj.2	-	0	939	c.845A>G	c.(844-846)aAa>aGa	p.K282R	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	282					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						CTCGCTCTGTTTCCTTGGCAA	0.597000														10			50		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57957188	57957188	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:57957188C>T	uc002emt.2	-	17	1697	c.1632G>A	c.(1630-1632)ccG>ccA	p.P544P	CNGB1_uc010cdh.2_Silent_p.P538P	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	544					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGTGTCCTTCGGGGTGGTGG	0.582000														3			27		0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122674711	122674711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:122674711G>A	uc009zxm.3	+	4	722	c.697G>A	c.(697-699)Gac>Aac	p.D233N	LRRC43_uc001ubw.4_Missense_Mutation_p.D48N|LRRC43_uc009zxn.3_5'UTR	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	233								p.S233L(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GGGCTTCAACGACCTGACAGA	0.642000														14			150		0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3647493	3647495	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:3647493_3647495CC>GT	uc001akp.3	+	11	1458_1460	c.1348_1350CC>GT	c.(1348-1350)ccc>GT	p.P450del	TP73_uc021ofb.1_Intron|TP73_uc021ofc.1_Missense_Mutation_p.P400del|TP73_uc021ofd.1_Missense_Mutation_p.P450del|TP73_uc021ofe.1_Intron|TP73_uc021off.1_Missense_Mutation_p.P400del|TP73_uc021ofg.1_Intron|TP73_uc021ofh.1_Missense_Mutation_p.P351del|TP73_uc021ofi.1_Intron|TP73_uc001akr.3_Missense_Mutation_p.P401del|TP73_uc009vlk.2_Missense_Mutation_p.P351del|TP73_uc001aks.3_Missense_Mutation_p.P401del|TP73_uc010nzk.2_Missense_Mutation_p.P379del|TP73_uc010nzl.2_5'UTR	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	450					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TCACCCAGGCCCCGGGATGCTCA	0.680000														8			18		0	0	1	0	0
GLE1	2733	broad.mit.edu	37	9	131289773	131289773	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr9:131289773C>T	uc004bvj.3	+	8	1395	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	GLE1_uc004bvi.3_Silent_p.T427T|GLE1_uc010myd.3_Silent_p.T173T	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	Homo sapiens GLE1 RNA export mediator homolog (yeast) (GLE1), transcript variant 1, mRNA.	427					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AGGCTGCTACCATCCCAGTGA	0.433000														5			19		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207791445	207791445	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:207791445G>C	uc001hfy.3	+	33	5709	c.5569G>C	c.(5569-5571)Ggg>Cgg	p.G1857R	CR1_uc001hfx.3_Missense_Mutation_p.G2307R|CR1_uc021pij.1_Missense_Mutation_p.G1857R	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1857	Sushi 29.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATCCAAAACGGGCATTACAT	0.433000														15			85		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108081263	108081263	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:108081263C>T	uc003dwz.3	+	6	1492	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	HHLA2_uc011bhl.2_Silent_p.L296L|HHLA2_uc010hpu.3_Silent_p.L360L|HHLA2_uc003dwy.4_Silent_p.L360L	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	360						integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGCAGCTTTTCTGCTGATTTG	0.403000														11			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428362	179428363	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:179428362_179428363GG>AA	uc021vsy.1	-	274	75017_75018	c.74792_74793CC>TT	c.(74791-74793)acc>aTT	p.T24931I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T18626I|TTN_uc021vta.1_Missense_Mutation_p.T18559I|TTN_uc021vtb.1_Missense_Mutation_p.T18434I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25858	Fibronectin type-III 81.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T24929T(1)|p.T18626T(1)|p.T18434T(1)		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)			CCTCAATTTCGGTACCTCCGTC	0.480000														14			123		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50530807	50530807	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr10:50530807G>T	uc021pqb.1	+	0	217	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C	C10orf71_uc021pqa.1_Missense_Mutation_p.G72C|C10orf71_uc021pqc.1_Missense_Mutation_p.G73C	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	73										endometrium(1)	1						GAGAACAGTGGGCCACACCCA	0.557000														15			30		2.46105e-21	2.53479e-21	1	1	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816956	1816956	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:1816956C>T	uc010uvl.2	+	24	3192	c.3072C>T	c.(3070-3072)atC>atT	p.I1024I	MAPK8IP3_uc002cmk.3_Silent_p.I1023I|MAPK8IP3_uc002cml.3_Silent_p.I1013I|MAPK8IP3_uc021tah.1_Silent_p.I1017I	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	1023					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCCTGGCCATCTTCCACCGTG	0.662000														5			93		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2538422	2538422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:2538422C>T	uc001ajy.2	-	6	836	c.622G>A	c.(622-624)Gag>Aag	p.E208K	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	208					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCTACGGTCTCGTTCCACCTG	0.642000														116			18		0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52579308	52579308	+	Missense_Mutation	SNP	C	T	T	rs142483540		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:52579308C>T	uc001rzw.3	-	0	226	c.175G>A	c.(175-177)Gac>Aac	p.D59N	KRT80_uc001rzy.3_Missense_Mutation_p.D122N|KRT80_uc001rzx.3_Missense_Mutation_p.D122N	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	210	Head.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		ATGGCTGAGTCCTGGCCCTGC	0.637000														3			50		0	0	1	0	0
C15orf53	400359	broad.mit.edu	37	15	38988833	38988833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:38988833G>A	uc001zkf.1	+	0	35	c.25G>A	c.(25-27)Gac>Aac	p.D9N		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	9										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		GGCCCAAGAGGACCTGGGCAT	0.557000														47			34		0	0	1	0	0
TSPAN7	7102	broad.mit.edu	37	X	38535027	38535027	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:38535027C>T	uc011mkj.2	+	6	797	c.588C>T	c.(586-588)atC>atT	p.I196I	TSPAN7_uc004deg.4_Silent_p.I170I|TSPAN7_uc011mkk.2_Silent_p.I187I			P41732	TSN7_HUMAN	Homo sapiens tetraspanin 7 (TSPAN7), mRNA.	170					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGCATGGCATCCCCCCCAGCT	0.498000														4			58		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21078629	21078629	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:21078629C>T	uc010vbe.2	-	23	3493	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1165	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCTTCTTCTCCAAGTAATCA	0.443000														4			47		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154033433	154033433	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:154033433G>A	uc001fdw.3	-	18	2805	c.2733C>T	c.(2731-2733)aaC>aaT	p.N911N	NUP210L_uc009woq.3_Intron|NUP210L_uc010peh.2_Silent_p.N911N	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	911						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATCAGGGTGGTTATAGATGG	0.363000														22			89		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416564	105416564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:105416564G>A	uc010axc.1	-	6	5344	c.5224C>T	c.(5224-5226)Ccc>Tcc	p.P1742S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P1642S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1742						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCACCTTGGGGAGGTGCCCT	0.647000														126			54		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6750995	6750995	+	Silent	SNP	G	A	A	rs79417223		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr20:6750995G>A	uc002wmu.1	+	1	1007	c.222G>A	c.(220-222)gtG>gtA	p.V74V		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	74					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GGGACGCCGTGGTGCCCCCCT	0.657000														33			49		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412419	19412419	+	RNA	SNP	A	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:19412419A>G	uc010tcj.1	-	0		c.33691T>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTATCTTTTAAGGTATTGAAT	0.453000														8			8		0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750553	41750553	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr4:41750553G>A	uc003gwf.4	-	0	435	c.75C>T	c.(73-75)agC>agT	p.S25S		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	25					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTGAAGCCAGGCTCGAGGTGT	0.522000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					21			4		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970848	151970848	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:151970848C>T	uc003wla.3	-	6	1173	c.954G>A	c.(952-954)caG>caA	p.Q318Q		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	318					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GACTGAAATCCTGAAAGGTGC	0.423000			N		medulloblastoma									227			15		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468176	50468176	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:50468176T>C	uc003tow.4	+	7	1566	c.1411T>C	c.(1411-1413)Ttc>Ctc	p.F471L	IKZF1_uc022acq.1_Missense_Mutation_p.F328L|IKZF1_uc003tpa.4_Missense_Mutation_p.F236L|IKZF1_uc022acr.1_Missense_Mutation_p.F246L|IKZF1_uc022acs.1_Missense_Mutation_p.F201L|IKZF1_uc022act.1_Missense_Mutation_p.F374L|IKZF1_uc022acu.1_Missense_Mutation_p.F384L|IKZF1_uc003tox.4_Missense_Mutation_p.F429L|IKZF1_uc022acv.1_Missense_Mutation_p.F332L|IKZF1_uc022acw.1_Missense_Mutation_p.F342L|IKZF1_uc022acx.1_Missense_Mutation_p.F384L|IKZF1_uc022acy.1_Missense_Mutation_p.F278L|IKZF1_uc022acz.1_Missense_Mutation_p.F288L|IKZF1_uc011kck.2_Missense_Mutation_p.F384L|IKZF1_uc003toy.4_Missense_Mutation_p.F429L|IKZF1_uc003toz.4_Missense_Mutation_p.F441L|IKZF1_uc010kyx.3_Missense_Mutation_p.F211L	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	471	Required for binding PP1CC (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCGGGTGCTCTTCCTGGATCA	0.622000			"""D,T"""	BCL6	"""ALL, DLBCL"""									33			50		0	0	1	0	0
PSMA4	5685	broad.mit.edu	37	15	78841258	78841258	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:78841258A>G	uc002bdu.4	+	8	916	c.758A>G	c.(757-759)gAa>gGa	p.E253G	PSMA4_uc010blf.3_Missense_Mutation_p.E253G|PSMA4_uc002bdv.4_Missense_Mutation_p.E182G|PSMA4_uc002bdw.4_Missense_Mutation_p.E229G|PSMA4_uc002bdx.4_Missense_Mutation_p.E182G	NM_002789	NP_001096138	P25789	PSA4_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 4 (PSMA4), transcript variant 1, mRNA.	253					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, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAGAAGAAAGAAAAAGAACAG	0.368000														41			14		0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879168	209879168	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:209879168G>A	uc001hhj.3	+	2	233	c.101G>A	c.(100-102)gGa>gAa	p.G34E	HSD11B1_uc021pin.1_Missense_Mutation_p.G34E|HSD11B1_uc001hhk.3_Missense_Mutation_p.G34E	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	34					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	ATGCTCCAAGGAAAGAAAGTG	0.517000														101			15		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919635	12919635	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:12919635C>T	uc001aum.1	+	2	462	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	125										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCTGCTTCCCAGAGGCCA	0.537000														208			316		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558840	113558840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:113558840C>T	uc010ljy.1	-	0	243	c.212G>A	c.(211-213)gGa>gAa	p.G71E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	71					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAGATTGAATCCAAAGGAATC	0.408000														82			70		0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33501951	33501951	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr20:33501951G>A	uc010gey.2	+	5	817	c.696G>A	c.(694-696)gaG>gaA	p.E232E	ACSS2_uc002xbc.2_Silent_p.E137E|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Silent_p.E232E|ACSS2_uc002xbe.2_Intron	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	232					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGGCTGACGAGGCCCTGCAGA	0.542000														26			54		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174717	63174717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:63174717C>T	uc001xfx.3	-	10	2527	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	826					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCCAGTCTTCCTTTTTCTCC	0.433000														46			25		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	361463	361463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:361463G>A	uc003bot.3	+	2	646	c.4G>A	c.(4-6)Gag>Aag	p.E2K	CHL1_uc003bou.3_Missense_Mutation_p.E2K|CHL1_uc003bow.2_Missense_Mutation_p.E2K|CHL1_uc011asi.2_Missense_Mutation_p.E2K	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	2					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAGAGCAATGGAGCCGCTTTT	0.373000														18			5		0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44890925	44890925	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:44890925G>A	uc001ztx.3	-	21	3827	c.3796C>T	c.(3796-3798)Ctc>Ttc	p.L1266F	SPG11_uc010ueh.2_Missense_Mutation_p.L1266F|SPG11_uc010uei.2_Missense_Mutation_p.L1266F|SPG11_uc001zty.1_5'UTR	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1266					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTGAGCTTGAGGCTGTCAAGG	0.423000														55			31		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299027	125299027	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:125299027G>T	uc004euk.2	-	0	1054	c.881C>A	c.(880-882)aCa>aAa	p.T294K		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	294										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTGGATAGTGTGCTCCGGGC	0.607000														215			4		0.00909568	0.00909568	1	1	0
FOXRED2	80020	broad.mit.edu	37	22	36897386	36897386	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr22:36897386G>A	uc003apn.4	-	3	1226	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	FOXRED2_uc003apm.4_5'Flank|FOXRED2_uc003apo.4_Missense_Mutation_p.S373F|FOXRED2_uc003app.4_Missense_Mutation_p.S373F	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA.	373					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCTTCCTTTGGATTCGTAGCT	0.527000														63			8		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517378	140517378	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:140517378T>G	uc003liq.3	+	0	2579	c.2362T>G	c.(2362-2364)Ttc>Gtc	p.F788V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	788					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTGCTGCCTTCCGGAATAG	0.473000														10			94		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51673595	51673595	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:51673595C>T	uc011bdt.2	+	11	2146	c.2021C>T	c.(2020-2022)tCg>tTg	p.S674L	RAD54L2_uc003dbh.3_Missense_Mutation_p.S265L|RAD54L2_uc011bdu.2_Missense_Mutation_p.S368L|RAD54L2_uc003dbj.3_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	674						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTGGCTTCCTCGATGGGAGAG	0.542000														14			17		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37682121	37682121	+	Silent	SNP	T	C	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr17:37682121T>C	uc010cvv.3	+	12	3898	c.3312T>C	c.(3310-3312)ctT>ctC	p.L1104L	CDK12_uc010wef.1_Silent_p.L1103L|CDK12_uc002hrw.4_Silent_p.L1104L	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1104					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAACAGGCCTTGCTGACATCA	0.463000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				1			39		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288489	77288489	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr4:77288489C>T	uc003hkb.4	-	10	1941	c.1788G>A	c.(1786-1788)gaG>gaA	p.E596E		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	596										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TAATTTCTTTCTCCAGTTGAG	0.408000														2			68		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30500666	30500667	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:30500666_30500667GG>AA	uc002dyi.4	+	10	1348_1349	c.1172_1173GG>AA	c.(1171-1173)ggg>gAA	p.G391E	ITGAL_uc002dyj.4_Missense_Mutation_p.G308E|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	391					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ACATTTATTGGGAATGAACCAT	0.545000														4			66		0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491125	30491125	+	Silent	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:30491125G>A	uc003tav.3	-	5	2431	c.1908C>T	c.(1906-1908)ccC>ccT	p.P636P		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	636					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCTGAACGCGGGGCAGGCTCT	0.637000														36			23		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404411	20404411	+	Missense_Mutation	SNP	G	A	A	rs149331048		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:20404411G>A	uc001vwj.2	+	0	645	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATATGAAATGGAAATTATGAC	0.448000														74			23		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502305	20502305	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:20502305G>A	uc010tkz.2	-	0	613	c.613C>T	c.(613-615)Ctc>Ttc	p.L205F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGTGACAGGAGCCCACTGTCA	0.478000														29			24		0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33718315	33718315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr18:33718315C>T	uc010xcg.2	+	3	431	c.371C>T	c.(370-372)cCt>cTt	p.P124L	ELP2_uc002kzk.2_Missense_Mutation_p.P124L|ELP2_uc002kzl.2_Non-coding_Transcript|ELP2_uc002kzm.2_Missense_Mutation_p.P124L|ELP2_uc010xch.2_Missense_Mutation_p.P124L|ELP2_uc002kzn.2_Missense_Mutation_p.P124L|ELP2_uc002kzo.2_Missense_Mutation_p.P124L	NM_001242875	NP_001229804	Q6IA86	ELP2_HUMAN	Homo sapiens elongation protein 2 homolog (S. cerevisiae) (ELP2), transcript variant 1, mRNA.	124					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ACATCAGATCCTGCATTATGT	0.448000														45			73		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160122998	160122998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:160122998C>T	uc001fve.4	+	1	670	c.191C>T	c.(190-192)tCc>tTc	p.S64F	ATP1A4_uc001fvf.4_Non-coding_Transcript	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	64					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCAAGTACTCCGTGGACctg	0.532000														10			43		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099312	169099312	+	Splice_Site	SNP	T	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:169099312T>G	uc011bpj.1	-	2	441	c.38_splice	c.e2-1	p.N13_splice	MECOM_uc003ffl.2_Splice_Site|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Splice_Site_p.N13_splice|MECOM_uc011bpl.1_Splice_Site_p.N13_splice	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	13							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACACTCATTATCTGTGAATAA	0.393000														5			10		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					71			81		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117119168	117119168	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr9:117119168G>T	uc004biq.3	-	11	2956	c.2821C>A	c.(2821-2823)Cca>Aca	p.P941T	AKNA_uc004bin.3_Missense_Mutation_p.P188T|AKNA_uc004bio.3_Missense_Mutation_p.P401T|AKNA_uc004bip.3_Missense_Mutation_p.P860T|AKNA_uc004bir.3_Missense_Mutation_p.P941T|AKNA_uc004bis.3_Missense_Mutation_p.P941T|AKNA_uc010mve.2_Missense_Mutation_p.P822T	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CGGTGCTCTGGAGTCTGGGTG	0.587000														11			131		4.17978e-45	4.35394e-45	1	1	0
FAM55D	54827	broad.mit.edu	37	11	114453658	114453658	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:114453658G>A	uc001ppc.3	-	2	363	c.182C>T	c.(181-183)tCa>tTa	p.S61L	FAM55D_uc001ppd.3_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	61						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TGGCTTTAATGATATCAGTGG	0.428000														109			32		0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	623733	623733	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:623733C>A	uc003wph.3	-	3	684	c.619G>T	c.(619-621)Gag>Tag	p.E207*	ERICH1_uc003wpi.3_Nonsense_Mutation_p.E19*	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	Homo sapiens glutamate-rich 1 (ERICH1), mRNA.	207	Glu-rich.							p.E207D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CCATCCTCCTCACAAGCCTCT	0.592000														35			136		7.73745e-69	8.12137e-69	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76124678	76124678	+	Missense_Mutation	SNP	C	T	T	rs145500939	byFrequency	TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr6:76124678C>T	uc010kbe.3	-	2	550	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	FILIP1_uc003phy.1_Missense_Mutation_p.R4Q|FILIP1_uc003pia.3_Missense_Mutation_p.R4Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	4										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACCTTGGTTTCGAGATCTCAT	0.388000														4			74		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62289219	62289219	+	Missense_Mutation	SNP	G	A	A	rs143211270	by1000genomes	TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:62289219G>A	uc003xuh.3	+	2	835	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CLVS1_uc003xug.2_3'UTR|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	171	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.E171K(2)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGTCCTAATCGAAGATCCGGA	0.438000														4			101		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101944592	101944593	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:101944592_101944593GG>AA	uc001vox.1	-	7	1113_1114	c.924_925CC>TT	c.(922-927)ttcctc>ttTTtc	p.L309F	NALCN_uc001voy.3_Missense_Mutation_p.L24F|NALCN_uc001voz.2_Missense_Mutation_p.L309F|NALCN_uc001vpa.2_Missense_Mutation_p.L309F	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	309						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.F308L(2)		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)					AGCCAGGCGAGGAAGAAAATGA	0.465000														28			13		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128628020	128628020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:128628020C>T	uc010sbu.2	+	1	372	c.29C>T	c.(28-30)tCg>tTg	p.S10L	FLI1_uc010sbt.2_5'UTR|FLI1_uc010sbv.2_5'UTR|FLI1_uc009zci.3_5'UTR|FLI1_uc001qen.3_5'UTR	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	10					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S10*(2)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GAGGCTCTGTCGGTGGTGAGC	0.612000			T	EWSR1	Ewing sarcoma									2			5		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54825248	54825248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:54825248G>A	uc021smr.1	+	23	5674	c.5674G>A	c.(5674-5676)Gat>Aat	p.D1892N	UNC13C_uc021sms.1_Missense_Mutation_p.D1894N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1894	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCTCTTATGGATTTTTTGGA	0.343000														5			9		0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30978850	30978850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:30978850C>T	uc002ead.1	+	9	3397	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	904	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCGGAAATTTCCGAGGCCAGT	0.572000														9			74		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89658686	89658686	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr4:89658686C>T	uc003hse.1	-	20	2791	c.2583G>A	c.(2581-2583)cgG>cgA	p.R861R	FAM13A_uc011cdp.1_5'UTR|FAM13A_uc003hsa.1_Intron|FAM13A_uc003hsb.1_Silent_p.R535R|FAM13A_uc003hsd.1_Intron|FAM13A_uc003hsc.1_Silent_p.R521R|FAM13A_uc011cdq.1_Silent_p.R507R|FAM13A_uc003hsf.1_Silent_p.R447R|FAM13A_uc003hsg.1_Intron	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	861					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AAGGGCTTCTCCGCTTGCTGG	0.537000														11			59		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068609	5068609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:5068609C>T	uc010qyv.2	+	0	854	c.854C>T	c.(853-855)cCa>cTa	p.P285L		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGATTATCCCACCCTCTCTC	0.383000														5			50		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264896	50264896	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:50264896T>A	uc001zxu.3	-	12	1268	c.1126A>T	c.(1126-1128)Acg>Tcg	p.T376S	ATP8B4_uc010ber.3_Missense_Mutation_p.T249S|ATP8B4_uc010ufd.2_Missense_Mutation_p.T249S|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	376					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGCGTGGTCGTTCGAGCCACT	0.428000														14			29		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746569	95746569	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:95746569G>A	uc003kls.2	-	7	1243	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F	PCSK1_uc010jbi.2_Intron|PCSK1_uc021ybq.1_Missense_Mutation_p.S288F	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	335	Catalytic.				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)	GCCTTGCTGGGAGGCACTGCT	0.557000														19			126		0	0	1	0	0
FAM48B2	170067	broad.mit.edu	37	X	24329431	24329431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:24329431G>A	uc011mjw.2	-	0	2002	c.2002C>T	c.(2002-2004)Cat>Tat	p.H668Y		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	668	Gln-rich.									breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						ACCAGCTGATGGGACTGCTGC	0.617000														3			92		0	0	1	0	0
FABP6	2172	broad.mit.edu	37	5	159626162	159626162	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:159626162C>A	uc003lxx.1	+	1	195	c.49C>A	c.(49-51)Cag>Aag	p.Q17K	FABP6_uc003lxz.1_Missense_Mutation_p.Q17K|AK097242_uc003lxy.1_Non-coding_Transcript	NM_001130958	NP_001436	P51161	FABP6_HUMAN	Homo sapiens fatty acid binding protein 6, ileal (FABP6), transcript variant 3, mRNA.	0					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCGCTGACTCAGGTAGctcc	0.577000											OREG0016998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			47		8.20599e-20	8.42032e-20	1	1	0
IGF2R	3482	broad.mit.edu	37	6	160479976	160479976	+	Silent	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr6:160479976C>T	uc003qta.3	+	21	3085	c.2937C>T	c.(2935-2937)atC>atT	p.I979I		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	979					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GTGGGACCATCCTGGGAAAAC	0.498000														6			41		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038002	62038002	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr20:62038002T>C	uc002yey.1	-	16	2791	c.2614A>G	c.(2614-2616)Aag>Gag	p.K872E	KCNQ2_uc002yez.1_Missense_Mutation_p.K841E|KCNQ2_uc002yfa.1_Missense_Mutation_p.K854E|KCNQ2_uc002yfb.1_Missense_Mutation_p.K844E	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	872					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)	CCGCCTCACTTCCTGGGCCCG	0.716000														16			17		0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24826599	24826600	+	Missense_Mutation	DNP	GG	AA	AA	rs148426730		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:24826599_24826600GG>AA	uc002dmm.3	+	18	4918_4919	c.4804_4805GG>AA	c.(4804-4806)ggc>AAc	p.G1602N	TNRC6A_uc010bxs.3_Missense_Mutation_p.G1349N|TNRC6A_uc002dmn.3_Missense_Mutation_p.G1300N|TNRC6A_uc002dmo.3_Missense_Mutation_p.G1241N|TNRC6A_uc002dmp.3_Missense_Mutation_p.G203N|TNRC6A_uc002dmq.3_Missense_Mutation_p.G269N	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1602					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATCGCCTAACGGCTCTAGCAGT	0.436000														2			67		0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1841005	1841005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:1841005C>T	uc010uvn.2	-	1	1609	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	IGFALS_uc002cmy.3_Missense_Mutation_p.E472K|IGFALS_uc010uvo.2_Missense_Mutation_p.E106K	NM_001146006	NP_001139478	P35858	ALS_HUMAN	Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.	472					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GCCGGCAGCTCTGCCAGGCGG	0.692000														3			45		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57054642	57054643	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:57054642_57054643CC>TT	uc021tiu.1	+	1	145_146	c.18_19CC>TT	c.(16-21)ctccag>ctTTag	p.Q7*	NLRC5_uc021tit.1_Nonsense_Mutation_p.Q7*|NLRC5_uc010ccq.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	7					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCGTTGGCCTCCAGCTCGGCAA	0.584000														5			36		0	0	1	0	0
PLAC4	191585	broad.mit.edu	37	21	42551549	42551549	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr21:42551549C>G	uc002yyz.3	-	0	5618	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	3													Prostate(19;2.29e-06)				CGCAGCAACTCTTTCATCTAG	0.473000														32			15		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904194	21904194	+	RNA	SNP	C	A	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr17:21904194C>A	uc002gza.2	+	0		c.133C>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		agcctcaggcctgccaggacg	0.677000														112			11		2.80697e-09	2.83793e-09	1	1	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74835098	74835098	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:74835098C>T	uc001dge.2	+	17	1866	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.S600F|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.S600F|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.S499F	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	499	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ACCTACTGCTCCAAGTCAGAT	0.468000														14			71		0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	-	-			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:44388715_44388717delAGC	uc003jog.1	-	0	68_70	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	23					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													---	245	---	---	10	---					
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	-	-			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:2963941_2963943delGGA	uc003smv.3	-	14	2198_2200	c.1864_1866delTCC	c.(1864-1866)tccdel	p.S622del		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	622					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGATTGGTGGGAGGAGGAGGAG	0.616			Mis		DLBCL								---	195	---	---	7	---					
TRPM3	80036	broad.mit.edu	37	9	73213394	73213418	+	Frame_Shift_Del	DEL	GGAGACGGATATACCAGTAAATGAT	-	-	rs148097532		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr9:73213394_73213418delGGAGACGGATATACCAGTAAATGAT	uc004aid.3	-	19	3173_3197	c.2929_2953delATCATTTACTGGTATATCCGTCTCC	c.(2929-2955)atcatttactggtatatccgtctcctafs	p.I977fs	TRPM3_uc004ahu.3_Frame_Shift_Del_p.I807fs|TRPM3_uc004ahv.3_Frame_Shift_Del_p.I779fs|TRPM3_uc004ahw.3_Frame_Shift_Del_p.I849fs|TRPM3_uc004ahx.3_Frame_Shift_Del_p.I836fs|TRPM3_uc004ahy.3_Frame_Shift_Del_p.I839fs|TRPM3_uc004ahz.3_Frame_Shift_Del_p.I826fs|TRPM3_uc004aia.3_Frame_Shift_Del_p.I824fs|TRPM3_uc004aib.3_Frame_Shift_Del_p.I814fs|TRPM3_uc004aic.3_Frame_Shift_Del_p.I977fs	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1002						integral to membrane	calcium channel activity	p.I982I(1)|p.R987S(1)|p.R855S(1)|p.I854I(1)|p.R983S(1)|p.I986I(1)|p.I981V(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGATGTCTAGGAGACGGATATACCAGTAAATGATGTTCACGCAG	0.467													---	42	---	---	39	---					
RB1	5925	broad.mit.edu	37	13	48919328	48919329	+	Frame_Shift_Ins	INS	-	TGGA	TGGA	rs66624868		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:48919328_48919329insTGGA	uc001vcb.3	+	3	659_660	c.493_494insTGGA	c.(493-495)ttgfs	p.L165fs	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	165					G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTCAGCAAATTGGAAAGGTAA	0.287		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			---	5	---	---	13	---					
JAG2	3714	broad.mit.edu	37	14	105612178	105612178	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:105612178delC	uc001yqg.3	-	22	3246	c.2842delG	c.(2842-2844)gagfs	p.E948fs	JAG2_uc001yqf.3_Frame_Shift_Del_p.E352fs|JAG2_uc001yqh.3_Frame_Shift_Del_p.E910fs	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	948					Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCGCCGCACTCCCCCCAGGCC	0.687													---	4	---	---	2	---					
PKD1P1	339044	broad.mit.edu	37	16	16415262	16415264	+	RNA	DEL	GTG	-	-			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:16415262_16415264delGTG	uc002der.3	+	0		c.754_756delGTG								Homo sapiens polycystic kidney disease 1 (autosomal dominant) pseudogene 1 (PKD1P1), non-coding RNA.																		GGGAGTCCCAGTGGTGAGTATGG	0.714													---	8	---	---	4	---					
CCDC144B	284047	broad.mit.edu	37	17	18498059	18498060	+	RNA	INS	-	A	A	rs66528329		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr17:18498059_18498060insA	uc002gua.4	-	7		c.2035_2036insT			CCDC144B_uc010vyc.2_Non-coding_Transcript					Homo sapiens coiled-coil domain containing 144B (pseudogene) (CCDC144B), non-coding RNA.											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTAAGTTGTTCATCAGCAACAT	0.406													---	3	---	---	13	---					
KLF2	10365	broad.mit.edu	37	19	16436208	16436208	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:16436208delC	uc002ndw.3	+	1	341	c.257delC	c.(256-258)gccfs	p.A86fs		NM_016270	NP_057354	Q9Y5W3	KLF2_HUMAN	Homo sapiens Kruppel-like factor 2 (lung) (KLF2), mRNA.	86					positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						CCCTACAGCGCCCCCGCGGGT	0.796													---	4	---	---	2	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	-	-			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:47935681_47935683delTCC	uc010ele.3	-	7	2146_2148	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_uc002pgx.3_In_Frame_Del_p.E710del|SLC8A2_uc010xyq.2_In_Frame_Del_p.E466del|SLC8A2_uc010xyr.2_In_Frame_Del_p.E173del			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													---	94	---	---	7	---