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
MANBA	4126	broad.mit.edu	37	4	103585962	103585962	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:103585962A>C	uc003hwg.3	-	10	1465	c.1365T>G	c.(1363-1365)aaT>aaG	p.N455K	MANBA_uc011ces.2_Missense_Mutation_p.N398K	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	455					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CATTTTCATTATTGCCACTCC	0.338000														196			4		0	0	0.009096	0	0
POLR2A	5430	broad.mit.edu	37	17	7402446	7402446	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:7402446G>A	uc002ghf.4	+	8	1810	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	POLR2A_uc002ghe.3_Missense_Mutation_p.R475H	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	475					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding	p.R475H(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CATCGGGTCCGCATTCTCCCA	0.562000														477			7		0	0	0.001984	0	0
TOP2B	7155	broad.mit.edu	37	3	25646332	25646332	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:25646332C>A	uc003cdj.2	-	32	4436	c.4393G>T	c.(4393-4395)Gat>Tat	p.D1465Y	TOP2B_uc011awm.1_Missense_Mutation_p.D322Y	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	1470					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	p.D1465Y(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GAAGCAGAATCTTCTTCATTA	0.313000														16			6		8.12818e-05	8.9879e-05	0.001984	1	0
PYROXD2	84795	broad.mit.edu	37	10	100167696	100167696	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr10:100167696A>G	uc001kpc.3	-	2	292	c.206T>C	c.(205-207)aTc>aCc	p.I69T	PYROXD2_uc001kpb.3_Non-coding_Transcript|PYROXD2_uc010qpe.2_Missense_Mutation_p.I69T	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	69							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TGCACCCCCGATCACATGGCG	0.627000														22			11		0	0	0.013537	0	0
IMMT	10989	broad.mit.edu	37	2	86371415	86371415	+	Silent	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:86371415T>G	uc002sqz.4	-	14	2641	c.2253A>C	c.(2251-2253)ggA>ggC	p.G751G	IMMT_uc002sqy.4_Silent_p.G492G|IMMT_uc010yte.2_Silent_p.G704G|IMMT_uc002srb.4_Silent_p.G740G|IMMT_uc002sra.4_Silent_p.G750G|IMMT_uc010ytd.2_Silent_p.G739G	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	751						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGAGTGGTTCCTATTCCTA	0.478000														65			53		0	0	0.014410	0	0
CCDC63	160762	broad.mit.edu	37	12	111321841	111321841	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:111321841G>C	uc001trv.1	+	7	1056	c.861G>C	c.(859-861)aaG>aaC	p.K287N	CCDC63_uc010sye.1_Missense_Mutation_p.K247N|CCDC63_uc001trw.1_Missense_Mutation_p.K202N	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	287										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAGCTCTCAAGGCAAAGAAGC	0.502000														225			238		0	0	0.014410	0	0
RFX2	5990	broad.mit.edu	37	19	6013026	6013026	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr19:6013026C>T	uc002meb.3	-	7	1139	c.870G>A	c.(868-870)atG>atA	p.M290I	RFX2_uc002mec.3_Missense_Mutation_p.M265I	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCTGCTGCCGCATGGCCATGT	0.617000														193			133		0	0	0.014410	0	0
CERS2	29956	broad.mit.edu	37	1	150940937	150940937	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:150940937C>T	uc001evy.3	-	2	651	c.225G>A	c.(223-225)cgG>cgA	p.R75R	CERS2_uc001evz.3_Silent_p.R75R|CERS2_uc009wmh.3_5'UTR	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA.	75						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GTGCCCGCAGCCGAGTTTTCT	0.557000														106			16		0	0	0.004990	0	0
COL17A1	1308	broad.mit.edu	37	10	105793764	105793764	+	Silent	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr10:105793764A>G	uc001kxr.3	-	51	4264	c.4095T>C	c.(4093-4095)gcT>gcC	p.A1365A	COL17A1_uc001kxq.3_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1365	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGCAAAGTCAGCTCCCAATA	0.587000														125			44		0	0	0.014410	0	0
QRICH2	84074	broad.mit.edu	37	17	74283337	74283337	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:74283337T>A	uc002jrd.1	-	6	3629	c.3449A>T	c.(3448-3450)cAa>cTa	p.Q1150L	QRICH2_uc010dgw.1_5'UTR	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1150							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GCCCCTGTCTTGGCTCTCCCT	0.567000														108			49		0	0	0.014410	0	0
SOX10	6663	broad.mit.edu	37	22	38374016	38374016	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr22:38374016C>T	uc003aun.1	-	2	833	c.555G>A	c.(553-555)caG>caA	p.Q185Q	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Silent_p.Q185Q	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	185						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCGCCTCGCCCTGGGCGGCCT	0.682000														34			23		0	0	0.021523	0	0
PSMC4	5704	broad.mit.edu	37	19	40486339	40486339	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr19:40486339T>C	uc002omq.3	+	8	1102	c.1065T>C	c.(1063-1065)tcT>tcC	p.S355S	PSMC4_uc002omr.3_Silent_p.S324S	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	355					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAACCTCTCTGAGGAGGTTG	0.517000														266			166		0	0	0.014410	0	0
SMG1	23049	broad.mit.edu	37	16	18844471	18844471	+	Silent	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr16:18844471G>A	uc002dfm.3	-	50	8946	c.8583C>T	c.(8581-8583)ttC>ttT	p.F2861F	SMG1_uc010bwb.3_Silent_p.F2721F|SMG1_uc010bwa.3_Silent_p.F1592F	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2861					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGATTTGCCGGAAATTCGAAT	0.338000														14			8		0	0	0.006214	0	0
HDHD2	84064	broad.mit.edu	37	18	44662721	44662721	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr18:44662721T>C	uc002lcs.3	-	1	223	c.90A>G	c.(88-90)gaA>gaG	p.E30E	HDHD2_uc002lct.3_5'UTR	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.	30							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TTTTAAGAGCTTCCTGTGCGC	0.463000														97			46		0	0	0.014410	0	0
PROM1	8842	broad.mit.edu	37	4	15989318	15989318	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:15989318T>G	uc003goo.2	-	18	2310	c.2098A>C	c.(2098-2100)Aag>Cag	p.K700Q	PROM1_uc003gor.2_Missense_Mutation_p.K700Q|PROM1_uc003gos.2_Missense_Mutation_p.K691Q|PROM1_uc003got.2_Missense_Mutation_p.K700Q|PROM1_uc003gou.2_Missense_Mutation_p.K691Q|PROM1_uc003gop.2_Missense_Mutation_p.K691Q|PROM1_uc003goq.3_Missense_Mutation_p.K691Q	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	700					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TGAAGTATCTTGACGCTTTGG	0.383000														379			6		0	0	0.001168	0	0
TMCC2	9911	broad.mit.edu	37	1	205238546	205238546	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:205238546G>T	uc021pia.1	+	2	1871	c.1216G>T	c.(1216-1218)Gtc>Ttc	p.V406F	TMCC2_uc010prf.2_Missense_Mutation_p.V328F|TMCC2_uc001hca.3_Missense_Mutation_p.V181F|TMCC2_uc001hcb.2_Missense_Mutation_p.V166F|TMCC2_uc001hcc.2_Missense_Mutation_p.V27F|TMCC2_uc001hcd.3_Missense_Mutation_p.V173F	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	406						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGTGGAGGGCGTCAAGGGCAG	0.682000														52			39		1.32136e-16	1.53491e-16	0.008740	1	0
KCTD11	147040	broad.mit.edu	37	17	7256830	7256830	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:7256830T>G	uc002gge.4	+	0	1623	c.569T>G	c.(568-570)gTg>gGg	p.V190G	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA.	190					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E189G(1)		kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CGGCGGGAGGTGGTGGGCACC	0.692000														70			6		0	0	0.012319	0	0
GYS2	2998	broad.mit.edu	37	12	21757442	21757442	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:21757442G>T	uc001rfb.3	-	0	340	c.85C>A	c.(85-87)Ctg>Atg	p.L29M		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	29					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAAAGAGCAGTAACTCCTCC	0.493000														10			12		9.05144e-12	1.02051e-11	0.016723	1	0
PCDH20	64881	broad.mit.edu	37	13	61987658	61987658	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr13:61987658A>G	uc001vid.4	-	1	938	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	PCDH20_uc010thj.2_Missense_Mutation_p.F192L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	165	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACCTTCACAAACCTGAAGTAT	0.532000														210			14		0	0	0.004990	0	0
CDKL2	8999	broad.mit.edu	37	4	76532405	76532405	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:76532405T>C	uc011cbp.2	-	3	1029	c.504A>G	c.(502-504)agA>agG	p.R168R	CDKL2_uc003hiq.3_Silent_p.R168R|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	168	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GTTCTGGAGCTCTGTACCATC	0.453000														67			34		0	0	0.015359	0	0
TAB1	10454	broad.mit.edu	37	22	39771987	39771987	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr22:39771987A>C	uc003axr.3	+	1	1828	c.46A>C	c.(46-48)Att>Ctt	p.I16L	TAB1_uc003axo.4_Intron|TAB1_uc003axq.4_Intron|TAB1_uc003axs.4_Intron	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	0					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CGGCTTCCCCATTTTCTCCCC	0.612000														235			16		0	0	0.006320	0	0
ZAN	7455	broad.mit.edu	37	7	100383746	100383746	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr7:100383746G>T	uc003uwj.3	+	37	7124	c.6959G>T	c.(6958-6960)aGc>aTc	p.S2320I	ZAN_uc003uwk.3_Missense_Mutation_p.S2320I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.S371I	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2321	VWFC 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACAGCAACAGCAATTGTGTC	0.632000														210			239		1.72261e-137	2.10745e-137	0.014410	1	0
FAM75D1	389763	broad.mit.edu	37	9	84608132	84608132	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr9:84608132G>A	uc004amn.3	+	3	2794	c.2747G>A	c.(2746-2748)tGg>tAg	p.W916*		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	916						integral to membrane		p.L915L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AGGATGCTGTGGGGCCTTCCC	0.463000														36			14		0	0	0.003163	0	0
GTF2H4	2968	broad.mit.edu	37	6	30876923	30876923	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr6:30876923A>C	uc003nsa.1	+	1	317	c.110A>C	c.(109-111)cAc>cCc	p.H37P	GTF2H4_uc010jsf.2_Missense_Mutation_p.H37P|GTF2H4_uc011dmv.1_Intron	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	37					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TTGTATGGGCACCCTGCCACA	0.517000								Nucleotide excision repair (NER)						28			5		0	0	0.007413	0	0
RAB34	83871	broad.mit.edu	37	17	27045260	27045260	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:27045260A>C	uc010was.1	-	0	27	c.26T>G	c.(25-27)tTg>tGg	p.L9W	RAB34_uc002hce.2_5'Flank|RAB34_uc002hcg.2_5'Flank|RAB34_uc010wat.1_Missense_Mutation_p.L9W|RAB34_uc002hch.2_5'UTR|RAB34_uc010wau.1_5'UTR|RAB34_uc010wav.1_Missense_Mutation_p.L9W|RPL23A_uc002hci.3_5'Flank|RPL23A_uc021ttu.1_5'Flank|SNORD42B_uc002hcj.1_5'Flank	NM_001144943	NP_114140	Q9BZG1	RAB34_HUMAN	Homo sapiens RAB34, member RAS oncogene family (RAB34), transcript variant 8, mRNA.	0					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TTCCCTCCTCAACTCCAGGCC	0.662000														23			9		0	0	0.008291	0	0
SNTB1	6641	broad.mit.edu	37	8	121587444	121587444	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr8:121587444G>A	uc010mdg.3	-	3	1244	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	SNTB1_uc003ype.3_Nonsense_Mutation_p.Q340*	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	340	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GGTTTCCACTGTTTCTTGCTC	0.483000														40			13		0	0	0.020292	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586819	42586819	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr8:42586819C>T	uc003xpi.1	+	4	497	c.369C>T	c.(367-369)ggC>ggT	p.G123G		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	123					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTGCTGACGGCCGCTTCGAAG	0.502000														96			4		0	0	0.009096	0	0
POSTN	10631	broad.mit.edu	37	13	38154716	38154716	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr13:38154716T>G	uc001uwo.4	-	10	1629	c.1511A>C	c.(1510-1512)aAa>aCa	p.K504T	POSTN_uc010tet.2_Missense_Mutation_p.K32T|POSTN_uc001uwp.4_Missense_Mutation_p.K504T|POSTN_uc001uwr.3_Missense_Mutation_p.K504T|POSTN_uc001uwq.3_Missense_Mutation_p.K504T|POSTN_uc010teu.1_Missense_Mutation_p.K504T|POSTN_uc010tev.1_Missense_Mutation_p.K504T|POSTN_uc010tew.1_Missense_Mutation_p.K504T|POSTN_uc010tex.1_Missense_Mutation_p.K419T	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	504	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.L503*(1)|p.K504K(1)|p.K504E(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTATCTTGTTTTAACTTTTC	0.438000														47			22		0	0	0.018920	0	0
RUFY3	22902	broad.mit.edu	37	4	71659564	71659564	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:71659564A>G	uc003hfr.3	+	12	1995	c.1400A>G	c.(1399-1401)gAc>gGc	p.D467G	RUFY3_uc011cay.2_Missense_Mutation_p.D403G	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	303					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TTCAAACAGGACTTTGGAGAC	0.527000														46			23		0	0	0.006320	0	0
PAOX	196743	broad.mit.edu	37	10	135193909	135193909	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr10:135193909C>T	uc001lmv.3	+	1	668	c.588C>T	c.(586-588)ggC>ggT	p.G196G	PAOX_uc001lmx.3_Silent_p.G196G|PAOX_uc001lmy.3_Silent_p.G196G|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Intron|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Intron|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	334					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GTGTGAGCGGCACCCACAGCA	0.622000														92			10		0	0	0.006214	0	0
GIGYF2	26058	broad.mit.edu	37	2	233681744	233681744	+	Splice_Site	SNP	T	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:233681744T>A	uc002vtj.4	+	22	2700	c.2433_splice	c.e22+2	p.Q811_splice	GIGYF2_uc002vtg.2_Splice_Site_p.Q784_splice|GIGYF2_uc002vti.4_Splice_Site_p.Q790_splice|GIGYF2_uc002vtk.4_Splice_Site_p.Q790_splice|GIGYF2_uc002vth.4_Splice_Site_p.Q784_splice|GIGYF2_uc010zmk.2_Splice_Site|GIGYF2_uc010zml.1_Splice_Site_p.Q621_splice|GIGYF2_uc002vtq.4_Splice_Site_p.Q123_splice	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	790	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGGAAACAGGTATGTATCTGG	0.468000														62			19		0	0	0.006122	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808956	48808956	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:48808956A>G	uc002rwp.2	+	1	1298	c.1184A>G	c.(1183-1185)gAg>gGg	p.E395G	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E395G|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.E395G|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.E395G|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E395G	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	395					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTGTGGAGGAGGAGCTGATG	0.433000														21			11		0	0	0.020292	0	0
DDR1	780	broad.mit.edu	37	6	30857025	30857025	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr6:30857025G>A	uc003nrv.3	+	2	277	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	DDR1_uc010jse.3_Missense_Mutation_p.V79M|DDR1_uc003nrq.3_Missense_Mutation_p.V79M|DDR1_uc003nrr.3_Missense_Mutation_p.V79M|DDR1_uc003nrs.3_Missense_Mutation_p.V79M|DDR1_uc003nrt.3_Missense_Mutation_p.V79M|DDR1_uc011dms.2_Missense_Mutation_p.V97M|DDR1_uc011dmt.2_Missense_Mutation_p.V105M|DDR1_uc003nru.3_Missense_Mutation_p.V79M|DDR1_uc011dmu.1_Missense_Mutation_p.V79M|DDR1_uc003nry.2_Missense_Mutation_p.V79M|DDR1_uc003nrx.2_Missense_Mutation_p.V79M|MIR4640_uc021yue.1_5'Flank|DDR1_uc003nrw.1_5'Flank	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	79	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGCAGGGTCGGTGTTTCCCAA	0.647000														362			184		0	0	0.014410	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887763	47887763	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr20:47887763T>C	uc002xui.3	-	2	833	c.586A>G	c.(586-588)Agc>Ggc	p.S196G		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	196							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATTTTGGAGCTACAAGCCTTC	0.448000														122			121		0	0	0.014410	0	0
SRCAP	10847	broad.mit.edu	37	16	30732089	30732089	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr16:30732089C>A	uc002dze.1	+	19	3428	c.3043C>A	c.(3043-3045)Cca>Aca	p.P1015T	SRCAP_uc021tgn.1_Missense_Mutation_p.P1015T|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P872T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1015	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)			GGTGAACAACCCACGGGCGCC	0.602000														193			102		8.43681e-56	1.01066e-55	0.014410	1	0
MYO5B	4645	broad.mit.edu	37	18	47500737	47500737	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr18:47500737C>T	uc002leb.2	-	9	1593	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	MYO5B_uc021ukb.1_Silent_p.G434G	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	435	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGTCCAGGACCCCGATGAAGG	0.582000														95			39		0	0	0.006230	0	0
ROS1	6098	broad.mit.edu	37	6	117622147	117622147	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr6:117622147T>G	uc003pxp.1	-	41	6922	c.6723A>C	c.(6721-6723)gaA>gaC	p.E2241D	ROS1_uc011ebi.1_Non-coding_Transcript|RN7SK_uc021zee.1_5'Flank	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2241					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTCAAAGCTTTCATTTATGA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									46			5		0	0	0.004007	0	0
GNAZ	2781	broad.mit.edu	37	22	23438484	23438484	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr22:23438484A>G	uc002zwu.1	+	1	1139	c.602A>G	c.(601-603)gAc>gGc	p.D201G	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	201						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.D201D(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AAGATGGTGGACGTGGGGGGG	0.567000														275			91		0	0	0.014410	0	0
HPX	3263	broad.mit.edu	37	11	6453151	6453151	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr11:6453151G>C	uc001mdg.2	-	7	993	c.932C>G	c.(931-933)gCc>gGc	p.A311G	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	311	Hemopexin-like 5.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CCAGGAAAAGGCAGCATCCAC	0.542000														206			101		0	0	0.014410	0	0
LOC284100	284100	broad.mit.edu	37	17	36214775	36214775	+	RNA	SNP	G	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:36214775G>T	uc002hom.1	-	1		c.184C>A			LOC284100_uc002hon.1_Non-coding_Transcript					Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide pseudogene (LOC284100), non-coding RNA.									p.T41N(6)		endometrium(6)|kidney(1)	7						CTTGCCAGTGGTAGCTGCTGG	0.353000														14			11		1.67772e-17	1.96875e-17	0.010729	1	0
SCN10A	6336	broad.mit.edu	37	3	38835251	38835251	+	Missense_Mutation	SNP	G	A	A	rs140609990		TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:38835251G>A	uc003ciq.3	-	0	251	c.251C>T	c.(250-252)cCg>cTg	p.P84L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	84					sensory perception	voltage-gated sodium channel complex		p.P84P(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTGTAGAACGGATCTAGATC	0.572000														81			43		0	0	0.010771	0	0
MGAM	8972	broad.mit.edu	37	7	141800677	141800677	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr7:141800677T>G	uc003vwy.3	+	44	5316	c.5262T>G	c.(5260-5262)gaT>gaG	p.D1754E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1754	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGGGATGATGGGCAAAGCA	0.502000														14			13		0	0	0.003163	0	0
ATP6V1A	523	broad.mit.edu	37	3	113503595	113503595	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:113503595C>G	uc003eao.3	+	4	587	c.479C>G	c.(478-480)tCg>tGg	p.S160W	ATP6V1A_uc011bik.2_Missense_Mutation_p.S127W	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	160					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTGAGAACTCGCTTATCAAA	0.368000														67			43		0	0	0.010771	0	0
ASB15	142685	broad.mit.edu	37	7	123264837	123264837	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr7:123264837C>A	uc003vku.1	+	7	958	c.666C>A	c.(664-666)caC>caA	p.H222Q	ASB15_uc003vkv.1_Missense_Mutation_p.H222Q|ASB15_uc003vkw.1_Missense_Mutation_p.H222Q	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	222					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGTATGGTCACTGTGACGTGT	0.468000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			19		0.000132079	0.000144658	0.008871	1	0
STXBP5L	9515	broad.mit.edu	37	3	120978006	120978006	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:120978006C>G	uc003eec.4	+	17	2089	c.1949C>G	c.(1948-1950)gCa>gGa	p.A650G	STXBP5L_uc011bji.2_Missense_Mutation_p.A650G	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	650					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTAAGCTCAGCATATGGAATG	0.338000														12			2		0	0	0.004672	0	0
BMP1	649	broad.mit.edu	37	8	22022973	22022973	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr8:22022973C>A	uc003xbg.3	+	0	321	c.55C>A	c.(55-57)Ccc>Acc	p.P19T	BMP1_uc011kzb.2_Non-coding_Transcript|BMP1_uc003xbf.3_5'UTR|BMP1_uc003xbb.3_Missense_Mutation_p.P19T|BMP1_uc003xbc.3_5'UTR|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_5'UTR|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	19					cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCTCCCGCGTCCCGGCCGGCC	0.736000														18			4		0.000157383	0.000170746	0.003080	1	0
PCDH18	54510	broad.mit.edu	37	4	138450855	138450855	+	Silent	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:138450855G>A	uc003ihe.4	-	0	2775	c.2388C>T	c.(2386-2388)caC>caT	p.H796H	PCDH18_uc003ihf.4_Silent_p.H789H|PCDH18_uc011cgz.2_Silent_p.H7H|PCDH18_uc003ihg.4_Silent_p.H576H|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	796					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGTGACTGTTGTGACTCTGCC	0.498000														10			6		0	0	0.003080	0	0
ZNF214	7761	broad.mit.edu	37	11	7021930	7021930	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr11:7021930C>T	uc009yfh.1	-	2	1283	c.984G>A	c.(982-984)gaG>gaA	p.E328E	ZNF214_uc001mfa.2_Silent_p.E328E|ZNF214_uc010ray.1_Silent_p.E328E	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TATAGAATTTCTCTTCTGTGT	0.383000														20			3		0	0	0.004672	0	0
RAF1	5894	broad.mit.edu	37	3	12633229	12633229	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:12633229T>A	uc003bxf.4	-	10	1586	c.1171A>T	c.(1171-1173)Agg>Tgg	p.R391W	RAF1_uc011aut.2_Missense_Mutation_p.R176W|RAF1_uc011auu.2_Missense_Mutation_p.R309W	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	391	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ACCTCATTCCTGAAGGCCTGG	0.507000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					79			47		0	0	0.014410	0	0
SLX4	84464	broad.mit.edu	37	16	3641173	3641173	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr16:3641173C>G	uc002cvp.2	-	11	3093	c.2466G>C	c.(2464-2466)atG>atC	p.M822I		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	822	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CATCTGCCCACATTGACCTCA	0.468000								Direct reversal of damage						288			135		0	0	0.014410	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7670197	7670197	+	Silent	SNP	G	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr19:7670197G>T	uc002mgu.4	+	1	335	c.234G>T	c.(232-234)ctG>ctT	p.L78L	CAMSAP3_uc002mgv.4_Silent_p.L78L	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	78					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	p.L78L(5)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CACGGCTGCTGCTCTCAGCCG	0.667000														155			12		3.45872e-05	3.86167e-05	0.004007	1	0
FGF21	26291	broad.mit.edu	37	19	49261265	49261265	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr19:49261265C>A	uc002pkn.1	+	3	990	c.418C>A	c.(418-420)Cac>Aac	p.H140N	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.H140N	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	140					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GTCCGAAGCCCACGGCCTCCC	0.632000														215			140		5.13159e-70	6.21192e-70	0.014410	1	0
MLX	6945	broad.mit.edu	37	17	40725220	40725220	+	Splice_Site	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:40725220C>G	uc002iag.3	+	8	2562	c.2497_splice	c.e8+1		MLX_uc002iaf.3_Splice_Site|MLX_uc002iah.3_Splice_Site|PSMC3IP_uc002iaj.3_Intron|PSMC3IP_uc010wgp.1_Intron|PSMC3IP_uc002iai.2_Intron|PSMC3IP_uc002iak.2_Intron|PSMC3IP_uc010wgn.1_Intron|PSMC3IP_uc010wgo.1_Intron	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	Homo sapiens MAX-like protein X (MLX), transcript variant 3, mRNA.						energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TTCAGATGGGCAGCACTGGGC	0.502000														86			6		0	0	0.003080	0	0
CD40	958	broad.mit.edu	37	20	44757638	44757638	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr20:44757638G>C	uc002xrg.1	+	8	870	c.793G>C	c.(793-795)Gat>Cat	p.D265H	CD40_uc002xrh.1_3'UTR|CD40_uc002xrj.1_Non-coding_Transcript|CD40_uc002xrk.1_Non-coding_Transcript	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	265					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of endothelial cell apoptosis|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CACCCAGGAGGATGGCAAAGA	0.582000									Immune Deficiency with Hyper-IgM					208			58		0	0	0.014410	0	0
PLCB2	5330	broad.mit.edu	37	15	40594160	40594160	+	Nonsense_Mutation	SNP	T	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:40594160T>A	uc001zld.3	-	6	881	c.580A>T	c.(580-582)Aaa>Taa	p.K194*	PLCB2_uc010bbo.3_Nonsense_Mutation_p.K194*|PLCB2_uc010ucm.2_Nonsense_Mutation_p.K194*|PLCB2_uc001zle.4_Nonsense_Mutation_p.K194*	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	194					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G193D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCACTCACTTTGCCTTTGGGG	0.582000														82			39		0	0	0.011902	0	0
abParts	0	broad.mit.edu	37	14	106791229	106791229	+	RNA	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr14:106791229C>T	uc021ser.1	-	619		c.17163G>A								Parts of antibodies, mostly variable regions.																		AATCCAGAGGCTGCACAGGAG	0.587000														345			72		0	0	0.014410	0	0
CNGB1	1258	broad.mit.edu	37	16	57984372	57984372	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr16:57984372G>A	uc002emt.2	-	12	1012	c.947C>T	c.(946-948)gCc>gTc	p.A316V	CNGB1_uc010cdh.2_Missense_Mutation_p.A310V	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	316					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						ATCCTGGTGGGCATCCTCCCA	0.552000														224			5		0	0	0.014758	0	0
ELTD1	64123	broad.mit.edu	37	1	79402059	79402059	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:79402059T>C	uc001diq.4	-	6	954	c.798A>G	c.(796-798)aaA>aaG	p.K266K		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	266					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GATGAATATGTTTCATGTTAT	0.259000														54			3		0	0	0.004672	0	0
MYH7	4625	broad.mit.edu	37	14	23886422	23886422	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr14:23886422C>T	uc001wjx.3	-	31	4565	c.4459G>A	c.(4459-4461)Gcc>Acc	p.A1487T		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1487					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCATAGGCGTTCTTGAGT	0.597000														296			135		0	0	0.014410	0	0
LRIG2	9860	broad.mit.edu	37	1	113616063	113616063	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:113616063A>T	uc001edf.1	+	0	233	c.35A>T	c.(34-36)cAg>cTg	p.Q12L	LRIG2_uc009wgn.1_5'UTR|BC037540_uc001ede.1_5'Flank	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	12						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CCGGAGGAGCAGTTGCTGGGG	0.642000											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		300			167		0	0	0.014410	0	0
ZFP41	286128	broad.mit.edu	37	8	144332048	144332048	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr8:144332048C>T	uc003yxw.3	+	1	393	c.35C>T	c.(34-36)cCg>cTg	p.P12L	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Missense_Mutation_p.P12L	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	12					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AAGAAGACGCCGACCCCAAGG	0.592000														25			11		0	0	0.010729	0	0
CALML4	91860	broad.mit.edu	37	15	68497600	68497600	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:68497600T>G	uc002arb.3	-	0	849	c.115A>C	c.(115-117)Agc>Cgc	p.S39R	CALML4_uc002arc.3_Missense_Mutation_p.S39R|CALML4_uc002ard.3_Non-coding_Transcript|CALML4_uc002are.3_Non-coding_Transcript|CALML4_uc010bhz.3_Non-coding_Transcript	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN	Homo sapiens calmodulin-like 4 (CALML4), transcript variant 1, mRNA.	39							calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						GGGCCTCGGCTGCTACCCGTG	0.612000														109			37		0	0	0.014410	0	0
ZZEF1	23140	broad.mit.edu	37	17	3953114	3953114	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:3953114C>T	uc002fxe.3	-	36	5967	c.5903G>A	c.(5902-5904)gGg>gAg	p.G1968E	ZZEF1_uc002fxh.3_Missense_Mutation_p.G282E|ZZEF1_uc002fxi.3_Missense_Mutation_p.G203E|ZZEF1_uc002fxj.1_Missense_Mutation_p.G581E	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1968							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCTCGAGTCCCCATCTGGCAA	0.498000														165			27		0	0	0.014410	0	0
TBCD	6904	broad.mit.edu	37	17	80888515	80888515	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:80888515G>C	uc002kfy.1	+	32	3239	c.3109G>C	c.(3109-3111)Gag>Cag	p.E1037Q	TBCD_uc002kfz.3_Missense_Mutation_p.E1037Q|TBCD_uc002kgd.3_Missense_Mutation_p.E29Q	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	1037					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCTTCTGAATGAGAGGTGAGT	0.597000														96			31		0	0	0.015359	0	0
GLDN	342035	broad.mit.edu	37	15	51693835	51693835	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:51693835G>A	uc002aba.3	+	8	1242	c.1073G>A	c.(1072-1074)gGc>gAc	p.G358D	GLDN_uc002abb.3_Missense_Mutation_p.G234D	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	358	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CTTCTGAATGGCAGTTACACG	0.483000											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		150			79		0	0	0.014410	0	0
MXRA5	25878	broad.mit.edu	37	X	3238719	3238719	+	Silent	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chrX:3238719A>G	uc004crg.4	-	4	5164	c.5007T>C	c.(5005-5007)agT>agC	p.S1669S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1669						extracellular region		p.S1668S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAATTGTTGTACTTGATAATC	0.438000														56			138		0	0	0.014410	0	0
RAET1L	154064	broad.mit.edu	37	6	150342042	150342042	+	Splice_Site	SNP	T	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr6:150342042T>A	uc011eei.2	-	3	692	c.631_splice	c.e3+1	p.A211_splice		NM_130900	NP_570970	Q5VY80	RET1L_HUMAN	Homo sapiens retinoic acid early transcript 1L (RAET1L), mRNA.	211					antigen processing and presentation|immune response	MHC class I protein complex|anchored to membrane				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		TCCTGTTACCTCCTGCACTTG	0.468000														206			80		0	0	0.014410	0	0
KIAA0907	22889	broad.mit.edu	37	1	155899153	155899153	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:155899153C>G	uc001fmi.1	-	3	422	c.398G>C	c.(397-399)aGt>aCt	p.S133T	KIAA0907_uc001fmj.1_Missense_Mutation_p.S133T|KIAA0907_uc009wrl.1_Non-coding_Transcript|KIAA0907_uc001fml.1_Missense_Mutation_p.S133T|KIAA0907_uc001fmm.3_Missense_Mutation_p.S133T|KIAA0907_uc001fmo.3_Missense_Mutation_p.S133T	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	133										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TGCAGCCCCACTAAGTCGGCT	0.408000														111			50		0	0	0.014410	0	0
TSFM	10102	broad.mit.edu	37	12	58177005	58177005	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:58177005C>T	uc001sqi.3	+	1	227	c.170C>T	c.(169-171)aCa>aTa	p.T57I	TSFM_uc021qzq.1_Missense_Mutation_p.T57I|TSFM_uc001sqh.3_Missense_Mutation_p.T57I|TSFM_uc010ssf.2_Missense_Mutation_p.T57I|TSFM_uc010sse.2_5'UTR	NM_005726	NP_005717	P43897	EFTS_HUMAN	Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	57					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CGGCGGAAAACAGGCTACTCC	0.582000											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		329			99		0	0	0.014410	0	0
PTPRE	5791	broad.mit.edu	37	10	129859261	129859261	+	Silent	SNP	C	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr10:129859261C>A	uc009yat.3	+	8	1020	c.603C>A	c.(601-603)atC>atA	p.I201I	PTPRE_uc001lkb.3_Silent_p.I190I|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Silent_p.I190I|PTPRE_uc001lkd.3_Silent_p.I132I|PTPRE_uc010quq.1_Silent_p.I91I	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	190	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.E200K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CAGACTACATCAATGCTTCCT	0.483000														109			58		6.09941e-20	7.23125e-20	0.014410	1	0
FBXO11	80204	broad.mit.edu	37	2	48050458	48050458	+	Silent	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:48050458T>G	uc002rwe.3	-	11	1513	c.1440A>C	c.(1438-1440)gcA>gcC	p.A480A	FBXO11_uc010fbl.3_Silent_p.A396A|FBXO11_uc002rwg.2_Silent_p.A480A|FBXO11_uc010fbk.3_5'UTR|FBXO11_uc021vhe.1_Silent_p.A280A	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	480					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTCAAAGCCTGCTATCCTAT	0.373000			"""Mis, F, D"""		DLBCL									27			29		0	0	0.009535	0	0
USF1	7391	broad.mit.edu	37	1	161011569	161011569	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:161011569T>C	uc001fxi.3	-	5	539	c.344A>G	c.(343-345)cAc>cGc	p.H115R	F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Missense_Mutation_p.H56R	NM_007122	NP_996888	P22415	USF1_HUMAN	Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA.	115					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTAAGTATAGTGCGTCTCAGC	0.572000											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		140			19		0	0	0.012319	0	0
MYO9A	4649	broad.mit.edu	37	15	72192125	72192125	+	Silent	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:72192125T>G	uc002atl.4	-	23	3846	c.3373A>C	c.(3373-3375)Aga>Cga	p.R1125R	MYO9A_uc010biq.3_Silent_p.R745R|MYO9A_uc002atn.1_Silent_p.R1106R|MYO9A_uc002atk.3_5'Flank|MYO9A_uc002atm.1_5'Flank	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1125	IQ 4.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCTTTCCATCTTGCTTGTATG	0.438000														42			19		0	0	0.010504	0	0
LOC642846	642846	broad.mit.edu	37	12	9463773	9463773	+	RNA	SNP	G	A	A	rs111854872	by1000genomes	TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:9463773G>A	uc001qvp.2	+	11		c.999G>A			LOC642846_uc010sgp.1_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.																		TAACCTGTGCGGTGTGGTTTC	0.627000														188			6		0	0	0.020292	0	0
NSUN5P1	155400	broad.mit.edu	37	7	75045841	75045841	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr7:75045841A>G	uc003udh.1	+	3	608	c.565A>G	c.(565-567)Aga>Gga	p.R189G						Homo sapiens NOP2/Sun domain family, member 5 pseudogene 1 (NSUN5P1), non-coding RNA.											large_intestine(1)|lung(1)	2						GAGACAGCAAAGAGCCGCAGC	0.572000														86			63		0	0	0.014410	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr20:29628300G>A	uc010ztl.1	+	2	244	c.212G>A	c.(211-213)aGt>aAt	p.S71N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000														22			3		0	0	0.004672	0	0
ABCE1	6059	broad.mit.edu	37	4	146041306	146041306	+	Splice_Site	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:146041306G>A	uc003ijx.3	+	11	1584	c.1144_splice	c.e11+1	p.G382_splice	ABCE1_uc003ijy.3_Splice_Site_p.G382_splice|ABCE1_uc010iot.3_Splice_Site	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	382	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GGGGAAAATGGTAAGTTTTCT	0.313000														11			7		0	0	0.001984	0	0
CTPS2	56474	broad.mit.edu	37	X	16685795	16685795	+	Silent	SNP	A	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chrX:16685795A>C	uc004cxk.3	-	11	1986	c.1242T>G	c.(1240-1242)ctT>ctG	p.L414L	CTPS2_uc004cxl.3_Silent_p.L414L|CTPS2_uc004cxm.3_Silent_p.L414L	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	414	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CTTTCAAGTTAAGGCAGTTTC	0.323000														34			103		0	0	0.014410	0	0
GIPR	2696	broad.mit.edu	37	19	46184876	46184876	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr19:46184876C>G	uc002pcu.1	+	12	1266	c.1167C>G	c.(1165-1167)agC>agG	p.S389R	GIPR_uc002pct.1_Missense_Mutation_p.S389R|GIPR_uc010xxp.1_Missense_Mutation_p.S353R|GIPR_uc010xxq.1_Non-coding_Transcript	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	389					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TCCTGGTCAGCGTCCTCTACT	0.677000														65			29		0	0	0.012213	0	0
VWC2L	402117	broad.mit.edu	37	2	215440518	215440518	+	Nonsense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:215440518G>T	uc002vet.2	+	3	773	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	VWC2L_uc010zjl.1_3'UTR	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	215						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTCGAAACGTGAATGCCAAGG	0.458000														57			15		6.49762e-13	7.39828e-13	0.006122	1	0
LEPRE1	64175	broad.mit.edu	37	1	43228097	43228097	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:43228097C>T	uc001chx.4	-	1	628	c.515G>A	c.(514-516)gGc>gAc	p.G172D	LEPRE1_uc001chw.2_Missense_Mutation_p.G172D|LEPRE1_uc001chv.2_Missense_Mutation_p.G172D|LEPRE1_uc001chy.4_Missense_Mutation_p.G172D	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	172					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.V171V(1)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCAGGATTGCCCACGAAGAA	0.468000														255			5		0	0	0.014758	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005213	101005213	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr14:101005213C>T	uc010txa.2	-	5	1021	c.875G>A	c.(874-876)gGc>gAc	p.G292D	BEGAIN_uc001yhp.3_Missense_Mutation_p.G228D|BEGAIN_uc001yhq.3_Missense_Mutation_p.G292D	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	292						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GGGCAGTGAGCCTGCGTAGCT	0.701000														25			3		0	0	0.009096	0	0
CABIN1	23523	broad.mit.edu	37	22	24447425	24447425	+	Silent	SNP	T	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr22:24447425T>A	uc002zzi.1	+	7	922	c.795T>A	c.(793-795)atT>atA	p.I265I	CABIN1_uc021wnc.1_Intron|CABIN1_uc002zzj.1_Intron|CABIN1_uc002zzl.2_Silent_p.I265I|CABIN1_uc010guk.1_Silent_p.I220I|CABIN1_uc002zzk.2_Silent_p.I220I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	265					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCAGCCCATTCCTTTCTTCA	0.577000														62			37		0	0	0.006230	0	0
AK300121	0	broad.mit.edu	37	12	52646173	52646173	+	Silent	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:52646173A>G	uc010snr.1	-	6	963	c.615T>C	c.(613-615)ggT>ggC	p.G205G	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		TCTGCAGGGCACCCTCCAGCT	0.642000														174			4		0	0	0.003080	0	0
PREP	5550	broad.mit.edu	37	6	105825364	105825364	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr6:105825364C>G	uc003prc.3	-	2	384	c.151G>C	c.(151-153)Gtg>Ctg	p.V51L		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	51					proteolysis		serine-type endopeptidase activity	p.V51L(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AGAAATGGCACAGTAATCTTA	0.353000														62			39		0	0	0.005524	0	0
MUC17	140453	broad.mit.edu	37	7	100692247	100692247	+	Silent	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr7:100692247G>A	uc003uxp.1	+	4	12710	c.12657G>A	c.(12655-12657)acG>acA	p.T4219T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4219	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGACATTCACGGAACAGGTAA	0.507000														117			46		0	0	0.014410	0	0
DEPDC5	9681	broad.mit.edu	37	22	32193641	32193641	+	Nonsense_Mutation	SNP	A	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr22:32193641A>T	uc011alu.2	+	12	1025	c.823A>T	c.(823-825)Aaa>Taa	p.K275*	DEPDC5_uc011als.2_Nonsense_Mutation_p.K275*|DEPDC5_uc003als.3_Nonsense_Mutation_p.K275*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.K275*|DEPDC5_uc003alr.2_Nonsense_Mutation_p.K275*|DEPDC5_uc011alt.2_Nonsense_Mutation_p.K247*	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	275					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGTAACCATTAAAAAACTCTT	0.438000														30			20		0	0	0.021523	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000														41			4		0	0	0.001984	0	0
NEO1	4756	broad.mit.edu	37	15	73590762	73590762	+	Silent	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:73590762G>A	uc002avm.4	+	26	4167	c.3975G>A	c.(3973-3975)caG>caA	p.Q1325Q	NEO1_uc010ukx.2_Silent_p.Q1314Q|NEO1_uc010uky.2_Silent_p.Q1272Q|NEO1_uc002avn.4_Silent_p.Q1318Q|NEO1_uc010ukz.2_Silent_p.Q738Q	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	1325					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTGATCACCAGGACCCTGAAG	0.537000														177			4		0	0	0.009096	0	0
AMY2B	280	broad.mit.edu	37	1	104122036	104122036	+	Missense_Mutation	SNP	G	A	A	rs143243690		TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:104122036G>A	uc010ouo.2	+	21	3154	c.1450G>A	c.(1450-1452)Gtt>Att	p.V484I	AMY2B_uc001duq.3_Missense_Mutation_p.V484I|AMY2B_uc001dur.3_Missense_Mutation_p.V484I|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	484					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TAAAATCTACGTTTCTGACGA	0.323000														124			24		0	0	0.021523	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581896	84581896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:84581896C>T	uc002bjz.4	+	15	1977	c.1753C>T	c.(1753-1755)Cag>Tag	p.Q585*	ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.Q585*	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	585	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.V584V(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCGGGTGTGCAGGTCCGTGA	0.582000														170			82		0	0	0.014410	0	0
VPS13C	54832	broad.mit.edu	37	15	62221845	62221845	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:62221845C>G	uc002agz.3	-	50	6232	c.6141G>C	c.(6139-6141)aaG>aaC	p.K2047N	VPS13C_uc002aha.3_Missense_Mutation_p.K2004N|VPS13C_uc002ahb.2_Missense_Mutation_p.K2047N|VPS13C_uc002ahc.2_Missense_Mutation_p.K2004N	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2047					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATACATACAGCTTGTCAAGAA	0.368000														35			13		0	0	0.013537	0	0
TIGD2	166815	broad.mit.edu	37	4	90035227	90035227	+	Nonsense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:90035227G>T	uc003hsk.3	+	0	1260	c.1102G>T	c.(1102-1104)Gaa>Taa	p.E368*	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	Homo sapiens tigger transposable element derived 2 (TIGD2), mRNA.	368	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TGCAATTTATGAAGTGTCAAG	0.363000														18			8		0.000274275	0.000294782	0.004482	1	0
TOP2B	7155	broad.mit.edu	37	3	25646332	25646332	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:25646332C>A	uc003cdj.2	-	32	4436	c.4393G>T	c.(4393-4395)Gat>Tat	p.D1465Y	TOP2B_uc011awm.1_Missense_Mutation_p.D322Y	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	1470					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	p.D1465Y(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GAAGCAGAATCTTCTTCATTA	0.313000														81			44		1.61004e-24	1.78893e-24	0.014410	1	0
PYROXD2	84795	broad.mit.edu	37	10	100167696	100167696	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr10:100167696A>G	uc001kpc.3	-	2	292	c.206T>C	c.(205-207)aTc>aCc	p.I69T	PYROXD2_uc001kpb.3_Non-coding_Transcript|PYROXD2_uc010qpe.2_Missense_Mutation_p.I69T	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	69							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TGCACCCCCGATCACATGGCG	0.627000														12			4		0	0	0.009096	0	0
IMMT	10989	broad.mit.edu	37	2	86371415	86371415	+	Silent	SNP	T	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:86371415T>G	uc002sqz.4	-	14	2641	c.2253A>C	c.(2251-2253)ggA>ggC	p.G751G	IMMT_uc002sqy.4_Silent_p.G492G|IMMT_uc010yte.2_Silent_p.G704G|IMMT_uc002srb.4_Silent_p.G740G|IMMT_uc002sra.4_Silent_p.G750G|IMMT_uc010ytd.2_Silent_p.G739G	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	751						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGAGTGGTTCCTATTCCTA	0.478000														53			38		0	0	0.019004	0	0
CCDC63	160762	broad.mit.edu	37	12	111321841	111321841	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:111321841G>C	uc001trv.1	+	7	1056	c.861G>C	c.(859-861)aaG>aaC	p.K287N	CCDC63_uc010sye.1_Missense_Mutation_p.K247N|CCDC63_uc001trw.1_Missense_Mutation_p.K202N	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	287										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAGCTCTCAAGGCAAAGAAGC	0.502000														134			118		0	0	0.014410	0	0
NBPF12	149013	broad.mit.edu	37	1	146466030	146466030	+	Missense_Mutation	SNP	C	G	G	rs116184198	by1000genomes	TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:146466030C>G	uc010ozl.2	+	12	1647	c.1355C>G	c.(1354-1356)aCc>aGc	p.T452S		NM_017940	NP_060410			Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.											ovary(2)	2						CAGCACATCACCTTTGCCCTT	0.433000														191			7		0	0	0.003080	0	0
COL17A1	1308	broad.mit.edu	37	10	105793764	105793764	+	Silent	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr10:105793764A>G	uc001kxr.3	-	51	4264	c.4095T>C	c.(4093-4095)gcT>gcC	p.A1365A	COL17A1_uc001kxq.3_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1365	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGCAAAGTCAGCTCCCAATA	0.587000														86			33		0	0	0.015359	0	0
QRICH2	84074	broad.mit.edu	37	17	74283337	74283337	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:74283337T>A	uc002jrd.1	-	6	3629	c.3449A>T	c.(3448-3450)cAa>cTa	p.Q1150L	QRICH2_uc010dgw.1_5'UTR	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1150							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GCCCCTGTCTTGGCTCTCCCT	0.567000														69			28		0	0	0.005443	0	0
SOX10	6663	broad.mit.edu	37	22	38374016	38374016	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr22:38374016C>T	uc003aun.1	-	2	833	c.555G>A	c.(553-555)caG>caA	p.Q185Q	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Silent_p.Q185Q	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	185						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCGCCTCGCCCTGGGCGGCCT	0.682000														35			15		0	0	0.004007	0	0
PSMC4	5704	broad.mit.edu	37	19	40486339	40486339	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr19:40486339T>C	uc002omq.3	+	8	1102	c.1065T>C	c.(1063-1065)tcT>tcC	p.S355S	PSMC4_uc002omr.3_Silent_p.S324S	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	355					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAACCTCTCTGAGGAGGTTG	0.517000														162			83		0	0	0.014410	0	0
SMG1	23049	broad.mit.edu	37	16	18844471	18844471	+	Silent	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr16:18844471G>A	uc002dfm.3	-	50	8946	c.8583C>T	c.(8581-8583)ttC>ttT	p.F2861F	SMG1_uc010bwb.3_Silent_p.F2721F|SMG1_uc010bwa.3_Silent_p.F1592F	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2861					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGATTTGCCGGAAATTCGAAT	0.338000														65			26		0	0	0.018920	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	Silent	SNP	C	T	T	rs58649169	by1000genomes	TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr7:142479940C>T	uc011ksq.2	+	1	155	c.72C>T	c.(70-72)atC>atT	p.I24I	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		ATGACAAGATCGTTGGGGGCT	0.557000														94			4		0	0	0.014758	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14424143	14424143	+	RNA	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr21:14424143G>A	uc002yiy.3	+	4		c.2958G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AACACCTGACGAGGCTGCACC	0.438000														15			8		0	0	0.004482	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	T	T	rs114234640	byFrequency	TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr6:32725567C>T	uc003obz.2	-	3	823	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552000														23			4		0	0	0.009096	0	0
GYS2	2998	broad.mit.edu	37	12	21757442	21757442	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:21757442G>T	uc001rfb.3	-	0	340	c.85C>A	c.(85-87)Ctg>Atg	p.L29M		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	29					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAAAGAGCAGTAACTCCTCC	0.493000														156			158		1.46278e-64	1.71177e-64	0.014410	1	0
PCDH20	64881	broad.mit.edu	37	13	61987658	61987658	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr13:61987658A>G	uc001vid.4	-	1	938	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	PCDH20_uc010thj.2_Missense_Mutation_p.F192L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	165	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACCTTCACAAACCTGAAGTAT	0.532000														152			14		0	0	0.003163	0	0
ZAN	7455	broad.mit.edu	37	7	100383746	100383746	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr7:100383746G>T	uc003uwj.3	+	37	7124	c.6959G>T	c.(6958-6960)aGc>aTc	p.S2320I	ZAN_uc003uwk.3_Missense_Mutation_p.S2320I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.S371I	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2321	VWFC 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACAGCAACAGCAATTGTGTC	0.632000														129			126		2.37897e-42	2.6978e-42	0.014410	1	0
FAM75D1	389763	broad.mit.edu	37	9	84608132	84608132	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr9:84608132G>A	uc004amn.3	+	3	2794	c.2747G>A	c.(2746-2748)tGg>tAg	p.W916*		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	916						integral to membrane		p.L915L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AGGATGCTGTGGGGCCTTCCC	0.463000														47			32		0	0	0.010818	0	0
SNTB1	6641	broad.mit.edu	37	8	121587444	121587444	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr8:121587444G>A	uc010mdg.3	-	3	1244	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	SNTB1_uc003ype.3_Nonsense_Mutation_p.Q340*	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	340	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GGTTTCCACTGTTTCTTGCTC	0.483000														134			54		0	0	0.014410	0	0
POSTN	10631	broad.mit.edu	37	13	38154716	38154716	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr13:38154716T>G	uc001uwo.4	-	10	1629	c.1511A>C	c.(1510-1512)aAa>aCa	p.K504T	POSTN_uc010tet.2_Missense_Mutation_p.K32T|POSTN_uc001uwp.4_Missense_Mutation_p.K504T|POSTN_uc001uwr.3_Missense_Mutation_p.K504T|POSTN_uc001uwq.3_Missense_Mutation_p.K504T|POSTN_uc010teu.1_Missense_Mutation_p.K504T|POSTN_uc010tev.1_Missense_Mutation_p.K504T|POSTN_uc010tew.1_Missense_Mutation_p.K504T|POSTN_uc010tex.1_Missense_Mutation_p.K419T	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	504	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.L503*(1)|p.K504K(1)|p.K504E(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTATCTTGTTTTAACTTTTC	0.438000														221			120		0	0	0.014410	0	0
RUFY3	22902	broad.mit.edu	37	4	71659564	71659564	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:71659564A>G	uc003hfr.3	+	12	1995	c.1400A>G	c.(1399-1401)gAc>gGc	p.D467G	RUFY3_uc011cay.2_Missense_Mutation_p.D403G	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	303					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TTCAAACAGGACTTTGGAGAC	0.527000														50			30		0	0	0.008361	0	0
PAOX	196743	broad.mit.edu	37	10	135193909	135193909	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr10:135193909C>T	uc001lmv.3	+	1	668	c.588C>T	c.(586-588)ggC>ggT	p.G196G	PAOX_uc001lmx.3_Silent_p.G196G|PAOX_uc001lmy.3_Silent_p.G196G|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Intron|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Intron|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	334					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GTGTGAGCGGCACCCACAGCA	0.622000														57			7		0	0	0.001984	0	0
GIGYF2	26058	broad.mit.edu	37	2	233681744	233681744	+	Splice_Site	SNP	T	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:233681744T>A	uc002vtj.4	+	22	2700	c.2433_splice	c.e22+2	p.Q811_splice	GIGYF2_uc002vtg.2_Splice_Site_p.Q784_splice|GIGYF2_uc002vti.4_Splice_Site_p.Q790_splice|GIGYF2_uc002vtk.4_Splice_Site_p.Q790_splice|GIGYF2_uc002vth.4_Splice_Site_p.Q784_splice|GIGYF2_uc010zmk.2_Splice_Site|GIGYF2_uc010zml.1_Splice_Site_p.Q621_splice|GIGYF2_uc002vtq.4_Splice_Site_p.Q123_splice	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	790	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGGAAACAGGTATGTATCTGG	0.468000														210			81		0	0	0.014410	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808956	48808956	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:48808956A>G	uc002rwp.2	+	1	1298	c.1184A>G	c.(1183-1185)gAg>gGg	p.E395G	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E395G|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.E395G|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.E395G|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E395G	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	395					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTGTGGAGGAGGAGCTGATG	0.433000														83			37		0	0	0.019004	0	0
DDR1	780	broad.mit.edu	37	6	30857025	30857025	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr6:30857025G>A	uc003nrv.3	+	2	277	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	DDR1_uc010jse.3_Missense_Mutation_p.V79M|DDR1_uc003nrq.3_Missense_Mutation_p.V79M|DDR1_uc003nrr.3_Missense_Mutation_p.V79M|DDR1_uc003nrs.3_Missense_Mutation_p.V79M|DDR1_uc003nrt.3_Missense_Mutation_p.V79M|DDR1_uc011dms.2_Missense_Mutation_p.V97M|DDR1_uc011dmt.2_Missense_Mutation_p.V105M|DDR1_uc003nru.3_Missense_Mutation_p.V79M|DDR1_uc011dmu.1_Missense_Mutation_p.V79M|DDR1_uc003nry.2_Missense_Mutation_p.V79M|DDR1_uc003nrx.2_Missense_Mutation_p.V79M|MIR4640_uc021yue.1_5'Flank|DDR1_uc003nrw.1_5'Flank	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	79	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGCAGGGTCGGTGTTTCCCAA	0.647000														286			119		0	0	0.014410	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904204	21904204	+	RNA	SNP	G	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:21904204G>T	uc002gza.2	+	0		c.143G>T								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ctgccaggacggtgttcgggt	0.677000														51			5		1.024e-07	1.08308e-07	0.014758	1	0
FBXO11	80204	broad.mit.edu	37	2	48050458	48050458	+	Silent	SNP	T	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:48050458T>G	uc002rwe.3	-	11	1513	c.1440A>C	c.(1438-1440)gcA>gcC	p.A480A	FBXO11_uc010fbl.3_Silent_p.A396A|FBXO11_uc002rwg.2_Silent_p.A480A|FBXO11_uc010fbk.3_5'UTR|FBXO11_uc021vhe.1_Silent_p.A280A	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	480					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTCAAAGCCTGCTATCCTAT	0.373000			"""Mis, F, D"""		DLBCL									50			27		0	0	0.005443	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887763	47887763	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr20:47887763T>C	uc002xui.3	-	2	833	c.586A>G	c.(586-588)Agc>Ggc	p.S196G		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	196							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATTTTGGAGCTACAAGCCTTC	0.448000														138			105		0	0	0.014410	0	0
SRCAP	10847	broad.mit.edu	37	16	30732089	30732089	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr16:30732089C>A	uc002dze.1	+	19	3428	c.3043C>A	c.(3043-3045)Cca>Aca	p.P1015T	SRCAP_uc021tgn.1_Missense_Mutation_p.P1015T|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P872T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1015	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)			GGTGAACAACCCACGGGCGCC	0.602000														148			83		1.32764e-51	1.53727e-51	0.014410	1	0
MYO5B	4645	broad.mit.edu	37	18	47500737	47500737	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr18:47500737C>T	uc002leb.2	-	9	1593	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	MYO5B_uc021ukb.1_Silent_p.G434G	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	435	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGTCCAGGACCCCGATGAAGG	0.582000														49			28		0	0	0.006320	0	0
ROS1	6098	broad.mit.edu	37	6	117622147	117622147	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr6:117622147T>G	uc003pxp.1	-	41	6922	c.6723A>C	c.(6721-6723)gaA>gaC	p.E2241D	ROS1_uc011ebi.1_Non-coding_Transcript|RN7SK_uc021zee.1_5'Flank	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2241					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTCAAAGCTTTCATTTATGA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									67			15		0	0	0.010818	0	0
GNAZ	2781	broad.mit.edu	37	22	23438484	23438484	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr22:23438484A>G	uc002zwu.1	+	1	1139	c.602A>G	c.(601-603)gAc>gGc	p.D201G	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	201						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.D201D(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AAGATGGTGGACGTGGGGGGG	0.567000														136			60		0	0	0.014410	0	0
HPX	3263	broad.mit.edu	37	11	6453151	6453151	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr11:6453151G>C	uc001mdg.2	-	7	993	c.932C>G	c.(931-933)gCc>gGc	p.A311G	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	311	Hemopexin-like 5.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CCAGGAAAAGGCAGCATCCAC	0.542000														159			83		0	0	0.014410	0	0
ATP6V1A	523	broad.mit.edu	37	3	113503595	113503595	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:113503595C>G	uc003eao.3	+	4	587	c.479C>G	c.(478-480)tCg>tGg	p.S160W	ATP6V1A_uc011bik.2_Missense_Mutation_p.S127W	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	160					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTGAGAACTCGCTTATCAAA	0.368000														94			54		0	0	0.014410	0	0
MGAM	8972	broad.mit.edu	37	7	141800677	141800677	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr7:141800677T>G	uc003vwy.3	+	44	5316	c.5262T>G	c.(5260-5262)gaT>gaG	p.D1754E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1754	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGGGATGATGGGCAAAGCA	0.502000														19			22		0	0	0.012319	0	0
SCN10A	6336	broad.mit.edu	37	3	38835251	38835251	+	Missense_Mutation	SNP	G	A	A	rs140609990		TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:38835251G>A	uc003ciq.3	-	0	251	c.251C>T	c.(250-252)cCg>cTg	p.P84L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	84					sensory perception	voltage-gated sodium channel complex		p.P84P(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTGTAGAACGGATCTAGATC	0.572000														187			83		0	0	0.014410	0	0
ASB15	142685	broad.mit.edu	37	7	123264837	123264837	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr7:123264837C>A	uc003vku.1	+	7	958	c.666C>A	c.(664-666)caC>caA	p.H222Q	ASB15_uc003vkv.1_Missense_Mutation_p.H222Q|ASB15_uc003vkw.1_Missense_Mutation_p.H222Q	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	222					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGTATGGTCACTGTGACGTGT	0.468000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			30		2.61193e-14	2.81679e-14	0.009535	1	0
BMP1	649	broad.mit.edu	37	8	22022973	22022973	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr8:22022973C>A	uc003xbg.3	+	0	321	c.55C>A	c.(55-57)Ccc>Acc	p.P19T	BMP1_uc011kzb.2_Non-coding_Transcript|BMP1_uc003xbf.3_5'UTR|BMP1_uc003xbb.3_Missense_Mutation_p.P19T|BMP1_uc003xbc.3_5'UTR|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_5'UTR|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	19					cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCTCCCGCGTCCCGGCCGGCC	0.736000														13			4		0.00198382	0.00207829	0.001984	1	0
RFX2	5990	broad.mit.edu	37	19	6013026	6013026	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr19:6013026C>T	uc002meb.3	-	7	1139	c.870G>A	c.(868-870)atG>atA	p.M290I	RFX2_uc002mec.3_Missense_Mutation_p.M265I	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCTGCTGCCGCATGGCCATGT	0.617000														143			73		0	0	0.014410	0	0
PCDH18	54510	broad.mit.edu	37	4	138450855	138450855	+	Silent	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:138450855G>A	uc003ihe.4	-	0	2775	c.2388C>T	c.(2386-2388)caC>caT	p.H796H	PCDH18_uc003ihf.4_Silent_p.H789H|PCDH18_uc011cgz.2_Silent_p.H7H|PCDH18_uc003ihg.4_Silent_p.H576H|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	796					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGTGACTGTTGTGACTCTGCC	0.498000														43			37		0	0	0.006999	0	0
RAF1	5894	broad.mit.edu	37	3	12633229	12633229	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:12633229T>A	uc003bxf.4	-	10	1586	c.1171A>T	c.(1171-1173)Agg>Tgg	p.R391W	RAF1_uc011aut.2_Missense_Mutation_p.R176W|RAF1_uc011auu.2_Missense_Mutation_p.R309W	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	391	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ACCTCATTCCTGAAGGCCTGG	0.507000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					55			24		0	0	0.005443	0	0
SLX4	84464	broad.mit.edu	37	16	3641173	3641173	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr16:3641173C>G	uc002cvp.2	-	11	3093	c.2466G>C	c.(2464-2466)atG>atC	p.M822I		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	822	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CATCTGCCCACATTGACCTCA	0.468000								Direct reversal of damage						167			64		0	0	0.014410	0	0
FGF21	26291	broad.mit.edu	37	19	49261265	49261265	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr19:49261265C>A	uc002pkn.1	+	3	990	c.418C>A	c.(418-420)Cac>Aac	p.H140N	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.H140N	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	140					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GTCCGAAGCCCACGGCCTCCC	0.632000														121			63		6.25564e-26	7.02164e-26	0.014410	1	0
MLX	6945	broad.mit.edu	37	17	40725220	40725220	+	Splice_Site	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:40725220C>G	uc002iag.3	+	8	2562	c.2497_splice	c.e8+1		MLX_uc002iaf.3_Splice_Site|MLX_uc002iah.3_Splice_Site|PSMC3IP_uc002iaj.3_Intron|PSMC3IP_uc010wgp.1_Intron|PSMC3IP_uc002iai.2_Intron|PSMC3IP_uc002iak.2_Intron|PSMC3IP_uc010wgn.1_Intron|PSMC3IP_uc010wgo.1_Intron	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	Homo sapiens MAX-like protein X (MLX), transcript variant 3, mRNA.						energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TTCAGATGGGCAGCACTGGGC	0.502000														88			8		0	0	0.004482	0	0
CD40	958	broad.mit.edu	37	20	44757638	44757638	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr20:44757638G>C	uc002xrg.1	+	8	870	c.793G>C	c.(793-795)Gat>Cat	p.D265H	CD40_uc002xrh.1_3'UTR|CD40_uc002xrj.1_Non-coding_Transcript|CD40_uc002xrk.1_Non-coding_Transcript	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	265					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of endothelial cell apoptosis|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CACCCAGGAGGATGGCAAAGA	0.582000									Immune Deficiency with Hyper-IgM					135			30		0	0	0.015359	0	0
PLCB2	5330	broad.mit.edu	37	15	40594160	40594160	+	Nonsense_Mutation	SNP	T	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:40594160T>A	uc001zld.3	-	6	881	c.580A>T	c.(580-582)Aaa>Taa	p.K194*	PLCB2_uc010bbo.3_Nonsense_Mutation_p.K194*|PLCB2_uc010ucm.2_Nonsense_Mutation_p.K194*|PLCB2_uc001zle.4_Nonsense_Mutation_p.K194*	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	194					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G193D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCACTCACTTTGCCTTTGGGG	0.582000														44			20		0	0	0.008871	0	0
abParts	0	broad.mit.edu	37	14	106791229	106791229	+	RNA	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr14:106791229C>T	uc021ser.1	-	619		c.17163G>A								Parts of antibodies, mostly variable regions.																		AATCCAGAGGCTGCACAGGAG	0.587000														256			53		0	0	0.014410	0	0
DZANK1	55184	broad.mit.edu	37	20	18433281	18433281	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr20:18433281C>G	uc010zsa.2	-	5	787	c.578G>C	c.(577-579)aGa>aCa	p.R193T	DZANK1_uc002wqr.4_Non-coding_Transcript|DZANK1_uc002wqs.4_Missense_Mutation_p.D24H|DZANK1_uc002wqq.4_Missense_Mutation_p.R174T|DZANK1_uc002wqu.1_Intron|DZANK1_uc010gct.1_Intron	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	Homo sapiens double zinc ribbon and ankyrin repeat domains 1 (DZANK1), mRNA.	0						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GGTGGGTGGTCTAGAACCTGA	0.423000														22			6		0	0	0.001984	0	0
ELTD1	64123	broad.mit.edu	37	1	79402059	79402059	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:79402059T>C	uc001diq.4	-	6	954	c.798A>G	c.(796-798)aaA>aaG	p.K266K		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	266					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GATGAATATGTTTCATGTTAT	0.259000														123			23		0	0	0.012319	0	0
MYH7	4625	broad.mit.edu	37	14	23886422	23886422	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr14:23886422C>T	uc001wjx.3	-	31	4565	c.4459G>A	c.(4459-4461)Gcc>Acc	p.A1487T		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1487					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCATAGGCGTTCTTGAGT	0.597000														158			66		0	0	0.014410	0	0
LRIG2	9860	broad.mit.edu	37	1	113616063	113616063	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:113616063A>T	uc001edf.1	+	0	233	c.35A>T	c.(34-36)cAg>cTg	p.Q12L	LRIG2_uc009wgn.1_5'UTR|BC037540_uc001ede.1_5'Flank	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	12						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CCGGAGGAGCAGTTGCTGGGG	0.642000											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		190			106		0	0	0.014410	0	0
ZFP41	286128	broad.mit.edu	37	8	144332048	144332048	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr8:144332048C>T	uc003yxw.3	+	1	393	c.35C>T	c.(34-36)cCg>cTg	p.P12L	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Missense_Mutation_p.P12L	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	12					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AAGAAGACGCCGACCCCAAGG	0.592000														29			12		0	0	0.010729	0	0
SLC22A10	387775	broad.mit.edu	37	11	63129877	63129877	+	RNA	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr11:63129877C>T	uc010rmo.1	+	8		c.999C>T						Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.							integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCTCAATGTCTGCTCATCAA	0.438000														9			5		0	0	0.014758	0	0
TBCD	6904	broad.mit.edu	37	17	80888515	80888515	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:80888515G>C	uc002kfy.1	+	32	3239	c.3109G>C	c.(3109-3111)Gag>Cag	p.E1037Q	TBCD_uc002kfz.3_Missense_Mutation_p.E1037Q|TBCD_uc002kgd.3_Missense_Mutation_p.E29Q	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	1037					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCTTCTGAATGAGAGGTGAGT	0.597000														68			25		0	0	0.018920	0	0
GLDN	342035	broad.mit.edu	37	15	51693835	51693835	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:51693835G>A	uc002aba.3	+	8	1242	c.1073G>A	c.(1072-1074)gGc>gAc	p.G358D	GLDN_uc002abb.3_Missense_Mutation_p.G234D	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	358	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CTTCTGAATGGCAGTTACACG	0.483000											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		95			62		0	0	0.014410	0	0
MXRA5	25878	broad.mit.edu	37	X	3238719	3238719	+	Silent	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chrX:3238719A>G	uc004crg.4	-	4	5164	c.5007T>C	c.(5005-5007)agT>agC	p.S1669S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1669						extracellular region		p.S1668S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAATTGTTGTACTTGATAATC	0.438000														64			197		0	0	0.014410	0	0
RAET1L	154064	broad.mit.edu	37	6	150342042	150342042	+	Splice_Site	SNP	T	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr6:150342042T>A	uc011eei.2	-	3	692	c.631_splice	c.e3+1	p.A211_splice		NM_130900	NP_570970	Q5VY80	RET1L_HUMAN	Homo sapiens retinoic acid early transcript 1L (RAET1L), mRNA.	211					antigen processing and presentation|immune response	MHC class I protein complex|anchored to membrane				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		TCCTGTTACCTCCTGCACTTG	0.468000														119			62		0	0	0.014410	0	0
KIAA0907	22889	broad.mit.edu	37	1	155899153	155899153	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:155899153C>G	uc001fmi.1	-	3	422	c.398G>C	c.(397-399)aGt>aCt	p.S133T	KIAA0907_uc001fmj.1_Missense_Mutation_p.S133T|KIAA0907_uc009wrl.1_Non-coding_Transcript|KIAA0907_uc001fml.1_Missense_Mutation_p.S133T|KIAA0907_uc001fmm.3_Missense_Mutation_p.S133T|KIAA0907_uc001fmo.3_Missense_Mutation_p.S133T	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	133										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TGCAGCCCCACTAAGTCGGCT	0.408000														73			45		0	0	0.014410	0	0
TSFM	10102	broad.mit.edu	37	12	58177005	58177005	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:58177005C>T	uc001sqi.3	+	1	227	c.170C>T	c.(169-171)aCa>aTa	p.T57I	TSFM_uc021qzq.1_Missense_Mutation_p.T57I|TSFM_uc001sqh.3_Missense_Mutation_p.T57I|TSFM_uc010ssf.2_Missense_Mutation_p.T57I|TSFM_uc010sse.2_5'UTR	NM_005726	NP_005717	P43897	EFTS_HUMAN	Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	57					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CGGCGGAAAACAGGCTACTCC	0.582000											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		187			76		0	0	0.014410	0	0
HDHD2	84064	broad.mit.edu	37	18	44662721	44662721	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr18:44662721T>C	uc002lcs.3	-	1	223	c.90A>G	c.(88-90)gaA>gaG	p.E30E	HDHD2_uc002lct.3_5'UTR	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.	30							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TTTTAAGAGCTTCCTGTGCGC	0.463000														117			66		0	0	0.014410	0	0
PTPRE	5791	broad.mit.edu	37	10	129859261	129859261	+	Silent	SNP	C	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr10:129859261C>A	uc009yat.3	+	8	1020	c.603C>A	c.(601-603)atC>atA	p.I201I	PTPRE_uc001lkb.3_Silent_p.I190I|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Silent_p.I190I|PTPRE_uc001lkd.3_Silent_p.I132I|PTPRE_uc010quq.1_Silent_p.I91I	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	190	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.E200K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CAGACTACATCAATGCTTCCT	0.483000														60			35		3.90053e-15	4.2481e-15	0.012213	1	0
RAB34	83871	broad.mit.edu	37	17	27045260	27045260	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:27045260A>C	uc010was.1	-	0	27	c.26T>G	c.(25-27)tTg>tGg	p.L9W	RAB34_uc002hce.2_5'Flank|RAB34_uc002hcg.2_5'Flank|RAB34_uc010wat.1_Missense_Mutation_p.L9W|RAB34_uc002hch.2_5'UTR|RAB34_uc010wau.1_5'UTR|RAB34_uc010wav.1_Missense_Mutation_p.L9W|RPL23A_uc002hci.3_5'Flank|RPL23A_uc021ttu.1_5'Flank|SNORD42B_uc002hcj.1_5'Flank	NM_001144943	NP_114140	Q9BZG1	RAB34_HUMAN	Homo sapiens RAB34, member RAS oncogene family (RAB34), transcript variant 8, mRNA.	0					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TTCCCTCCTCAACTCCAGGCC	0.662000														17			6		0	0	0.001168	0	0
CALML4	91860	broad.mit.edu	37	15	68497600	68497600	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:68497600T>G	uc002arb.3	-	0	849	c.115A>C	c.(115-117)Agc>Cgc	p.S39R	CALML4_uc002arc.3_Missense_Mutation_p.S39R|CALML4_uc002ard.3_Non-coding_Transcript|CALML4_uc002are.3_Non-coding_Transcript|CALML4_uc010bhz.3_Non-coding_Transcript	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN	Homo sapiens calmodulin-like 4 (CALML4), transcript variant 1, mRNA.	39							calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						GGGCCTCGGCTGCTACCCGTG	0.612000														55			25		0	0	0.017118	0	0
ZZEF1	23140	broad.mit.edu	37	17	3953114	3953114	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:3953114C>T	uc002fxe.3	-	36	5967	c.5903G>A	c.(5902-5904)gGg>gAg	p.G1968E	ZZEF1_uc002fxh.3_Missense_Mutation_p.G282E|ZZEF1_uc002fxi.3_Missense_Mutation_p.G203E|ZZEF1_uc002fxj.1_Missense_Mutation_p.G581E	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1968							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCTCGAGTCCCCATCTGGCAA	0.498000														106			31		0	0	0.014410	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	A	A	rs150520281	by1000genomes	TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259000														32			4		0	0	0.009096	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	C	C	rs79096325		TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr17:60342186T>C	uc010woz.2	-	13		c.1943A>G								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000														27			3		0	0	0.001168	0	0
USF1	7391	broad.mit.edu	37	1	161011569	161011569	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:161011569T>C	uc001fxi.3	-	5	539	c.344A>G	c.(343-345)cAc>cGc	p.H115R	F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Missense_Mutation_p.H56R	NM_007122	NP_996888	P22415	USF1_HUMAN	Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA.	115					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTAAGTATAGTGCGTCTCAGC	0.572000											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		102			10		0	0	0.008291	0	0
MYO9A	4649	broad.mit.edu	37	15	72192125	72192125	+	Silent	SNP	T	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:72192125T>G	uc002atl.4	-	23	3846	c.3373A>C	c.(3373-3375)Aga>Cga	p.R1125R	MYO9A_uc010biq.3_Silent_p.R745R|MYO9A_uc002atn.1_Silent_p.R1106R|MYO9A_uc002atk.3_5'Flank|MYO9A_uc002atm.1_5'Flank	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1125	IQ 4.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCTTTCCATCTTGCTTGTATG	0.438000														69			42		0	0	0.007835	0	0
NSUN5P1	155400	broad.mit.edu	37	7	75045841	75045841	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr7:75045841A>G	uc003udh.1	+	3	608	c.565A>G	c.(565-567)Aga>Gga	p.R189G						Homo sapiens NOP2/Sun domain family, member 5 pseudogene 1 (NSUN5P1), non-coding RNA.											large_intestine(1)|lung(1)	2						GAGACAGCAAAGAGCCGCAGC	0.572000														49			44		0	0	0.014410	0	0
ABCE1	6059	broad.mit.edu	37	4	146041306	146041306	+	Splice_Site	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:146041306G>A	uc003ijx.3	+	11	1584	c.1144_splice	c.e11+1	p.G382_splice	ABCE1_uc003ijy.3_Splice_Site_p.G382_splice|ABCE1_uc010iot.3_Splice_Site	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	382	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GGGGAAAATGGTAAGTTTTCT	0.313000														52			31		0	0	0.009535	0	0
CTPS2	56474	broad.mit.edu	37	X	16685795	16685795	+	Silent	SNP	A	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chrX:16685795A>C	uc004cxk.3	-	11	1986	c.1242T>G	c.(1240-1242)ctT>ctG	p.L414L	CTPS2_uc004cxl.3_Silent_p.L414L|CTPS2_uc004cxm.3_Silent_p.L414L	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	414	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CTTTCAAGTTAAGGCAGTTTC	0.323000														24			49		0	0	0.014410	0	0
GIPR	2696	broad.mit.edu	37	19	46184876	46184876	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr19:46184876C>G	uc002pcu.1	+	12	1266	c.1167C>G	c.(1165-1167)agC>agG	p.S389R	GIPR_uc002pct.1_Missense_Mutation_p.S389R|GIPR_uc010xxp.1_Missense_Mutation_p.S353R|GIPR_uc010xxq.1_Non-coding_Transcript	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	389					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TCCTGGTCAGCGTCCTCTACT	0.677000														55			27		0	0	0.004656	0	0
VWC2L	402117	broad.mit.edu	37	2	215440518	215440518	+	Nonsense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:215440518G>T	uc002vet.2	+	3	773	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	VWC2L_uc010zjl.1_3'UTR	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	215						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTCGAAACGTGAATGCCAAGG	0.458000														178			78		6.11987e-43	7.01235e-43	0.014410	1	0
CDKL2	8999	broad.mit.edu	37	4	76532405	76532405	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:76532405T>C	uc011cbp.2	-	3	1029	c.504A>G	c.(502-504)agA>agG	p.R168R	CDKL2_uc003hiq.3_Silent_p.R168R|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	168	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GTTCTGGAGCTCTGTACCATC	0.453000														72			40		0	0	0.007835	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	C	C	rs77768218		TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:96521777T>C	uc002suz.1	-	30	2790	c.1313A>G	c.(1312-1314)cAt>cGt	p.H438R						SubName: Full=Uncharacterized protein;									p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383000														37			3		0	0	0.014758	0	0
CABIN1	23523	broad.mit.edu	37	22	24447425	24447425	+	Silent	SNP	T	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr22:24447425T>A	uc002zzi.1	+	7	922	c.795T>A	c.(793-795)atT>atA	p.I265I	CABIN1_uc021wnc.1_Intron|CABIN1_uc002zzj.1_Intron|CABIN1_uc002zzl.2_Silent_p.I265I|CABIN1_uc010guk.1_Silent_p.I220I|CABIN1_uc002zzk.2_Silent_p.I220I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	265					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCAGCCCATTCCTTTCTTCA	0.577000														29			21		0	0	0.012319	0	0
UPK3A	7380	broad.mit.edu	37	22	45683306	45683306	+	Silent	SNP	A	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr22:45683306A>C	uc003bfy.3	+	2	489	c.462A>C	c.(460-462)gcA>gcC	p.A154A	UPK3A_uc010gzy.3_Intron	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	154			A -> P (in dbSNP:rs1057353).		epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane		p.A154A(2)		kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCTGTAACGCACCCCTGTCGG	0.602000														8			4		0	0	0.001984	0	0
PREP	5550	broad.mit.edu	37	6	105825364	105825364	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr6:105825364C>G	uc003prc.3	-	2	384	c.151G>C	c.(151-153)Gtg>Ctg	p.V51L		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	51					proteolysis		serine-type endopeptidase activity	p.V51L(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AGAAATGGCACAGTAATCTTA	0.353000														106			54		0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100692247	100692247	+	Silent	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr7:100692247G>A	uc003uxp.1	+	4	12710	c.12657G>A	c.(12655-12657)acG>acA	p.T4219T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4219	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGACATTCACGGAACAGGTAA	0.507000														78			41		0	0	0.008740	0	0
DEPDC5	9681	broad.mit.edu	37	22	32193641	32193641	+	Nonsense_Mutation	SNP	A	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr22:32193641A>T	uc011alu.2	+	12	1025	c.823A>T	c.(823-825)Aaa>Taa	p.K275*	DEPDC5_uc011als.2_Nonsense_Mutation_p.K275*|DEPDC5_uc003als.3_Nonsense_Mutation_p.K275*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.K275*|DEPDC5_uc003alr.2_Nonsense_Mutation_p.K275*|DEPDC5_uc011alt.2_Nonsense_Mutation_p.K247*	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	275					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGTAACCATTAAAAAACTCTT	0.438000														26			23		0	0	0.004656	0	0
KDM2B	84678	broad.mit.edu	37	12	121880611	121880611	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:121880611C>T	uc001uat.3	-	18	2737	c.2633G>A	c.(2632-2634)cGc>cAc	p.R878H	KDM2B_uc010szy.2_Missense_Mutation_p.R318H|KDM2B_uc001uaq.3_Missense_Mutation_p.R318H|KDM2B_uc001uar.3_Missense_Mutation_p.R469H|KDM2B_uc001uas.3_Missense_Mutation_p.R809H|KDM2B_uc021rfd.1_Missense_Mutation_p.R809H|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.R878H|KDM2B_uc001uao.3_Missense_Mutation_p.R126H|KDM2B_uc010szx.2_Missense_Mutation_p.R126H|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	878					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CAGCGCCATGCGGTCCTCGGC	0.731000														30			3		0	0	0.004672	0	0
AMY2B	280	broad.mit.edu	37	1	104122036	104122036	+	Missense_Mutation	SNP	G	A	A	rs143243690		TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:104122036G>A	uc010ouo.2	+	21	3154	c.1450G>A	c.(1450-1452)Gtt>Att	p.V484I	AMY2B_uc001duq.3_Missense_Mutation_p.V484I|AMY2B_uc001dur.3_Missense_Mutation_p.V484I|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	484					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TAAAATCTACGTTTCTGACGA	0.323000														759			170		0	0	0.014410	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581896	84581896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:84581896C>T	uc002bjz.4	+	15	1977	c.1753C>T	c.(1753-1755)Cag>Tag	p.Q585*	ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.Q585*	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	585	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.V584V(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCGGGTGTGCAGGTCCGTGA	0.582000														116			47		0	0	0.014410	0	0
VPS13C	54832	broad.mit.edu	37	15	62221845	62221845	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:62221845C>G	uc002agz.3	-	50	6232	c.6141G>C	c.(6139-6141)aaG>aaC	p.K2047N	VPS13C_uc002aha.3_Missense_Mutation_p.K2004N|VPS13C_uc002ahb.2_Missense_Mutation_p.K2047N|VPS13C_uc002ahc.2_Missense_Mutation_p.K2004N	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2047					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATACATACAGCTTGTCAAGAA	0.368000														43			25		0	0	0.005443	0	0
TIGD2	166815	broad.mit.edu	37	4	90035227	90035227	+	Nonsense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr4:90035227G>T	uc003hsk.3	+	0	1260	c.1102G>T	c.(1102-1104)Gaa>Taa	p.E368*	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	Homo sapiens tigger transposable element derived 2 (TIGD2), mRNA.	368	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TGCAATTTATGAAGTGTCAAG	0.363000														66			24		1.77063e-15	1.94769e-15	0.005443	1	0
MANBA	4126	broad.mit.edu	37	4	103585962	103585962	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr4:103585962A>C	uc003hwg.3	-	10	1465	c.1365T>G	c.(1363-1365)aaT>aaG	p.N455K	MANBA_uc011ces.2_Missense_Mutation_p.N398K	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	455					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CATTTTCATTATTGCCACTCC	0.338000														196			4		0	0	0.009096	0	0
POLR2A	5430	broad.mit.edu	37	17	7402446	7402446	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:7402446G>A	uc002ghf.4	+	8	1810	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	POLR2A_uc002ghe.3_Missense_Mutation_p.R475H	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	475					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding	p.R475H(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CATCGGGTCCGCATTCTCCCA	0.562000														477			7		0	0	0.001984	0	0
TOP2B	7155	broad.mit.edu	37	3	25646332	25646332	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr3:25646332C>A	uc003cdj.2	-	32	4436	c.4393G>T	c.(4393-4395)Gat>Tat	p.D1465Y	TOP2B_uc011awm.1_Missense_Mutation_p.D322Y	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	1470					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	p.D1465Y(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GAAGCAGAATCTTCTTCATTA	0.313000														16			6		8.12818e-05	9.07516e-05	0.001984	1	0
PYROXD2	84795	broad.mit.edu	37	10	100167696	100167696	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr10:100167696A>G	uc001kpc.3	-	2	292	c.206T>C	c.(205-207)aTc>aCc	p.I69T	PYROXD2_uc001kpb.3_Non-coding_Transcript|PYROXD2_uc010qpe.2_Missense_Mutation_p.I69T	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	69							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TGCACCCCCGATCACATGGCG	0.627000														22			11		0	0	0.013537	0	0
IMMT	10989	broad.mit.edu	37	2	86371415	86371415	+	Silent	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr2:86371415T>G	uc002sqz.4	-	14	2641	c.2253A>C	c.(2251-2253)ggA>ggC	p.G751G	IMMT_uc002sqy.4_Silent_p.G492G|IMMT_uc010yte.2_Silent_p.G704G|IMMT_uc002srb.4_Silent_p.G740G|IMMT_uc002sra.4_Silent_p.G750G|IMMT_uc010ytd.2_Silent_p.G739G	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	751						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGAGTGGTTCCTATTCCTA	0.478000														65			53		0	0	0.014410	0	0
CCDC63	160762	broad.mit.edu	37	12	111321841	111321841	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr12:111321841G>C	uc001trv.1	+	7	1056	c.861G>C	c.(859-861)aaG>aaC	p.K287N	CCDC63_uc010sye.1_Missense_Mutation_p.K247N|CCDC63_uc001trw.1_Missense_Mutation_p.K202N	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	287										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAGCTCTCAAGGCAAAGAAGC	0.502000														225			238		0	0	0.014410	0	0
RFX2	5990	broad.mit.edu	37	19	6013026	6013026	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr19:6013026C>T	uc002meb.3	-	7	1139	c.870G>A	c.(868-870)atG>atA	p.M290I	RFX2_uc002mec.3_Missense_Mutation_p.M265I	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCTGCTGCCGCATGGCCATGT	0.617000														193			133		0	0	0.014410	0	0
CERS2	29956	broad.mit.edu	37	1	150940937	150940937	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:150940937C>T	uc001evy.3	-	2	651	c.225G>A	c.(223-225)cgG>cgA	p.R75R	CERS2_uc001evz.3_Silent_p.R75R|CERS2_uc009wmh.3_5'UTR	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA.	75						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GTGCCCGCAGCCGAGTTTTCT	0.557000														106			16		0	0	0.004990	0	0
COL17A1	1308	broad.mit.edu	37	10	105793764	105793764	+	Silent	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr10:105793764A>G	uc001kxr.3	-	51	4264	c.4095T>C	c.(4093-4095)gcT>gcC	p.A1365A	COL17A1_uc001kxq.3_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1365	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGCAAAGTCAGCTCCCAATA	0.587000														125			44		0	0	0.014410	0	0
QRICH2	84074	broad.mit.edu	37	17	74283337	74283337	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:74283337T>A	uc002jrd.1	-	6	3629	c.3449A>T	c.(3448-3450)cAa>cTa	p.Q1150L	QRICH2_uc010dgw.1_5'UTR	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1150							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GCCCCTGTCTTGGCTCTCCCT	0.567000														108			49		0	0	0.014410	0	0
SOX10	6663	broad.mit.edu	37	22	38374016	38374016	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr22:38374016C>T	uc003aun.1	-	2	833	c.555G>A	c.(553-555)caG>caA	p.Q185Q	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Silent_p.Q185Q	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	185						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCGCCTCGCCCTGGGCGGCCT	0.682000														34			23		0	0	0.021523	0	0
PSMC4	5704	broad.mit.edu	37	19	40486339	40486339	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr19:40486339T>C	uc002omq.3	+	8	1102	c.1065T>C	c.(1063-1065)tcT>tcC	p.S355S	PSMC4_uc002omr.3_Silent_p.S324S	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	355					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAACCTCTCTGAGGAGGTTG	0.517000														266			166		0	0	0.014410	0	0
TCF7	6932	broad.mit.edu	37	5	133451702	133451702	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr5:133451702A>C	uc003kyt.3	+	2	615	c.419A>C	c.(418-420)cAc>cCc	p.H140P	TCF7_uc003kyv.3_Missense_Mutation_p.H25P|TCF7_uc003kyw.3_Missense_Mutation_p.H25P|TCF7_uc003kyu.2_Missense_Mutation_p.H25P|TCF7_uc003kyy.3_Missense_Mutation_p.H25P|TCF7_uc003kyx.3_5'UTR|TCF7_uc003kyz.3_Missense_Mutation_p.H25P|TCF7_uc003kza.3_Missense_Mutation_p.H25P	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	140					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription regulatory region DNA binding	p.H140P(6)|p.H25P(2)		kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGGGCAGCACCCCCAGCCG	0.652000														26			5		0	0	0.012213	0	0
SMG1	23049	broad.mit.edu	37	16	18844471	18844471	+	Silent	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr16:18844471G>A	uc002dfm.3	-	50	8946	c.8583C>T	c.(8581-8583)ttC>ttT	p.F2861F	SMG1_uc010bwb.3_Silent_p.F2721F|SMG1_uc010bwa.3_Silent_p.F1592F	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2861					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGATTTGCCGGAAATTCGAAT	0.338000														14			8		0	0	0.006214	0	0
HDHD2	84064	broad.mit.edu	37	18	44662721	44662721	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr18:44662721T>C	uc002lcs.3	-	1	223	c.90A>G	c.(88-90)gaA>gaG	p.E30E	HDHD2_uc002lct.3_5'UTR	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.	30							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TTTTAAGAGCTTCCTGTGCGC	0.463000														97			46		0	0	0.014410	0	0
PROM1	8842	broad.mit.edu	37	4	15989318	15989318	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr4:15989318T>G	uc003goo.2	-	18	2310	c.2098A>C	c.(2098-2100)Aag>Cag	p.K700Q	PROM1_uc003gor.2_Missense_Mutation_p.K700Q|PROM1_uc003gos.2_Missense_Mutation_p.K691Q|PROM1_uc003got.2_Missense_Mutation_p.K700Q|PROM1_uc003gou.2_Missense_Mutation_p.K691Q|PROM1_uc003gop.2_Missense_Mutation_p.K691Q|PROM1_uc003goq.3_Missense_Mutation_p.K691Q	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	700					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TGAAGTATCTTGACGCTTTGG	0.383000														379			6		0	0	0.001168	0	0
TMCC2	9911	broad.mit.edu	37	1	205238546	205238546	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:205238546G>T	uc021pia.1	+	2	1871	c.1216G>T	c.(1216-1218)Gtc>Ttc	p.V406F	TMCC2_uc010prf.2_Missense_Mutation_p.V328F|TMCC2_uc001hca.3_Missense_Mutation_p.V181F|TMCC2_uc001hcb.2_Missense_Mutation_p.V166F|TMCC2_uc001hcc.2_Missense_Mutation_p.V27F|TMCC2_uc001hcd.3_Missense_Mutation_p.V173F	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	406						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGTGGAGGGCGTCAAGGGCAG	0.682000														52			39		1.32136e-16	1.53491e-16	0.008740	1	0
KCTD11	147040	broad.mit.edu	37	17	7256830	7256830	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:7256830T>G	uc002gge.4	+	0	1623	c.569T>G	c.(568-570)gTg>gGg	p.V190G	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA.	190					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E189G(1)		kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CGGCGGGAGGTGGTGGGCACC	0.692000														70			6		0	0	0.012319	0	0
GYS2	2998	broad.mit.edu	37	12	21757442	21757442	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr12:21757442G>T	uc001rfb.3	-	0	340	c.85C>A	c.(85-87)Ctg>Atg	p.L29M		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	29					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAAAGAGCAGTAACTCCTCC	0.493000														10			12		9.05144e-12	1.02051e-11	0.016723	1	0
PCDH20	64881	broad.mit.edu	37	13	61987658	61987658	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr13:61987658A>G	uc001vid.4	-	1	938	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	PCDH20_uc010thj.2_Missense_Mutation_p.F192L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	165	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACCTTCACAAACCTGAAGTAT	0.532000														210			14		0	0	0.004990	0	0
CDKL2	8999	broad.mit.edu	37	4	76532405	76532405	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr4:76532405T>C	uc011cbp.2	-	3	1029	c.504A>G	c.(502-504)agA>agG	p.R168R	CDKL2_uc003hiq.3_Silent_p.R168R|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	168	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GTTCTGGAGCTCTGTACCATC	0.453000														67			34		0	0	0.015359	0	0
ZAN	7455	broad.mit.edu	37	7	100383746	100383746	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr7:100383746G>T	uc003uwj.3	+	37	7124	c.6959G>T	c.(6958-6960)aGc>aTc	p.S2320I	ZAN_uc003uwk.3_Missense_Mutation_p.S2320I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.S371I	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2321	VWFC 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACAGCAACAGCAATTGTGTC	0.632000														210			239		1.72261e-137	2.08527e-137	0.014410	1	0
FAM75D1	389763	broad.mit.edu	37	9	84608132	84608132	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr9:84608132G>A	uc004amn.3	+	3	2794	c.2747G>A	c.(2746-2748)tGg>tAg	p.W916*		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	916						integral to membrane		p.L915L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AGGATGCTGTGGGGCCTTCCC	0.463000														36			14		0	0	0.003163	0	0
GTF2H4	2968	broad.mit.edu	37	6	30876923	30876923	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr6:30876923A>C	uc003nsa.1	+	1	317	c.110A>C	c.(109-111)cAc>cCc	p.H37P	GTF2H4_uc010jsf.2_Missense_Mutation_p.H37P|GTF2H4_uc011dmv.1_Intron	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	37					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TTGTATGGGCACCCTGCCACA	0.517000								Nucleotide excision repair (NER)						28			5		0	0	0.007413	0	0
RAB34	83871	broad.mit.edu	37	17	27045260	27045260	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:27045260A>C	uc010was.1	-	0	27	c.26T>G	c.(25-27)tTg>tGg	p.L9W	RAB34_uc002hce.2_5'Flank|RAB34_uc002hcg.2_5'Flank|RAB34_uc010wat.1_Missense_Mutation_p.L9W|RAB34_uc002hch.2_5'UTR|RAB34_uc010wau.1_5'UTR|RAB34_uc010wav.1_Missense_Mutation_p.L9W|RPL23A_uc002hci.3_5'Flank|RPL23A_uc021ttu.1_5'Flank|SNORD42B_uc002hcj.1_5'Flank	NM_001144943	NP_114140	Q9BZG1	RAB34_HUMAN	Homo sapiens RAB34, member RAS oncogene family (RAB34), transcript variant 8, mRNA.	0					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TTCCCTCCTCAACTCCAGGCC	0.662000														23			9		0	0	0.008291	0	0
SNTB1	6641	broad.mit.edu	37	8	121587444	121587444	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr8:121587444G>A	uc010mdg.3	-	3	1244	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	SNTB1_uc003ype.3_Nonsense_Mutation_p.Q340*	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	340	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GGTTTCCACTGTTTCTTGCTC	0.483000														40			13		0	0	0.020292	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586819	42586819	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr8:42586819C>T	uc003xpi.1	+	4	497	c.369C>T	c.(367-369)ggC>ggT	p.G123G		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	123					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTGCTGACGGCCGCTTCGAAG	0.502000														96			4		0	0	0.009096	0	0
POSTN	10631	broad.mit.edu	37	13	38154716	38154716	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr13:38154716T>G	uc001uwo.4	-	10	1629	c.1511A>C	c.(1510-1512)aAa>aCa	p.K504T	POSTN_uc010tet.2_Missense_Mutation_p.K32T|POSTN_uc001uwp.4_Missense_Mutation_p.K504T|POSTN_uc001uwr.3_Missense_Mutation_p.K504T|POSTN_uc001uwq.3_Missense_Mutation_p.K504T|POSTN_uc010teu.1_Missense_Mutation_p.K504T|POSTN_uc010tev.1_Missense_Mutation_p.K504T|POSTN_uc010tew.1_Missense_Mutation_p.K504T|POSTN_uc010tex.1_Missense_Mutation_p.K419T	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	504	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.L503*(1)|p.K504K(1)|p.K504E(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTATCTTGTTTTAACTTTTC	0.438000														47			22		0	0	0.018920	0	0
RUFY3	22902	broad.mit.edu	37	4	71659564	71659564	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr4:71659564A>G	uc003hfr.3	+	12	1995	c.1400A>G	c.(1399-1401)gAc>gGc	p.D467G	RUFY3_uc011cay.2_Missense_Mutation_p.D403G	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	303					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TTCAAACAGGACTTTGGAGAC	0.527000														46			23		0	0	0.006320	0	0
PAOX	196743	broad.mit.edu	37	10	135193909	135193909	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr10:135193909C>T	uc001lmv.3	+	1	668	c.588C>T	c.(586-588)ggC>ggT	p.G196G	PAOX_uc001lmx.3_Silent_p.G196G|PAOX_uc001lmy.3_Silent_p.G196G|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Intron|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Intron|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	334					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GTGTGAGCGGCACCCACAGCA	0.622000														92			10		0	0	0.006214	0	0
GIGYF2	26058	broad.mit.edu	37	2	233681744	233681744	+	Splice_Site	SNP	T	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr2:233681744T>A	uc002vtj.4	+	22	2700	c.2433_splice	c.e22+2	p.Q811_splice	GIGYF2_uc002vtg.2_Splice_Site_p.Q784_splice|GIGYF2_uc002vti.4_Splice_Site_p.Q790_splice|GIGYF2_uc002vtk.4_Splice_Site_p.Q790_splice|GIGYF2_uc002vth.4_Splice_Site_p.Q784_splice|GIGYF2_uc010zmk.2_Splice_Site|GIGYF2_uc010zml.1_Splice_Site_p.Q621_splice|GIGYF2_uc002vtq.4_Splice_Site_p.Q123_splice	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	790	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGGAAACAGGTATGTATCTGG	0.468000														62			19		0	0	0.006122	0	0
CABIN1	23523	broad.mit.edu	37	22	24447425	24447425	+	Silent	SNP	T	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr22:24447425T>A	uc002zzi.1	+	7	922	c.795T>A	c.(793-795)atT>atA	p.I265I	CABIN1_uc021wnc.1_Intron|CABIN1_uc002zzj.1_Intron|CABIN1_uc002zzl.2_Silent_p.I265I|CABIN1_uc010guk.1_Silent_p.I220I|CABIN1_uc002zzk.2_Silent_p.I220I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	265					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCAGCCCATTCCTTTCTTCA	0.577000														62			37		0	0	0.006230	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808956	48808956	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr2:48808956A>G	uc002rwp.2	+	1	1298	c.1184A>G	c.(1183-1185)gAg>gGg	p.E395G	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E395G|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.E395G|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.E395G|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E395G	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	395					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTGTGGAGGAGGAGCTGATG	0.433000														21			11		0	0	0.020292	0	0
DDR1	780	broad.mit.edu	37	6	30857025	30857025	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr6:30857025G>A	uc003nrv.3	+	2	277	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	DDR1_uc010jse.3_Missense_Mutation_p.V79M|DDR1_uc003nrq.3_Missense_Mutation_p.V79M|DDR1_uc003nrr.3_Missense_Mutation_p.V79M|DDR1_uc003nrs.3_Missense_Mutation_p.V79M|DDR1_uc003nrt.3_Missense_Mutation_p.V79M|DDR1_uc011dms.2_Missense_Mutation_p.V97M|DDR1_uc011dmt.2_Missense_Mutation_p.V105M|DDR1_uc003nru.3_Missense_Mutation_p.V79M|DDR1_uc011dmu.1_Missense_Mutation_p.V79M|DDR1_uc003nry.2_Missense_Mutation_p.V79M|DDR1_uc003nrx.2_Missense_Mutation_p.V79M|MIR4640_uc021yue.1_5'Flank|DDR1_uc003nrw.1_5'Flank	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	79	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGCAGGGTCGGTGTTTCCCAA	0.647000														362			184		0	0	0.014410	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240900	39240900	+	Missense_Mutation	SNP	T	G	G	rs61746948		TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:39240900T>G	uc010wfn.2	+	0	442	c.442T>G	c.(442-444)Ttg>Gtg	p.L148V		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TCCCCGCCCCTTGTGCTGTGC	0.627000														24			3		0	0	0.009096	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887763	47887763	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr20:47887763T>C	uc002xui.3	-	2	833	c.586A>G	c.(586-588)Agc>Ggc	p.S196G		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	196							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATTTTGGAGCTACAAGCCTTC	0.448000														122			121		0	0	0.014410	0	0
SRCAP	10847	broad.mit.edu	37	16	30732089	30732089	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr16:30732089C>A	uc002dze.1	+	19	3428	c.3043C>A	c.(3043-3045)Cca>Aca	p.P1015T	SRCAP_uc021tgn.1_Missense_Mutation_p.P1015T|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P872T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1015	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)			GGTGAACAACCCACGGGCGCC	0.602000														193			102		8.43681e-56	1.00024e-55	0.014410	1	0
abParts	0	broad.mit.edu	37	14	106791229	106791229	+	RNA	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr14:106791229C>T	uc021ser.1	-	619		c.17163G>A								Parts of antibodies, mostly variable regions.																		AATCCAGAGGCTGCACAGGAG	0.587000														345			72		0	0	0.014410	0	0
MYO5B	4645	broad.mit.edu	37	18	47500737	47500737	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr18:47500737C>T	uc002leb.2	-	9	1593	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	MYO5B_uc021ukb.1_Silent_p.G434G	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	435	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGTCCAGGACCCCGATGAAGG	0.582000														95			39		0	0	0.006230	0	0
ROS1	6098	broad.mit.edu	37	6	117622147	117622147	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr6:117622147T>G	uc003pxp.1	-	41	6922	c.6723A>C	c.(6721-6723)gaA>gaC	p.E2241D	ROS1_uc011ebi.1_Non-coding_Transcript|RN7SK_uc021zee.1_5'Flank	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2241					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTCAAAGCTTTCATTTATGA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									46			5		0	0	0.004007	0	0
GNAZ	2781	broad.mit.edu	37	22	23438484	23438484	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr22:23438484A>G	uc002zwu.1	+	1	1139	c.602A>G	c.(601-603)gAc>gGc	p.D201G	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	201						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.D201D(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AAGATGGTGGACGTGGGGGGG	0.567000														275			91		0	0	0.014410	0	0
HPX	3263	broad.mit.edu	37	11	6453151	6453151	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr11:6453151G>C	uc001mdg.2	-	7	993	c.932C>G	c.(931-933)gCc>gGc	p.A311G	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	311	Hemopexin-like 5.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CCAGGAAAAGGCAGCATCCAC	0.542000														206			101		0	0	0.014410	0	0
SCN10A	6336	broad.mit.edu	37	3	38835251	38835251	+	Missense_Mutation	SNP	G	A	A	rs140609990		TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr3:38835251G>A	uc003ciq.3	-	0	251	c.251C>T	c.(250-252)cCg>cTg	p.P84L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	84					sensory perception	voltage-gated sodium channel complex		p.P84P(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTGTAGAACGGATCTAGATC	0.572000														81			43		0	0	0.010771	0	0
MGAM	8972	broad.mit.edu	37	7	141800677	141800677	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr7:141800677T>G	uc003vwy.3	+	44	5316	c.5262T>G	c.(5260-5262)gaT>gaG	p.D1754E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1754	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGGGATGATGGGCAAAGCA	0.502000														14			13		0	0	0.003163	0	0
ATP6V1A	523	broad.mit.edu	37	3	113503595	113503595	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr3:113503595C>G	uc003eao.3	+	4	587	c.479C>G	c.(478-480)tCg>tGg	p.S160W	ATP6V1A_uc011bik.2_Missense_Mutation_p.S127W	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	160					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTGAGAACTCGCTTATCAAA	0.368000														67			43		0	0	0.010771	0	0
ASB15	142685	broad.mit.edu	37	7	123264837	123264837	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr7:123264837C>A	uc003vku.1	+	7	958	c.666C>A	c.(664-666)caC>caA	p.H222Q	ASB15_uc003vkv.1_Missense_Mutation_p.H222Q|ASB15_uc003vkw.1_Missense_Mutation_p.H222Q	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	222					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGTATGGTCACTGTGACGTGT	0.468000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			19		0.000132079	0.000146049	0.008871	1	0
STXBP5L	9515	broad.mit.edu	37	3	120978006	120978006	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr3:120978006C>G	uc003eec.4	+	17	2089	c.1949C>G	c.(1948-1950)gCa>gGa	p.A650G	STXBP5L_uc011bji.2_Missense_Mutation_p.A650G	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	650					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTAAGCTCAGCATATGGAATG	0.338000														12			2		0	0	0.004672	0	0
BMP1	649	broad.mit.edu	37	8	22022973	22022973	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr8:22022973C>A	uc003xbg.3	+	0	321	c.55C>A	c.(55-57)Ccc>Acc	p.P19T	BMP1_uc011kzb.2_Non-coding_Transcript|BMP1_uc003xbf.3_5'UTR|BMP1_uc003xbb.3_Missense_Mutation_p.P19T|BMP1_uc003xbc.3_5'UTR|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_5'UTR|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	19					cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCTCCCGCGTCCCGGCCGGCC	0.736000														18			4		0.000157383	0.000172372	0.003080	1	0
UBC	7316	broad.mit.edu	37	12	125397269	125397269	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr12:125397269G>A	uc001ugs.4	-	1	1507	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	UBC_uc001ugr.3_Intron|UBC_uc001ugt.3_Missense_Mutation_p.A350V|UBC_uc001ugu.1_Missense_Mutation_p.A350V|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.A350V|UBC_uc001ugw.3_Missense_Mutation_p.A198V	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	350	Ubiquitin-like 5.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522000														725			7		0	0	0.001984	0	0
PCDH18	54510	broad.mit.edu	37	4	138450855	138450855	+	Silent	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr4:138450855G>A	uc003ihe.4	-	0	2775	c.2388C>T	c.(2386-2388)caC>caT	p.H796H	PCDH18_uc003ihf.4_Silent_p.H789H|PCDH18_uc011cgz.2_Silent_p.H7H|PCDH18_uc003ihg.4_Silent_p.H576H|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	796					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGTGACTGTTGTGACTCTGCC	0.498000														10			6		0	0	0.003080	0	0
ZNF214	7761	broad.mit.edu	37	11	7021930	7021930	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr11:7021930C>T	uc009yfh.1	-	2	1283	c.984G>A	c.(982-984)gaG>gaA	p.E328E	ZNF214_uc001mfa.2_Silent_p.E328E|ZNF214_uc010ray.1_Silent_p.E328E	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TATAGAATTTCTCTTCTGTGT	0.383000														20			3		0	0	0.004672	0	0
RAF1	5894	broad.mit.edu	37	3	12633229	12633229	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr3:12633229T>A	uc003bxf.4	-	10	1586	c.1171A>T	c.(1171-1173)Agg>Tgg	p.R391W	RAF1_uc011aut.2_Missense_Mutation_p.R176W|RAF1_uc011auu.2_Missense_Mutation_p.R309W	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	391	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ACCTCATTCCTGAAGGCCTGG	0.507000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					79			47		0	0	0.014410	0	0
SLX4	84464	broad.mit.edu	37	16	3641173	3641173	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr16:3641173C>G	uc002cvp.2	-	11	3093	c.2466G>C	c.(2464-2466)atG>atC	p.M822I		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	822	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CATCTGCCCACATTGACCTCA	0.468000								Direct reversal of damage						288			135		0	0	0.014410	0	0
FGF21	26291	broad.mit.edu	37	19	49261265	49261265	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr19:49261265C>A	uc002pkn.1	+	3	990	c.418C>A	c.(418-420)Cac>Aac	p.H140N	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.H140N	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	140					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GTCCGAAGCCCACGGCCTCCC	0.632000														215			140		5.13159e-70	6.14721e-70	0.014410	1	0
MLX	6945	broad.mit.edu	37	17	40725220	40725220	+	Splice_Site	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:40725220C>G	uc002iag.3	+	8	2562	c.2497_splice	c.e8+1		MLX_uc002iaf.3_Splice_Site|MLX_uc002iah.3_Splice_Site|PSMC3IP_uc002iaj.3_Intron|PSMC3IP_uc010wgp.1_Intron|PSMC3IP_uc002iai.2_Intron|PSMC3IP_uc002iak.2_Intron|PSMC3IP_uc010wgn.1_Intron|PSMC3IP_uc010wgo.1_Intron	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	Homo sapiens MAX-like protein X (MLX), transcript variant 3, mRNA.						energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TTCAGATGGGCAGCACTGGGC	0.502000														86			6		0	0	0.003080	0	0
CD40	958	broad.mit.edu	37	20	44757638	44757638	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr20:44757638G>C	uc002xrg.1	+	8	870	c.793G>C	c.(793-795)Gat>Cat	p.D265H	CD40_uc002xrh.1_3'UTR|CD40_uc002xrj.1_Non-coding_Transcript|CD40_uc002xrk.1_Non-coding_Transcript	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	265					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of endothelial cell apoptosis|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CACCCAGGAGGATGGCAAAGA	0.582000									Immune Deficiency with Hyper-IgM					208			58		0	0	0.014410	0	0
PLCB2	5330	broad.mit.edu	37	15	40594160	40594160	+	Nonsense_Mutation	SNP	T	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:40594160T>A	uc001zld.3	-	6	881	c.580A>T	c.(580-582)Aaa>Taa	p.K194*	PLCB2_uc010bbo.3_Nonsense_Mutation_p.K194*|PLCB2_uc010ucm.2_Nonsense_Mutation_p.K194*|PLCB2_uc001zle.4_Nonsense_Mutation_p.K194*	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	194					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G193D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCACTCACTTTGCCTTTGGGG	0.582000														82			39		0	0	0.011902	0	0
CNGB1	1258	broad.mit.edu	37	16	57984372	57984372	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr16:57984372G>A	uc002emt.2	-	12	1012	c.947C>T	c.(946-948)gCc>gTc	p.A316V	CNGB1_uc010cdh.2_Missense_Mutation_p.A310V	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	316					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						ATCCTGGTGGGCATCCTCCCA	0.552000														224			5		0	0	0.014758	0	0
ELTD1	64123	broad.mit.edu	37	1	79402059	79402059	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:79402059T>C	uc001diq.4	-	6	954	c.798A>G	c.(796-798)aaA>aaG	p.K266K		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	266					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GATGAATATGTTTCATGTTAT	0.259000														54			3		0	0	0.004672	0	0
MYH7	4625	broad.mit.edu	37	14	23886422	23886422	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr14:23886422C>T	uc001wjx.3	-	31	4565	c.4459G>A	c.(4459-4461)Gcc>Acc	p.A1487T		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1487					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCATAGGCGTTCTTGAGT	0.597000														296			135		0	0	0.014410	0	0
LRIG2	9860	broad.mit.edu	37	1	113616063	113616063	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:113616063A>T	uc001edf.1	+	0	233	c.35A>T	c.(34-36)cAg>cTg	p.Q12L	LRIG2_uc009wgn.1_5'UTR|BC037540_uc001ede.1_5'Flank	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	12						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CCGGAGGAGCAGTTGCTGGGG	0.642000											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		300			167		0	0	0.014410	0	0
ZFP41	286128	broad.mit.edu	37	8	144332048	144332048	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr8:144332048C>T	uc003yxw.3	+	1	393	c.35C>T	c.(34-36)cCg>cTg	p.P12L	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Missense_Mutation_p.P12L	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	12					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AAGAAGACGCCGACCCCAAGG	0.592000														25			11		0	0	0.010729	0	0
CALML4	91860	broad.mit.edu	37	15	68497600	68497600	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:68497600T>G	uc002arb.3	-	0	849	c.115A>C	c.(115-117)Agc>Cgc	p.S39R	CALML4_uc002arc.3_Missense_Mutation_p.S39R|CALML4_uc002ard.3_Non-coding_Transcript|CALML4_uc002are.3_Non-coding_Transcript|CALML4_uc010bhz.3_Non-coding_Transcript	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN	Homo sapiens calmodulin-like 4 (CALML4), transcript variant 1, mRNA.	39							calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						GGGCCTCGGCTGCTACCCGTG	0.612000														109			37		0	0	0.014410	0	0
ZZEF1	23140	broad.mit.edu	37	17	3953114	3953114	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:3953114C>T	uc002fxe.3	-	36	5967	c.5903G>A	c.(5902-5904)gGg>gAg	p.G1968E	ZZEF1_uc002fxh.3_Missense_Mutation_p.G282E|ZZEF1_uc002fxi.3_Missense_Mutation_p.G203E|ZZEF1_uc002fxj.1_Missense_Mutation_p.G581E	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1968							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCTCGAGTCCCCATCTGGCAA	0.498000														165			27		0	0	0.014410	0	0
TBCD	6904	broad.mit.edu	37	17	80888515	80888515	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:80888515G>C	uc002kfy.1	+	32	3239	c.3109G>C	c.(3109-3111)Gag>Cag	p.E1037Q	TBCD_uc002kfz.3_Missense_Mutation_p.E1037Q|TBCD_uc002kgd.3_Missense_Mutation_p.E29Q	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	1037					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCTTCTGAATGAGAGGTGAGT	0.597000														96			31		0	0	0.015359	0	0
GLDN	342035	broad.mit.edu	37	15	51693835	51693835	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:51693835G>A	uc002aba.3	+	8	1242	c.1073G>A	c.(1072-1074)gGc>gAc	p.G358D	GLDN_uc002abb.3_Missense_Mutation_p.G234D	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	358	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CTTCTGAATGGCAGTTACACG	0.483000											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		150			79		0	0	0.014410	0	0
MXRA5	25878	broad.mit.edu	37	X	3238719	3238719	+	Silent	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chrX:3238719A>G	uc004crg.4	-	4	5164	c.5007T>C	c.(5005-5007)agT>agC	p.S1669S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1669						extracellular region		p.S1668S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAATTGTTGTACTTGATAATC	0.438000														56			138		0	0	0.014410	0	0
RAET1L	154064	broad.mit.edu	37	6	150342042	150342042	+	Splice_Site	SNP	T	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr6:150342042T>A	uc011eei.2	-	3	692	c.631_splice	c.e3+1	p.A211_splice		NM_130900	NP_570970	Q5VY80	RET1L_HUMAN	Homo sapiens retinoic acid early transcript 1L (RAET1L), mRNA.	211					antigen processing and presentation|immune response	MHC class I protein complex|anchored to membrane				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		TCCTGTTACCTCCTGCACTTG	0.468000														206			80		0	0	0.014410	0	0
KIAA0907	22889	broad.mit.edu	37	1	155899153	155899153	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:155899153C>G	uc001fmi.1	-	3	422	c.398G>C	c.(397-399)aGt>aCt	p.S133T	KIAA0907_uc001fmj.1_Missense_Mutation_p.S133T|KIAA0907_uc009wrl.1_Non-coding_Transcript|KIAA0907_uc001fml.1_Missense_Mutation_p.S133T|KIAA0907_uc001fmm.3_Missense_Mutation_p.S133T|KIAA0907_uc001fmo.3_Missense_Mutation_p.S133T	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	133										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TGCAGCCCCACTAAGTCGGCT	0.408000														111			50		0	0	0.014410	0	0
TSFM	10102	broad.mit.edu	37	12	58177005	58177005	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr12:58177005C>T	uc001sqi.3	+	1	227	c.170C>T	c.(169-171)aCa>aTa	p.T57I	TSFM_uc021qzq.1_Missense_Mutation_p.T57I|TSFM_uc001sqh.3_Missense_Mutation_p.T57I|TSFM_uc010ssf.2_Missense_Mutation_p.T57I|TSFM_uc010sse.2_5'UTR	NM_005726	NP_005717	P43897	EFTS_HUMAN	Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	57					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CGGCGGAAAACAGGCTACTCC	0.582000											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		329			99		0	0	0.014410	0	0
PTPRE	5791	broad.mit.edu	37	10	129859261	129859261	+	Silent	SNP	C	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr10:129859261C>A	uc009yat.3	+	8	1020	c.603C>A	c.(601-603)atC>atA	p.I201I	PTPRE_uc001lkb.3_Silent_p.I190I|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Silent_p.I190I|PTPRE_uc001lkd.3_Silent_p.I132I|PTPRE_uc010quq.1_Silent_p.I91I	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	190	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.E200K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CAGACTACATCAATGCTTCCT	0.483000														109			58		6.09941e-20	7.15747e-20	0.014410	1	0
FBXO11	80204	broad.mit.edu	37	2	48050458	48050458	+	Silent	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr2:48050458T>G	uc002rwe.3	-	11	1513	c.1440A>C	c.(1438-1440)gcA>gcC	p.A480A	FBXO11_uc010fbl.3_Silent_p.A396A|FBXO11_uc002rwg.2_Silent_p.A480A|FBXO11_uc010fbk.3_5'UTR|FBXO11_uc021vhe.1_Silent_p.A280A	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	480					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTCAAAGCCTGCTATCCTAT	0.373000			"""Mis, F, D"""		DLBCL									27			29		0	0	0.009535	0	0
USF1	7391	broad.mit.edu	37	1	161011569	161011569	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:161011569T>C	uc001fxi.3	-	5	539	c.344A>G	c.(343-345)cAc>cGc	p.H115R	F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Missense_Mutation_p.H56R	NM_007122	NP_996888	P22415	USF1_HUMAN	Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA.	115					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTAAGTATAGTGCGTCTCAGC	0.572000											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		140			19		0	0	0.012319	0	0
MYO9A	4649	broad.mit.edu	37	15	72192125	72192125	+	Silent	SNP	T	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:72192125T>G	uc002atl.4	-	23	3846	c.3373A>C	c.(3373-3375)Aga>Cga	p.R1125R	MYO9A_uc010biq.3_Silent_p.R745R|MYO9A_uc002atn.1_Silent_p.R1106R|MYO9A_uc002atk.3_5'Flank|MYO9A_uc002atm.1_5'Flank	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1125	IQ 4.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCTTTCCATCTTGCTTGTATG	0.438000														42			19		0	0	0.010504	0	0
NSUN5P1	155400	broad.mit.edu	37	7	75045841	75045841	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr7:75045841A>G	uc003udh.1	+	3	608	c.565A>G	c.(565-567)Aga>Gga	p.R189G						Homo sapiens NOP2/Sun domain family, member 5 pseudogene 1 (NSUN5P1), non-coding RNA.											large_intestine(1)|lung(1)	2						GAGACAGCAAAGAGCCGCAGC	0.572000														86			63		0	0	0.014410	0	0
ABCE1	6059	broad.mit.edu	37	4	146041306	146041306	+	Splice_Site	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr4:146041306G>A	uc003ijx.3	+	11	1584	c.1144_splice	c.e11+1	p.G382_splice	ABCE1_uc003ijy.3_Splice_Site_p.G382_splice|ABCE1_uc010iot.3_Splice_Site	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	382	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GGGGAAAATGGTAAGTTTTCT	0.313000														11			7		0	0	0.001984	0	0
CTPS2	56474	broad.mit.edu	37	X	16685795	16685795	+	Silent	SNP	A	C	C			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chrX:16685795A>C	uc004cxk.3	-	11	1986	c.1242T>G	c.(1240-1242)ctT>ctG	p.L414L	CTPS2_uc004cxl.3_Silent_p.L414L|CTPS2_uc004cxm.3_Silent_p.L414L	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	414	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CTTTCAAGTTAAGGCAGTTTC	0.323000														34			103		0	0	0.014410	0	0
GIPR	2696	broad.mit.edu	37	19	46184876	46184876	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr19:46184876C>G	uc002pcu.1	+	12	1266	c.1167C>G	c.(1165-1167)agC>agG	p.S389R	GIPR_uc002pct.1_Missense_Mutation_p.S389R|GIPR_uc010xxp.1_Missense_Mutation_p.S353R|GIPR_uc010xxq.1_Non-coding_Transcript	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	389					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TCCTGGTCAGCGTCCTCTACT	0.677000														65			29		0	0	0.012213	0	0
VWC2L	402117	broad.mit.edu	37	2	215440518	215440518	+	Nonsense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr2:215440518G>T	uc002vet.2	+	3	773	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	VWC2L_uc010zjl.1_3'UTR	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	215						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTCGAAACGTGAATGCCAAGG	0.458000														57			15		6.49762e-13	7.39828e-13	0.006122	1	0
LEPRE1	64175	broad.mit.edu	37	1	43228097	43228097	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:43228097C>T	uc001chx.4	-	1	628	c.515G>A	c.(514-516)gGc>gAc	p.G172D	LEPRE1_uc001chw.2_Missense_Mutation_p.G172D|LEPRE1_uc001chv.2_Missense_Mutation_p.G172D|LEPRE1_uc001chy.4_Missense_Mutation_p.G172D	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	172					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.V171V(1)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCAGGATTGCCCACGAAGAA	0.468000														255			5		0	0	0.014758	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005213	101005213	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr14:101005213C>T	uc010txa.2	-	5	1021	c.875G>A	c.(874-876)gGc>gAc	p.G292D	BEGAIN_uc001yhp.3_Missense_Mutation_p.G228D|BEGAIN_uc001yhq.3_Missense_Mutation_p.G292D	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	292						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GGGCAGTGAGCCTGCGTAGCT	0.701000														25			3		0	0	0.009096	0	0
PREP	5550	broad.mit.edu	37	6	105825364	105825364	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr6:105825364C>G	uc003prc.3	-	2	384	c.151G>C	c.(151-153)Gtg>Ctg	p.V51L		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	51					proteolysis		serine-type endopeptidase activity	p.V51L(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AGAAATGGCACAGTAATCTTA	0.353000														62			39		0	0	0.005524	0	0
MUC17	140453	broad.mit.edu	37	7	100692247	100692247	+	Silent	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr7:100692247G>A	uc003uxp.1	+	4	12710	c.12657G>A	c.(12655-12657)acG>acA	p.T4219T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4219	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGACATTCACGGAACAGGTAA	0.507000														117			46		0	0	0.014410	0	0
DEPDC5	9681	broad.mit.edu	37	22	32193641	32193641	+	Nonsense_Mutation	SNP	A	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr22:32193641A>T	uc011alu.2	+	12	1025	c.823A>T	c.(823-825)Aaa>Taa	p.K275*	DEPDC5_uc011als.2_Nonsense_Mutation_p.K275*|DEPDC5_uc003als.3_Nonsense_Mutation_p.K275*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.K275*|DEPDC5_uc003alr.2_Nonsense_Mutation_p.K275*|DEPDC5_uc011alt.2_Nonsense_Mutation_p.K247*	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	275					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGTAACCATTAAAAAACTCTT	0.438000														30			20		0	0	0.021523	0	0
NEO1	4756	broad.mit.edu	37	15	73590762	73590762	+	Silent	SNP	G	A	A			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:73590762G>A	uc002avm.4	+	26	4167	c.3975G>A	c.(3973-3975)caG>caA	p.Q1325Q	NEO1_uc010ukx.2_Silent_p.Q1314Q|NEO1_uc010uky.2_Silent_p.Q1272Q|NEO1_uc002avn.4_Silent_p.Q1318Q|NEO1_uc010ukz.2_Silent_p.Q738Q	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	1325					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTGATCACCAGGACCCTGAAG	0.537000														177			4		0	0	0.009096	0	0
AMY2B	280	broad.mit.edu	37	1	104122036	104122036	+	Missense_Mutation	SNP	G	A	A	rs143243690		TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:104122036G>A	uc010ouo.2	+	21	3154	c.1450G>A	c.(1450-1452)Gtt>Att	p.V484I	AMY2B_uc001duq.3_Missense_Mutation_p.V484I|AMY2B_uc001dur.3_Missense_Mutation_p.V484I|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	484					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TAAAATCTACGTTTCTGACGA	0.323000														124			24		0	0	0.021523	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581896	84581896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:84581896C>T	uc002bjz.4	+	15	1977	c.1753C>T	c.(1753-1755)Cag>Tag	p.Q585*	ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.Q585*	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	585	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.V584V(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCGGGTGTGCAGGTCCGTGA	0.582000														170			82		0	0	0.014410	0	0
VPS13C	54832	broad.mit.edu	37	15	62221845	62221845	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:62221845C>G	uc002agz.3	-	50	6232	c.6141G>C	c.(6139-6141)aaG>aaC	p.K2047N	VPS13C_uc002aha.3_Missense_Mutation_p.K2004N|VPS13C_uc002ahb.2_Missense_Mutation_p.K2047N|VPS13C_uc002ahc.2_Missense_Mutation_p.K2004N	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2047					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATACATACAGCTTGTCAAGAA	0.368000														35			13		0	0	0.013537	0	0
TIGD2	166815	broad.mit.edu	37	4	90035227	90035227	+	Nonsense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr4:90035227G>T	uc003hsk.3	+	0	1260	c.1102G>T	c.(1102-1104)Gaa>Taa	p.E368*	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	Homo sapiens tigger transposable element derived 2 (TIGD2), mRNA.	368	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TGCAATTTATGAAGTGTCAAG	0.363000														18			8		0.000274275	0.000297563	0.004482	1	0
TOP2B	7155	broad.mit.edu	37	3	25646332	25646332	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr3:25646332C>A	uc003cdj.2	-	32	4436	c.4393G>T	c.(4393-4395)Gat>Tat	p.D1465Y	TOP2B_uc011awm.1_Missense_Mutation_p.D322Y	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	1470					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	p.D1465Y(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GAAGCAGAATCTTCTTCATTA	0.313000														81			44		1.61004e-24	1.8316e-24	0.014410	1	0
PYROXD2	84795	broad.mit.edu	37	10	100167696	100167696	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr10:100167696A>G	uc001kpc.3	-	2	292	c.206T>C	c.(205-207)aTc>aCc	p.I69T	PYROXD2_uc001kpb.3_Non-coding_Transcript|PYROXD2_uc010qpe.2_Missense_Mutation_p.I69T	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	69							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TGCACCCCCGATCACATGGCG	0.627000														12			4		0	0	0.009096	0	0
IMMT	10989	broad.mit.edu	37	2	86371415	86371415	+	Silent	SNP	T	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr2:86371415T>G	uc002sqz.4	-	14	2641	c.2253A>C	c.(2251-2253)ggA>ggC	p.G751G	IMMT_uc002sqy.4_Silent_p.G492G|IMMT_uc010yte.2_Silent_p.G704G|IMMT_uc002srb.4_Silent_p.G740G|IMMT_uc002sra.4_Silent_p.G750G|IMMT_uc010ytd.2_Silent_p.G739G	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	751						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGAGTGGTTCCTATTCCTA	0.478000														53			38		0	0	0.019004	0	0
CCDC63	160762	broad.mit.edu	37	12	111321841	111321841	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr12:111321841G>C	uc001trv.1	+	7	1056	c.861G>C	c.(859-861)aaG>aaC	p.K287N	CCDC63_uc010sye.1_Missense_Mutation_p.K247N|CCDC63_uc001trw.1_Missense_Mutation_p.K202N	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	287										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAGCTCTCAAGGCAAAGAAGC	0.502000														134			118		0	0	0.014410	0	0
NBPF12	149013	broad.mit.edu	37	1	146466030	146466030	+	Missense_Mutation	SNP	C	G	G	rs116184198	by1000genomes	TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:146466030C>G	uc010ozl.2	+	12	1647	c.1355C>G	c.(1354-1356)aCc>aGc	p.T452S		NM_017940	NP_060410			Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.											ovary(2)	2						CAGCACATCACCTTTGCCCTT	0.433000														191			7		0	0	0.003080	0	0
COL17A1	1308	broad.mit.edu	37	10	105793764	105793764	+	Silent	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr10:105793764A>G	uc001kxr.3	-	51	4264	c.4095T>C	c.(4093-4095)gcT>gcC	p.A1365A	COL17A1_uc001kxq.3_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1365	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGCAAAGTCAGCTCCCAATA	0.587000														86			33		0	0	0.015359	0	0
QRICH2	84074	broad.mit.edu	37	17	74283337	74283337	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:74283337T>A	uc002jrd.1	-	6	3629	c.3449A>T	c.(3448-3450)cAa>cTa	p.Q1150L	QRICH2_uc010dgw.1_5'UTR	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1150							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GCCCCTGTCTTGGCTCTCCCT	0.567000														69			28		0	0	0.005443	0	0
SOX10	6663	broad.mit.edu	37	22	38374016	38374016	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr22:38374016C>T	uc003aun.1	-	2	833	c.555G>A	c.(553-555)caG>caA	p.Q185Q	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Silent_p.Q185Q	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	185						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCGCCTCGCCCTGGGCGGCCT	0.682000														35			15		0	0	0.004007	0	0
PSMC4	5704	broad.mit.edu	37	19	40486339	40486339	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr19:40486339T>C	uc002omq.3	+	8	1102	c.1065T>C	c.(1063-1065)tcT>tcC	p.S355S	PSMC4_uc002omr.3_Silent_p.S324S	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	355					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAACCTCTCTGAGGAGGTTG	0.517000														162			83		0	0	0.014410	0	0
SMG1	23049	broad.mit.edu	37	16	18844471	18844471	+	Silent	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr16:18844471G>A	uc002dfm.3	-	50	8946	c.8583C>T	c.(8581-8583)ttC>ttT	p.F2861F	SMG1_uc010bwb.3_Silent_p.F2721F|SMG1_uc010bwa.3_Silent_p.F1592F	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2861					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGATTTGCCGGAAATTCGAAT	0.338000														65			26		0	0	0.018920	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	Silent	SNP	C	T	T	rs58649169	by1000genomes	TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr7:142479940C>T	uc011ksq.2	+	1	155	c.72C>T	c.(70-72)atC>atT	p.I24I	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		ATGACAAGATCGTTGGGGGCT	0.557000														94			4		0	0	0.014758	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95515029	95515029	+	RNA	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr2:95515029G>A	uc010fhp.3	-	3		c.422C>T						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						AAATTATAGCGAATAAAAGTG	0.323000														191			12		0	0	0.010504	0	0
GYS2	2998	broad.mit.edu	37	12	21757442	21757442	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr12:21757442G>T	uc001rfb.3	-	0	340	c.85C>A	c.(85-87)Ctg>Atg	p.L29M		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	29					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAAAGAGCAGTAACTCCTCC	0.493000														156			158		1.46278e-64	1.74409e-64	0.014410	1	0
PCDH20	64881	broad.mit.edu	37	13	61987658	61987658	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr13:61987658A>G	uc001vid.4	-	1	938	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	PCDH20_uc010thj.2_Missense_Mutation_p.F192L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	165	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACCTTCACAAACCTGAAGTAT	0.532000														152			14		0	0	0.003163	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342234	60342234	+	RNA	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:60342234C>T	uc010woz.2	-	13		c.1895G>A								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						GTCTGGTGTGCTCCATCTCTG	0.498000														80			5		0	0	0.004482	0	0
ZAN	7455	broad.mit.edu	37	7	100383746	100383746	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr7:100383746G>T	uc003uwj.3	+	37	7124	c.6959G>T	c.(6958-6960)aGc>aTc	p.S2320I	ZAN_uc003uwk.3_Missense_Mutation_p.S2320I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.S371I	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2321	VWFC 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACAGCAACAGCAATTGTGTC	0.632000														129			126		2.37897e-42	2.75694e-42	0.014410	1	0
FAM75D1	389763	broad.mit.edu	37	9	84608132	84608132	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr9:84608132G>A	uc004amn.3	+	3	2794	c.2747G>A	c.(2746-2748)tGg>tAg	p.W916*		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	916						integral to membrane		p.L915L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AGGATGCTGTGGGGCCTTCCC	0.463000														47			32		0	0	0.010818	0	0
RAB34	83871	broad.mit.edu	37	17	27045260	27045260	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:27045260A>C	uc010was.1	-	0	27	c.26T>G	c.(25-27)tTg>tGg	p.L9W	RAB34_uc002hce.2_5'Flank|RAB34_uc002hcg.2_5'Flank|RAB34_uc010wat.1_Missense_Mutation_p.L9W|RAB34_uc002hch.2_5'UTR|RAB34_uc010wau.1_5'UTR|RAB34_uc010wav.1_Missense_Mutation_p.L9W|RPL23A_uc002hci.3_5'Flank|RPL23A_uc021ttu.1_5'Flank|SNORD42B_uc002hcj.1_5'Flank	NM_001144943	NP_114140	Q9BZG1	RAB34_HUMAN	Homo sapiens RAB34, member RAS oncogene family (RAB34), transcript variant 8, mRNA.	0					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TTCCCTCCTCAACTCCAGGCC	0.662000														17			6		0	0	0.001168	0	0
SNTB1	6641	broad.mit.edu	37	8	121587444	121587444	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr8:121587444G>A	uc010mdg.3	-	3	1244	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	SNTB1_uc003ype.3_Nonsense_Mutation_p.Q340*	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	340	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GGTTTCCACTGTTTCTTGCTC	0.483000														134			54		0	0	0.014410	0	0
POSTN	10631	broad.mit.edu	37	13	38154716	38154716	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr13:38154716T>G	uc001uwo.4	-	10	1629	c.1511A>C	c.(1510-1512)aAa>aCa	p.K504T	POSTN_uc010tet.2_Missense_Mutation_p.K32T|POSTN_uc001uwp.4_Missense_Mutation_p.K504T|POSTN_uc001uwr.3_Missense_Mutation_p.K504T|POSTN_uc001uwq.3_Missense_Mutation_p.K504T|POSTN_uc010teu.1_Missense_Mutation_p.K504T|POSTN_uc010tev.1_Missense_Mutation_p.K504T|POSTN_uc010tew.1_Missense_Mutation_p.K504T|POSTN_uc010tex.1_Missense_Mutation_p.K419T	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	504	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.L503*(1)|p.K504K(1)|p.K504E(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTATCTTGTTTTAACTTTTC	0.438000														221			120		0	0	0.014410	0	0
RUFY3	22902	broad.mit.edu	37	4	71659564	71659564	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr4:71659564A>G	uc003hfr.3	+	12	1995	c.1400A>G	c.(1399-1401)gAc>gGc	p.D467G	RUFY3_uc011cay.2_Missense_Mutation_p.D403G	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	303					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TTCAAACAGGACTTTGGAGAC	0.527000														50			30		0	0	0.008361	0	0
PAOX	196743	broad.mit.edu	37	10	135193909	135193909	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr10:135193909C>T	uc001lmv.3	+	1	668	c.588C>T	c.(586-588)ggC>ggT	p.G196G	PAOX_uc001lmx.3_Silent_p.G196G|PAOX_uc001lmy.3_Silent_p.G196G|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Intron|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Intron|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	334					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GTGTGAGCGGCACCCACAGCA	0.622000														57			7		0	0	0.001984	0	0
GIGYF2	26058	broad.mit.edu	37	2	233681744	233681744	+	Splice_Site	SNP	T	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr2:233681744T>A	uc002vtj.4	+	22	2700	c.2433_splice	c.e22+2	p.Q811_splice	GIGYF2_uc002vtg.2_Splice_Site_p.Q784_splice|GIGYF2_uc002vti.4_Splice_Site_p.Q790_splice|GIGYF2_uc002vtk.4_Splice_Site_p.Q790_splice|GIGYF2_uc002vth.4_Splice_Site_p.Q784_splice|GIGYF2_uc010zmk.2_Splice_Site|GIGYF2_uc010zml.1_Splice_Site_p.Q621_splice|GIGYF2_uc002vtq.4_Splice_Site_p.Q123_splice	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	790	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGGAAACAGGTATGTATCTGG	0.468000														210			81		0	0	0.014410	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808956	48808956	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr2:48808956A>G	uc002rwp.2	+	1	1298	c.1184A>G	c.(1183-1185)gAg>gGg	p.E395G	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E395G|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.E395G|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.E395G|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E395G	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	395					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTGTGGAGGAGGAGCTGATG	0.433000														83			37		0	0	0.019004	0	0
DDR1	780	broad.mit.edu	37	6	30857025	30857025	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr6:30857025G>A	uc003nrv.3	+	2	277	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	DDR1_uc010jse.3_Missense_Mutation_p.V79M|DDR1_uc003nrq.3_Missense_Mutation_p.V79M|DDR1_uc003nrr.3_Missense_Mutation_p.V79M|DDR1_uc003nrs.3_Missense_Mutation_p.V79M|DDR1_uc003nrt.3_Missense_Mutation_p.V79M|DDR1_uc011dms.2_Missense_Mutation_p.V97M|DDR1_uc011dmt.2_Missense_Mutation_p.V105M|DDR1_uc003nru.3_Missense_Mutation_p.V79M|DDR1_uc011dmu.1_Missense_Mutation_p.V79M|DDR1_uc003nry.2_Missense_Mutation_p.V79M|DDR1_uc003nrx.2_Missense_Mutation_p.V79M|MIR4640_uc021yue.1_5'Flank|DDR1_uc003nrw.1_5'Flank	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	79	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGCAGGGTCGGTGTTTCCCAA	0.647000														286			119		0	0	0.014410	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887763	47887763	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr20:47887763T>C	uc002xui.3	-	2	833	c.586A>G	c.(586-588)Agc>Ggc	p.S196G		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	196							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATTTTGGAGCTACAAGCCTTC	0.448000														138			105		0	0	0.014410	0	0
SRCAP	10847	broad.mit.edu	37	16	30732089	30732089	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr16:30732089C>A	uc002dze.1	+	19	3428	c.3043C>A	c.(3043-3045)Cca>Aca	p.P1015T	SRCAP_uc021tgn.1_Missense_Mutation_p.P1015T|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P872T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1015	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)			GGTGAACAACCCACGGGCGCC	0.602000														148			83		1.32764e-51	1.56788e-51	0.014410	1	0
MYO5B	4645	broad.mit.edu	37	18	47500737	47500737	+	Silent	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr18:47500737C>T	uc002leb.2	-	9	1593	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	MYO5B_uc021ukb.1_Silent_p.G434G	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	435	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGTCCAGGACCCCGATGAAGG	0.582000														49			28		0	0	0.006320	0	0
ROS1	6098	broad.mit.edu	37	6	117622147	117622147	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr6:117622147T>G	uc003pxp.1	-	41	6922	c.6723A>C	c.(6721-6723)gaA>gaC	p.E2241D	ROS1_uc011ebi.1_Non-coding_Transcript|RN7SK_uc021zee.1_5'Flank	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2241					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTCAAAGCTTTCATTTATGA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									67			15		0	0	0.010818	0	0
GNAZ	2781	broad.mit.edu	37	22	23438484	23438484	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr22:23438484A>G	uc002zwu.1	+	1	1139	c.602A>G	c.(601-603)gAc>gGc	p.D201G	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	201						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.D201D(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AAGATGGTGGACGTGGGGGGG	0.567000														136			60		0	0	0.014410	0	0
HPX	3263	broad.mit.edu	37	11	6453151	6453151	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr11:6453151G>C	uc001mdg.2	-	7	993	c.932C>G	c.(931-933)gCc>gGc	p.A311G	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	311	Hemopexin-like 5.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CCAGGAAAAGGCAGCATCCAC	0.542000														159			83		0	0	0.014410	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	T	T	rs148273194	by1000genomes	TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:12885289G>T	uc001auk.2	-	3	1018	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	274								p.L274L(6)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458000														485			11		7.03913e-09	7.65659e-09	0.013537	1	0
SCN10A	6336	broad.mit.edu	37	3	38835251	38835251	+	Missense_Mutation	SNP	G	A	A	rs140609990		TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr3:38835251G>A	uc003ciq.3	-	0	251	c.251C>T	c.(250-252)cCg>cTg	p.P84L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	84					sensory perception	voltage-gated sodium channel complex		p.P84P(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTGTAGAACGGATCTAGATC	0.572000														187			83		0	0	0.014410	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86162	86162	+	RNA	SNP	T	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chrGL000211.1:86162T>C	uc003bnz.1	+	5		c.910T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TTGAGAATGTTAATGGATACA	0.443000														9			3		0	0	0.014758	0	0
MGAM	8972	broad.mit.edu	37	7	141800677	141800677	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr7:141800677T>G	uc003vwy.3	+	44	5316	c.5262T>G	c.(5260-5262)gaT>gaG	p.D1754E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1754	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGGGATGATGGGCAAAGCA	0.502000														19			22		0	0	0.012319	0	0
ATP6V1A	523	broad.mit.edu	37	3	113503595	113503595	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr3:113503595C>G	uc003eao.3	+	4	587	c.479C>G	c.(478-480)tCg>tGg	p.S160W	ATP6V1A_uc011bik.2_Missense_Mutation_p.S127W	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	160					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTGAGAACTCGCTTATCAAA	0.368000														94			54		0	0	0.014410	0	0
ASB15	142685	broad.mit.edu	37	7	123264837	123264837	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr7:123264837C>A	uc003vku.1	+	7	958	c.666C>A	c.(664-666)caC>caA	p.H222Q	ASB15_uc003vkv.1_Missense_Mutation_p.H222Q|ASB15_uc003vkw.1_Missense_Mutation_p.H222Q	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	222					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGTATGGTCACTGTGACGTGT	0.468000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			30		2.61193e-14	2.89178e-14	0.009535	1	0
BMP1	649	broad.mit.edu	37	8	22022973	22022973	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr8:22022973C>A	uc003xbg.3	+	0	321	c.55C>A	c.(55-57)Ccc>Acc	p.P19T	BMP1_uc011kzb.2_Non-coding_Transcript|BMP1_uc003xbf.3_5'UTR|BMP1_uc003xbb.3_Missense_Mutation_p.P19T|BMP1_uc003xbc.3_5'UTR|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_5'UTR|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	19					cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCTCCCGCGTCCCGGCCGGCC	0.736000														13			4		0.00198382	0.00208469	0.001984	1	0
RFX2	5990	broad.mit.edu	37	19	6013026	6013026	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr19:6013026C>T	uc002meb.3	-	7	1139	c.870G>A	c.(868-870)atG>atA	p.M290I	RFX2_uc002mec.3_Missense_Mutation_p.M265I	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCTGCTGCCGCATGGCCATGT	0.617000														143			73		0	0	0.014410	0	0
PCDH18	54510	broad.mit.edu	37	4	138450855	138450855	+	Silent	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr4:138450855G>A	uc003ihe.4	-	0	2775	c.2388C>T	c.(2386-2388)caC>caT	p.H796H	PCDH18_uc003ihf.4_Silent_p.H789H|PCDH18_uc011cgz.2_Silent_p.H7H|PCDH18_uc003ihg.4_Silent_p.H576H|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	796					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGTGACTGTTGTGACTCTGCC	0.498000														43			37		0	0	0.006999	0	0
RAF1	5894	broad.mit.edu	37	3	12633229	12633229	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr3:12633229T>A	uc003bxf.4	-	10	1586	c.1171A>T	c.(1171-1173)Agg>Tgg	p.R391W	RAF1_uc011aut.2_Missense_Mutation_p.R176W|RAF1_uc011auu.2_Missense_Mutation_p.R309W	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	391	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ACCTCATTCCTGAAGGCCTGG	0.507000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					55			24		0	0	0.005443	0	0
SLX4	84464	broad.mit.edu	37	16	3641173	3641173	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr16:3641173C>G	uc002cvp.2	-	11	3093	c.2466G>C	c.(2464-2466)atG>atC	p.M822I		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	822	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CATCTGCCCACATTGACCTCA	0.468000								Direct reversal of damage						167			64		0	0	0.014410	0	0
FGF21	26291	broad.mit.edu	37	19	49261265	49261265	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr19:49261265C>A	uc002pkn.1	+	3	990	c.418C>A	c.(418-420)Cac>Aac	p.H140N	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.H140N	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	140					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GTCCGAAGCCCACGGCCTCCC	0.632000														121			63		6.25564e-26	7.1824e-26	0.014410	1	0
MLX	6945	broad.mit.edu	37	17	40725220	40725220	+	Splice_Site	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:40725220C>G	uc002iag.3	+	8	2562	c.2497_splice	c.e8+1		MLX_uc002iaf.3_Splice_Site|MLX_uc002iah.3_Splice_Site|PSMC3IP_uc002iaj.3_Intron|PSMC3IP_uc010wgp.1_Intron|PSMC3IP_uc002iai.2_Intron|PSMC3IP_uc002iak.2_Intron|PSMC3IP_uc010wgn.1_Intron|PSMC3IP_uc010wgo.1_Intron	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	Homo sapiens MAX-like protein X (MLX), transcript variant 3, mRNA.						energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TTCAGATGGGCAGCACTGGGC	0.502000														88			8		0	0	0.004482	0	0
CD40	958	broad.mit.edu	37	20	44757638	44757638	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr20:44757638G>C	uc002xrg.1	+	8	870	c.793G>C	c.(793-795)Gat>Cat	p.D265H	CD40_uc002xrh.1_3'UTR|CD40_uc002xrj.1_Non-coding_Transcript|CD40_uc002xrk.1_Non-coding_Transcript	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	265					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of endothelial cell apoptosis|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CACCCAGGAGGATGGCAAAGA	0.582000									Immune Deficiency with Hyper-IgM					135			30		0	0	0.015359	0	0
PLCB2	5330	broad.mit.edu	37	15	40594160	40594160	+	Nonsense_Mutation	SNP	T	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:40594160T>A	uc001zld.3	-	6	881	c.580A>T	c.(580-582)Aaa>Taa	p.K194*	PLCB2_uc010bbo.3_Nonsense_Mutation_p.K194*|PLCB2_uc010ucm.2_Nonsense_Mutation_p.K194*|PLCB2_uc001zle.4_Nonsense_Mutation_p.K194*	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	194					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G193D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCACTCACTTTGCCTTTGGGG	0.582000														44			20		0	0	0.008871	0	0
abParts	0	broad.mit.edu	37	14	106791229	106791229	+	RNA	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr14:106791229C>T	uc021ser.1	-	619		c.17163G>A								Parts of antibodies, mostly variable regions.																		AATCCAGAGGCTGCACAGGAG	0.587000														256			53		0	0	0.014410	0	0
DZANK1	55184	broad.mit.edu	37	20	18433281	18433281	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr20:18433281C>G	uc010zsa.2	-	5	787	c.578G>C	c.(577-579)aGa>aCa	p.R193T	DZANK1_uc002wqr.4_Non-coding_Transcript|DZANK1_uc002wqs.4_Missense_Mutation_p.D24H|DZANK1_uc002wqq.4_Missense_Mutation_p.R174T|DZANK1_uc002wqu.1_Intron|DZANK1_uc010gct.1_Intron	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	Homo sapiens double zinc ribbon and ankyrin repeat domains 1 (DZANK1), mRNA.	0						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GGTGGGTGGTCTAGAACCTGA	0.423000														22			6		0	0	0.001984	0	0
ELTD1	64123	broad.mit.edu	37	1	79402059	79402059	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:79402059T>C	uc001diq.4	-	6	954	c.798A>G	c.(796-798)aaA>aaG	p.K266K		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	266					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GATGAATATGTTTCATGTTAT	0.259000														123			23		0	0	0.012319	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														86			6		0	0	0.001984	0	0
MYH7	4625	broad.mit.edu	37	14	23886422	23886422	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr14:23886422C>T	uc001wjx.3	-	31	4565	c.4459G>A	c.(4459-4461)Gcc>Acc	p.A1487T		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1487					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCATAGGCGTTCTTGAGT	0.597000														158			66		0	0	0.014410	0	0
LRIG2	9860	broad.mit.edu	37	1	113616063	113616063	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:113616063A>T	uc001edf.1	+	0	233	c.35A>T	c.(34-36)cAg>cTg	p.Q12L	LRIG2_uc009wgn.1_5'UTR|BC037540_uc001ede.1_5'Flank	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	12						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CCGGAGGAGCAGTTGCTGGGG	0.642000											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		190			106		0	0	0.014410	0	0
ZFP41	286128	broad.mit.edu	37	8	144332048	144332048	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr8:144332048C>T	uc003yxw.3	+	1	393	c.35C>T	c.(34-36)cCg>cTg	p.P12L	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Missense_Mutation_p.P12L	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	12					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AAGAAGACGCCGACCCCAAGG	0.592000														29			12		0	0	0.010729	0	0
CALML4	91860	broad.mit.edu	37	15	68497600	68497600	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:68497600T>G	uc002arb.3	-	0	849	c.115A>C	c.(115-117)Agc>Cgc	p.S39R	CALML4_uc002arc.3_Missense_Mutation_p.S39R|CALML4_uc002ard.3_Non-coding_Transcript|CALML4_uc002are.3_Non-coding_Transcript|CALML4_uc010bhz.3_Non-coding_Transcript	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN	Homo sapiens calmodulin-like 4 (CALML4), transcript variant 1, mRNA.	39							calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						GGGCCTCGGCTGCTACCCGTG	0.612000														55			25		0	0	0.017118	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	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														14			4		0.000602214	0.000638244	0.014758	1	0
ZZEF1	23140	broad.mit.edu	37	17	3953114	3953114	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:3953114C>T	uc002fxe.3	-	36	5967	c.5903G>A	c.(5902-5904)gGg>gAg	p.G1968E	ZZEF1_uc002fxh.3_Missense_Mutation_p.G282E|ZZEF1_uc002fxi.3_Missense_Mutation_p.G203E|ZZEF1_uc002fxj.1_Missense_Mutation_p.G581E	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1968							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCTCGAGTCCCCATCTGGCAA	0.498000														106			31		0	0	0.014410	0	0
ADAM21	8747	broad.mit.edu	37	14	70925714	70925714	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr14:70925714G>T	uc021rvq.1	+	0	1498	c.1498G>T	c.(1498-1500)Gcc>Tcc	p.A500S	ADAM21_uc001xmd.3_Missense_Mutation_p.A500S	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	500	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TAGTGACAGTGCCTACTGCTA	0.423000														176			17		2.23348e-06	2.38752e-06	0.004007	1	0
GLDN	342035	broad.mit.edu	37	15	51693835	51693835	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:51693835G>A	uc002aba.3	+	8	1242	c.1073G>A	c.(1072-1074)gGc>gAc	p.G358D	GLDN_uc002abb.3_Missense_Mutation_p.G234D	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	358	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CTTCTGAATGGCAGTTACACG	0.483000											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		95			62		0	0	0.014410	0	0
MXRA5	25878	broad.mit.edu	37	X	3238719	3238719	+	Silent	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chrX:3238719A>G	uc004crg.4	-	4	5164	c.5007T>C	c.(5005-5007)agT>agC	p.S1669S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1669						extracellular region		p.S1668S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAATTGTTGTACTTGATAATC	0.438000														64			197		0	0	0.014410	0	0
RAET1L	154064	broad.mit.edu	37	6	150342042	150342042	+	Splice_Site	SNP	T	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr6:150342042T>A	uc011eei.2	-	3	692	c.631_splice	c.e3+1	p.A211_splice		NM_130900	NP_570970	Q5VY80	RET1L_HUMAN	Homo sapiens retinoic acid early transcript 1L (RAET1L), mRNA.	211					antigen processing and presentation|immune response	MHC class I protein complex|anchored to membrane				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		TCCTGTTACCTCCTGCACTTG	0.468000														119			62		0	0	0.014410	0	0
KIAA0907	22889	broad.mit.edu	37	1	155899153	155899153	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:155899153C>G	uc001fmi.1	-	3	422	c.398G>C	c.(397-399)aGt>aCt	p.S133T	KIAA0907_uc001fmj.1_Missense_Mutation_p.S133T|KIAA0907_uc009wrl.1_Non-coding_Transcript|KIAA0907_uc001fml.1_Missense_Mutation_p.S133T|KIAA0907_uc001fmm.3_Missense_Mutation_p.S133T|KIAA0907_uc001fmo.3_Missense_Mutation_p.S133T	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	133										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TGCAGCCCCACTAAGTCGGCT	0.408000														73			45		0	0	0.014410	0	0
TSFM	10102	broad.mit.edu	37	12	58177005	58177005	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr12:58177005C>T	uc001sqi.3	+	1	227	c.170C>T	c.(169-171)aCa>aTa	p.T57I	TSFM_uc021qzq.1_Missense_Mutation_p.T57I|TSFM_uc001sqh.3_Missense_Mutation_p.T57I|TSFM_uc010ssf.2_Missense_Mutation_p.T57I|TSFM_uc010sse.2_5'UTR	NM_005726	NP_005717	P43897	EFTS_HUMAN	Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	57					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CGGCGGAAAACAGGCTACTCC	0.582000											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		187			76		0	0	0.014410	0	0
HDHD2	84064	broad.mit.edu	37	18	44662721	44662721	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr18:44662721T>C	uc002lcs.3	-	1	223	c.90A>G	c.(88-90)gaA>gaG	p.E30E	HDHD2_uc002lct.3_5'UTR	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.	30							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TTTTAAGAGCTTCCTGTGCGC	0.463000														117			66		0	0	0.014410	0	0
PTPRE	5791	broad.mit.edu	37	10	129859261	129859261	+	Silent	SNP	C	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr10:129859261C>A	uc009yat.3	+	8	1020	c.603C>A	c.(601-603)atC>atA	p.I201I	PTPRE_uc001lkb.3_Silent_p.I190I|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Silent_p.I190I|PTPRE_uc001lkd.3_Silent_p.I132I|PTPRE_uc010quq.1_Silent_p.I91I	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	190	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.E200K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CAGACTACATCAATGCTTCCT	0.483000														60			35		3.90053e-15	4.35735e-15	0.012213	1	0
FBXO11	80204	broad.mit.edu	37	2	48050458	48050458	+	Silent	SNP	T	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr2:48050458T>G	uc002rwe.3	-	11	1513	c.1440A>C	c.(1438-1440)gcA>gcC	p.A480A	FBXO11_uc010fbl.3_Silent_p.A396A|FBXO11_uc002rwg.2_Silent_p.A480A|FBXO11_uc010fbk.3_5'UTR|FBXO11_uc021vhe.1_Silent_p.A280A	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	480					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTCAAAGCCTGCTATCCTAT	0.373000			"""Mis, F, D"""		DLBCL									50			27		0	0	0.005443	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr20:29628263A>G	uc010ztl.1	+	2	207	c.175A>G	c.(175-177)Att>Gtt	p.I59V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000														125			5		0	0	0.004482	0	0
USF1	7391	broad.mit.edu	37	1	161011569	161011569	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:161011569T>C	uc001fxi.3	-	5	539	c.344A>G	c.(343-345)cAc>cGc	p.H115R	F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Missense_Mutation_p.H56R	NM_007122	NP_996888	P22415	USF1_HUMAN	Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA.	115					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTAAGTATAGTGCGTCTCAGC	0.572000											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		102			10		0	0	0.008291	0	0
MYO9A	4649	broad.mit.edu	37	15	72192125	72192125	+	Silent	SNP	T	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:72192125T>G	uc002atl.4	-	23	3846	c.3373A>C	c.(3373-3375)Aga>Cga	p.R1125R	MYO9A_uc010biq.3_Silent_p.R745R|MYO9A_uc002atn.1_Silent_p.R1106R|MYO9A_uc002atk.3_5'Flank|MYO9A_uc002atm.1_5'Flank	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1125	IQ 4.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCTTTCCATCTTGCTTGTATG	0.438000														69			42		0	0	0.007835	0	0
NSUN5P1	155400	broad.mit.edu	37	7	75045841	75045841	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr7:75045841A>G	uc003udh.1	+	3	608	c.565A>G	c.(565-567)Aga>Gga	p.R189G						Homo sapiens NOP2/Sun domain family, member 5 pseudogene 1 (NSUN5P1), non-coding RNA.											large_intestine(1)|lung(1)	2						GAGACAGCAAAGAGCCGCAGC	0.572000														49			44		0	0	0.014410	0	0
ABCE1	6059	broad.mit.edu	37	4	146041306	146041306	+	Splice_Site	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr4:146041306G>A	uc003ijx.3	+	11	1584	c.1144_splice	c.e11+1	p.G382_splice	ABCE1_uc003ijy.3_Splice_Site_p.G382_splice|ABCE1_uc010iot.3_Splice_Site	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	382	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GGGGAAAATGGTAAGTTTTCT	0.313000														52			31		0	0	0.009535	0	0
CTPS2	56474	broad.mit.edu	37	X	16685795	16685795	+	Silent	SNP	A	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chrX:16685795A>C	uc004cxk.3	-	11	1986	c.1242T>G	c.(1240-1242)ctT>ctG	p.L414L	CTPS2_uc004cxl.3_Silent_p.L414L|CTPS2_uc004cxm.3_Silent_p.L414L	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	414	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CTTTCAAGTTAAGGCAGTTTC	0.323000														24			49		0	0	0.014410	0	0
C9orf41	138199	broad.mit.edu	37	9	77598695	77598695	+	Silent	SNP	A	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr9:77598695A>T	uc004ajq.3	-	7	1371	c.1218T>A	c.(1216-1218)cgT>cgA	p.R406R	BC043649_uc004ajp.3_Intron	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	Homo sapiens chromosome 9 open reading frame 41 (C9orf41), mRNA.	406								p.V405A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						ATTGTGGCTTACGGACCACAA	0.363000														59			9		0	0	0.010504	0	0
GIPR	2696	broad.mit.edu	37	19	46184876	46184876	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr19:46184876C>G	uc002pcu.1	+	12	1266	c.1167C>G	c.(1165-1167)agC>agG	p.S389R	GIPR_uc002pct.1_Missense_Mutation_p.S389R|GIPR_uc010xxp.1_Missense_Mutation_p.S353R|GIPR_uc010xxq.1_Non-coding_Transcript	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	389					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TCCTGGTCAGCGTCCTCTACT	0.677000														55			27		0	0	0.004656	0	0
TBCD	6904	broad.mit.edu	37	17	80888515	80888515	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:80888515G>C	uc002kfy.1	+	32	3239	c.3109G>C	c.(3109-3111)Gag>Cag	p.E1037Q	TBCD_uc002kfz.3_Missense_Mutation_p.E1037Q|TBCD_uc002kgd.3_Missense_Mutation_p.E29Q	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	1037					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCTTCTGAATGAGAGGTGAGT	0.597000														68			25		0	0	0.018920	0	0
VWC2L	402117	broad.mit.edu	37	2	215440518	215440518	+	Nonsense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr2:215440518G>T	uc002vet.2	+	3	773	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	VWC2L_uc010zjl.1_3'UTR	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	215						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTCGAAACGTGAATGCCAAGG	0.458000														178			78		6.11987e-43	7.1591e-43	0.014410	1	0
CDKL2	8999	broad.mit.edu	37	4	76532405	76532405	+	Silent	SNP	T	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr4:76532405T>C	uc011cbp.2	-	3	1029	c.504A>G	c.(502-504)agA>agG	p.R168R	CDKL2_uc003hiq.3_Silent_p.R168R|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	168	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GTTCTGGAGCTCTGTACCATC	0.453000														72			40		0	0	0.007835	0	0
CABIN1	23523	broad.mit.edu	37	22	24447425	24447425	+	Silent	SNP	T	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr22:24447425T>A	uc002zzi.1	+	7	922	c.795T>A	c.(793-795)atT>atA	p.I265I	CABIN1_uc021wnc.1_Intron|CABIN1_uc002zzj.1_Intron|CABIN1_uc002zzl.2_Silent_p.I265I|CABIN1_uc010guk.1_Silent_p.I220I|CABIN1_uc002zzk.2_Silent_p.I220I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	265					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCAGCCCATTCCTTTCTTCA	0.577000														29			21		0	0	0.012319	0	0
UPK3A	7380	broad.mit.edu	37	22	45683306	45683306	+	Silent	SNP	A	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr22:45683306A>C	uc003bfy.3	+	2	489	c.462A>C	c.(460-462)gcA>gcC	p.A154A	UPK3A_uc010gzy.3_Intron	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	154			A -> P (in dbSNP:rs1057353).		epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane		p.A154A(2)		kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCTGTAACGCACCCCTGTCGG	0.602000														8			4		0	0	0.001984	0	0
CACNA1G	8913	broad.mit.edu	37	17	48653621	48653621	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:48653621A>C	uc002irk.1	+	7	2230	c.1858A>C	c.(1858-1860)Acc>Ccc	p.T620P	CACNA1G_uc002iri.1_Missense_Mutation_p.T620P|CACNA1G_uc002irj.1_Missense_Mutation_p.T620P|CACNA1G_uc002irl.1_Missense_Mutation_p.T620P|CACNA1G_uc002irm.1_Missense_Mutation_p.T620P|CACNA1G_uc002irn.1_Missense_Mutation_p.T620P|CACNA1G_uc002iro.1_Missense_Mutation_p.T620P|CACNA1G_uc002irp.1_Missense_Mutation_p.T620P|CACNA1G_uc002irq.1_Missense_Mutation_p.T620P|CACNA1G_uc002irr.1_Missense_Mutation_p.T620P|CACNA1G_uc002irs.1_Missense_Mutation_p.T620P|CACNA1G_uc002irt.1_Missense_Mutation_p.T620P|CACNA1G_uc002iru.1_Missense_Mutation_p.T620P|CACNA1G_uc002irv.1_Missense_Mutation_p.T620P|CACNA1G_uc002irw.1_Missense_Mutation_p.T620P|CACNA1G_uc002irx.1_Missense_Mutation_p.T533P|CACNA1G_uc002iry.1_Missense_Mutation_p.T533P|CACNA1G_uc002isg.1_Missense_Mutation_p.T533P|CACNA1G_uc002ish.1_Missense_Mutation_p.T533P|CACNA1G_uc002isi.1_Missense_Mutation_p.T533P|CACNA1G_uc002irz.1_Missense_Mutation_p.T533P|CACNA1G_uc002isa.1_Missense_Mutation_p.T533P|CACNA1G_uc002isd.1_Missense_Mutation_p.T533P|CACNA1G_uc002isb.1_Missense_Mutation_p.T533P|CACNA1G_uc002isc.1_Missense_Mutation_p.T533P|CACNA1G_uc002ise.1_Missense_Mutation_p.T533P|CACNA1G_uc002isf.1_Missense_Mutation_p.T533P	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	620					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCAACCCTCACCAGCCTCAA	0.627000														5			4		0	0	0.006214	0	0
PREP	5550	broad.mit.edu	37	6	105825364	105825364	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr6:105825364C>G	uc003prc.3	-	2	384	c.151G>C	c.(151-153)Gtg>Ctg	p.V51L		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	51					proteolysis		serine-type endopeptidase activity	p.V51L(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AGAAATGGCACAGTAATCTTA	0.353000														106			54		0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100692247	100692247	+	Silent	SNP	G	A	A			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr7:100692247G>A	uc003uxp.1	+	4	12710	c.12657G>A	c.(12655-12657)acG>acA	p.T4219T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4219	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGACATTCACGGAACAGGTAA	0.507000														78			41		0	0	0.008740	0	0
DEPDC5	9681	broad.mit.edu	37	22	32193641	32193641	+	Nonsense_Mutation	SNP	A	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr22:32193641A>T	uc011alu.2	+	12	1025	c.823A>T	c.(823-825)Aaa>Taa	p.K275*	DEPDC5_uc011als.2_Nonsense_Mutation_p.K275*|DEPDC5_uc003als.3_Nonsense_Mutation_p.K275*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.K275*|DEPDC5_uc003alr.2_Nonsense_Mutation_p.K275*|DEPDC5_uc011alt.2_Nonsense_Mutation_p.K247*	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	275					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGTAACCATTAAAAAACTCTT	0.438000														26			23		0	0	0.004656	0	0
KDM2B	84678	broad.mit.edu	37	12	121880611	121880611	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr12:121880611C>T	uc001uat.3	-	18	2737	c.2633G>A	c.(2632-2634)cGc>cAc	p.R878H	KDM2B_uc010szy.2_Missense_Mutation_p.R318H|KDM2B_uc001uaq.3_Missense_Mutation_p.R318H|KDM2B_uc001uar.3_Missense_Mutation_p.R469H|KDM2B_uc001uas.3_Missense_Mutation_p.R809H|KDM2B_uc021rfd.1_Missense_Mutation_p.R809H|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.R878H|KDM2B_uc001uao.3_Missense_Mutation_p.R126H|KDM2B_uc010szx.2_Missense_Mutation_p.R126H|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	878					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CAGCGCCATGCGGTCCTCGGC	0.731000														30			3		0	0	0.004672	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904204	21904204	+	RNA	SNP	G	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr17:21904204G>T	uc002gza.2	+	0		c.143G>T								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ctgccaggacggtgttcgggt	0.677000														51			5		1.024e-07	1.10414e-07	0.014758	1	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83212	83212	+	Splice_Site	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chrGL000219.1:83212C>T	uc022brb.1	-	4	454	c.141_splice	c.e4+1	p.K47_splice	LOC283788_uc011mfq.2_Splice_Site					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GTCATCGTTACCTTGATCATT	0.348000														31			3		0	0	0.014758	0	0
AMY2B	280	broad.mit.edu	37	1	104122036	104122036	+	Missense_Mutation	SNP	G	A	A	rs143243690		TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:104122036G>A	uc010ouo.2	+	21	3154	c.1450G>A	c.(1450-1452)Gtt>Att	p.V484I	AMY2B_uc001duq.3_Missense_Mutation_p.V484I|AMY2B_uc001dur.3_Missense_Mutation_p.V484I|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	484					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TAAAATCTACGTTTCTGACGA	0.323000														752			173		0	0	0.014410	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581896	84581896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:84581896C>T	uc002bjz.4	+	15	1977	c.1753C>T	c.(1753-1755)Cag>Tag	p.Q585*	ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.Q585*	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	585	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.V584V(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCGGGTGTGCAGGTCCGTGA	0.582000														116			47		0	0	0.014410	0	0
VPS13C	54832	broad.mit.edu	37	15	62221845	62221845	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:62221845C>G	uc002agz.3	-	50	6232	c.6141G>C	c.(6139-6141)aaG>aaC	p.K2047N	VPS13C_uc002aha.3_Missense_Mutation_p.K2004N|VPS13C_uc002ahb.2_Missense_Mutation_p.K2047N|VPS13C_uc002ahc.2_Missense_Mutation_p.K2004N	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2047					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATACATACAGCTTGTCAAGAA	0.368000														43			25		0	0	0.005443	0	0
TIGD2	166815	broad.mit.edu	37	4	90035227	90035227	+	Nonsense_Mutation	SNP	G	T	T			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr4:90035227G>T	uc003hsk.3	+	0	1260	c.1102G>T	c.(1102-1104)Gaa>Taa	p.E368*	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	Homo sapiens tigger transposable element derived 2 (TIGD2), mRNA.	368	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TGCAATTTATGAAGTGTCAAG	0.363000														66			24		1.77063e-15	1.99598e-15	0.005443	1	0
GIGYF2	26058	broad.mit.edu	37	2	233681733	233681734	+	Frame_Shift_Ins	INS	-	AGGAAAC	AGGAAAC			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:233681733_233681734insAGGAAAC	uc002vtj.4	+	21	2691_2692	c.2424_2425insAGGAAAC	c.(2422-2427)cgaaggfs	p.R808fs	GIGYF2_uc010zmj.1_Frame_Shift_Ins_p.R787fs|GIGYF2_uc002vtg.2_Frame_Shift_Ins_p.R781fs|GIGYF2_uc002vti.4_Frame_Shift_Ins_p.R787fs|GIGYF2_uc002vtk.4_Frame_Shift_Ins_p.R787fs|GIGYF2_uc002vth.4_Frame_Shift_Ins_p.R781fs|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Frame_Shift_Ins_p.R618fs|GIGYF2_uc002vtq.4_Frame_Shift_Ins_p.R120fs	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	787	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AACTTGCCCGAAGGAAACAGGT	0.470													---	79	---	---	11	---					
OGG1	4968	broad.mit.edu	37	3	9798226	9798227	+	Frame_Shift_Ins	INS	-	AA	AA			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:9798226_9798227insAA	uc003bsi.3	+	4	1162_1163	c.819_820insAA	c.(817-822)cacattfs	p.H273fs	OGG1_uc003bsj.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsh.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsl.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsk.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsm.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|OGG1_uc003bsr.2_Frame_Shift_Ins_p.H38fs|OGG1_uc010hcm.2_Intron|OGG1_uc003bsq.2_Intron|OGG1_uc003bsp.2_Frame_Shift_Ins_p.H38fs	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	273					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ATATGTGGCACATTGCCCAACG	0.599								Base excision repair (BER), DNA glycosylases					---	138	---	---	39	---					
C10orf12	26148	broad.mit.edu	37	10	98741324	98741326	+	In_Frame_Del	DEL	TTT	-	-			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr10:98741324_98741326delTTT	uc001kmv.3	+	0	284_286	c.177_179delTTT	c.(175-180)acttta>aca	p.L60del	C10orf12_uc009xvg.2_In_Frame_Del_p.L370del	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	60										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAGAGAATACTTTACAGTGTCCA	0.404													---	40	---	---	32	---					
ANAPC5	51433	broad.mit.edu	37	12	121746455	121746458	+	Frame_Shift_Del	DEL	TTCT	-	-	rs146935401		TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:121746455_121746458delTTCT	uc001uag.3	-	16	2215_2218	c.2093_2096delAGAA	c.(2092-2097)aagaacfs	p.K698fs	ANAPC5_uc010szu.2_Frame_Shift_Del_p.K364fs|ANAPC5_uc001uae.3_Frame_Shift_Del_p.K262fs|ANAPC5_uc010szv.2_Frame_Shift_Del_p.K300fs|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Frame_Shift_Del_p.K586fs	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	698					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCAAAATAGTTCTTGGCTTCATT	0.490													---	242	---	---	187	---					
C15orf52	388115	broad.mit.edu	37	15	40633079	40633079	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:40633079delA	uc001zlh.4	-	0	90	c.74delT	c.(73-75)ttcfs	p.F25fs	C15orf52_uc001zli.1_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	25										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GAGTGGGAGGAAAGCTGGAGC	0.642													---	19	---	---	12	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	-	-			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr16:75690386_75690388delTCC	uc002fet.2	+	2	1223_1225	c.1077_1079delTCC	c.(1075-1080)tatccc>tac	p.P360del		NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	Homo sapiens telomeric repeat binding factor 2, interacting protein (TERF2IP), mRNA.	360					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													---	195	---	---	9	---					
RAB27B	5874	broad.mit.edu	37	18	52555227	52555230	+	Frame_Shift_Del	DEL	CCAA	-	-			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr18:52555227_52555230delCCAA	uc002lfr.3	+	4	588_591	c.345_348delCCAA	c.(343-348)agccaafs	p.S115fs		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	115					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CTTTTCAAGGCCAACTGCAAGCAA	0.402													---	65	---	---	19	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	-	-			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr19:45911859_45911861delGAA	uc002pbr.1	+	2	645_647	c.639_641delGAA	c.(637-642)cggaag>cgg	p.K219del	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_In_Frame_Del_p.K217del|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	217					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity	p.N218fs*58(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													---	389	---	---	8	---					
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	RNA	DEL	T	-	-			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr1:700532delT	uc001abo.3	-	6		c.1084delA								Homo sapiens general transcription factor IIi pseudogene (LOC100288069), non-coding RNA.																		aaaaaaaaaaTTCCTTTGGGA	0.453													---	5	---	---	3	---					
GIGYF2	26058	broad.mit.edu	37	2	233681733	233681734	+	Frame_Shift_Ins	INS	-	AGGAAAC	AGGAAAC			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr2:233681733_233681734insAGGAAAC	uc002vtj.4	+	21	2691_2692	c.2424_2425insAGGAAAC	c.(2422-2427)cgaaggfs	p.R808fs	GIGYF2_uc010zmj.1_Frame_Shift_Ins_p.R787fs|GIGYF2_uc002vtg.2_Frame_Shift_Ins_p.R781fs|GIGYF2_uc002vti.4_Frame_Shift_Ins_p.R787fs|GIGYF2_uc002vtk.4_Frame_Shift_Ins_p.R787fs|GIGYF2_uc002vth.4_Frame_Shift_Ins_p.R781fs|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Frame_Shift_Ins_p.R618fs|GIGYF2_uc002vtq.4_Frame_Shift_Ins_p.R120fs	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	787	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AACTTGCCCGAAGGAAACAGGT	0.470													---	302	---	---	45	---					
OGG1	4968	broad.mit.edu	37	3	9798226	9798227	+	Frame_Shift_Ins	INS	-	AA	AA			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr3:9798226_9798227insAA	uc003bsi.3	+	4	1162_1163	c.819_820insAA	c.(817-822)cacattfs	p.H273fs	OGG1_uc003bsj.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsh.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsl.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsk.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsm.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|OGG1_uc003bsr.2_Frame_Shift_Ins_p.H38fs|OGG1_uc010hcm.2_Intron|OGG1_uc003bsq.2_Intron|OGG1_uc003bsp.2_Frame_Shift_Ins_p.H38fs	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	273					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ATATGTGGCACATTGCCCAACG	0.599								Base excision repair (BER), DNA glycosylases					---	54	---	---	28	---					
C10orf12	26148	broad.mit.edu	37	10	98741324	98741326	+	In_Frame_Del	DEL	TTT	-	-			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr10:98741324_98741326delTTT	uc001kmv.3	+	0	284_286	c.177_179delTTT	c.(175-180)acttta>aca	p.L60del	C10orf12_uc009xvg.2_In_Frame_Del_p.L370del	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	60										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAGAGAATACTTTACAGTGTCCA	0.404													---	71	---	---	37	---					
ANAPC5	51433	broad.mit.edu	37	12	121746455	121746458	+	Frame_Shift_Del	DEL	TTCT	-	-	rs146935401		TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr12:121746455_121746458delTTCT	uc001uag.3	-	16	2215_2218	c.2093_2096delAGAA	c.(2092-2097)aagaacfs	p.K698fs	ANAPC5_uc010szu.2_Frame_Shift_Del_p.K364fs|ANAPC5_uc001uae.3_Frame_Shift_Del_p.K262fs|ANAPC5_uc010szv.2_Frame_Shift_Del_p.K300fs|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Frame_Shift_Del_p.K586fs	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	698					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCAAAATAGTTCTTGGCTTCATT	0.490													---	168	---	---	132	---					
C15orf52	388115	broad.mit.edu	37	15	40633079	40633079	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr15:40633079delA	uc001zlh.4	-	0	90	c.74delT	c.(73-75)ttcfs	p.F25fs	C15orf52_uc001zli.1_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	25										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GAGTGGGAGGAAAGCTGGAGC	0.642													---	20	---	---	9	---					
RAB27B	5874	broad.mit.edu	37	18	52555227	52555230	+	Frame_Shift_Del	DEL	CCAA	-	-			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	acd62c81-b9cd-47ac-b708-52546a54aa37	g.chr18:52555227_52555230delCCAA	uc002lfr.3	+	4	588_591	c.345_348delCCAA	c.(343-348)agccaafs	p.S115fs		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	115					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CTTTTCAAGGCCAACTGCAAGCAA	0.402													---	163	---	---	39	---					
GIGYF2	26058	broad.mit.edu	37	2	233681733	233681734	+	Frame_Shift_Ins	INS	-	AGGAAAC	AGGAAAC			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr2:233681733_233681734insAGGAAAC	uc002vtj.4	+	21	2691_2692	c.2424_2425insAGGAAAC	c.(2422-2427)cgaaggfs	p.R808fs	GIGYF2_uc010zmj.1_Frame_Shift_Ins_p.R787fs|GIGYF2_uc002vtg.2_Frame_Shift_Ins_p.R781fs|GIGYF2_uc002vti.4_Frame_Shift_Ins_p.R787fs|GIGYF2_uc002vtk.4_Frame_Shift_Ins_p.R787fs|GIGYF2_uc002vth.4_Frame_Shift_Ins_p.R781fs|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Frame_Shift_Ins_p.R618fs|GIGYF2_uc002vtq.4_Frame_Shift_Ins_p.R120fs	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	787	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AACTTGCCCGAAGGAAACAGGT	0.470													---	79	---	---	11	---					
OGG1	4968	broad.mit.edu	37	3	9798226	9798227	+	Frame_Shift_Ins	INS	-	AA	AA			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr3:9798226_9798227insAA	uc003bsi.3	+	4	1162_1163	c.819_820insAA	c.(817-822)cacattfs	p.H273fs	OGG1_uc003bsj.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsh.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsl.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsk.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsm.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|OGG1_uc003bsr.2_Frame_Shift_Ins_p.H38fs|OGG1_uc010hcm.2_Intron|OGG1_uc003bsq.2_Intron|OGG1_uc003bsp.2_Frame_Shift_Ins_p.H38fs	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	273					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ATATGTGGCACATTGCCCAACG	0.599								Base excision repair (BER), DNA glycosylases					---	138	---	---	39	---					
C10orf12	26148	broad.mit.edu	37	10	98741324	98741326	+	In_Frame_Del	DEL	TTT	-	-			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr10:98741324_98741326delTTT	uc001kmv.3	+	0	284_286	c.177_179delTTT	c.(175-180)acttta>aca	p.L60del	C10orf12_uc009xvg.2_In_Frame_Del_p.L370del	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	60										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAGAGAATACTTTACAGTGTCCA	0.404													---	40	---	---	32	---					
C15orf52	388115	broad.mit.edu	37	15	40633079	40633079	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:40633079delA	uc001zlh.4	-	0	90	c.74delT	c.(73-75)ttcfs	p.F25fs	C15orf52_uc001zli.1_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	25										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GAGTGGGAGGAAAGCTGGAGC	0.642													---	19	---	---	12	---					
RAB27B	5874	broad.mit.edu	37	18	52555227	52555230	+	Frame_Shift_Del	DEL	CCAA	-	-			TCGA-B3-3925-01A-01D-1252-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136486bc-1d87-4569-82c3-60f67ef7e15c	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr18:52555227_52555230delCCAA	uc002lfr.3	+	4	588_591	c.345_348delCCAA	c.(343-348)agccaafs	p.S115fs		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	115					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CTTTTCAAGGCCAACTGCAAGCAA	0.402													---	65	---	---	19	---					
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	RNA	DEL	T	-	-			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr1:700532delT	uc001abo.3	-	6		c.1084delA								Homo sapiens general transcription factor IIi pseudogene (LOC100288069), non-coding RNA.																		aaaaaaaaaaTTCCTTTGGGA	0.453													---	5	---	---	3	---					
GIGYF2	26058	broad.mit.edu	37	2	233681733	233681734	+	Frame_Shift_Ins	INS	-	AGGAAAC	AGGAAAC			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr2:233681733_233681734insAGGAAAC	uc002vtj.4	+	21	2691_2692	c.2424_2425insAGGAAAC	c.(2422-2427)cgaaggfs	p.R808fs	GIGYF2_uc010zmj.1_Frame_Shift_Ins_p.R787fs|GIGYF2_uc002vtg.2_Frame_Shift_Ins_p.R781fs|GIGYF2_uc002vti.4_Frame_Shift_Ins_p.R787fs|GIGYF2_uc002vtk.4_Frame_Shift_Ins_p.R787fs|GIGYF2_uc002vth.4_Frame_Shift_Ins_p.R781fs|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Frame_Shift_Ins_p.R618fs|GIGYF2_uc002vtq.4_Frame_Shift_Ins_p.R120fs	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	787	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AACTTGCCCGAAGGAAACAGGT	0.470													---	302	---	---	45	---					
OGG1	4968	broad.mit.edu	37	3	9798226	9798227	+	Frame_Shift_Ins	INS	-	AA	AA			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr3:9798226_9798227insAA	uc003bsi.3	+	4	1162_1163	c.819_820insAA	c.(817-822)cacattfs	p.H273fs	OGG1_uc003bsj.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsh.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsl.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsk.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsm.3_Frame_Shift_Ins_p.H273fs|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|OGG1_uc003bsr.2_Frame_Shift_Ins_p.H38fs|OGG1_uc010hcm.2_Intron|OGG1_uc003bsq.2_Intron|OGG1_uc003bsp.2_Frame_Shift_Ins_p.H38fs	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	273					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ATATGTGGCACATTGCCCAACG	0.599								Base excision repair (BER), DNA glycosylases					---	54	---	---	28	---					
C10orf12	26148	broad.mit.edu	37	10	98741324	98741326	+	In_Frame_Del	DEL	TTT	-	-			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr10:98741324_98741326delTTT	uc001kmv.3	+	0	284_286	c.177_179delTTT	c.(175-180)acttta>aca	p.L60del	C10orf12_uc009xvg.2_In_Frame_Del_p.L370del	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	60										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAGAGAATACTTTACAGTGTCCA	0.404													---	71	---	---	37	---					
FAM111B	374393	broad.mit.edu	37	11	58892377	58892377	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr11:58892377delA	uc001nnl.3	+	3	1050	c.807delA	c.(805-807)tcafs	p.S269fs	FAM111B_uc001nnm.3_Frame_Shift_Del_p.S239fs|FAM111B_uc010rko.2_Frame_Shift_Del_p.S239fs|FAM111B_uc021qjn.1_Frame_Shift_Del_p.S239fs	NM_198947	NP_001136176	Q6SJ93	F111B_HUMAN	Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.	269							catalytic activity	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGACATTTCAAAAAAAAAAG	0.313													---	87	---	---	7	---					
DDX12P	440081	broad.mit.edu	37	12	9573309	9573309	+	RNA	DEL	G	-	-	rs66804813		TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr12:9573309delG	uc021qut.1	-	10		c.2089delC			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagCCCCCATGGA	0.582													---	44	---	---	12	---					
C15orf52	388115	broad.mit.edu	37	15	40633079	40633079	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr15:40633079delA	uc001zlh.4	-	0	90	c.74delT	c.(73-75)ttcfs	p.F25fs	C15orf52_uc001zli.1_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	25										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GAGTGGGAGGAAAGCTGGAGC	0.642													---	20	---	---	9	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	370	---	---	7	---					
RAB27B	5874	broad.mit.edu	37	18	52555227	52555230	+	Frame_Shift_Del	DEL	CCAA	-	-			TCGA-B3-3925-01A-01D-1458-08	TCGA-B3-3925-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bb6b194-3bad-4d65-8345-c5a0161b4a0f	6376e148-2cc5-465e-8a01-106e70c0874b	g.chr18:52555227_52555230delCCAA	uc002lfr.3	+	4	588_591	c.345_348delCCAA	c.(343-348)agccaafs	p.S115fs		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	115					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CTTTTCAAGGCCAACTGCAAGCAA	0.402													---	163	---	---	39	---					
