Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C1orf173	127254	broad.mit.edu	37	1	75038884	75038884	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:75038884C>A	ENST00000326665.5	-	14	2728	c.2510G>T	c.(2509-2511)aGg>aTg	p.R837M	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	837	Glu-rich.							p.R837M(1)|p.R837K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCTGCCCCCCTTTCTATGCC	0.562													21	227	---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	107961230	107961230	+	Silent	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:107961230G>A	ENST00000370067.1	+	6	1743	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370071.2_Silent_p.P372P|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370068.1_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370061.3_Silent_p.P372P|NTNG1_ENST00000370070.2_Silent_p.P372P|NTNG1_ENST00000370066.1_Silent_p.P372P			Q9Y2I2	NTNG1_HUMAN	netrin G1	380	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding	p.P372P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GGATATGGCCGAATATTTCTT	0.368													16	26	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111969101	111969101	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:111969101T>C	ENST00000369732.3	-	3	273	c.218A>G	c.(217-219)gAt>gGt	p.D73G	OVGP1_ENST00000540696.1_Missense_Mutation_p.D13G	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	73					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	p.D73G(1)|p.D115G(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AATTTTCTCATCCTGGAGATC	0.428													11	201	---	---	---	---
LCE2D	353141	broad.mit.edu	37	1	152636733	152636733	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:152636733G>T	ENST00000368784.1	+	2	207	c.152G>T	c.(151-153)aGc>aTc	p.S51I		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	51	Cys-rich.				keratinization			p.S51I(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGTCCCAGCTCTGGGAGC	0.647													109	191	---	---	---	---
AIM2	9447	broad.mit.edu	37	1	159033301	159033301	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:159033301G>A	ENST00000368130.4	-	5	1268	c.980C>T	c.(979-981)aCa>aTa	p.T327I		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	327	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		p.T327I(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AACTCCAGATGTCAGCTGTAG	0.423													91	348	---	---	---	---
CR1L	1379	broad.mit.edu	37	1	207870862	207870862	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:207870862C>A	ENST00000508064.2	+	6	937	c.877C>A	c.(877-879)Cca>Aca	p.P293T	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	293	Sushi 5.					cytoplasm|extracellular region|membrane		p.P293T(1)|p.P301T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCAGCCACCTCCAGATGTCCT	0.478													110	249	---	---	---	---
CD46	4179	broad.mit.edu	37	1	207932991	207932991	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:207932991T>G	ENST00000358170.2	+	4	553	c.397T>G	c.(397-399)Tta>Gta	p.L133V	CD46_ENST00000367047.1_Missense_Mutation_p.L70V|CD46_ENST00000367041.1_Missense_Mutation_p.L133V|CD46_ENST00000480003.1_Missense_Mutation_p.L133V|CD46_ENST00000354848.1_Missense_Mutation_p.L133V|CD46_ENST00000357714.1_Missense_Mutation_p.L133V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.L133V|CD46_ENST00000367042.1_Missense_Mutation_p.L133V|CD46_ENST00000441839.2_Missense_Mutation_p.L133V|CD46_ENST00000360212.2_Missense_Mutation_p.L133V|CD46_ENST00000322875.4_Missense_Mutation_p.L133V|CD46_ENST00000361067.1_Missense_Mutation_p.L133V	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	133	Sushi 2.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	p.L133V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TAGTTATTACTTAATTGGTGA	0.279													23	45	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236760202	236760202	+	Silent	SNP	C	C	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:236760202C>G	ENST00000366582.3	-	6	792	c.678G>C	c.(676-678)tcG>tcC	p.S226S	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Silent_p.S226S	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	226					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.S226S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTACCAGCGCCGACACTATGG	0.448													3	116	---	---	---	---
TFB2M	64216	broad.mit.edu	37	1	246729167	246729167	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:246729167G>C	ENST00000366514.4	-	1	459	c.274C>G	c.(274-276)Cca>Gca	p.P92A	TFB2M_ENST00000544618.1_Missense_Mutation_p.P92A	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	92					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	p.P92A(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			GGTCTACTTGGTTTTCCCAAA	0.473													3	137	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004290	248004290	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:248004290C>A	ENST00000355784.2	-	1	964	c.909G>T	c.(907-909)aaG>aaT	p.K303N		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K303N(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTCATGACCTTTCTAACAG	0.378													49	57	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125367413	125367413	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr2:125367413C>A	ENST00000431078.1	+	12	2153	c.1789C>A	c.(1789-1791)Cag>Aag	p.Q597K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	597	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.Q597K(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTACAGGCACCAGGGGAATAC	0.527													4	162	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195515854	195515854	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr3:195515854G>A	ENST00000463781.3	-	2	3056	c.2597C>T	c.(2596-2598)tCg>tTg	p.S866L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S866L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	871	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S866L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGACGATCGAAGACGCCAT	0.592													4	54	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73186511	73186511	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr4:73186511C>G	ENST00000286657.4	-	7	1058	c.1022G>C	c.(1021-1023)aGa>aCa	p.R341T		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	341	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.R341T(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGATCAGATCTTTGCTGTTG	0.443													10	227	---	---	---	---
EFHC1	114327	broad.mit.edu	37	6	52285247	52285247	+	Silent	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:52285247G>A	ENST00000371068.5	+	1	142	c.39G>A	c.(37-39)ccG>ccA	p.P13P	EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	13						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	p.P13P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CCTTTCTTCCGGGCACGTCCT	0.622													3	72	---	---	---	---
SMPDL3A	10924	broad.mit.edu	37	6	123127429	123127429	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:123127429G>A	ENST00000368440.4	+	7	1148	c.971G>A	c.(970-972)aGt>aAt	p.S324N	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.S193N	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	324					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	p.S324N(1)		breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CCAGTGAAGAGTGTTTTAGAA	0.358													14	124	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028387	100028387	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr7:100028387A>C	ENST00000310512.2	+	1	1134	c.746A>C	c.(745-747)cAt>cCt	p.H249P	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	249							methyltransferase activity	p.H249P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATGAGGGCCATGTAGTTCTT	0.582													18	291	---	---	---	---
VGF	7425	broad.mit.edu	37	7	100807590	100807590	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr7:100807590C>G	ENST00000249330.2	-	2	774	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	VGF_ENST00000445482.2_Missense_Mutation_p.E179Q	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	179					response to cAMP	extracellular space|transport vesicle	growth factor activity	p.E179Q(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCGCCGTCTCCTGCTGGCGC	0.672													3	80	---	---	---	---
KLF10	7071	broad.mit.edu	37	8	103664291	103664291	+	Splice_Site	SNP	T	T	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr8:103664291T>A	ENST00000395884.3	-	3	1140		c.e3-2		KLF10_ENST00000285407.6_Splice_Site	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10						cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			AGTCAAACACTAAAGAAAAGG	0.333											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	74	---	---	---	---
ZHX1	11244	broad.mit.edu	37	8	124265827	124265827	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr8:124265827T>C	ENST00000395571.3	-	3	2977	c.2360A>G	c.(2359-2361)gAt>gGt	p.D787G	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.D787G|ZHX1_ENST00000522655.1_Missense_Mutation_p.D787G	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	787					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D787G(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGGTAATAATCCTTAAGTAT	0.423													6	565	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79981645	79981645	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr9:79981645A>T	ENST00000360280.3	+	61	8588	c.8328A>T	c.(8326-8328)ttA>ttT	p.L2776F	VPS13A_ENST00000357409.5_Missense_Mutation_p.L2776F|VPS13A_ENST00000376636.3_Missense_Mutation_p.L2737F|VPS13A_ENST00000376634.4_Missense_Mutation_p.L2776F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2776					Golgi to endosome transport|protein transport	intracellular	protein binding	p.L2776F(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTTTTAGTTACATTTAAGTG	0.269													4	79	---	---	---	---
SH2D3C	10044	broad.mit.edu	37	9	130504081	130504081	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr9:130504081G>C	ENST00000314830.8	-	9	2187	c.2074C>G	c.(2074-2076)Ctg>Gtg	p.L692V	SH2D3C_ENST00000373276.3_Missense_Mutation_p.L624V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L534V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L535V|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L338V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L532V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	692	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCATGTCCAGGGCACCCATG	0.637													15	32	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89720826	89720826	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr10:89720826A>G	ENST00000371953.3	+	8	2334	c.977A>G	c.(976-978)gAc>gGc	p.D326G	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	326	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.D326G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AATGATCTTGACAAAGCAAAT	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			7	161	---	---	---	---
SLC5A12	159963	broad.mit.edu	37	11	26734248	26734248	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr11:26734248T>A	ENST00000396005.3	-	2	654	c.345A>T	c.(343-345)ttA>ttT	p.L115F	SLC5A12_ENST00000280467.6_Missense_Mutation_p.L115F	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	115					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.L115F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ATCGTAGTTGTAAGTACTAAA	0.428													8	453	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55595427	55595427	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr11:55595427C>A	ENST00000378397.1	+	1	733	c.733C>A	c.(733-735)Ctc>Atc	p.L245I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L245I(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGCCTCCCACCTCACAGCCAT	0.498										HNSCC(27;0.073)			5	179	---	---	---	---
UBC	7316	broad.mit.edu	37	12	125398090	125398090	+	Silent	SNP	C	C	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr12:125398090C>T	ENST00000536769.1	-	1	1804	c.228G>A	c.(226-228)ggG>ggA	p.G76G	UBC_ENST00000538617.1_Silent_p.G76G|UBC_ENST00000546120.1_Silent_p.G76G|UBC_ENST00000339647.5_Silent_p.G76G			P0CG48	UBC_HUMAN	ubiquitin C	76	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|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	p.G76G(1)		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)		AGATTTGCATCCCACCTCTGA	0.532													8	346	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25376711	25376711	+	Splice_Site	SNP	T	T	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr13:25376711T>A	ENST00000255324.5	+	14	2001		c.e14+2		RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.6_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.?(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTAGCAAAGTAAGTAACTTA	0.323													5	183	---	---	---	---
PCSK6	5046	broad.mit.edu	37	15	101938639	101938639	+	Silent	SNP	A	A	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr15:101938639A>C	ENST00000348070.1	-	8	962	c.963T>G	c.(961-963)gcT>gcG	p.A321A	PCSK6_ENST00000358417.3_Silent_p.A321A|PCSK6_ENST00000398181.2_Silent_p.A321A|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Silent_p.A321A|PCSK6_ENST00000331826.7_Silent_p.A156A	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	322	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.A321A(3)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGCCTGCTTAGCCAGTCGGC	0.552													7	171	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61935093	61935093	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr16:61935093C>A	ENST00000577390.1	-	3	1491	c.537G>T	c.(535-537)atG>atT	p.M179I	CDH8_ENST00000584337.1_Missense_Mutation_p.M179I|CDH8_ENST00000299345.6_Missense_Mutation_p.M179I|CDH8_ENST00000577730.1_Missense_Mutation_p.M179I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	179	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.M179I(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCAAAATGGACATTTCTGGCA	0.383													5	193	---	---	---	---
POLDIP2	26073	broad.mit.edu	37	17	26680002	26680002	+	Silent	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr17:26680002G>A	ENST00000540200.1	-	7	554	c.555C>T	c.(553-555)tcC>tcT	p.S185S	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	186						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCTGATCAGTGGAGGTGTAGG	0.488													17	41	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7174736	7174736	+	Silent	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:7174736C>A	ENST00000341500.5	-	4	1020	c.981G>T	c.(979-981)ctG>ctT	p.L327L	INSR_ENST00000302850.5_Silent_p.L327L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	327	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.L327L(3)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGGGGTGCACAGCAAGCTAA	0.587													3	37	---	---	---	---
SPC24	147841	broad.mit.edu	37	19	11258496	11258496	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:11258496C>A	ENST00000592540.1	-	4	516	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component	162	Interaction with the C-terminus of SPBC25.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.G162V(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						AAGGATACTGCCTTTGACCAT	0.438													3	37	---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48202015	48202015	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:48202015C>T	ENST00000396720.3	+	12	3567	c.3373C>T	c.(3373-3375)Ccc>Tcc	p.P1125S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1125							protein binding	p.P1125S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGGCGCCCTCCCCTCCCCCAG	0.682											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168807995	168807995	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr3:168807995delT	ENST00000464456.1	-	13	3803	c.2603delA	c.(2602-2604)aagfs	p.K868fs	MECOM_ENST00000460814.1_Frame_Shift_Del_p.K868fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K877fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.K1056fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.K878fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.K877fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K878fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.K942fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACCAAAGCCTTTTCATCTTT	0.318													38	286	---	---	---	---
CEP57L1	285753	broad.mit.edu	37	6	109476463	109476466	+	Frame_Shift_Del	DEL	AAGG	AAGG	-			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:109476463_109476466delAAGG	ENST00000521277.1	+	7	1087_1090	c.562_565delAAGG	c.(562-567)aaggaafs	p.KE188fs	CEP57L1_ENST00000517392.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000523787.1_Frame_Shift_Del_p.KE207fs|CEP57L1_ENST00000519095.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368970.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000359793.3_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000521522.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000407272.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368968.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000336977.4_Frame_Shift_Del_p.KE128fs|CEP57L1_ENST00000520883.1_Frame_Shift_Del_p.KE128fs			Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	204						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AGAAAAACTTAAGGAAGAAGAACA	0.275													33	134	---	---	---	---
VRK3	51231	broad.mit.edu	37	19	50511057	50511058	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:50511057_50511058insG	ENST00000599538.1	-	5	979_980	c.315_316insC	c.(313-318)cccaaafs	p.K106fs	VRK3_ENST00000601912.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000594092.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000316763.3_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000594948.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000377011.2_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000601341.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000443401.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	106						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGGCTGCTTTTGGGGGTTGGGG	0.564													7	251	---	---	---	---
