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
IFI16	3428	broad.mit.edu	37	1	159021837	159021837	+	Silent	SNP	T	T	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:159021837T>G	ENST00000295809.7	+	10	2289	c.2034T>G	c.(2032-2034)ctT>ctG	p.L678L	IFI16_ENST00000368132.3_Silent_p.L622L|IFI16_ENST00000448393.2_Silent_p.L566L|IFI16_ENST00000340979.6_Silent_p.L566L|IFI16_ENST00000368131.4_Silent_p.L622L|IFI16_ENST00000430894.2_Silent_p.L626L|IFI16_ENST00000359709.3_Silent_p.L622L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	678	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCAATCAGCTTTGCTCACAAA	0.403													35	53	---	---	---	---
IFI16	3428	broad.mit.edu	37	1	159021848	159021848	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:159021848C>A	ENST00000295809.7	+	10	2300	c.2045C>A	c.(2044-2046)aCt>aAt	p.T682N	IFI16_ENST00000368132.3_Missense_Mutation_p.T626N|IFI16_ENST00000448393.2_Missense_Mutation_p.T570N|IFI16_ENST00000340979.6_Missense_Mutation_p.T570N|IFI16_ENST00000368131.4_Missense_Mutation_p.T626N|IFI16_ENST00000430894.2_Missense_Mutation_p.T630N|IFI16_ENST00000359709.3_Missense_Mutation_p.T626N			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	682	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGCTCACAAACTAAAGGAAGT	0.393													36	54	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169580817	169580817	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:169580817A>G	ENST00000263686.6	-	7	1097	c.1060T>C	c.(1060-1062)Tgc>Cgc	p.C354R	SELP_ENST00000367794.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.C292R|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C292R|SELP_ENST00000367792.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	354	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CCGGGCTGGCACTCAAATTTA	0.552													4	104	---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183093828	183093828	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:183093828G>A	ENST00000258341.4	+	14	2721	c.2464G>A	c.(2464-2466)Gtg>Atg	p.V822M		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	822	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAACGGCCCTGTGAGACTTTG	0.498													36	61	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197297963	197297963	+	Missense_Mutation	SNP	C	C	T	rs62635651		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:197297963C>T	ENST00000367400.3	+	2	617	c.482C>T	c.(481-483)gCc>gTc	p.A161V	CRB1_ENST00000367399.2_Missense_Mutation_p.A161V|CRB1_ENST00000538660.1_Missense_Mutation_p.A161V|CRB1_ENST00000535699.1_Missense_Mutation_p.A92V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	161	EGF-like 4; calcium-binding (Potential).		A -> V (in RP12).		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAAAATGGGGCCGTGTGCCAG	0.507													7	26	---	---	---	---
IQCA1	79781	broad.mit.edu	37	2	237285745	237285745	+	Splice_Site	SNP	C	C	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr2:237285745C>A	ENST00000409907.3	-	13	1836		c.e13+1		IQCA1_ENST00000431676.2_Splice_Site|IQCA1_ENST00000309507.5_Splice_Site	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1								ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TGTGTACTCACCAATGTAATC	0.418													22	28	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55540777	55540777	+	Silent	SNP	T	T	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr8:55540777T>A	ENST00000220676.1	+	4	4483	c.4335T>A	c.(4333-4335)tcT>tcA	p.S1445S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1445					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CACGGACTTCTGAAGAACCAG	0.343													22	51	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25887029	25887029	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr10:25887029G>A	ENST00000376351.3	+	11	2833	c.2474G>A	c.(2473-2475)aGa>aAa	p.R825K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	825						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GACCACGTGAGAGACCAAACG	0.493													16	61	---	---	---	---
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			26	54	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55658642	55658642	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr11:55658642G>C	ENST00000449290.2	+	7	985	c.893G>C	c.(892-894)aGt>aCt	p.S298T	TRIM51_ENST00000244891.3_Missense_Mutation_p.S155T	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	298	B30.2/SPRY.					intracellular	zinc ion binding										AGAGCCAATAGTCATATCTTC	0.333													28	45	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2566835	2566835	+	Silent	SNP	C	C	T			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr12:2566835C>T	ENST00000399655.1	+	5	985	c.720C>T	c.(718-720)cgC>cgT	p.R240R	CACNA1C_ENST00000399601.1_Silent_p.R240R|CACNA1C_ENST00000347598.4_Silent_p.R240R|CACNA1C_ENST00000399641.1_Silent_p.R240R|CACNA1C_ENST00000399595.1_Silent_p.R240R|CACNA1C_ENST00000399603.1_Silent_p.R240R|CACNA1C_ENST00000480911.1_Silent_p.R240R|CACNA1C_ENST00000402845.3_Silent_p.R240R|CACNA1C_ENST00000335762.5_Silent_p.R240R|CACNA1C_ENST00000399629.1_Silent_p.R240R|CACNA1C_ENST00000399606.1_Silent_p.R240R|CACNA1C_ENST00000399649.1_Silent_p.R240R|CACNA1C_ENST00000327702.7_Silent_p.R240R|CACNA1C_ENST00000399638.1_Silent_p.R240R|CACNA1C_ENST00000399591.1_Silent_p.R240R|CACNA1C_ENST00000399597.1_Silent_p.R240R|CACNA1C_ENST00000399621.1_Silent_p.R240R|CACNA1C_ENST00000399637.1_Silent_p.R240R|CACNA1C_ENST00000406454.3_Silent_p.R240R|CACNA1C_ENST00000399644.1_Silent_p.R240R|CACNA1C_ENST00000344100.3_Silent_p.R240R|CACNA1C_ENST00000399634.1_Silent_p.R240R|CACNA1C_ENST00000399617.1_Silent_p.R240R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	240					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGGCCTTCCGCGTGCTGCGCC	0.552													20	217	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11532900	11532900	+	Splice_Site	SNP	C	C	T	rs141702885	by1000genomes	TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:11532900C>T	ENST00000262442.4	+	7	1585	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	DNAH9_ENST00000454412.2_Splice_Site_p.T506M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCAAAGCACGGTAGGGTTG	0.507													4	43	---	---	---	---
ALDOC	230	broad.mit.edu	37	17	26902441	26902441	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:26902441A>G	ENST00000226253.4	-	2	585	c.110T>C	c.(109-111)gTa>gCa	p.V37A	ALDOC_ENST00000395319.3_Missense_Mutation_p.V37A|ALDOC_ENST00000395321.2_Missense_Mutation_p.V37A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	37					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CCACTTACCTACAGACTCATC	0.567											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	41	---	---	---	---
CCDC40	55036	broad.mit.edu	37	17	78061450	78061450	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:78061450C>G	ENST00000397545.4	+	15	2521	c.2494C>G	c.(2494-2496)Cac>Gac	p.H832D	CCDC40_ENST00000374877.3_Missense_Mutation_p.H832D	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	832					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GATCGAGCACCACATGAAGGA	0.542													6	19	---	---	---	---
CCBE1	147372	broad.mit.edu	37	18	57133976	57133976	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr18:57133976T>C	ENST00000439986.4	-	5	585	c.548A>G	c.(547-549)gAc>gGc	p.D183G	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	183					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CTTACCAGTGTCATTGGGATA	0.398													30	114	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45377223	45377223	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr19:45377223C>T	ENST00000252483.5	+	4	826	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	PVRL2_ENST00000252485.4_Missense_Mutation_p.R276C	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	276	Ig-like C2-type 2.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GTACCTCGGCCGTACTGATGC	0.602													30	51	---	---	---	---
SON	6651	broad.mit.edu	37	21	34924043	34924043	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr21:34924043T>G	ENST00000356577.4	+	3	2981	c.2506T>G	c.(2506-2508)Tta>Gta	p.L836V	SON_ENST00000300278.4_Missense_Mutation_p.L836V|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.L836V|SON_ENST00000290239.6_Missense_Mutation_p.L836V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	836	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTCCCAGATGTTAGCAACCAG	0.507													89	169	---	---	---	---
IL1RAPL2	26280	broad.mit.edu	37	X	104984612	104984612	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chrX:104984612C>A	ENST00000372582.1	+	8	1732	c.976C>A	c.(976-978)Ctg>Atg	p.L326M	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L326M	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	326	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGAAGCTGACCTGGCGAATTA	0.398													48	19	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39932270	39932279	+	Frame_Shift_Del	DEL	GATGTAACTT	GATGTAACTT	-			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chrX:39932270_39932279delGATGTAACTT	ENST00000342274.4	-	4	2682_2691	c.2320_2329delAAGTTACATC	c.(2320-2331)aagttacatccafs	p.KLHP774fs	BCOR_ENST00000378444.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.KLHP774fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	774					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGACATCTGGATGTAACTTGGTGCTGCTA	0.524			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						71	58	---	---	---	---
