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
SCG3	29106	broad.mit.edu	37	15	51984517	51984517	+	Silent	SNP	G	A	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr15:51984517G>A	uc002abh.3	+	6	1255	c.852G>A	c.(850-852)ctG>ctA	p.L284L	SCG3_uc010ufz.2_Silent_p.L52L	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	284					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATGCGCTACTGAAAAGTATTG	0.383000														76			7		0	0	1	0	0
FTO	79068	broad.mit.edu	37	16	53968001	53968001	+	Silent	SNP	G	A	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:53968001G>A	uc002ehr.3	+	7	1566	c.1344G>A	c.(1342-1344)ctG>ctA	p.L448L	FTO_uc010vha.2_Silent_p.L152L|FTO_uc010cbz.3_Silent_p.L49L|FTO_uc002ehs.3_Non-coding_Transcript	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	Homo sapiens fat mass and obesity associated (FTO), mRNA.	448					DNA dealkylation involved in DNA repair|RNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCCAGAACCTGAGGAGAGAAT	0.478000														39			7		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79593779	79593779	+	Silent	SNP	C	G	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr10:79593779C>G	uc001jzk.3	-	8	1711	c.1641G>C	c.(1639-1641)ctG>ctC	p.L547L	DLG5_uc001jzj.3_Silent_p.L302L|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Silent_p.L151L	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	547					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCTCCCGCCTCAGGTTGTCAC	0.632000														22			3		0	0	1	0	0
IL12A	3592	broad.mit.edu	37	3	159713292	159713292	+	Silent	SNP	C	T	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:159713292C>T	uc003fcx.3	+	6	929	c.708C>T	c.(706-708)ttC>ttT	p.F236F	AK097161_uc003fcw.1_Intron	NM_000882	NP_000873	P29459	IL12A_HUMAN	Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA.	202					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTCATGCTTTCAGAATTCGGG	0.388000														97			8		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32747677	32747677	+	Silent	SNP	G	A	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr13:32747677G>A	uc001utx.3	+	18	2821	c.2325G>A	c.(2323-2325)ggG>ggA	p.G775G	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	775					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGCCCTGGGGCAGCCTGAGG	0.383000														80			7		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9624844	9624844	+	Missense_Mutation	SNP	C	T	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr20:9624844C>T	uc002wnl.2	-	3	678	c.133G>A	c.(133-135)Gat>Aat	p.D45N	PAK7_uc002wnk.2_Missense_Mutation_p.D45N|PAK7_uc002wnj.2_Missense_Mutation_p.D45N|PAK7_uc010gby.1_Missense_Mutation_p.D45N	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	45	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.A44A(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTGGCCGTATCTGCTAACAGG	0.547000														42			5		0	0	1	0	0
LYZL6	57151	broad.mit.edu	37	17	34264854	34264854	+	Missense_Mutation	SNP	C	G	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr17:34264854C>G	uc002hkj.2	-	1	406	c.206G>C	c.(205-207)aGc>aCc	p.S69T	LYZL6_uc002hkk.2_Missense_Mutation_p.S69T	NM_020426	NP_065159	O75951	LYZL6_HUMAN	Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA.	69					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATAGTCAAAGCTTCCATCTGC	0.448000														46			8		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215819926	215819926	+	Splice_Site	SNP	C	T	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:215819926C>T	uc002vew.3	-	43	6613	c.6393_splice	c.e43+1	p.P2131_splice	ABCA12_uc002vev.3_Splice_Site_p.P1813_splice|ABCA12_uc010zjn.2_Splice_Site_p.P1058_splice	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2131					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGGACCTTACCGGATCATTAG	0.338000														28			13		0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	720708	720708	+	Missense_Mutation	SNP	A	G	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:720708A>G	uc002cip.3	+	8	691	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	RHOT2_uc002ciq.3_Missense_Mutation_p.I85V|RHOT2_uc010bqy.3_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.	192	EF-hand 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GCTGACGCGCATCTTCAGGCT	0.682000														91			9		0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241402796	241402796	+	Silent	SNP	C	G	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:241402796C>G	uc002vyw.4	+	3	971	c.750C>G	c.(748-750)gtC>gtG	p.V250V		NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	250					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CGAGAGCTGTCATGAAGCTGG	0.682000														78			9		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141039378	141039378	+	Missense_Mutation	SNP	C	G	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:141039378C>G	uc003llm.3	-	21	3313	c.3235G>C	c.(3235-3237)Gag>Cag	p.E1079Q	ARAP3_uc003lll.3_Missense_Mutation_p.E30Q|ARAP3_uc011dbe.2_Missense_Mutation_p.E741Q|ARAP3_uc003lln.3_Missense_Mutation_p.E910Q	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1079	Rho-GAP.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCAATGAGCTCTTGCAGCACT	0.567000														19			3		0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50100226	50100226	+	Missense_Mutation	SNP	G	A	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr14:50100226G>A	uc001wws.4	-	0	1723	c.1642C>T	c.(1642-1644)Ctt>Ttt	p.L548F	NEMF_uc010anj.1_Intron|DNAAF2_uc001wwt.4_Missense_Mutation_p.L548F	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	Homo sapiens dynein, axonemal, assembly factor 2 (DNAAF2), transcript variant 1, mRNA.	548					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						TCTCCTTGAAGACTTTGCGGC	0.458000														33			4		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101749591	101749591	+	Missense_Mutation	SNP	C	T	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr9:101749591C>T	uc004azb.1	+	3	870	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	222	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTCCAGCAGCTCACCGTGCA	0.597000														138			75		0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131506231	131506231	+	Silent	SNP	G	A	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr10:131506231G>A	uc001lkh.2	+	2	317	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.	97										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CAGCCTGGCTGAATGCCTATT	0.602000								Direct reversal of damage						64			7		0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840198	142840198	+	Silent	SNP	C	T	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:142840198C>T	uc003evm.3	+	1	1479	c.540C>T	c.(538-540)ttC>ttT	p.F180F	CHST2_uc021xex.1_Silent_p.F180F	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	180					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CGTCGTTCTTCGGCGAGCTAT	0.622000														56			5		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44575963	44575963	+	Silent	SNP	C	T	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr7:44575963C>T	uc003tlb.3	-	3	1802	c.1746G>A	c.(1744-1746)ggG>ggA	p.G582G	NPC1L1_uc011kbw.2_Silent_p.G582G|NPC1L1_uc003tlc.3_Silent_p.G582G|NPC1L1_uc003tld.3_Silent_p.G582G	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	582					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.A581T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GACGGGGGTCCCCGGCAGGGT	0.572000														59			5		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2552906	2552906	+	Silent	SNP	G	A	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr20:2552906G>A	uc002wgf.1	+	4	651	c.636G>A	c.(634-636)ctG>ctA	p.L212L	TMC2_uc002wgg.1_Silent_p.L196L|TMC2_uc010zpw.1_Silent_p.L44L|TMC2_uc010zpx.1_Silent_p.L43L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	212	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACAAGATGCTGATGGCCAAGG	0.517000														46			5		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203620264	203620264	+	Missense_Mutation	SNP	C	T	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:203620264C>T	uc010zhx.2	+	4	974	c.964C>T	c.(964-966)Cct>Tct	p.P322S		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	322										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCTTAAGGCTCCTGTTCCAAA	0.398000														132			9		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418953	105418953	+	Silent	SNP	C	G	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr14:105418953C>G	uc010axc.1	-	6	2955	c.2835G>C	c.(2833-2835)ctG>ctC	p.L945L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.L845L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	945						nucleus		p.L945L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCTTTCAGGTCCAGCT	0.602000														186			22		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					56			23		0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48725770	48725770	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:48725770C>T	uc002rwm.3	+	16	2016	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	PPP1R21_uc002rwl.3_Nonsense_Mutation_p.Q565*|PPP1R21_uc002rwk.3_Nonsense_Mutation_p.Q611*|PPP1R21_uc010yok.2_Nonsense_Mutation_p.Q580*	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA.	611										endometrium(2)|kidney(4)|lung(9)	15						AGGTAGTGCCCAGCTGGTTGG	0.483000														34			3		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37173962	37173962	+	Silent	SNP	A	C	C			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:37173962A>C	uc011cpa.1	-	31	6297	c.6066T>G	c.(6064-6066)gcT>gcG	p.A2022A	C5orf42_uc011coy.1_Silent_p.A522A|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.A1097A|C5orf42_uc003jkr.1_Silent_p.A55A	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2022										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAGGTGTTGGAGCAGGTGGTT	0.423000														61			10		0	0	1	0	0
ABHD6	57406	broad.mit.edu	37	3	58260481	58260481	+	Missense_Mutation	SNP	C	G	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:58260481C>G	uc003djs.4	+	5	1030	c.620C>G	c.(619-621)cCa>cGa	p.P207R	ABHD6_uc003djt.4_Missense_Mutation_p.P207R	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	Homo sapiens abhydrolase domain containing 6 (ABHD6), mRNA.	207						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CCGTCTACCCCAGAAGAGATG	0.542000														104			10		0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159789776	159789776	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr4:159789776C>G	uc003iqe.4	+	12	2171	c.1988C>G	c.(1987-1989)tCa>tGa	p.S663*		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	663	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GATGGCTCTTCAAGACTTCCC	0.522000														19			4		0	0	1	0	0
MPV17	4358	broad.mit.edu	37	2	27535568	27535568	+	Silent	SNP	C	T	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:27535568C>T	uc002rjr.3	-	2	305	c.258G>A	c.(256-258)ctG>ctA	p.L86L	MPV17_uc002rjs.3_Silent_p.L86L|MPV17_uc002rjt.3_Non-coding_Transcript	NM_002437	NP_002428	P39210	MPV17_HUMAN	Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, mRNA.	86					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATCTTCTTCAGTGCATCCA	0.527000														43			5		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54784371	54784371	+	Silent	SNP	A	G	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chrX:54784371A>G	uc004dtj.2	-	7	2166	c.2136T>C	c.(2134-2136)gaT>gaC	p.D712D		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	712					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGGTGCCAGAATCCTGTTGTG	0.512000														42			9		0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67663378	67663378	+	Missense_Mutation	SNP	G	C	C			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:67663378G>C	uc002etl.3	+	9	2223	c.1779G>C	c.(1777-1779)aaG>aaC	p.K593N	CTCF_uc010cek.3_Missense_Mutation_p.K265N|CTCF_uc002etm.1_Missense_Mutation_p.K82N	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	593					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AAACGAAGAAGAGTAAACGTG	0.423000														50			4		0	0	1	0	0
UQCRC2	7385	broad.mit.edu	37	16	21974204	21974204	+	Missense_Mutation	SNP	C	T	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:21974204C>T	uc002djx.3	+	5	648	c.512C>T	c.(511-513)aCt>aTt	p.T171I	UQCRC2_uc002djz.1_Missense_Mutation_p.T38I	NM_003366	NP_003357	P22695	QCR2_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein II (UQCRC2), nuclear gene encoding mitochondrial protein, mRNA.	171					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		AATCCGCAGACTCGTAAGTAC	0.373000														43			11		0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31012260	31012260	+	Missense_Mutation	SNP	G	C	C			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:31012260G>C	uc010cad.2	-	3	381	c.269C>G	c.(268-270)tCc>tGc	p.S90C	STX1B_uc010vfd.2_Missense_Mutation_p.S90C	NM_052874	NP_443106	P61266	STX1B_HUMAN	Homo sapiens syntaxin 1B (STX1B), mRNA.	90					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	SNAP receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TTTCAATTTGGACCGAACCTT	0.562000														60			4		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328631	3328642	+	In_Frame_Del	DEL	GACCTGGACAGC	-	-			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr1:3328631_3328642delGACCTGGACAGC	uc001akf.3	+	8	1952_1963	c.1870_1881delGACCTGGACAGC	c.(1870-1881)gacctggacagcdel	p.DLDS624del	PRDM16_uc001ake.3_In_Frame_Del_p.DLDS624del|PRDM16_uc009vlh.3_In_Frame_Del_p.DLDS325del|PRDM16_uc001akc.3_In_Frame_Del_p.DLDS624del	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	624					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.D624Y(2)|p.L625M(2)|p.S623S(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GACGGGCTCGGACCTGGACAGCGACGTGGACA	0.679			T	EVI1	"""MDS, AML"""								---	72	---	---	32	---					
SYNPO	11346	broad.mit.edu	37	5	150036179	150036179	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:150036179delC	uc003lsp.3	+	2	2784	c.2242delC	c.(2242-2244)cccfs	p.P748fs		NM_007286	NP_009217	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 1, mRNA.	807					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGGCGCGGCCCCCCAGCCG	0.756													---	4	---	---	2	---					
