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	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CSMD2	114784	broad.mit.edu	37	1	33985468	33985468	+	Silent	SNP	C	C	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:33985468C>A	uc001bxm.1	-	68	10857	c.10680G>T	c.(10678-10680)ctG>ctT	p.L3560L	CSMD2_uc001bxn.1_Silent_p.L3416L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3416						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAAAGGCACCAGGATCGCGG	0.597000													26	38					0	0	1	0	0
HBZ	3050	broad.mit.edu	37	16	202931	202931	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr16:202931G>A	uc002cft.1	+	0	78	c.23G>A	c.(22-24)aGg>aAg	p.R8K		NM_005332	NP_005323	P02008	HBAZ_HUMAN	Homo sapiens hemoglobin, zeta (HBZ), mRNA.	8						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				AAGACTGAGAGGACCATCATT	0.632000											OREG0003684	type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	105					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57490363	57490363	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr12:57490363T>A	uc009zpg.3	-	21	2685	c.2683A>T	c.(2683-2685)Agt>Tgt	p.S895C	STAT6_uc009zpe.3_Missense_Mutation_p.S846C|STAT6_uc001sna.3_Missense_Mutation_p.S846C|STAT6_uc009zpf.3_Missense_Mutation_p.S846C|STAT6_uc010srb.2_Missense_Mutation_p.S736C|STAT6_uc010src.2_Missense_Mutation_p.S736C|STAT6_uc010srd.2_Missense_Mutation_p.S736C	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	846					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GATCACCAACTGGGGTTGGCC	0.607000													5	292					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57078936	57078936	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:57078936G>A	uc003xsq.4	-	2	1820	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	PLAG1_uc003xsr.4_Missense_Mutation_p.P457S|PLAG1_uc010lyi.3_Missense_Mutation_p.P457S|PLAG1_uc010lyj.3_Missense_Mutation_p.P375S|PLAG1_uc022aur.1_Missense_Mutation_p.P375S	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	457	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTTTGTGGGGGGAGCTGGGAA	0.478000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								4	189					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27024968	27024968	+	Silent	SNP	C	C	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:27024968C>T	uc010crt.3	+	32	4560	c.4368C>T	c.(4366-4368)acC>acT	p.T1456T	SUPT6H_uc002hby.3_Silent_p.T1456T	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1456					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGAAGCCCACCTTCATCCCTT	0.522000													27	60					0	0	1	0	0
IGFBP7	3490	broad.mit.edu	37	4	57976131	57976131	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr4:57976131G>A	uc003hcn.3	-	0	421	c.387C>T	c.(385-387)agC>agT	p.S129S	IGFBP7_uc011cag.2_Silent_p.S129S|LOC255130_uc003hco.3_Non-coding_Transcript	NM_001553	NP_001544	Q16270	IBP7_HUMAN	Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	129	Kazal-like.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTGGCAGCCGCTCGGGTAGG	0.721000													2	2					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931990	73931990	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr5:73931990G>A	uc003kdc.4	-	1	1452	c.321C>T	c.(319-321)tcC>tcT	p.S107S	ENC1_uc011css.2_Silent_p.S34S|ENC1_uc021yao.1_Silent_p.S107S	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	107	BTB.				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGACCCGGGAGGAGTACGCAT	0.512000													3	133					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940551	144940551	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:144940551C>A	uc003zaa.1	-	0	6884	c.6871G>T	c.(6871-6873)Gtg>Ttg	p.V2291L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2291						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.V2291M(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCCCACCACGCCCGCGGCC	0.721000													11	170					0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69597225	69597225	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr2:69597225C>T	uc002sfi.2	-	2	314	c.131G>A	c.(130-132)gGa>gAa	p.G44E	GFPT1_uc002sfh.3_Missense_Mutation_p.G44E	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	44	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATCATTGCCTCCATCAAATCC	0.338000													45	74					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127654570	127654570	+	Splice_Site	SNP	C	C	G			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr5:127654570C>G	uc003kuu.3	-	35	5033	c.4594_splice	c.e35+1	p.D1532_splice		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1532	EGF-like 26; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTGACCATACCTGTACAGTT	0.383000													4	140					0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36903501	36903501	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr13:36903501T>C	uc001uvn.3	-	4	1432	c.1162A>G	c.(1162-1164)Agg>Ggg	p.R388G	SPG20_uc010ten.2_Intron|SPG20_uc001uvm.3_Missense_Mutation_p.R388G|SPG20_uc001uvo.3_Missense_Mutation_p.R388G|SPG20_uc001uvq.3_Missense_Mutation_p.R388G|SPG20_uc001uvp.2_Missense_Mutation_p.R388G	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	388					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTATTTACCCTTTTTCCACGT	0.373000													3	242					0	0	1	0	0
MBIP	51562	broad.mit.edu	37	14	36789689	36789689	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:36789689A>C	uc001wtm.2	-	0	194	c.106T>G	c.(106-108)Tcc>Gcc	p.S36A	MBIP_uc001wto.2_Missense_Mutation_p.S36A|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.S36A	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.	36					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GTGTGTAGGGAGCGAAAGATT	0.577000													75	93					0	0	1	0	0
TWIST1	7291	broad.mit.edu	37	7	19156404	19156404	+	Nonsense_Mutation	SNP	C	C	A	rs104894058		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:19156404C>A	uc003sum.3	-	0	892	c.541G>T	c.(541-543)Gag>Tag	p.E181*	TWIST1_uc022aah.1_Nonsense_Mutation_p.E181*	NM_000474	NP_000465	Q15672	TWST1_HUMAN	Homo sapiens twist homolog 1 (Drosophila) (TWIST1), mRNA.	181	Sufficient for transactivation activity (By similarity).				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.E181*(2)		lung(2)|upper_aerodigestive_tract(1)	3						CTGAGCCGCTCGTGAGCCACA	0.657000													16	26					0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457437	124457437	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr10:124457437G>A	uc001lgn.3	-	2	852	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	274										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GCGATGGACCGTTCCGGTTTC	0.378000													4	211					0	0	1	0	0
TK1	7083	broad.mit.edu	37	17	76178724	76178724	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:76178724G>T	uc002juw.2	-	3	459	c.249C>A	c.(247-249)gaC>gaA	p.D83E		NM_003258	NP_003249	P04183	KITH_HUMAN	Homo sapiens thymidine kinase 1, soluble (TK1), mRNA.	83					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			CCTGGGCCACGTCTCGGAGCA	0.632000													11	10					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724401	38724401	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:38724401C>T	uc001wum.1	-	0	1174	c.827G>A	c.(826-828)gGc>gAc	p.G276D		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	276	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CAGCTCGAAGCCCGTAGCACA	0.667000													4	173					0	0	1	0	0
DOK2	9046	broad.mit.edu	37	8	21767190	21767190	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:21767190G>A	uc003wzx.1	-	4	964	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	DOK2_uc003wzy.1_Missense_Mutation_p.R291W|DOK2_uc003wzz.1_Missense_Mutation_p.R137W|DOK2_uc010lth.1_Missense_Mutation_p.R137W	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	291	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCCCGAGGCCGTGGAGCAGGC	0.677000													4	165					0	0	1	0	0
C10orf47	254427	broad.mit.edu	37	10	11908732	11908732	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr10:11908732C>T	uc001ikx.3	+	2	495	c.341C>T	c.(340-342)gCa>gTa	p.A114V	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	114										central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						GTGCAGCCAGCACCTGGCGCC	0.642000													3	83					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389724	150389724	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:150389724G>A	uc003who.3	+	2	438	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	117						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCTGGGCCGCTATACCTCA	0.552000													3	56					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228467094	228467094	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:228467094G>A	uc009xez.1	+	26	7389	c.7345G>A	c.(7345-7347)Gtg>Atg	p.V2449M	OBSCN_uc001hsn.3_Missense_Mutation_p.V2449M|OBSCN_uc001hsp.1_Missense_Mutation_p.V148M|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2449					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACCGGGCCCGTGCACTTCAC	0.697000													3	102					0	0	1	0	0
CNOT7	29883	broad.mit.edu	37	8	17092255	17092255	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:17092255C>G	uc003wxf.1	-	4	756	c.588G>C	c.(586-588)aaG>aaC	p.K196N	CNOT7_uc003wxg.1_Missense_Mutation_p.K196N|CNOT7_uc003wxh.1_Missense_Mutation_p.K196N	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 7 (CNOT7), transcript variant 1, mRNA.	196					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		TCATGAGGTACTTCACATCAT	0.413000													39	100					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26722176	26722176	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:26722176G>A	uc003xfc.1	-	0	747	c.311C>T	c.(310-312)gCa>gTa	p.A104V	ADRA1A_uc010lul.1_Missense_Mutation_p.A104V|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.A104V|ADRA1A_uc010lum.1_Missense_Mutation_p.A104V|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.A104V|ADRA1A_uc003xfh.1_Missense_Mutation_p.A104V|ADRA1A_uc022atd.1_Missense_Mutation_p.A104V	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	104					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CACATCCACTGCCGCCCAGAT	0.632000													46	86					0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30261042	30261042	+	Missense_Mutation	SNP	G	G	A	rs148704670		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chrX:30261042G>A	uc004dcb.3	+	0	986	c.790G>A	c.(790-792)Gat>Aat	p.D264N	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	264	MAGE.							p.S263R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GCCCAACAGTGATCCCCCACG	0.502000													3	70					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9512205	9512205	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:9512205C>G	uc003brt.3	+	18	3222	c.2787C>G	c.(2785-2787)agC>agG	p.S929R	SETD5_uc003bru.3_Missense_Mutation_p.S831R|SETD5_uc003brv.3_Missense_Mutation_p.S818R|SETD5_uc010hck.3_Missense_Mutation_p.S411R|SETD5_uc003brx.3_Missense_Mutation_p.S598R	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	929										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACACTAACAGCTGTGCTGATA	0.493000													8	293					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45153738	45153738	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:45153738G>A	uc003com.3	-	2	627	c.492C>T	c.(490-492)agC>agT	p.S164S	CDCP1_uc003con.3_Silent_p.S164S	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	164						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CGATTCGGCCGCTGATGGAGT	0.562000													5	249					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93629413	93629413	+	Splice_Site	SNP	A	A	G			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr9:93629413A>G	uc004aqz.3	+	7	1052	c.847_splice	c.e7-1	p.T283_splice	SYK_uc004ara.3_Intron|SYK_uc004arb.3_Intron|SYK_uc004arc.3_Splice_Site_p.T283_splice|SYK_uc011ltt.2_Splice_Site|SYK_uc011ltr.2_Splice_Site|SYK_uc011lts.2_Splice_Site	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	283	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGGTTTCTAGACTTGGTCAGC	0.438000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								6	123					0	0	1	0	0
AMD1	262	broad.mit.edu	37	6	111210065	111210065	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr6:111210065G>T	uc003puk.1	+	2	525	c.203G>T	c.(202-204)aGt>aTt	p.S68I	AMD1_uc011eay.1_5'UTR|AMD1_uc003pul.1_Intron|AMD1_uc011eaz.1_Missense_Mutation_p.S39I|AMD1_uc011eba.1_Intron	NM_001634	NP_001028231	P17707	DCAM_HUMAN	Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	68		Cleavage (non-hydrolytic); by autolysis.			spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TGCAGTGAGAGTAGCATGTTT	0.383000													3	128					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411479	105411479	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:105411479G>A	uc010axc.1	-	6	10429	c.10309C>T	c.(10309-10311)Ccc>Tcc	p.P3437S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P3337S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3437						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACGCTGGGCAGAGACACC	0.622000													6	355					0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155628609	155628609	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:155628609G>A	uc003faq.3	+	5	990	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	GMPS_uc011bom.2_Missense_Mutation_p.V120M	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	219					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AACCTTCACCGTGCAGAACAG	0.393000			T	MLL	AML								3	124					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48917682	48917682	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr19:48917682G>C	uc002pjc.4	+	4	1341	c.1253G>C	c.(1252-1254)cGc>cCc	p.R418P		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	418						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTGTGGTCCCGCTATGGTCGC	0.627000													6	19					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67267884	67267884	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr11:67267884G>C	uc001olx.3	-	4	838	c.649C>G	c.(649-651)Cgg>Ggg	p.R217G	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Missense_Mutation_p.R217G|PITPNM1_uc001olz.3_Missense_Mutation_p.R217G	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	217					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	p.R217Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AGCATCACCCGACGCAGACCT	0.657000													65	112					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113644	94113644	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr11:94113644G>A	uc001pet.2	-	3	1115	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	315						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGCTGGACAGGAGGAGGACG	0.537000													3	169					0	0	1	0	0
YWHAE	7531	broad.mit.edu	37	17	1264494	1264494	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:1264494T>A	uc002fsj.3	-	3	622	c.470A>T	c.(469-471)gAt>gTt	p.D157V	YWHAE_uc002fsk.3_Missense_Mutation_p.D135V|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Intron	NM_006761	NP_006752	P62258	1433E_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.	157					G2/M transition of mitotic cell cycle|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CATTGCAATATCACTAGCAGC	0.463000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						10	256					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	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				35	72					0	0	1	0	0
METRN	79006	broad.mit.edu	37	16	767142	767142	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr16:767142G>A	uc002cjd.3	+	3	754	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	AL360260_uc010bra.2_5'Flank	NM_024042	NP_076947	Q9UJH8	METRN_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator (METRN), mRNA.	213										skin(1)	1		Hepatocellular(780;0.00335)				TGTGGTGGCCGCCCGTGTCCT	0.662000													3	33					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128466403	128466403	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr2:128466403G>C	uc002tpg.2	-	20	3828	c.3629C>G	c.(3628-3630)tCc>tGc	p.S1210C		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1210					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCTGGCTGGGGAATGACCGTC	0.557000													28	56					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046794	175046794	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:175046794G>A	uc001gkl.1	+	1	353	c.240G>A	c.(238-240)gaG>gaA	p.E80E	TNN_uc010pmx.1_Silent_p.E80E	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	80					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGCCAGGGAGGAACAGAACA	0.607000													3	72					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111474657	111474657	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:111474657delT	uc003vfy.3	-	26	3199	c.2930delA	c.(2929-2931)aagfs	p.K977fs	DOCK4_uc003vfw.3_Frame_Shift_Del_p.K382fs|DOCK4_uc003vfx.3_Frame_Shift_Del_p.K941fs	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	941					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TAGTTCTTCCTTTGTATTAAA	0.313													2	4	---	---	---	---					
MX2	4600	broad.mit.edu	37	21	42748992	42748992	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr21:42748992delG	uc002yzf.1	+	1	263	c.159delG	c.(157-159)gagfs	p.E53fs	MX2_uc011aer.1_Non-coding_Transcript	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	53					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGGGGGCAGAGAAGGACGCTG	0.512													85	157	---	---	---	---					
