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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
MBLAC1	255374	broad.mit.edu	37	7	99725100	99725100	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr7:99725100T>C	uc003utp.3	+	1	478	c.82T>C	c.(82-84)Tac>Cac	p.Y28H	MBLAC1_uc022aig.1_Missense_Mutation_p.Y28H	NM_203397	NP_981942	A4D2B0	MBLC1_HUMAN	Homo sapiens metallo-beta-lactamase domain containing 1 (MBLAC1), mRNA.	28							hydrolase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						GCTGCAGGGCTACGCGGAGCC	0.726													0	1	0	0	0	9	3
DPF3	8110	broad.mit.edu	37	14	73220067	73220067	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:73220067C>T	uc001xnc.2	-	2	219	c.206G>A	c.(205-207)gGc>gAc	p.G69D	DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.G69D|DPF3_uc010ttq.1_Missense_Mutation_p.G79D	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	69					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ATACAGCTGGCCCGGGGCAAG	0.542													0	1	0	0	0	21	3
RAB27A	5873	broad.mit.edu	37	15	55497815	55497815	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr15:55497815C>A	uc002aco.3	-	6	787	c.556G>T	c.(556-558)Gaa>Taa	p.E186*	RAB27A_uc002acr.3_Nonsense_Mutation_p.E186*|RAB27A_uc002acp.3_Nonsense_Mutation_p.E186*|RAB27A_uc002acq.3_Nonsense_Mutation_p.E186*	NM_183234	NP_899059	P51159	RB27A_HUMAN	Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 2, mRNA.	186					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		ACACACCGTTCCATTCGCTTC	0.468													3.87E-27	1	3.37E-27	0	1	83	62
OBSCN	84033	broad.mit.edu	37	1	228506696	228506696	+	Missense_Mutation	SNP	G	T	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr1:228506696G>T	uc009xez.1	+	53	14287	c.14243G>T	c.(14242-14244)cGc>cTc	p.R4748L	OBSCN_uc001hsn.3_Missense_Mutation_p.R4748L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4748					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)				CGGAAACGTCGCATGAGCCGT	0.682													1.32E-05	1	1.24E-05	0	1	1	5
TRHDE	29953	broad.mit.edu	37	12	72956810	72956810	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr12:72956810C>T	uc001sxa.3	+	8	1927	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	633					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTTAAACTTCAGAATAACAG	0.274													0	1	0	0	0	58	33
MPI	4351	broad.mit.edu	37	15	75182420	75182420	+	Silent	SNP	C	T	T	rs149477499		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr15:75182420C>T	uc002azc.1	+	0	11	c.6C>T	c.(4-6)gcC>gcT	p.A2A	MPI_uc010ulv.2_Silent_p.A2A|MPI_uc010ulw.2_5'UTR|MPI_uc002azd.1_Silent_p.A2A|MPI_uc010ulx.1_5'UTR|MPI_uc002aze.1_Silent_p.A2A	NM_002435	NP_002426	P34949	MPI_HUMAN	Homo sapiens mannose phosphate isomerase (MPI), mRNA.	2					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CGAGCATGGCCGCTCCGCGAG	0.662													0	1	0	0	0	23	15
C2CD3	26005	broad.mit.edu	37	11	73834059	73834059	+	Missense_Mutation	SNP	G	C	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr11:73834059G>C	uc001ouu.2	-	7	1566	c.1339C>G	c.(1339-1341)Ctg>Gtg	p.L447V	C2CD3_uc001ouv.2_Missense_Mutation_p.L447V	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	447						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AAATTCTCCAGAAGACTCTGG	0.428													0	1	0	0	0	30	25
PLA2G2A	5320	broad.mit.edu	37	1	20302255	20302255	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr1:20302255T>C	uc001bcu.3	-	4	592	c.374A>G	c.(373-375)tAc>tGc	p.Y125C	PLA2G2A_uc001bcv.3_Missense_Mutation_p.Y125C|PLA2G2A_uc010oda.2_Missense_Mutation_p.Y125C|PLA2G2A_uc010odb.2_Missense_Mutation_p.Y125C	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN	Homo sapiens phospholipase A2, group IIA (platelets, synovial fluid) (PLA2G2A), transcript variant 4, mRNA.	125					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	p.Y125N(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTTTATTGTAGGTCGTCTT	0.458													0	1	0	0	0	42	41
ZFX	7543	broad.mit.edu	37	X	24226355	24226355	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chrX:24226355G>A	uc011mjv.2	+	7	1327	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	ZFX_uc004dbd.2_Missense_Mutation_p.E321K|ZFX_uc004dbf.3_Missense_Mutation_p.E321K|ZFX_uc004dbe.3_Missense_Mutation_p.E321K|ZFX_uc022bua.1_Missense_Mutation_p.E321K|ZFX_uc010nfx.2_Missense_Mutation_p.E92K|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.3_Missense_Mutation_p.E24K	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AATCGCTGACGAAGTTTATAT	0.438													0	1	0	0	0	30	27
ZFYVE1	53349	broad.mit.edu	37	14	73491207	73491207	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:73491207G>A	uc001xnm.3	-	1	731	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	ZFYVE1_uc010arj.3_Nonsense_Mutation_p.Q4*	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	4						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGGGAAGTCTGGGCACTCATA	0.527													0	1	0	0	0	33	5
HCFC1	3054	broad.mit.edu	37	X	153229727	153229727	+	Silent	SNP	C	T	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chrX:153229727C>T	uc004fjp.3	-	2	879	c.351G>A	c.(349-351)cgG>cgA	p.R117R		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	117					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTCCCACCGGCTCGCCT	0.597													0	1	0	0	0	117	6
ERBB4	2066	broad.mit.edu	37	2	212251745	212251745	+	Missense_Mutation	SNP	G	C	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr2:212251745G>C	uc002veg.1	-	26	3412	c.3314C>G	c.(3313-3315)tCc>tGc	p.S1105C	ERBB4_uc002veh.1_Missense_Mutation_p.S1089C|ERBB4_uc010zji.1_Missense_Mutation_p.S1095C|ERBB4_uc010zjj.1_Missense_Mutation_p.S1079C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1105					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.D1104Y(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATTACAGCAGGAGTCATCAAA	0.557										TSP Lung(8;0.080)			0	1	0	0	0	54	37
FTHL17	53940	broad.mit.edu	37	X	31089693	31089693	+	Silent	SNP	G	A	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chrX:31089693G>A	uc004dcl.1	-	0	478	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	126	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GCTGGGGGTCGCCCTTCTCCA	0.607													0	1	0	0	0	40	27
PDIA5	10954	broad.mit.edu	37	3	122808075	122808075	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr3:122808075G>A	uc003egc.2	+	1	259	c.103G>A	c.(103-105)Gac>Aac	p.D35N	PDIA5_uc003egd.2_Non-coding_Transcript	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.	35					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GAGAATCTCTGACCCCAAGGA	0.512													0	1	0	0	0	54	36
AKT1	207	broad.mit.edu	37	14	105242025	105242025	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:105242025C>G	uc001ypk.3	-	4	953	c.399G>C	c.(397-399)gaG>gaC	p.E133D	AKT1_uc001ypl.3_Missense_Mutation_p.E133D|AKT1_uc010axa.3_Missense_Mutation_p.E133D|AKT1_uc001ypm.3_Missense_Mutation_p.E133D|AKT1_uc001ypn.3_Missense_Mutation_p.E133D|AKT1_uc010tyk.2_Missense_Mutation_p.E71D	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	133					G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	ACACCTCCATCTCTTCAGCCC	0.647		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								0	1	0	0	0	24	22
APPL1	26060	broad.mit.edu	37	3	57282228	57282228	+	Missense_Mutation	SNP	A	G	G			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr3:57282228A>G	uc003dio.3	+	9	859	c.712A>G	c.(712-714)Agg>Ggg	p.R238G	APPL1_uc010hnb.3_Missense_Mutation_p.R238G|APPL1_uc011bey.1_Missense_Mutation_p.R221G	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	238	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	p.R237C(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CAGTGTTCGCAGGGAAATGGA	0.408													0	1	0	0	0	67	6
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	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	0.368	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				0	1	0	0	0	31	30
HSH2D	84941	broad.mit.edu	37	19	16268601	16268601	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:16268601G>A	uc002ndp.4	+	8	1586	c.1055G>A	c.(1054-1056)tGc>tAc	p.C352Y	HSH2D_uc002ndr.3_3'UTR|HSH2D_uc010ead.3_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA.	352						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCTGGGTACTGCTAGAGAACA	0.612													0	1	0	0	0	4	7
ARID3A	1820	broad.mit.edu	37	19	929821	929821	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:929821C>T	uc002lql.3	+	1	583	c.293C>T	c.(292-294)aCa>aTa	p.T98I		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	98	Glu-rich.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGAGGGGACACCGGGCTCA	0.721													0	1	0	0	0	0	2
RAD23B	5887	broad.mit.edu	37	9	110074019	110074019	+	Splice_Site	SNP	G	T	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr9:110074019G>T	uc004bde.3	+	5	947	c.553_splice	c.e5+1	p.V185_splice	RAD23B_uc011lwa.2_Splice_Site_p.V185_splice|RAD23B_uc022blj.1_Splice_Site_p.V113_splice|RAD23B_uc011lwb.2_Splice_Site_p.V164_splice	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	185					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGTGCACTTGGTAAGTATCTG	0.308								Direct reversal of damage;Nucleotide excision repair (NER)					3.69E-07	1	3.33E-07	0	1	19	15
HCP5	10866	broad.mit.edu	37	6	31431643	31431643	+	RNA	SNP	C	T	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr6:31431643C>T	uc003ntl.3	+	1		c.596C>T			HCP5_uc021yup.1_Non-coding_Transcript			Q6MZN7	HCP5_HUMAN	Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA.						defense response					urinary_tract(1)	1						gggttccacacgaactcctcc	0.572													0	1	0	0	0	103	7
MLYCD	23417	broad.mit.edu	37	16	83948837	83948837	+	Missense_Mutation	SNP	G	C	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr16:83948837G>C	uc002fgz.3	+	4	1245	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	409					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCTGTATGGAGAGAAGCACCG	0.647													0	1	0	0	0	44	45
CHD6	84181	broad.mit.edu	37	20	40033972	40033972	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr20:40033972T>C	uc002xka.1	-	36	7587	c.7409A>G	c.(7408-7410)aAt>aGt	p.N2470S	CHD6_uc002xjz.1_Missense_Mutation_p.N7S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2470					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AATCAGTCCATTCATGAACAG	0.607													0	1	0	0	0	28	29
OR6C75	390323	broad.mit.edu	37	12	55759422	55759422	+	Silent	SNP	C	T	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr12:55759422C>T	uc010spk.2	+	0	528	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ATCATTTTATCTGTGACTCTT	0.428													0	1	0	0	0	35	22
SHANK1	50944	broad.mit.edu	37	19	51207039	51207039	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:51207039delG	uc002psx.1	-	9	1290	c.1271delC	c.(1270-1272)ccafs	p.P424fs		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	424					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.P424fs*5(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCTGTGCCTGGGGGCCCCCG	0.721																		4	2
