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
COIL	8161	broad.mit.edu	37	17	55016500	55016500	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr17:55016500T>C	uc002iuu.3	-	6	1694	c.1663A>G	c.(1663-1665)Aaa>Gaa	p.K555E		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	555						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATCAACTCTTTCCAAAATACA	0.388													0	1	0	0	0	141	6
ZNF665	79788	broad.mit.edu	37	19	53668940	53668940	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr19:53668940C>T	uc010eqm.1	-	3	903	c.803G>A	c.(802-804)gGc>gAc	p.G268D		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAAGGCTTTGCCACACTCATT	0.393													0	1	0	0	0	248	5
BAMBI	25805	broad.mit.edu	37	10	28970195	28970195	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr10:28970195C>T	uc001iuj.1	+	1	488	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_012342	NP_036474	Q13145	BAMBI_HUMAN	Homo sapiens BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) (BAMBI), mRNA.	29					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGGTGAAATTCGATGCTACTG	0.433													0	1	0	0	0	83	3
CSMD2	114784	broad.mit.edu	37	1	34180219	34180219	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr1:34180219C>T	uc001bxm.1	-	20	3551	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H	CSMD2_uc001bxn.1_Missense_Mutation_p.R1085H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1085	CUB 7.					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)				GCTCCACAGGCGCCGTCTGCC	0.592													0	1	0	0	0	341	20
NHSL2	340527	broad.mit.edu	37	X	71360543	71360543	+	Missense_Mutation	SNP	G	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chrX:71360543G>T	uc011mqa.2	+	5	3145	c.3145G>T	c.(3145-3147)Ggc>Tgc	p.G1049C	NHSL2_uc004eak.1_Missense_Mutation_p.G683C|NHSL2_uc010nli.2_Missense_Mutation_p.G818C	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	1049										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCCCGCCACCGGCGATGACCT	0.562													1	1	1	0	1	72	3
CEP192	55125	broad.mit.edu	37	18	13100361	13100361	+	Missense_Mutation	SNP	T	G	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr18:13100361T>G	uc010xac.2	+	37	6801	c.6721T>G	c.(6721-6723)Ttg>Gtg	p.L2241V	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.L1766V|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.L663V|CEP192_uc002krx.3_Missense_Mutation_p.L245V|CEP192_uc002kry.3_Non-coding_Transcript	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1836										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTTAACTCGTTTGACCTCCAA	0.363													0	1	0	0	0	117	8
ENPEP	2028	broad.mit.edu	37	4	111398002	111398002	+	Silent	SNP	C	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr4:111398002C>T	uc003iab.4	+	0	774	c.432C>T	c.(430-432)ctC>ctT	p.L144L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	144					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCACCCGGCTCCCGGAGCTGA	0.622													0	1	0	0	0	202	19
ANK1	286	broad.mit.edu	37	8	41554019	41554019	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr8:41554019C>T	uc003xok.3	-	25	2906	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R257Q|ANK1_uc003xoi.3_Missense_Mutation_p.R941Q|ANK1_uc003xoj.3_Missense_Mutation_p.R941Q|ANK1_uc003xol.3_Missense_Mutation_p.R941Q|ANK1_uc003xom.3_Missense_Mutation_p.R982Q	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	941	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.P940Q(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCGCACGTCCGTGGCGGGAT	0.682													0	1	0	0	0	67	4
HLA-DRA	3122	broad.mit.edu	37	6	32411670	32411670	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr6:32411670C>T	uc003obh.3	+	3	857	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	HLA-DRA_uc003obi.3_Missense_Mutation_p.R225C	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	250					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TGCAGCAGAACGCAGGGGGCC	0.532									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				0	1	0	0	0	115	8
VPS13C	54832	broad.mit.edu	37	15	62305292	62305292	+	Silent	SNP	G	A	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr15:62305292G>A	uc002agz.3	-	10	862	c.771C>T	c.(769-771)gcC>gcT	p.A257A	VPS13C_uc002aha.3_Silent_p.A214A|VPS13C_uc002ahb.2_Silent_p.A257A|VPS13C_uc002ahc.2_Silent_p.A214A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	257					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATTCCAGTAGGCGCTAAGAC	0.348													0	1	0	0	0	100	9
FNIP2	57600	broad.mit.edu	37	4	159750278	159750278	+	Silent	SNP	A	G	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr4:159750278A>G	uc003iqe.4	+	2	465	c.282A>G	c.(280-282)ggA>ggG	p.G94G	FNIP2_uc003iqd.2_Silent_p.G94G	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	94					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)		GCTGCCAGGGAagcagcagtg	0.458													0	1	0	0	0	25	3
OR4X1	390113	broad.mit.edu	37	11	48285551	48285551	+	Missense_Mutation	SNP	A	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr11:48285551A>T	uc010rht.2	+	0	139	c.139A>T	c.(139-141)Atc>Ttc	p.I47F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGTGGTGACCATCCTGGCCAG	0.493													0	1	0	0	0	62	7
TTC30B	150737	broad.mit.edu	37	2	178416303	178416303	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr2:178416303C>T	uc002uln.3	-	0	1222	c.1189G>A	c.(1189-1191)Gta>Ata	p.V397I	TTC30B_uc010zfc.1_Missense_Mutation_p.V169I	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	397					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCTTCCTGTACTTGTATGGTA	0.448													0	1	0	0	0	330	6
ELOVL5	60481	broad.mit.edu	37	6	53139895	53139895	+	Silent	SNP	G	A	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr6:53139895G>A	uc011dwx.2	-	5	941	c.570C>T	c.(568-570)tgC>tgT	p.C190C	ELOVL5_uc003pbq.1_Silent_p.C163C|ELOVL5_uc003pbr.2_Silent_p.C163C|ELOVL5_uc003pbs.2_Silent_p.C163C	NM_001242828	NP_001229757	Q9NYP7	ELOV5_HUMAN	Homo sapiens ELOVL fatty acid elongase 5 (ELOVL5), transcript variant 2, mRNA.	163				YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035).	fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TACAGTGGCCGCAGGGGACCC	0.517													0	1	0	0	0	55	3
HOXA13	3209	broad.mit.edu	37	7	27237982	27237982	+	Silent	SNP	T	C	C	rs35608915	byFrequency	TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr7:27237982T>C	uc003szb.1	-	1	1031	c.1002A>G	c.(1000-1002)ttA>ttG	p.L334L	HOTTIP_uc022aau.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	Homo sapiens homeobox A13 (HOXA13), mRNA.	334					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CAAGTTCTTTTAATTGCACCT	0.507			T	NUP98	AML						OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	1	0	0	0	214	5
SPTBN4	57731	broad.mit.edu	37	19	41026051	41026051	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr19:41026051G>A	uc002ony.3	+	15	3733	c.3647G>A	c.(3646-3648)cGt>cAt	p.R1216H	SPTBN4_uc002onx.3_Missense_Mutation_p.R1216H|SPTBN4_uc002onz.3_Missense_Mutation_p.R1216H|SPTBN4_uc010egx.3_5'UTR	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1216					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGTGCTGCGTAACCAGGTG	0.672													0	1	0	0	0	20	3
MLIP	90523	broad.mit.edu	37	6	53989504	53989504	+	Silent	SNP	A	G	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr6:53989504A>G	uc011dxa.2	+	2	519	c.486A>G	c.(484-486)ccA>ccG	p.P162P	MLIP_uc003pcf.2_Silent_p.P151P|MLIP_uc003pcg.4_Silent_p.P151P|MLIP_uc003pch.4_Silent_p.P89P|MLIP_uc011dwz.1_Silent_p.P110P	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	151						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AAGGCCCCCCAGGGGGGATTG	0.537													0	1	0	0	0	155	6
STXBP5L	9515	broad.mit.edu	37	3	120628502	120628502	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr3:120628502G>A	uc003eec.4	+	1	217	c.77G>A	c.(76-78)aGt>aAt	p.S26N	STXBP5L_uc011bji.2_Missense_Mutation_p.S26N	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	26					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCAGTGGCAGTAACAGTGGT	0.478													0	1	0	0	0	66	3
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	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	102	6
COL24A1	255631	broad.mit.edu	37	1	86250007	86250007	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr1:86250007T>C	uc001dlj.3	-	48	4177	c.4102A>G	c.(4102-4104)Aga>Gga	p.R1368G	COL24A1_uc001dli.3_Missense_Mutation_p.R504G|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R668G|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1368	Collagen-like 16.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CGGTGACCTCTTTTACCTTGA	0.453													0	1	0	0	0	117	3
COIL	8161	broad.mit.edu	37	17	55016500	55016500	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr17:55016500T>C	uc002iuu.3	-	6	1694	c.1663A>G	c.(1663-1665)Aaa>Gaa	p.K555E		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	555						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATCAACTCTTTCCAAAATACA	0.388													0	1	0	0	0	141	6
ZNF665	79788	broad.mit.edu	37	19	53668940	53668940	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr19:53668940C>T	uc010eqm.1	-	3	903	c.803G>A	c.(802-804)gGc>gAc	p.G268D		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAAGGCTTTGCCACACTCATT	0.393													0	1	0	0	0	248	5
BAMBI	25805	broad.mit.edu	37	10	28970195	28970195	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr10:28970195C>T	uc001iuj.1	+	1	488	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_012342	NP_036474	Q13145	BAMBI_HUMAN	Homo sapiens BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) (BAMBI), mRNA.	29					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGGTGAAATTCGATGCTACTG	0.433													0	1	0	0	0	83	3
CSMD2	114784	broad.mit.edu	37	1	34180219	34180219	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr1:34180219C>T	uc001bxm.1	-	20	3551	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H	CSMD2_uc001bxn.1_Missense_Mutation_p.R1085H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1085	CUB 7.					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)				GCTCCACAGGCGCCGTCTGCC	0.592													0	1	0	0	0	341	20
ANK1	286	broad.mit.edu	37	8	41554019	41554019	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr8:41554019C>T	uc003xok.3	-	25	2906	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R257Q|ANK1_uc003xoi.3_Missense_Mutation_p.R941Q|ANK1_uc003xoj.3_Missense_Mutation_p.R941Q|ANK1_uc003xol.3_Missense_Mutation_p.R941Q|ANK1_uc003xom.3_Missense_Mutation_p.R982Q	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	941	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.P940Q(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCGCACGTCCGTGGCGGGAT	0.682													0	1	0	0	0	67	4
NHSL2	340527	broad.mit.edu	37	X	71360543	71360543	+	Missense_Mutation	SNP	G	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chrX:71360543G>T	uc011mqa.2	+	5	3145	c.3145G>T	c.(3145-3147)Ggc>Tgc	p.G1049C	NHSL2_uc004eak.1_Missense_Mutation_p.G683C|NHSL2_uc010nli.2_Missense_Mutation_p.G818C	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	1049										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCCCGCCACCGGCGATGACCT	0.562													1	1	1	0	1	72	3
CEP192	55125	broad.mit.edu	37	18	13100361	13100361	+	Missense_Mutation	SNP	T	G	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr18:13100361T>G	uc010xac.2	+	37	6801	c.6721T>G	c.(6721-6723)Ttg>Gtg	p.L2241V	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.L1766V|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.L663V|CEP192_uc002krx.3_Missense_Mutation_p.L245V|CEP192_uc002kry.3_Non-coding_Transcript	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1836										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTTAACTCGTTTGACCTCCAA	0.363													0	1	0	0	0	117	8
ENPEP	2028	broad.mit.edu	37	4	111398002	111398002	+	Silent	SNP	C	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr4:111398002C>T	uc003iab.4	+	0	774	c.432C>T	c.(430-432)ctC>ctT	p.L144L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	144					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCACCCGGCTCCCGGAGCTGA	0.622													0	1	0	0	0	202	19
HLA-DRA	3122	broad.mit.edu	37	6	32411670	32411670	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr6:32411670C>T	uc003obh.3	+	3	857	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	HLA-DRA_uc003obi.3_Missense_Mutation_p.R225C	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	250					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TGCAGCAGAACGCAGGGGGCC	0.532									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				0	1	0	0	0	115	8
VPS13C	54832	broad.mit.edu	37	15	62305292	62305292	+	Silent	SNP	G	A	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr15:62305292G>A	uc002agz.3	-	10	862	c.771C>T	c.(769-771)gcC>gcT	p.A257A	VPS13C_uc002aha.3_Silent_p.A214A|VPS13C_uc002ahb.2_Silent_p.A257A|VPS13C_uc002ahc.2_Silent_p.A214A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	257					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATTCCAGTAGGCGCTAAGAC	0.348													0	1	0	0	0	100	9
FNIP2	57600	broad.mit.edu	37	4	159750278	159750278	+	Silent	SNP	A	G	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr4:159750278A>G	uc003iqe.4	+	2	465	c.282A>G	c.(280-282)ggA>ggG	p.G94G	FNIP2_uc003iqd.2_Silent_p.G94G	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	94					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)		GCTGCCAGGGAagcagcagtg	0.458													0	1	0	0	0	25	3
OR4X1	390113	broad.mit.edu	37	11	48285551	48285551	+	Missense_Mutation	SNP	A	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr11:48285551A>T	uc010rht.2	+	0	139	c.139A>T	c.(139-141)Atc>Ttc	p.I47F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGTGGTGACCATCCTGGCCAG	0.493													0	1	0	0	0	62	7
TTC30B	150737	broad.mit.edu	37	2	178416303	178416303	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr2:178416303C>T	uc002uln.3	-	0	1222	c.1189G>A	c.(1189-1191)Gta>Ata	p.V397I	TTC30B_uc010zfc.1_Missense_Mutation_p.V169I	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	397					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCTTCCTGTACTTGTATGGTA	0.448													0	1	0	0	0	330	6
ELOVL5	60481	broad.mit.edu	37	6	53139895	53139895	+	Silent	SNP	G	A	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr6:53139895G>A	uc011dwx.2	-	5	941	c.570C>T	c.(568-570)tgC>tgT	p.C190C	ELOVL5_uc003pbq.1_Silent_p.C163C|ELOVL5_uc003pbr.2_Silent_p.C163C|ELOVL5_uc003pbs.2_Silent_p.C163C	NM_001242828	NP_001229757	Q9NYP7	ELOV5_HUMAN	Homo sapiens ELOVL fatty acid elongase 5 (ELOVL5), transcript variant 2, mRNA.	163				YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035).	fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TACAGTGGCCGCAGGGGACCC	0.517													0	1	0	0	0	55	3
SPTBN4	57731	broad.mit.edu	37	19	41026051	41026051	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr19:41026051G>A	uc002ony.3	+	15	3733	c.3647G>A	c.(3646-3648)cGt>cAt	p.R1216H	SPTBN4_uc002onx.3_Missense_Mutation_p.R1216H|SPTBN4_uc002onz.3_Missense_Mutation_p.R1216H|SPTBN4_uc010egx.3_5'UTR	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1216					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGTGCTGCGTAACCAGGTG	0.672													0	1	0	0	0	20	3
MLIP	90523	broad.mit.edu	37	6	53989504	53989504	+	Silent	SNP	A	G	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr6:53989504A>G	uc011dxa.2	+	2	519	c.486A>G	c.(484-486)ccA>ccG	p.P162P	MLIP_uc003pcf.2_Silent_p.P151P|MLIP_uc003pcg.4_Silent_p.P151P|MLIP_uc003pch.4_Silent_p.P89P|MLIP_uc011dwz.1_Silent_p.P110P	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	151						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AAGGCCCCCCAGGGGGGATTG	0.537													0	1	0	0	0	155	6
STXBP5L	9515	broad.mit.edu	37	3	120628502	120628502	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr3:120628502G>A	uc003eec.4	+	1	217	c.77G>A	c.(76-78)aGt>aAt	p.S26N	STXBP5L_uc011bji.2_Missense_Mutation_p.S26N	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	26					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCAGTGGCAGTAACAGTGGT	0.478													0	1	0	0	0	66	3
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	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	102	6
COL24A1	255631	broad.mit.edu	37	1	86250007	86250007	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr1:86250007T>C	uc001dlj.3	-	48	4177	c.4102A>G	c.(4102-4104)Aga>Gga	p.R1368G	COL24A1_uc001dli.3_Missense_Mutation_p.R504G|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R668G|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1368	Collagen-like 16.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CGGTGACCTCTTTTACCTTGA	0.453													0	1	0	0	0	117	3
