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
GUK1	2987	broad.mit.edu	37	1	228335126	228335126	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:228335126G>A	uc021pkf.1	+	4	409	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	GUK1_uc021pke.1_Missense_Mutation_p.V91M|GUK1_uc001hsj.3_Missense_Mutation_p.V31M|GUK1_uc001hsh.3_Missense_Mutation_p.V91M|GUK1_uc001hsi.3_Missense_Mutation_p.V112M|GUK1_uc010pvv.2_Missense_Mutation_p.V91M|GJC2_uc001hsk.3_5'Flank	NM_001242840	NP_001229769	Q16774	KGUA_HUMAN	Homo sapiens guanylate kinase 1 (GUK1), transcript variant 5, mRNA.	91	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				GGTGCAGGCCGTGCAGGCCAT	0.657													0	1	0	0	0	157	4
TPPP3	51673	broad.mit.edu	37	16	67424874	67424874	+	Silent	SNP	T	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr16:67424874T>A	uc002etb.3	-	1	286	c.141A>T	c.(139-141)ggA>ggT	p.G47G	TPPP3_uc002esz.3_Silent_p.G47G|TPPP3_uc002eta.3_Silent_p.G47G|U1_uc021tkb.1_5'Flank	NM_015964	NP_057224	Q9BW30	TPPP3_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA.	47					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TCACGGACTTTCCGTCAGCCA	0.572													0	1	0	0	0	76	23
SCN1B	6324	broad.mit.edu	37	19	35523482	35523482	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:35523482G>A	uc002nxo.2	+	1	224	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	SCN1B_uc002nxp.3_Missense_Mutation_p.V31M|SCN1B_uc010xsg.2_Missense_Mutation_p.V31M	NM_199037	NP_950238	Q07699	SCN1B_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA.	31	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GACCGAGGCCGTGTATGGGAT	0.622													0	1	0	0	0	201	4
CHAF1A	10036	broad.mit.edu	37	19	4433112	4433112	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:4433112G>A	uc002mal.3	+	12	2349	c.2249G>A	c.(2248-2250)aGc>aAc	p.S750N		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	750	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAACGGGAGCAAGGTCATC	0.667								Chromatin Structure					0	1	0	0	0	40	3
SUPT6H	6830	broad.mit.edu	37	17	27020729	27020729	+	Missense_Mutation	SNP	G	C	C			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr17:27020729G>C	uc010crt.3	+	28	3841	c.3649G>C	c.(3649-3651)Gac>Cac	p.D1217H	SUPT6H_uc002hby.3_Missense_Mutation_p.D1217H	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1217	S1 motif.				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)					GAACCACTTTGACAGCGGTTC	0.502													0	1	0	0	0	78	25
PPP1R13L	10848	broad.mit.edu	37	19	45901354	45901354	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:45901354G>A	uc002pbn.3	-	2	184	c.107C>T	c.(106-108)gCg>gTg	p.A36V	PPP1R13L_uc002pbo.3_Missense_Mutation_p.A36V|PPP1R13L_uc002pbp.2_Missense_Mutation_p.A36V	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	36					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACCTTGGCCGCCGCCGTGTC	0.652													0	1	0	0	0	117	3
FAM40B	57464	broad.mit.edu	37	7	129102860	129102860	+	Silent	SNP	G	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr7:129102860G>A	uc011koy.2	+	13	1570	c.1530G>A	c.(1528-1530)ctG>ctA	p.L510L	FAM40B_uc003vow.3_Silent_p.L510L|FAM40B_uc011koz.2_Silent_p.L2L	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	510										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGGAATGCTGTACAGCCTTC	0.507													0	1	0	0	0	83	4
SYTL4	94121	broad.mit.edu	37	X	99955909	99955909	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chrX:99955909G>A	uc004egd.4	-	6	879	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	SYTL4_uc010nnc.3_Missense_Mutation_p.R175W|SYTL4_uc004ege.4_Missense_Mutation_p.R175W|SYTL4_uc004egf.4_Missense_Mutation_p.R175W|SYTL4_uc004egg.4_Missense_Mutation_p.R175W	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	175					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCTTCTGCCGCTCCTGAATG	0.388													0	1	0	0	0	206	17
ATP6V1A	523	broad.mit.edu	37	3	113505224	113505224	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr3:113505224T>C	uc003eao.3	+	5	818	c.710T>C	c.(709-711)cTt>cCt	p.L237P	ATP6V1A_uc011bik.2_Missense_Mutation_p.L204P	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	237					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGATGCCCTTTTTCCGTAA	0.423													0	1	0	0	0	263	3
KDM8	79831	broad.mit.edu	37	16	27230341	27230341	+	Silent	SNP	G	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr16:27230341G>A	uc010vcn.1	+	5	1135	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	KDM8_uc002doh.2_Silent_p.E301E|KDM8_uc010bxw.2_Intron|KDM8_uc010bxx.2_Non-coding_Transcript	NM_001145348	NP_079049	Q8N371	KDM8_HUMAN	Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.	301	JmjC.				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										GCGATGGGGAGGAGGAGGAAA	0.582													0	1	0	0	0	139	4
MAP3K13	9175	broad.mit.edu	37	3	185146741	185146741	+	Silent	SNP	C	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr3:185146741C>A	uc010hyf.3	+	2	663	c.372C>A	c.(370-372)ggC>ggA	p.G124G	MAP3K13_uc011brt.2_Intron|MAP3K13_uc003fph.4_Intron|MAP3K13_uc011bru.2_Intron|MAP3K13_uc003fpi.3_Silent_p.G124G|MAP3K13_uc010hyg.3_5'UTR	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	124					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GCAGGTCAGGCAGTGGCAGTG	0.488													1	1	1	0	1	102	3
CSF3R	1441	broad.mit.edu	37	1	36941036	36941036	+	Silent	SNP	G	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:36941036G>A	uc001caw.2	-	3	887	c.303C>T	c.(301-303)tgC>tgT	p.C101C	CSF3R_uc001cav.2_Silent_p.C101C|CSF3R_uc001cax.2_Silent_p.C101C	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	101	Ig-like C2-type.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGTTCAGGCAGCAGGAGAGAA	0.607													0	1	0	0	0	153	4
PROM2	150696	broad.mit.edu	37	2	95947921	95947921	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr2:95947921G>A	uc002suk.3	+	13	1808	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	PROM2_uc002suh.2_Missense_Mutation_p.V559I|PROM2_uc002sui.3_Missense_Mutation_p.V559I|PROM2_uc002suj.3_Missense_Mutation_p.V213I|PROM2_uc002sul.3_Missense_Mutation_p.V85I|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	559						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTCTGGACAGTCCTGCAGCT	0.617													0	1	0	0	0	51	3
RNF146	81847	broad.mit.edu	37	6	127608035	127608036	+	Missense_Mutation	DNP	GA	CT	CT			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr6:127608035_127608036GA>CT	uc021zes.1	+	2	413_414	c.277_278GA>CT	c.(277-279)gaa>CTa	p.E93L	RNF146_uc021zet.1_Missense_Mutation_p.E92L|RNF146_uc021zeu.1_Missense_Mutation_p.E92L|RNF146_uc021zev.1_Missense_Mutation_p.E92L|RNF146_uc021zew.1_Missense_Mutation_p.E93L|RNF146_uc003qat.3_Missense_Mutation_p.E92L|RNF146_uc021zex.1_Missense_Mutation_p.E92L|RNF146_uc003qaw.3_Missense_Mutation_p.E92L|RNF146_uc003qau.3_Missense_Mutation_p.E92L|RNF146_uc003qav.3_Missense_Mutation_p.E93L|RNF146_uc021zey.1_Missense_Mutation_p.E92L	NM_001242851	NP_001229780	Q9NTX7	RN146_HUMAN	Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.	93	WWE.				Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GTCACCAGAAGAACTCAAGGCA	0.460													0	1	0	0	0	33	26
ACE	1636	broad.mit.edu	37	17	61566087	61566087	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr17:61566087G>A	uc002jau.2	+	15	2418	c.2384G>A	c.(2383-2385)gGg>gAg	p.G795E	ACE_uc010wpj.2_Missense_Mutation_p.G221E|ACE_uc010ddv.2_Missense_Mutation_p.G22E|ACE_uc002jav.2_Missense_Mutation_p.G221E|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.G105E	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	795	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GACAAGGCGGGGAGAGCCATC	0.557													0	1	0	0	0	148	3
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	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	72	45
CD163	9332	broad.mit.edu	37	12	7649609	7649609	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr12:7649609G>A	uc001qsz.3	-	4	1027	c.899C>T	c.(898-900)gCt>gTt	p.A300V	CD163_uc001qta.3_Missense_Mutation_p.A300V|CD163_uc009zfw.2_Missense_Mutation_p.A300V	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	300	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.D299H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGCCACAGCAGCATCGTAACT	0.498													0	1	0	0	0	129	3
PCDHAC2	56134	broad.mit.edu	37	5	140167696	140167696	+	Silent	SNP	G	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr5:140167696G>A	uc003lhb.2	+	0	1821	c.1821G>A	c.(1819-1821)ctG>ctA	p.L607L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.L607L	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	620	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGTGGCTGTCCTATGAAC	0.672													0	1	0	0	0	199	4
SCAMP2	10066	broad.mit.edu	37	15	75137837	75137837	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr15:75137837G>A	uc002azb.1	-	7	906	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	ULK3_uc010ulp.1_5'Flank|ULK3_uc010ulq.1_5'Flank|ULK3_uc010ulr.1_5'Flank|ULK3_uc010bkf.1_5'Flank|ULK3_uc002ayv.2_5'Flank|ULK3_uc010uls.1_5'Flank|ULK3_uc010ult.1_5'Flank|ULK3_uc010ulu.1_5'Flank|SCAMP2_uc002aza.1_Missense_Mutation_p.L128F	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	278					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AAGACTGAGAGCACGGCACAG	0.562													0	1	0	0	0	283	4
BAG2	9532	broad.mit.edu	37	6	57037528	57037528	+	Missense_Mutation	SNP	C	G	G			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr6:57037528C>G	uc003pdr.3	+	0	425	c.33C>G	c.(31-33)aaC>aaG	p.N11K	BC032020_uc003pdq.1_5'Flank|BAG2_uc011dxo.2_5'Flank	NM_004282	NP_004273	O95816	BAG2_HUMAN	Homo sapiens BCL2-associated athanogene 2 (BAG2), mRNA.	11					apoptosis|protein folding		protein binding			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTAAAGCCAACGAGGGGCGCT	0.687													0	1	0	0	0	5	6
SGSM3	27352	broad.mit.edu	37	22	40805710	40805710	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr22:40805710G>A	uc003ayu.1	+	21	2406	c.2197G>A	c.(2197-2199)Gtc>Atc	p.V733I	SGSM3_uc011aot.1_Missense_Mutation_p.V644I	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	733					Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GAAGGAGGGCGTCCGGGACAT	0.662													0	1	0	0	0	169	4
ARHGEF10L	55160	broad.mit.edu	37	1	18014116	18014116	+	Missense_Mutation	SNP	G	T	T			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:18014116G>T	uc001ban.3	+	26	3217	c.3058G>T	c.(3058-3060)Gtg>Ttg	p.V1020L	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.V981L|ARHGEF10L_uc001bao.3_Missense_Mutation_p.V981L|ARHGEF10L_uc001bap.3_Missense_Mutation_p.V976L|ARHGEF10L_uc001baq.3_Missense_Mutation_p.V781L|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.V793L|ARHGEF10L_uc001bar.3_Missense_Mutation_p.V723L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1020					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GACACACATGGTGAAGGCGGG	0.622													8.55E-33	1	7.94E-33	0	1	39	38
VPS33B	26276	broad.mit.edu	37	15	91565471	91565471	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr15:91565471delA	uc002bqp.1	-	0	363	c.9delT	c.(7-9)tttfs	p.F3fs	VPS33B_uc002bqq.1_5'UTR|VPS33B_uc010uqu.1_Frame_Shift_Del_p.F3fs|AK055351_uc002bqr.2_5'Flank	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog B (yeast) (VPS33B), mRNA.	3					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCCGATGGGGAAAAGCCATGG	0.652																		4	2
