Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SPINK5	11005	broad.mit.edu	37	5	147480098	147480098	+	Missense_Mutation	SNP	G	C	C			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:147480098G>C	uc003lox.2	+	12	1247	c.1174G>C	c.(1174-1176)Gat>Cat	p.D392H	SPINK5_uc010jgs.1_Missense_Mutation_p.D364H|SPINK5_uc010jgr.2_Missense_Mutation_p.D373H|SPINK5_uc003low.2_Missense_Mutation_p.D392H|SPINK5_uc003loy.2_Missense_Mutation_p.D392H	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	392	Kazal-like 6.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGGCCCAGATGGGAAAGT	0.483000														52			7		0	0	1	0	0
SLC35B1	10237	broad.mit.edu	37	17	47783622	47783622	+	Missense_Mutation	SNP	G	C	C			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr17:47783622G>C	uc002iph.1	-	2	370	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V	SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Missense_Mutation_p.L95V	NM_005827	NP_005818	P78383	S35B1_HUMAN	Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA.	95						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						ATGGCACCCAGATAGGAGATA	0.473000														23			6		0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63401895	63401895	+	Missense_Mutation	SNP	C	G	G			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:63401895C>G	uc002sch.3	-	14	2450	c.1988G>C	c.(1987-1989)gGa>gCa	p.G663A	WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Missense_Mutation_p.G504A|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Missense_Mutation_p.G471A	NM_015910	NP_056994	O95876	FRITZ_HUMAN	Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA.	663					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TGAGTCTTCTCCTTGAGGTGC	0.418000														72			8		0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104596873	104596873	+	Silent	SNP	G	T	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr10:104596873G>T	uc001kwg.3	-	0	418	c.246C>A	c.(244-246)gcC>gcA	p.A82A		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	82					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GCACCTCCTTGGCCAGCTGGT	0.532000														59			23		2.89027e-11	3.44079e-11	1	1	0
ABR	29	broad.mit.edu	37	17	914042	914042	+	Silent	SNP	G	C	C			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr17:914042G>C	uc002fsd.3	-	19	2273	c.2163C>G	c.(2161-2163)ctC>ctG	p.L721L	ABR_uc002fse.3_Silent_p.L675L|ABR_uc010vqf.2_Silent_p.L172L|ABR_uc010vqg.2_Silent_p.L503L|ABR_uc002fsg.3_Silent_p.L684L|ABR_uc002fsh.1_Silent_p.L329L|ABR_uc002fsf.3_Silent_p.L258L	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	721	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		AGTACAGCTTGAGCGTCCCGG	0.627000														87			9		0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134518626	134518626	+	Splice_Site	SNP	C	T	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr9:134518626C>T	uc022bos.1	-	4	656	c.497_splice	c.e4+1	p.S166_splice	RAPGEF1_uc022bot.1_Splice_Site_p.S148_splice|RAPGEF1_uc022bou.1_Splice_Site_p.S153_splice|RAPGEF1_uc022bov.1_Splice_Site_p.S153_splice	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	148					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AGCCACTCACCTGTGCTGAAT	0.507000														9			5		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76781017	76781017	+	Missense_Mutation	SNP	G	C	C			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr10:76781017G>C	uc001jwn.1	+	14	3488	c.2995G>C	c.(2995-2997)Gaa>Caa	p.E999Q	KAT6B_uc001jwm.1_Missense_Mutation_p.E707Q|KAT6B_uc001jwo.1_Missense_Mutation_p.E707Q|KAT6B_uc001jwp.1_Missense_Mutation_p.E816Q	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	999	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TGCAGTGTCTGAAGAAGAGCG	0.398000														67			5		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71490881	71490881	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:71490881G>A	uc003kbw.4	+	4	1940	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	MAP1B_uc010iyw.1_Missense_Mutation_p.E584K|MAP1B_uc010iyx.1_Missense_Mutation_p.E441K|MAP1B_uc010iyy.1_Missense_Mutation_p.E441K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	567						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGAAACCCCTGAGGTCACAAA	0.443000														29			3		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157874039	157874039	+	Silent	SNP	C	T	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr7:157874039C>T	uc003wno.3	-	10	1795	c.1674G>A	c.(1672-1674)gtG>gtA	p.V558V	PTPRN2_uc003wnp.3_Silent_p.V541V|PTPRN2_uc003wnq.3_Silent_p.V529V|PTPRN2_uc003wnr.3_Silent_p.V520V|PTPRN2_uc011kwa.2_Silent_p.V581V	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	558						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V558M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CATTGGCGCTCACTTTGAAGG	0.498000														54			4		0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32274215	32274215	+	Silent	SNP	A	G	G			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:32274215A>G	uc003jhq.3	-	2	326	c.156T>C	c.(154-156)ctT>ctC	p.L52L	MTMR12_uc010iuk.3_Silent_p.L52L|MTMR12_uc010iul.3_Silent_p.L52L	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	52						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGCTTCACAAAGCAGCTGTT	0.468000														62			27		0	0	1	0	0
ASPDH	554235	broad.mit.edu	37	19	51015780	51015780	+	Missense_Mutation	SNP	C	T	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr19:51015780C>T	uc010enz.3	-	4	552	c.490G>A	c.(490-492)Gct>Act	p.A164T	JOSD2_uc002psn.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.4_Missense_Mutation_p.A59T	NM_001114598	NP_001108070	A6ND91	ASPD_HUMAN	Homo sapiens aspartate dehydrogenase domain containing (ASPDH), transcript variant 1, mRNA.	164					NAD biosynthetic process|NADP catabolic process		NADP binding|aspartate dehydrogenase activity			endometrium(1)|large_intestine(1)|lung(1)	3						TGGGCTGCAGCCAGGGGTCCC	0.657000														12			3		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197391022	197391022	+	Missense_Mutation	SNP	C	G	G			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr1:197391022C>G	uc001gtz.3	+	5	2273	c.2064C>G	c.(2062-2064)atC>atG	p.I688M	CRB1_uc010poz.2_Missense_Mutation_p.I619M|CRB1_uc009wza.3_Missense_Mutation_p.I576M|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.I688M|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.I169M|CRB1_uc001gub.1_Missense_Mutation_p.I337M	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	688	EGF-like 12.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GACGCTGCATCAACTTGTGGC	0.512000														60			9		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117314617	117314617	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr11:117314617C>A	uc001prh.1	-	20	4029	c.4027G>T	c.(4027-4029)Gag>Tag	p.E1343*		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1283	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCAGCAGGCTCGATGGTCACC	0.617000														35			6		5.18039e-06	5.39624e-06	1	1	0
HELB	92797	broad.mit.edu	37	12	66703764	66703764	+	Missense_Mutation	SNP	C	A	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr12:66703764C>A	uc001sti.2	+	3	1084	c.1056C>A	c.(1054-1056)ttC>ttA	p.F352L	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	352					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CCTGTGTCTTCCCTTATGACC	0.413000														219			21		4.96729e-08	5.64465e-08	1	1	0
AFTPH	54812	broad.mit.edu	37	2	64780025	64780025	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:64780025G>T	uc002sdc.3	+	0	1449	c.1417G>T	c.(1417-1419)Gaa>Taa	p.E473*	AFTPH_uc002scz.3_Nonsense_Mutation_p.E473*|AFTPH_uc002sda.3_Nonsense_Mutation_p.E473*|AFTPH_uc002sdb.3_Nonsense_Mutation_p.E473*	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	473					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ACATTTTAGTGAACCAGGTGA	0.403000														119			7		2.0095e-06	2.18424e-06	1	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					50			17		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43738724	43738724	+	Silent	SNP	C	T	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr15:43738724C>T	uc001zrs.3	-	13	3034	c.2886G>A	c.(2884-2886)gaG>gaA	p.E962E	TP53BP1_uc010udp.2_Silent_p.E962E|TP53BP1_uc001zrq.4_Silent_p.E967E|TP53BP1_uc001zrr.4_Silent_p.E967E|TP53BP1_uc010udq.1_Silent_p.E967E	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	962					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GATCATGGGTCTCCACCATGC	0.453000								Other conserved DNA damage response genes						86			7		0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125832650	125832650	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr9:125832650G>A	uc011lzh.2	+	14	2064	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_5'UTR	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	644	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GTATGATGAAGAGATTGGTTA	0.438000														101			5		0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225362566	225362566	+	Splice_Site	SNP	C	A	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:225362566C>A	uc010fwy.1	-	12	1682	c.1629_splice	c.e12-1	p.R543_splice	CUL3_uc010zls.1_Splice_Site_p.R471_splice|CUL3_uc002vny.2_Splice_Site_p.R537_splice	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	537					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTAAGTAGAACCTTCAGTAAA	0.373000														48			5		1.23904e-05	1.23904e-05	1	1	0
PPP1R7	5510	broad.mit.edu	37	2	242109234	242109234	+	Missense_Mutation	SNP	C	G	G			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:242109234C>G	uc002wat.1	+	8	867	c.858C>G	c.(856-858)atC>atG	p.I286M	PPP1R7_uc010fzm.1_Missense_Mutation_p.I270M|PPP1R7_uc002wau.1_Missense_Mutation_p.I243M	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA.	286						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CAAATAGAATCAAAAAGATTG	0.378000														43			5		0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94580161	94580161	+	Missense_Mutation	SNP	C	T	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr12:94580161C>T	uc001tdc.3	+	3	1600	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	451	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAGGAGAATTCGTGTTGCAAA	0.423000														40			4		0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8875180	8875180	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr16:8875180G>A	uc002czc.4	+	15	1562	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	ABAT_uc002czd.4_Missense_Mutation_p.G466S|ABAT_uc010buh.3_Missense_Mutation_p.G408S|ABAT_uc010bui.3_Missense_Mutation_p.G466S|ABAT_uc021tcs.1_5'Flank	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	466					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGTGTTGGGTGGCTGTGGTGA	0.527000														84			6		0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64779995	64779995	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:64779995G>A	uc002sdc.3	+	0	1419	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	AFTPH_uc002scz.3_Missense_Mutation_p.E463K|AFTPH_uc002sda.3_Missense_Mutation_p.E463K|AFTPH_uc002sdb.3_Missense_Mutation_p.E463K	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	463					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CACTTTTGAAGAGTCTTCAGA	0.408000														114			15		0	0	1	0	0
