Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NUP214	8021	broad.mit.edu	37	9	134004831	134004831	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr9:134004831G>A	uc004cag.3	+	3	670	c.559G>A	c.(559-561)Gca>Aca	p.A187T	NUP214_uc004cah.3_Missense_Mutation_p.A187T|NUP214_uc004caf.1_Missense_Mutation_p.A187T	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	187					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAAAGTATGTGCAACTCTTCC	0.448000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								15	176					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100152261	100152261	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr1:100152261A>G	uc001dsg.3	+	3	724	c.281A>G	c.(280-282)aAa>aGa	p.K94R		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	94					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GATCTTGAAAAAGCTGAACTG	0.368000													8	30					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121616260	121616260	+	Silent	SNP	T	T	C			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:121616260T>C	uc003eep.2	+	2	372	c.219T>C	c.(217-219)taT>taC	p.Y73Y	SLC15A2_uc011bjn.1_Silent_p.Y73Y	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	73			Y -> C (in dbSNP:rs1143667).		protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	ATTTCCTGTATTTCCTGCACT	0.433000													57	67					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47042545	47042545	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:47042545A>G	uc003cqp.3	+	27	4539	c.4360A>G	c.(4360-4362)Acg>Gcg	p.T1454A	NBEAL2_uc010hjm.2_Missense_Mutation_p.T831A|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1454							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTTCTCGGTGACGTGGCGTGG	0.632000													3	49					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74971835	74971835	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr14:74971835G>A	uc001xqa.3	-	28	4607	c.4220C>T	c.(4219-4221)gCc>gTc	p.A1407V		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1407					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCGGGTGGGGGCCGGGGCATG	0.622000													4	66					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964650	94964650	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr14:94964650T>A	uc001ydj.3	-	2	881	c.85A>T	c.(85-87)Aat>Tat	p.N29Y		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	29					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCTTTATAATTCCTTGGTGAG	0.473000													4	87					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124952243	124952243	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:124952243C>G	uc003ehx.4	-	8	1813	c.1327G>C	c.(1327-1329)Gac>Cac	p.D443H	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.D443H|ZNF148_uc010hsa.3_Missense_Mutation_p.D443H|ZNF148_uc003eia.4_Missense_Mutation_p.D443H|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	443					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGATCAATGTCAGCATTGCCT	0.393000													3	67					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86270359	86270359	+	Silent	SNP	G	G	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr15:86270359G>A	uc002blu.1	+	27	7067	c.6897G>A	c.(6895-6897)gaG>gaA	p.E2299E	AKAP13_uc002blv.1_Silent_p.E2295E|AKAP13_uc010bnf.1_Silent_p.E916E|AKAP13_uc002blw.1_Silent_p.E760E|AKAP13_uc002blx.1_Silent_p.E540E	NM_006738	NP_006729	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 1, mRNA.	2295	Interaction with ESR1.|PH.				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|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CACATGAGGAGAAAGGTTTAT	0.433000													7	57					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32336877	32336877	+	Splice_Site	SNP	A	A	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr20:32336877A>G	uc002wzy.3	+	4	509	c.489_splice	c.e4+1	p.Q163_splice	ZNF341_uc002wzx.3_Splice_Site_p.Q163_splice|ZNF341_uc010geq.3_Splice_Site_p.Q73_splice|ZNF341_uc010ger.3_Splice_Site	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	163	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCACCTGTGCAGGTAAGAAGG	0.557000													3	66					0	0	1	0	0
TMEM181	57583	broad.mit.edu	37	6	158957887	158957887	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr6:158957887C>T	uc003qrm.4	+	0	420	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	TMEM181_uc010kjr.1_Silent_p.T2T	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	Homo sapiens transmembrane protein 181 (TMEM181), mRNA.	137					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CAAGGATGACCGCTACTACAG	0.746000													5	39					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40937653	40937653	+	Splice_Site	SNP	G	G	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr5:40937653G>T	uc003jmh.3	+	6	543	c.429_splice	c.e6-1	p.G143_splice	C7_uc011cpn.1_Splice_Site	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	143	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CCTTTTAACAGTTACAATGAA	0.378000													8	14					0	0	1	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238544	71238544	+	Silent	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr11:71238544C>T	uc001oqq.1	+	0	232	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA.	66	7 X 4 AA repeats of C-C-X-P.					keratin filament		p.G66G(2)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CCAAGGGAGGCTGTGGCTCCT	0.652000													8	352					0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12297911	12297911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr19:12297911C>T	uc002mti.3	+	3	865	c.718C>T	c.(718-720)Cga>Tga	p.R240*	ZNF136_uc010xmh.2_Nonsense_Mutation_p.R174*	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	240					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CACAAGTGTTCGAAGACACAT	0.393000													28	35					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13708265	13708265	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr10:13708265C>T	uc001ims.3	-	17	1787	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	FRMD4A_uc009xjf.1_Missense_Mutation_p.A479T|FRMD4A_uc001imt.1_Missense_Mutation_p.A512T	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	479						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGGCGGCGGGCGGCCTCCGTA	0.527000													13	31					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7797853	7797853	+	Missense_Mutation	SNP	G	G	A	rs144356754		TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr17:7797853G>A	uc002gjd.2	+	7	1375	c.1373G>A	c.(1372-1374)cGt>cAt	p.R458H	CHD3_uc002gje.2_Missense_Mutation_p.R399H|CHD3_uc002gjf.2_Missense_Mutation_p.R399H|CHD3_uc002gjg.1_Missense_Mutation_p.R227H	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	399					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACCTGCCCTCGTGCCTACCAC	0.577000													7	184					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1229245	1229245	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr10:1229245G>A	uc009xhq.3	-	9	2434	c.2108C>T	c.(2107-2109)gCg>gTg	p.A703V	ADARB2_uc001igj.2_Missense_Mutation_p.A87V|ADARB2_uc001igl.4_Missense_Mutation_p.A65V|ADARB2_uc001igm.4_Missense_Mutation_p.A212V	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	703	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTAGGTGTGCGCCCCCAGCTT	0.592000													5	35					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48190438	48190438	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr18:48190438C>T	uc002lev.3	+	1	1110	c.110C>T	c.(109-111)gCc>gTc	p.A37V	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.A37V	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	37	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GTGCTGTCGGCCGTGGACAGC	0.597000													8	118					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228118353	228118353	+	Splice_Site	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr2:228118353C>T	uc002vom.2	+	13	927	c.765_splice	c.e13+1	p.T255_splice	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	255	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GATAACAGAACGGTAACTCTG	0.468000													4	142					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130339245	130339245	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr11:130339245C>G	uc010scd.2	+	4	1631	c.1631C>G	c.(1630-1632)aCc>aGc	p.T544S		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	544	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGGCAGTGCACCAACCCCACC	0.642000													7	52					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	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				25	45					0	0	1	0	0
VN1R5	317705	broad.mit.edu	37	1	247420154	247420154	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr1:247420154G>C	uc010pyu.2	+	1	778	c.778G>C	c.(778-780)Gtc>Ctc	p.V260L		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	261					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			CTGTCCCCGAGTCTCACCAGT	0.468000													4	60					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38697694	38697695	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr6:38697694_38697695insT	uc021yzh.1	+	3	651_652	c.542_543insT	c.(541-543)aatfs	p.N181fs	DNAH8_uc003ooe.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCATTTACTAATTTTTTTGCGA	0.337													2	4	---	---	---	---					
TLCD2	727910	broad.mit.edu	37	17	1613182	1613183	+	Splice_Site	INS	-	-	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr17:1613182_1613183insG	uc021tnh.1	-	2	303	c.177_splice	c.e2-1	p.G59_splice		NM_001164407	NP_001157879	A6NGC4	TLCD2_HUMAN	Homo sapiens TLC domain containing 2 (TLCD2), mRNA.	59	TLC.					integral to membrane				prostate(1)	1						AGTGACAGGCTGGGGGCATGGG	0.693													2	4	---	---	---	---					
