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
TIMM22	29928	broad.mit.edu	37	17	900397	900397	+	Silent	SNP	C	C	A			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr17:900397C>A	ENST00000327158.3	+	1	41	c.15C>A	c.(13-15)gcC>gcA	p.A5A		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	5					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGGCGGCCGCCCCCAATGCCG	0.672000													9	10					0.000274275	0.000274275	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136666	40136666	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr11:40136666C>A	ENST00000278198.2	-	2	3140	c.1177G>T	c.(1177-1179)Gtc>Ttc	p.V393F	LRRC4C_ENST00000528697.1_Missense_Mutation_p.V393F|LRRC4C_ENST00000530763.1_Missense_Mutation_p.V393F|LRRC4C_ENST00000527150.1_Missense_Mutation_p.V393F			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	393	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTGTCATGACTGTTCCATTT	0.478000													40	74					8.01111e-26	8.33155e-26	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274319	39274319	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr17:39274319G>C	ENST00000391413.2	-	1	287	c.249C>G	c.(247-249)agC>agG	p.S83R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	83	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.S83R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTTGCAGCAGCTGGACACAC	0.662000													3	42					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89856163	89856163	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr15:89856163G>A	ENST00000310775.7	+	35	3766	c.3680G>A	c.(3679-3681)gGa>gAa	p.G1227E	FANCI_ENST00000566615.1_3'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.G1167E	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1227					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AACTATACGGGAGAGAAAAAG	0.418000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				3	27					0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58159094	58159094	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr12:58159094T>C	ENST00000228606.4	-	3	784	c.575A>G	c.(574-576)aAg>aGg	p.K192R	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	192					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CAGTCCGAACTTGTAAAATTC	0.692000											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	14					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79301030	79301030	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr4:79301030A>G	ENST00000264895.6	+	27	3883	c.3443A>G	c.(3442-3444)aAt>aGt	p.N1148S	FRAS1_ENST00000325942.6_Missense_Mutation_p.N1148S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1147					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTCCCACCAATGGTCAGCTA	0.468000													10	16					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74364929	74364929	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr4:74364929C>T	ENST00000226355.3	+	11	1481	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	463	Albumin 3.				vitamin transport		vitamin E binding	p.T463M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTTGCTGTACGCTAAGTGAA	0.413000													9	14					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56814908	56814908	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr12:56814908G>A	ENST00000229201.4	-	24	3030	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V	TIMELESS_ENST00000554616.1_Missense_Mutation_p.A457V|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A960V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	960					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CAGGGACTCCGCTCCATTTGG	0.512000													12	30					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054783	29054783	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr6:29054783C>T	ENST00000377173.2	-	1	307	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TATTTACCAACATATGAGGGA	0.448000													16	30					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819825	110819825	+	Silent	SNP	A	A	C			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr5:110819825A>C	ENST00000282356.4	+	11	1481	c.1083A>C	c.(1081-1083)ccA>ccC	p.P361P	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.P361P	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	361					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACCCTTCTCCAATCCAAGATG	0.587000													6	33					0	0	1	0	0
ABHD5	51099	broad.mit.edu	37	3	43759228	43759228	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr3:43759228G>A	ENST00000458276.2	+	6	962	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	ABHD5_ENST00000463153.1_3'UTR	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	280					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		ATGCTCCAGCGAATTGGTAAA	0.458000													3	50					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711000													3	14					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149210402	149210402	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr5:149210402C>T	ENST00000309241.5	+	4	570	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R180C|PPARGC1B_ENST00000360453.4_Intron	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	180					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GACCGCCTGGCGCCAGGCAGG	0.562000													4	59					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56346638	56346638	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr12:56346638A>G	ENST00000331886.5	+	21	2318	c.1864A>G	c.(1864-1866)Atc>Gtc	p.I622V	DGKA_ENST00000551156.1_Missense_Mutation_p.I622V|DGKA_ENST00000394147.1_Missense_Mutation_p.I622V|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	622					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCATGGGGATATCTATGGGAT	0.537000													27	81					0	0	1	0	0
TLDC1	57707	broad.mit.edu	37	16	84531595	84531595	+	Missense_Mutation	SNP	G	G	A	rs144320129	by1000genomes	TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr16:84531595G>A	ENST00000343629.6	-	2	280	c.98C>T	c.(97-99)tCa>tTa	p.S33L	TLDC1_ENST00000561807.1_5'UTR|TLDC1_ENST00000535580.1_5'UTR	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		GTTTTTATCTGATGACAGAGC	0.483000													24	104					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91445123	91445123	+	Nonstop_Mutation	SNP	T	T	A			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr12:91445123T>A	ENST00000266719.3	-	3	1306	c.1059A>T	c.(1057-1059)taA>taT	p.*353Y		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	0					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GAGAATGTGTTTAAATAATGA	0.383000													3	17					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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				13	28					0	0	1	0	0
RSU1	6251	broad.mit.edu	37	10	16824045	16824045	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr10:16824045T>G	ENST00000377921.3	-	2	449	c.148A>C	c.(148-150)Aac>Cac	p.N50H	RSU1_ENST00000602389.1_5'UTR|RSU1_ENST00000345264.5_Missense_Mutation_p.N50H|RSU1_ENST00000464074.2_Intron			Q15404	RSU1_HUMAN	Ras suppressor protein 1	50					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		GTTAGCTTGTTATGGCTGAGG	0.368000													9	12					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9887434	9887434	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr18:9887434G>A	ENST00000306084.6	+	2	1157	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	TXNDC2_ENST00000357775.4_Missense_Mutation_p.E253K|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	320	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCCCAGAAGAAGCCATCCA	0.592000													19	50					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38169958	38169958	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chrX:38169958C>T	ENST00000378505.2	-	7	864	c.688G>A	c.(688-690)Ggc>Agc	p.G230S	RPGR_ENST00000342811.3_Missense_Mutation_p.G230S|RPGR_ENST00000338898.3_Missense_Mutation_p.G230S|RPGR_ENST00000309513.3_Missense_Mutation_p.G230S|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.G230S|RPGR_ENST00000339363.3_Missense_Mutation_p.G230S	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	230					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTGTGATTGCCCAGGAGCTGA	0.478000													9	15					0	0	1	0	0
PSMD14	10213	broad.mit.edu	37	2	162226642	162226642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr2:162226642delC	ENST00000409682.3	+	6	969	c.265delC	c.(265-267)cafs	p.P89fs		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	89	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						GGCAGTTGATCCAGTGTTCCA	0.313													2	4	---	---	---	---					
SPACA1	81833	broad.mit.edu	37	6	88773843	88773843	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr6:88773843delC	ENST00000237201.1	+	6	754	c.637delC	c.(637-639)cafs	p.P213fs	SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	213						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		ATCAAGCCTACCAGCCACTGA	0.333													28	43	---	---	---	---					
ADSSL1	122622	broad.mit.edu	37	14	105196336	105196336	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr14:105196336delT	ENST00000332972.5	+	1	266	c.107delT	c.(106-108)ccfs	p.L36fs	ADSSL1_ENST00000330877.2_Intron	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	0					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	AGCACAGCCCTCCCCTGGCTG	0.667													2	4	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-DJ-A3V5-01A-11D-A22Z-08	TCGA-DJ-A3V5-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3931a87c-3bd4-4502-ae05-671b7c4f2d0c	3ce6003f-639a-446e-bad7-ae6cd1e97418	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													2	4	---	---	---	---					
