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
SRSF12	135295	broad.mit.edu	37	6	89808601	89808601	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:89808601G>C	uc021zcq.1	-	4	676	c.482C>G	c.(481-483)tCt>tGt	p.S161C		NM_080743	NP_542781	Q8WXF0	SRS12_HUMAN	Homo sapiens serine/arginine-rich splicing factor 12 (SRSF12), mRNA.	161	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	RNA binding|RS domain binding|nucleotide binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						TGCTGAGGTAGACCGCCTTGG	0.428000													44	123					0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147026458	147026458	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chrX:147026458C>T	uc010nst.3	+	14	1770	c.1541C>T	c.(1540-1542)tCa>tTa	p.S514L	FMR1_uc004fcj.3_Missense_Mutation_p.S491L|FMR1_uc022cgc.1_Intron|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Intron|FMR1_uc022cge.1_Missense_Mutation_p.S493L|FMR1_uc022cgf.1_Intron|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_Missense_Mutation_p.S354L|FMR1_uc011mxa.2_Missense_Mutation_p.S161L	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	514	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGATTGGTCATTAGCTCCA	0.493000									Fragile X syndrome				8	21					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29591190	29591190	+	Silent	SNP	T	T	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:29591190T>G	uc003nmt.4	-	7	1191	c.855A>C	c.(853-855)cgA>cgC	p.R285R	GABBR1_uc003nmp.4_Silent_p.R168R|GABBR1_uc003nms.4_Silent_p.R168R|GABBR1_uc003nmu.4_Silent_p.R223R|GABBR1_uc011dlr.2_Silent_p.R108R|GABBR1_uc011dls.1_Silent_p.R285R	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	285					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	ATGGGTGCGTTCGGAAGAAAG	0.562000													6	20					0	0	1	0	0
RRAGD	58528	broad.mit.edu	37	6	90082246	90082246	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:90082246G>T	uc003pnd.4	-	5	1244	c.961C>A	c.(961-963)Ctt>Att	p.L321I	RRAGD_uc010kcc.3_Missense_Mutation_p.L170I	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN	Homo sapiens Ras-related GTP binding D (RRAGD), mRNA.	321					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		GTATTATTAAGCTTTATGATG	0.398000											OREG0017567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	30					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55349397	55349397	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:55349397C>T	uc001cyc.1	-	1	410	c.281G>A	c.(280-282)cGc>cAc	p.R94H	DHCR24_uc010ook.1_Missense_Mutation_p.R53H	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	94	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CCAGCCAGGGCGCCCCGTGCA	0.562000													22	75					0	0	1	0	0
ANAPC7	51434	broad.mit.edu	37	12	110812081	110812081	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:110812081C>T	uc001tqo.2	-	10	1669	c.1668G>A	c.(1666-1668)gaG>gaA	p.E556E		NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.	556					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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 K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CCGTGGGACTCTCCTCCTTCT	0.577000													3	28					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36686017	36686017	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:36686017C>T	uc002odn.3	-	2	159	c.51G>A	c.(49-51)ctG>ctA	p.L17L	ZNF565_uc010ees.3_5'UTR|ZNF565_uc002odo.3_Silent_p.L17L|ZNF565_uc002odp.1_Silent_p.L17L	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCCATTCTTCCAGAGAGAACT	0.443000													3	49					0	0	1	0	0
EIF1AX	1964	broad.mit.edu	37	X	20148726	20148726	+	Splice_Site	SNP	C	C	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chrX:20148726C>G	uc004czt.3	-	6	546	c.338_splice	c.e6-1	p.A113_splice		NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	113						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTGATTTTAGCTAAGGACACA	0.313000													7	32					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370229	86370229	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr13:86370229C>T	uc001vll.1	-	1	874	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SLITRK6_uc021rla.1_Missense_Mutation_p.E139K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	139						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGCAGGAATTCCAGGTTTTCC	0.363000													11	94					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184920	130184920	+	Missense_Mutation	SNP	G	G	A	rs138159153	by1000genomes	TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:130184920G>A	uc009zyl.1	-	1	731	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	135						integral to membrane		p.R135R(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTTTGTCCCGCAGGATGTGG	0.537000													7	23					0	0	1	0	0
ZNF362	149076	broad.mit.edu	37	1	33745738	33745738	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:33745738C>T	uc001bxc.1	+	4	533	c.363C>T	c.(361-363)tcC>tcT	p.S121S		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGGGGCTGTCCACCCGGACCC	0.687000													11	33					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33420177	33420177	+	Splice_Site	SNP	A	A	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr3:33420177A>G	uc003cfp.3	+	13	966	c.895_splice	c.e13-1	p.I299_splice	FBXL2_uc011axm.1_Splice_Site|FBXL2_uc011axn.1_Splice_Site|FBXL2_uc011axp.2_Splice_Site_p.I215_splice|FBXL2_uc021wuy.1_Splice_Site_p.I231_splice|FBXL2_uc011axo.2_Splice_Site_p.I194_splice|FBXL2_uc011axr.1_Splice_Site|FBXL2_uc011axq.1_Splice_Site|FBXL2_uc011axs.1_Splice_Site	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	299					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TTCTCTCCAGATAACCGACAG	0.428000													13	29					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134894	27134894	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:27134894T>C	uc003sye.3	-	0	732	c.638A>G	c.(637-639)aAc>aGc	p.N213S	HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_Missense_Mutation_p.N213S|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	213						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTTGGGAGGGTTTCTTTTGAC	0.488000													5	31					0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149462027	149462027	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:149462027G>A	uc003wgd.2	-	4	1705	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	ZNF467_uc003wgc.3_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	Homo sapiens zinc finger protein 467 (ZNF467), mRNA.	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGAAGCTGCGGGCGCAGACG	0.701000													5	18					0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24416723	24416723	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:24416723G>C	uc011djl.2	+	7	949	c.827G>C	c.(826-828)tGg>tCg	p.W276S	MRS2_uc003nea.3_Missense_Mutation_p.W273S|MRS2_uc003neb.3_Missense_Mutation_p.W273S|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Missense_Mutation_p.W223S	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.	273					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GTATCAAAATGGAGTGACCCA	0.318000													17	61					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762045	53762045	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:53762045C>T	uc002qbi.2	+	0	501	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	139					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CCTTGGTTATCCTATCTAAAA	0.383000													11	36					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180036	124180036	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr11:124180036C>T	uc010sag.2	-	0	627	c.627G>A	c.(625-627)gtG>gtA	p.V209V		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CTAGGGTGGGCACCAAGGTGT	0.498000													5	32					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153924016	153924016	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:153924016G>A	uc021pab.1	-	10	1283	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Intron	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	375	Ser-rich.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	p.S375F(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCCAAGGAGGAGGCAGGCAG	0.642000													6	38					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79383543	79383543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:79383543C>A	uc001diq.4	-	10	1810	c.1654G>T	c.(1654-1656)Gga>Tga	p.G552*		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	552					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATCTGTATCCTAGTGCTGCC	0.358000													4	82					0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76697789	76697789	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr17:76697789T>A	uc021ueg.1	-	5	472	c.401A>T	c.(400-402)cAt>cTt	p.H134L	CYTH1_uc002jvw.3_Missense_Mutation_p.H134L|CYTH1_uc010wtw.1_Missense_Mutation_p.H75L|CYTH1_uc010wtx.1_Missense_Mutation_p.H75L	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	134	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGTGAACTCATGCAGCTCCAC	0.463000													6	83					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10079134	10079134	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:10079134G>A	uc002mmq.1	-	58	4327	c.4241C>T	c.(4240-4242)cCg>cTg	p.P1414L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1414	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGCTTCTCCCGGGGGGCCAAT	0.592000													15	82					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93595969	93595969	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr3:93595969G>T	uc003drb.4	-	13	2052	c.1711C>A	c.(1711-1713)Caa>Aaa	p.Q571K	PROS1_uc010hoo.3_Missense_Mutation_p.Q440K|PROS1_uc003dqz.4_Missense_Mutation_p.Q440K	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	571	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TGAGATTGTTGATCGGAACAT	0.373000													9	34					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	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				5	35					0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1046799	1046799	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:1046799C>T	uc001ift.3	+	6	908	c.837C>T	c.(835-837)ttC>ttT	p.F279F	GTPBP4_uc010qac.1_Silent_p.F70F|GTPBP4_uc010qad.2_Silent_p.F163F|GTPBP4_uc010qae.2_Silent_p.F232F	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	279					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.L278L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GACCTCTCTTCATCAACAAGG	0.463000													6	75					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7595248	7595248	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:7595248C>T	uc002mgo.3	+	11	1577	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	MCOLN1_uc002mgp.3_Missense_Mutation_p.A444V	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	479					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACGTTCGCCGCCATGCAGGCG	0.602000													14	157					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25380277	25380278	+	Missense_Mutation	DNP	GA	GA	TT	rs121913238		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:25380277_25380278GA>TT	uc001rgp.1	-	2	361_362	c.180_181TC>AA	c.(178-183)ggtcaa>ggAAaa	p.Q61K	KRAS_uc001rgq.1_Missense_Mutation_p.Q61K	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(208)|p.Q61L(71)|p.Q61K(64)|p.Q61R(56)|p.Q61E(20)|p.Q61P(12)|p.G60G(2)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60A(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TACTCCTCTTGACCTGCTGTGT	0.411000	Q61K(CALU6_LUNG)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	24					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112112868	112112868	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:112112868G>A	uc003vgh.3	+	11	1688	c.1218G>A	c.(1216-1218)atG>atA	p.M406I	IFRD1_uc011kmn.2_Missense_Mutation_p.M356I|IFRD1_uc003vgj.3_Missense_Mutation_p.M406I|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Missense_Mutation_p.M356I|IFRD1_uc003vgk.3_Missense_Mutation_p.M123I	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	406				LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366).	multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCCCAGTGATGCTTGATGCTG	0.353000													7	41					0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75554317	75554317	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:75554317delC	uc001jvj.3	+	13	3068	c.2813delC	c.(2812-2814)tccfs	p.S938fs	KIAA0913_uc001jve.3_Frame_Shift_Del_p.S943fs|KIAA0913_uc009xrl.3_Frame_Shift_Del_p.S938fs|KIAA0913_uc001jvf.3_Frame_Shift_Del_p.S938fs|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Frame_Shift_Del_p.S366fs|KIAA0913_uc010qkr.2_Frame_Shift_Del_p.S361fs	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	938							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CCCACAGGTTCCCGGCCCCCA	0.498													2	4	---	---	---	---					
