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
CYTH4	27128	broad.mit.edu	37	22	37688673	37688673	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr22:37688673C>A	uc003arf.3	+	1	147	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	CYTH4_uc003ard.4_Missense_Mutation_p.L11M|CYTH4_uc003are.2_Missense_Mutation_p.L11M|CYTH4_uc011amw.2_5'UTR	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	11					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GCCCGCGGAGCTGAGCAGCGG	0.612000													36	46					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869357	36869357	+	Silent	SNP	T	T	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr20:36869357T>C	uc002xhy.1	-	2	1448	c.1176A>G	c.(1174-1176)tcA>tcG	p.S392S	KIAA1755_uc002xhz.1_Silent_p.S392S	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	392										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGGCTCTTGTGAGACACCTG	0.587000													71	158					0	0	1	0	0
SPDYE5	442590	broad.mit.edu	37	7	75124522	75124522	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr7:75124522A>G	uc011kfy.2	+	0	224	c.88A>G	c.(88-90)Agg>Ggg	p.R30G		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	30																	TGGCTGGAAAAGGAAGAGGGA	0.577000													3	57					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125850235	125850235	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:125850235T>C	uc003eim.1	-	12	1805	c.1615A>G	c.(1615-1617)Aag>Gag	p.K539E	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Missense_Mutation_p.K438E|ALDH1L1_uc003eio.3_Missense_Mutation_p.K241E	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	539	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACCTGGATCTTGTCACACCAG	0.607000													86	224					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51399384	51399384	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:51399384G>A	uc011bds.2	+	47	5124	c.5101G>A	c.(5101-5103)Ggc>Agc	p.G1701S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1701						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTGGGTGACGGCTCCATGGG	0.567000													6	13					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191862642	191862642	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr2:191862642C>G	uc010fse.2	-	7	1157	c.725G>C	c.(724-726)aGa>aCa	p.R242T	STAT1_uc021vue.1_Missense_Mutation_p.R54T|STAT1_uc002usj.2_Missense_Mutation_p.R242T|STAT1_uc002usk.2_Missense_Mutation_p.R242T|STAT1_uc002usl.2_Missense_Mutation_p.R244T|STAT1_uc010fsf.1_Missense_Mutation_p.R54T	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	242					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity	p.R241W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GCTCTGCTGTCTCCGCTTCCA	0.483000													3	64					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152765610	152765611	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr6:152765610_152765611TG>CT	uc021zhb.1	-	27	3995_3996	c.3772_3773CA>AG	c.(3772-3774)caa>AGa	p.Q1258R	SYNE1_uc003qot.4_Missense_Mutation_p.Q1265R|SYNE1_uc003qou.4_Missense_Mutation_p.Q1258R|SYNE1_uc010kjb.1_Missense_Mutation_p.Q1241R|SYNE1_uc003qow.3_Missense_Mutation_p.Q553R|SYNE1_uc003qox.1_Missense_Mutation_p.Q774R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1258					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCTCAGCTTGTTCCTGGACT	0.366000										HNSCC(10;0.0054)			29	86					0	0	1	0	0
KRT18P55	284085	broad.mit.edu	37	17	26603792	26603792	+	Missense_Mutation	SNP	T	T	C	rs138730739	by1000genomes	TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr17:26603792T>C	uc002has.3	-	2	1170	c.683A>G	c.(682-684)aAt>aGt	p.N228S						Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA.																		CCAAGTGACATTGGTGTCATC	0.502000													23	45					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107097052	107097052	+	Silent	SNP	C	C	T			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:107097052C>T	uc003dwi.1	+	0	865	c.618C>T	c.(616-618)gaC>gaT	p.D206D		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	206										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AGTCCACTGACCATCTTGAGA	0.393000													34	81					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5076150	5076150	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr17:5076150T>A	uc002gau.1	+	37	6328	c.4098T>A	c.(4096-4098)taT>taA	p.Y1366*	USP6_uc002gav.1_Nonsense_Mutation_p.Y1366*|USP6_uc010ckz.1_Nonsense_Mutation_p.Y1049*	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1366					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTCTTTTCTATGAGCAGCAGG	0.428000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								44	115					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33451063	33451063	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:33451063G>A	uc003cfq.4	-	5	1116	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	UBP1_uc003cfr.4_Missense_Mutation_p.R196W|UBP1_uc010hga.3_Missense_Mutation_p.R196W	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	196					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CCGTGCTTCCGTGGAGTAAAT	0.418000													22	86					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32477651	32477651	+	Silent	SNP	C	C	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr2:32477651C>G	uc002roi.3	-	2	360	c.99G>C	c.(97-99)ctG>ctC	p.L33L	NLRC4_uc021vfq.1_Silent_p.L33L|NLRC4_uc002roj.2_Silent_p.L33L|NLRC4_uc010ezt.2_Silent_p.L33L	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	33	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTTCGCGATTCAGAACATTCC	0.403000													3	166					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109650693	109650693	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr12:109650693G>A	uc001tob.3	+	21	3421	c.3302G>A	c.(3301-3303)cGa>cAa	p.R1101Q	ACACB_uc001toc.3_Missense_Mutation_p.R1101Q	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1101					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AAGGCTGATCGAGAGGTCTTC	0.542000													50	121					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181378	140181378	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr5:140181378A>G	uc003lhf.2	+	0	596	c.596A>G	c.(595-597)aAt>aGt	p.N199S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.N199S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	214	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGAAAAAAAATTTAAATCGA	0.368000													3	107					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	6014123	6014123	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr17:6014123A>C	uc010cli.3	+	6	1421	c.1042A>C	c.(1042-1044)Aac>Cac	p.N348H	WSCD1_uc002gcn.3_Missense_Mutation_p.N348H|WSCD1_uc002gco.3_Missense_Mutation_p.N348H|WSCD1_uc010clj.3_Missense_Mutation_p.N39H	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	348						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GTTCCTGCCTAACAAATCCAA	0.493000													7	327					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149171562	149171562	+	Silent	SNP	G	G	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr7:149171562G>A	uc010lpi.2	-	6	2122	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	ZNF746_uc003wfw.2_Silent_p.S616S	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	616					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AAGGTCCTTTGGAGGCGGGGC	0.687000													13	15					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76331518	76331518	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr5:76331518A>G	uc003ket.3	+	2	848	c.466A>G	c.(466-468)Aca>Gca	p.T156A	AGGF1_uc003kes.3_Missense_Mutation_p.T156A|AGGF1_uc003keu.1_Non-coding_Transcript	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	156					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TACCGATAGAACAGAAAATGT	0.353000													18	70					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55782771	55782771	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr10:55782771G>C	uc010qhy.1	-	19	2817	c.2422C>G	c.(2422-2424)Cta>Gta	p.L808V	PCDH15_uc010qhq.2_Missense_Mutation_p.L808V|PCDH15_uc010qhr.2_Missense_Mutation_p.L803V|PCDH15_uc021pqv.1_Missense_Mutation_p.L803V|PCDH15_uc021pqw.1_Missense_Mutation_p.L815V|PCDH15_uc010qht.2_Missense_Mutation_p.L810V|PCDH15_uc021pqx.1_Missense_Mutation_p.L803V|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.L803V|PCDH15_uc021pqz.1_Missense_Mutation_p.L781V|PCDH15_uc010qhv.1_Missense_Mutation_p.L803V|PCDH15_uc010qhw.1_Missense_Mutation_p.L766V|PCDH15_uc010qhx.1_Missense_Mutation_p.L732V|PCDH15_uc010qhz.1_Missense_Mutation_p.L803V|PCDH15_uc010qia.1_Missense_Mutation_p.L781V|PCDH15_uc001jju.1_Missense_Mutation_p.L803V|PCDH15_uc010qib.1_Missense_Mutation_p.L781V|PCDH15_uc001jjw.3_Missense_Mutation_p.L803V	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	803	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.L808I(1)|p.L803I(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCCAAGGTTAGAGTTGAATGA	0.443000										HNSCC(58;0.16)			28	88					0	0	1	0	0
FAM48A	55578	broad.mit.edu	37	13	37583813	37583813	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr13:37583813A>C	uc001uwg.3	-	25	2584	c.2336T>G	c.(2335-2337)tTt>tGt	p.F779C	FAM48A_uc010abt.3_3'UTR|FAM48A_uc001uwh.3_3'UTR|FAM48A_uc001uwi.3_3'UTR|FAM48A_uc001uwj.3_3'UTR|FAM48A_uc001uwk.3_3'UTR|FAM48A_uc001uwd.3_3'UTR|FAM48A_uc001uwe.3_Missense_Mutation_p.F263C|FAM48A_uc001uwf.3_Missense_Mutation_p.F345C	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 1, mRNA.	779					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		CAAGACTCAAAATTTTGGAGT	0.378000													58	111					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813367	248813367	+	Silent	SNP	A	A	T			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr1:248813367A>T	uc010pzo.2	-	0	819	c.819T>A	c.(817-819)gcT>gcA	p.A273A		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCAGATACAGCTTTGTCCT	0.522000													38	33					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	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				24	74					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117725989	117725989	+	Silent	SNP	G	G	T			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr12:117725989G>T	uc001twn.2	-	4	1728	c.1017C>A	c.(1015-1017)tcC>tcA	p.S339S	NOS1_uc021ren.1_Silent_p.S3S|NOS1_uc021reo.1_Silent_p.S3S|NOS1_uc001twm.2_Silent_p.S339S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	339					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GATGCATGATGGAGCCCATGC	0.483000													25	50					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31022741	31022741	+	Silent	SNP	G	G	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr20:31022741G>C	uc021wbw.1	+	12	2658	c.2226G>C	c.(2224-2226)ggG>ggC	p.G742G	ASXL1_uc002wxs.3_Silent_p.G741G|ASXL1_uc010geb.3_Silent_p.G633G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	742					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.D741V(1)|p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCACAGATGGGCTAGGAGATG	0.577000			"""F, N, Mis"""		"""MDS, CMML"""								16	25					0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46877297	46877298	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr1:46877297_46877298delCT	uc001cpu.2	+	11	1412_1413	c.1330_1331delCT	c.(1330-1332)ctcfs	p.L444fs	FAAH_uc001cpv.2_Intron	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	444					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GGCTGGAAAACTCTGGGAACTG	0.594													16	33	---	---	---	---