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
DNAH5	1767	broad.mit.edu	37	5	13788939	13788939	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr5:13788939T>C	uc003jfd.2	-	50	8575	c.8533A>G	c.(8533-8535)Aag>Gag	p.K2845E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2845					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTAAAGCCTTATCAAACCAG	0.398000									Kartagener syndrome				3	141					0	0	1	0	0
DEFB119	245932	broad.mit.edu	37	20	29976952	29976952	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr20:29976952C>T	uc002wvu.1	-	1	263	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron	NM_153323	NP_697018	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA.	54					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AACACAGCACCGTTTACGATT	0.458000													3	151					0	0	1	0	0
LANCL2	55915	broad.mit.edu	37	7	55479606	55479606	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr7:55479606G>A	uc003tqp.3	+	5	1410	c.832G>A	c.(832-834)Gca>Aca	p.A278T		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	278					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			AAAGCCGGCAGCAAAAGTGGA	0.348000													3	93					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7604998	7604998	+	Silent	SNP	G	G	A	rs34740153		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:7604998G>A	uc010vuh.2	+	6	1001	c.846G>A	c.(844-846)tcG>tcA	p.S282S	WRAP53_uc010vui.2_Silent_p.S282S|WRAP53_uc002gip.3_Silent_p.S282S|WRAP53_uc002gir.3_Silent_p.S282S|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.S249S|WRAP53_uc010vuj.2_Silent_p.S63S	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	282					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CAGCCCATTCGCTCTGCTTCT	0.622000													24	28					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr11:18505466T>C	uc001mor.3	-	7	934	c.794A>G	c.(793-795)aAg>aGg	p.K265R		NM_006292	NP_006283	Q99816	TS101_HUMAN	Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.	265					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438000													4	428					0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53268422	53268422	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chrX:53268422A>T	uc004dsd.3	-	10	3271	c.3070T>A	c.(3070-3072)Tct>Act	p.S1024T	IQSEC2_uc004dsc.3_Missense_Mutation_p.S819T	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	1014	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AGGGGGAAAGACTGACGGAAA	0.512000											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	41					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		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	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			95	118					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120442128	120442128	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:120442128G>T	uc003idh.3	-	12	2022	c.1867C>A	c.(1867-1869)Cag>Aag	p.Q623K	PDE5A_uc003idf.3_Missense_Mutation_p.Q581K|PDE5A_uc003idg.3_Missense_Mutation_p.Q571K|AF085995_uc003idi.4_Intron	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	623	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AACATGCACTGAGCTGTATTA	0.333000													5	227					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64812808	64812808	+	Silent	SNP	C	C	G			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr12:64812808C>G	uc001ssb.3	+	5	929	c.423C>G	c.(421-423)ctC>ctG	p.L141L	XPOT_uc009zqm.2_Silent_p.L51L	NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	141	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.L141L(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GAGTAGATCTCTACCTGCGAA	0.398000													4	147					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023164	18023164	+	Silent	SNP	C	C	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:18023164C>T	uc021trm.1	+	0	1269	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	MYO15A_uc021trl.1_Silent_p.D350D	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	350	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGCCGTACGACGCGCCATACC	0.607000													10	180					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19058159	19058159	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr9:19058159G>A	uc003znk.3	-	15	2859	c.2606C>T	c.(2605-2607)aCt>aTt	p.T869I	HAUS6_uc011lmz.2_Missense_Mutation_p.T589I|HAUS6_uc022bdv.1_Missense_Mutation_p.T733I|HAUS6_uc003znl.1_Missense_Mutation_p.T733I	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	869					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTTTGGGGAGTAGGGCTCAA	0.423000													4	228					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73178108	73178108	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:73178108T>A	uc003hgk.2	-	12	1858	c.1821A>T	c.(1819-1821)aaA>aaT	p.K607N	ADAMTS3_uc003hgl.3_5'Flank	NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	607					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTCAAAGTGTTTTTGGCATT	0.423000													4	96					0	0	1	0	0
RAB39B	116442	broad.mit.edu	37	X	154490295	154490295	+	Silent	SNP	G	G	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chrX:154490295G>A	uc004fne.3	-	1	714	c.435C>T	c.(433-435)taC>taT	p.Y145Y		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.	145					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTTCATGCCGTATGCAGCAG	0.498000													4	96					0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96354366	96354366	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr12:96354366C>T	uc001tel.2	+	4	884	c.778C>T	c.(778-780)Cat>Tat	p.H260Y	AMDHD1_uc009zth.2_Missense_Mutation_p.H151Y	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	260					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GATTAACTTCCATGGGGATGA	0.423000													11	125					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3187546	3187546	+	Silent	SNP	C	C	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr18:3187546C>A	uc002klp.3	-	4	1195	c.861G>T	c.(859-861)acG>acT	p.T287T	MYOM1_uc002klq.3_Silent_p.T287T	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	287	Ig-like C2-type 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTCCCAAACCGTGTGGGAGC	0.428000													5	127					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123725972	123725972	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr9:123725972G>A	uc004bkv.3	-	33	4295	c.4265C>T	c.(4264-4266)gCg>gTg	p.A1422V		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1422					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GTCCATCACCGCATGAGAGGA	0.358000													3	79					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10114264	10114264	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr19:10114264G>T	uc002mmq.1	-	5	912	c.826C>A	c.(826-828)Cct>Act	p.P276T		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	276	Nonhelical 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)			GAGTCAGGAGGTGGACTTGAG	0.557000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	107					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865945	47865945	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr20:47865945C>G	uc002xui.3	-	13	3863	c.3616G>C	c.(3616-3618)Ggc>Cgc	p.G1206R		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1206							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCACCTTGCCTTCTTGGTTG	0.522000													4	205					0	0	1	0	0
UTP3	57050	broad.mit.edu	37	4	71555625	71555625	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:71555625A>G	uc003hfo.3	+	0	1430	c.1231A>G	c.(1231-1233)Att>Gtt	p.I411V		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.	411					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			AAAGAGAGCTATTACCTATCA	0.373000													49	55					0	0	1	0	0
ANXA7	310	broad.mit.edu	37	10	75156277	75156277	+	Splice_Site	SNP	C	C	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr10:75156277C>A	uc001jtz.2	-	5	508	c.435_splice	c.e5+1	p.Q145_splice	ANXA7_uc001jua.2_Splice_Site_p.Q145_splice|ANXA7_uc010qki.1_Splice_Site_p.Q55_splice|ANXA7_uc009xre.3_Splice_Site_p.Q74_splice|ANXA7_uc009xrf.1_Splice_Site_p.Q87_splice	NM_004034	NP_004025	P20073	ANXA7_HUMAN	Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA.	145							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					AACAAAATACCTGACTAGGGT	0.418000													3	62					0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72945406	72945406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:72945406C>A	uc010wrr.2	+	6	1686	c.1686C>A	c.(1684-1686)taC>taA	p.Y562*	OTOP3_uc010wrq.2_Nonsense_Mutation_p.Y544*	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	562						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGATTTCTACGGCTACCAGA	0.567000													3	125					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209347	140209347	+	Silent	SNP	C	C	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr5:140209347C>T	uc003lho.2	+	0	1698	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.D557D	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	571	Cadherin 5.				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)			TCGTGCTGGACGAGAACGACA	0.687000													4	133					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118512834	118512834	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr11:118512834delT	uc010ryj.1	+	0	78	c.13delT	c.(13-15)tttfs	p.F5fs	PHLDB1_uc001ptr.2_Intron|PHLDB1_uc001pts.3_Intron|PHLDB1_uc001ptt.3_Intron|PHLDB1_uc001ptu.2_Intron|PHLDB1_uc001ptv.2_Intron|PHLDB1_uc001ptw.2_Intron|PHLDB1_uc009zai.2_Intron|PHLDB1_uc001ptx.2_Intron|PHLDB1_uc010ryi.1_Intron			Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 2, mRNA.	0										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GTGGCCTTCCTTTTTAAcctt	0.473													2	4	---	---	---	---