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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NEFM	4741	broad.mit.edu	37	8	24772187	24772187	+	Missense_Mutation	SNP	G	C	C			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr8:24772187G>C	uc003xed.4	+	0	914	c.881G>C	c.(880-882)tGc>tCc	p.C294S	NEFM_uc011lac.1_Missense_Mutation_p.C294S|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	294	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGGTTCAAATGCCGCTACGCC	0.602000														55			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	G	G			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522000														84			4		0	0	1	0	0
TMEM19	55266	broad.mit.edu	37	12	72091160	72091160	+	Silent	SNP	C	T	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr12:72091160C>T	uc001sws.3	+	3	1066	c.483C>T	c.(481-483)gtC>gtT	p.V161V	TMEM19_uc001swr.1_Silent_p.V147V	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	161						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		AAATCCCAGTCGATTTTTCCA	0.532000														92			8		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11554444	11554444	+	Missense_Mutation	SNP	C	A	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr17:11554444C>A	uc002gne.3	+	12	2224	c.2156C>A	c.(2155-2157)cCt>cAt	p.P719H	DNAH9_uc010coo.3_Missense_Mutation_p.P13H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	719	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAACACATGCCTGAGACAGCA	0.433000														114			73		7.68447e-34	8.58853e-34	1	1	0
ATRX	546	broad.mit.edu	37	X	76937357	76937357	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:76937357T>C	uc004ecp.4	-	8	3623	c.3391A>G	c.(3391-3393)Aga>Gga	p.R1131G	ATRX_uc004ecq.4_Missense_Mutation_p.R1093G|ATRX_uc004eco.4_Missense_Mutation_p.R916G|ATRX_uc004ecr.2_Missense_Mutation_p.R1063G|ATRX_uc010nlx.1_Missense_Mutation_p.R1102G|ATRX_uc010nly.1_Missense_Mutation_p.R1076G	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1131					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATTCTATTCTTTTCAGTCTC	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							65			58		0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29913039	29913039	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr22:29913039C>T	uc003afr.3	-	17	1995	c.1660G>A	c.(1660-1662)Gcg>Acg	p.A554T	THOC5_uc003afq.3_Missense_Mutation_p.A215T|THOC5_uc003afs.3_Missense_Mutation_p.A554T|THOC5_uc003aft.3_Missense_Mutation_p.A554T|THOC5_uc003afu.3_Missense_Mutation_p.A554T	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	554					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCGATGAGCGCCATGTAGTAG	0.537000														173			5		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52709845	52709845	+	Missense_Mutation	SNP	G	T	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr12:52709845G>T	uc001saf.2	-	6	1157	c.1094C>A	c.(1093-1095)gCc>gAc	p.A365D		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	365	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity	p.A365D(4)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACTGAGGGCCGCCTCACC	0.597000														69			7		0.000157383	0.000157383	1	1	0
GTF3C3	9330	broad.mit.edu	37	2	197657737	197657737	+	Silent	SNP	C	T	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:197657737C>T	uc002uts.3	-	2	511	c.354G>A	c.(352-354)gcG>gcA	p.A118A	GTF3C3_uc010zgu.2_Silent_p.A118A|GTF3C3_uc002utu.3_Silent_p.A118A	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	118						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATACATCGCCCGCAGTGGGTT	0.403000														32			16		0	0	1	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652338	234652338	+	Silent	SNP	G	A	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:234652338G>A	uc002vuz.3	-	0	324	c.225C>T	c.(223-225)ggC>ggT	p.G75G	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	75					protein folding		heat shock protein binding|unfolded protein binding										CTGTGCAGCCGCCCTCCGCCC	0.652000														86			69		0	0	1	0	0
PURB	5814	broad.mit.edu	37	7	44924053	44924053	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr7:44924053C>T	uc003tme.3	-	0	908	c.895G>A	c.(895-897)Ggc>Agc	p.G299S		NM_033224	NP_150093	Q96QR8	PURB_HUMAN	Homo sapiens purine-rich element binding protein B (PURB), mRNA.	299					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						TCGCCGCCGCCGCTGCCCCCA	0.587000														177			4		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102181219	102181219	+	Missense_Mutation	SNP	G	A	A	rs150699636		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr3:102181219G>A	uc003dvt.1	+	5	825	c.725G>A	c.(724-726)gGc>gAc	p.G242D	ZPLD1_uc003dvs.1_Missense_Mutation_p.G226D|ZPLD1_uc011bhg.1_Missense_Mutation_p.G226D	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	226	ZP.			N -> S (in Ref. 3; AAH31261).		integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AATTTGGATGGCAGGTAATTT	0.358000														16			12		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3924509	3924509	+	Missense_Mutation	SNP	G	A	A	rs146431554	byFrequency	TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr17:3924509G>A	uc002fxe.3	-	44	7382	c.7318C>T	c.(7318-7320)Cgg>Tgg	p.R2440W		NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2440							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGACTGGCCGTTCCACCTCT	0.557000														100			4		0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026758	176026758	+	Silent	SNP	G	A	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr5:176026758G>A	uc003meo.1	-	1	253	c.78C>T	c.(76-78)gcC>gcT	p.A26A	GPRIN1_uc021yif.1_Silent_p.A26A	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	26						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGAAGAAGGCTGTGGGTC	0.642000														32			20		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153593614	153593614	+	Silent	SNP	G	A	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:153593614G>A	uc004fkk.2	-	10	1830	c.1581C>T	c.(1579-1581)cgC>cgT	p.R527R	FLNA_uc010nuu.1_Silent_p.R527R	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	527					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTGCTTCACGCGCTCCTCTC	0.622000														159			5		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136545987	136545987	+	Silent	SNP	G	T	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:136545987G>T	uc002tuu.1	-	16	5702	c.5691C>A	c.(5689-5691)ggC>ggA	p.G1897G		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1897					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G1897G(2)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAATGCCAAGCCACAGACTC	0.493000														185			7		2.0095e-06	2.12114e-06	1	1	0
DDX17	10521	broad.mit.edu	37	22	38890935	38890935	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr22:38890935T>C	uc003avy.4	-	6	1100	c.997A>G	c.(997-999)Atg>Gtg	p.M333V	DDX17_uc003avx.4_Missense_Mutation_p.M333V|DDX17_uc011anu.2_Missense_Mutation_p.M246V	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	254	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.D332H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCAAACCCCATATCAAGCATT	0.433000														147			4		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52537632	52537632	+	Silent	SNP	G	A	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr15:52537632G>A	uc010bff.3	-	17	2259	c.2097C>T	c.(2095-2097)taC>taT	p.Y699Y	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	699	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAGAATGCCGTAGCGACTGT	0.507000														136			4		0	0	1	0	0
LOC389765	389765	broad.mit.edu	37	9	88457639	88457639	+	Splice_Site	SNP	A	C	C			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:88457639A>C	uc004aog.2	+	9		c.1609_splice	c.e9-1		AK124523_uc022bjc.1_5'Flank					Homo sapiens kinesin family member 27 pseudogene (LOC389765), non-coding RNA.																		TTTTTTAAAGATTTAAAGATT	0.299000														45			5		0	0	1	0	0
ZFAND5	7763	broad.mit.edu	37	9	74970965	74970965	+	Silent	SNP	G	A	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:74970965G>A	uc010moy.1	-	5	827	c.546C>T	c.(544-546)gaC>gaT	p.D182D	ZFAND5_uc010mox.1_Silent_p.D79D|ZFAND5_uc004aix.2_Silent_p.D182D|ZFAND5_uc004aiw.2_Silent_p.D182D|ZFAND5_uc004aiy.2_Silent_p.D182D	NM_006007	NP_005998	O76080	ZFAN5_HUMAN	Homo sapiens zinc finger, AN1-type domain 5 (ZFAND5), transcript variant c, mRNA.	182							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						AGTTGTGCTTGTCAGAGTAAC	0.378000														39			31		0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47104794	47104794	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:47104794G>A	uc004dhp.3	+	16	2312	c.2312G>A	c.(2311-2313)gGg>gAg	p.G771E	USP11_uc004dhq.3_Missense_Mutation_p.G497E	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	771					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GACTGCGTCGGGTACGTGATG	0.597000														38			16		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98576479	98576479	+	Silent	SNP	C	T	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr7:98576479C>T	uc003upp.3	+	56	8774	c.8565C>T	c.(8563-8565)tgC>tgT	p.C2855C	TRRAP_uc011kis.2_Silent_p.C2837C|TRRAP_uc003upr.3_Silent_p.C2554C	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2855	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.C2837C(1)|p.C2855C(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTGGAGTGCGCCTGGCGGG	0.617000														71			4		0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100912542	100912542	+	Silent	SNP	C	T	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:100912542C>T	uc010nnt.2	-	4	842	c.33G>A	c.(31-33)gcG>gcA	p.A11A	ARMCX2_uc004eid.2_Silent_p.A11A|ARMCX2_uc004eie.3_Silent_p.A11A|ARMCX2_uc004eif.3_Silent_p.A11A|ARMCX2_uc004eig.3_Silent_p.A11A|ARMCX2_uc022caq.1_Silent_p.A11A	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	11						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTATCCCCGCCGCTACACAGC	0.567000														100			63		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									51			28		0	0	1	0	0
UTS2R	2837	broad.mit.edu	37	17	80332481	80332481	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr17:80332481C>T	uc010wvl.2	+	0	281	c.281C>T	c.(280-282)gCg>gTg	p.A94V		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	Homo sapiens urotensin 2 receptor (UTS2R), mRNA.	94						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GTCAACCTGGCGCTGGCCGAC	0.662000														12			7		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285075	55285075	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:55285075G>A	uc010erz.1	+	2	399	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.V121M	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	121					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TCTGGACATCGTGATCATAGG	0.517000														193			10		0	0	1	0	0
LCE5A	254910	broad.mit.edu	37	1	152484246	152484246	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr1:152484246G>A	uc021oyx.1	+	0	236	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	LCE5A_uc001ezy.3_Missense_Mutation_p.R79Q|CRCT1_uc001ezz.3_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	Homo sapiens late cornified envelope 5A (LCE5A), mRNA.	79	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTCCCTCCGACGCCGACCT	0.682000														16			19		0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75148073	75148073	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr11:75148073C>T	uc001owo.4	-	16	2114	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	GDPD5_uc001owp.4_Missense_Mutation_p.R526Q|GDPD5_uc001own.4_Missense_Mutation_p.R281Q|GDPD5_uc009yuc.3_Missense_Mutation_p.R388Q|GDPD5_uc009yud.3_Missense_Mutation_p.R407Q	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	526					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GTTGTAGCTCCGTATGCCACC	0.607000														51			3		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886809	123886809	+	Silent	SNP	C	T	T	rs3017763		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr11:123886809C>T	uc010sac.2	+	0	528	c.528C>T	c.(526-528)taC>taT	p.Y176Y		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCCAGCACTACTTCTGTGACG	0.557000														225			5		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412302	139412302	+	Missense_Mutation	SNP	C	A	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:139412302C>A	uc004chz.3	-	7	1343	c.1343G>T	c.(1342-1344)cGa>cTa	p.R448L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	448	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATCTCGCATCGGGGGCCCGT	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				90			6		5.18039e-06	5.3204e-06	1	1	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	G	G			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612000														17			5		0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130672316	130672316	+	Silent	SNP	G	C	C			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:130672316G>C	uc004bss.3	-	4	909	c.633C>G	c.(631-633)ctC>ctG	p.L211L	ST6GALNAC4_uc004bst.3_Silent_p.L127L	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	211					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						AGCCGGTGCTGAGGAAGGAGC	0.642000														33			14		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:42791757C>T	uc002otf.1	+	4	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(8)|p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612000			"""Mis, F, S"""		oligodendroglioma									20			36		0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8503844	8503844	+	Missense_Mutation	SNP	G	T	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:8503844G>T	uc004csf.3	-	11	1780	c.1630C>A	c.(1630-1632)Ctt>Att	p.L544I		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	544					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ACCTTAGAAAGAACATGACCT	0.483000														36			18		1.66031e-10	1.80262e-10	1	1	0
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	RNA	SNP	G	A	A			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr20:25848606G>A	uc002wvd.1	-	0		c.181C>T								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						atcaccgtccgggcaggcctg	0.672000														10			5		0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	64057543	64057543	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr12:64057543C>T	uc001srp.1	-	2	626	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	DPY19L2_uc009zqk.1_Intron	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	149					multicellular organismal development|spermatid development	integral to membrane		p.E149*(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTAACCATTTCAGTGCGAAAA	0.333000														54			27		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482070	76482070	+	Silent	SNP	C	T	T			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr16:76482070C>T	uc002fex.1	+	3	848	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	CNTNAP4_uc002feu.1_Silent_p.L233L|CNTNAP4_uc002fev.1_Silent_p.L146L|CNTNAP4_uc010chb.1_Silent_p.L209L|CNTNAP4_uc002few.2_Silent_p.L209L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	234	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCACATCACACTGCAATTAAG	0.368000														43			3		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25973090	25973094	+	Frame_Shift_Del	DEL	TTCTT	-	-			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:25973090_25973094delTTCTT	uc002rgs.2	-	10	1552_1556	c.1331_1335delAAGAA	c.(1330-1335)aaagaafs	p.K444fs	ASXL2_uc002rgt.1_Frame_Shift_Del_p.K184fs	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCACACTCTTCTTTTCTGCCTGG	0.473													---	376	---	---	9	---					
FRG2B	441581	broad.mit.edu	37	10	135438960	135438960	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr10:135438960delC	uc010qvg.2	-	3	533	c.480delG	c.(478-480)aggfs	p.R160fs		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	160						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGCCCGAGACCTATGCCGCT	0.557													---	280	---	---	7	---					
GPR19	2842	broad.mit.edu	37	12	12814274	12814274	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr12:12814274delT	uc001rar.3	-	1	1302	c.1109delA	c.(1108-1110)aacfs	p.N370fs	GPR19_uc001raq.2_Frame_Shift_Del_p.N370fs|GPR19_uc021qvj.1_Frame_Shift_Del_p.N370fs	NM_006143	NP_006134	Q15760	GPR19_HUMAN	Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.	370						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GCCAACGTAGTTTTTTTTGGC	0.398													---	197	---	---	8	---					
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	-	-	rs140689079		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr18:51795958_51795960delCGA	uc002lfj.4	+	0	110_112	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_uc010xds.2_In_Frame_Del_p.D17del|POLI_uc002lfk.4_5'UTR|POLI_uc002lfl.1_5'Flank	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	17					DNA repair|DNA replication	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)					---	4	---	---	3	---					
