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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
BSPRY	54836	broad.mit.edu	37	9	116116526	116116526	+	Missense_Mutation	SNP	A	G	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:116116526A>G	uc004bhg.4	+	1	256	c.208A>G	c.(208-210)Att>Gtt	p.I70V	BSPRY_uc010muw.3_Missense_Mutation_p.I70V	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	70					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCAGAACAAGATTGTGGACCA	0.507													0	1	0	0	0	35	30
CALCR	799	broad.mit.edu	37	7	93055811	93055811	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:93055811C>T	uc003umv.2	-	15	1684	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.A428T|CALCR_uc003umw.2_Missense_Mutation_p.A428T	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	444					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.I462I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCGGCTGCAGCGCGAGCAGAG	0.592													0	1	0	0	0	88	46
TTC38	55020	broad.mit.edu	37	22	46669963	46669963	+	Missense_Mutation	SNP	A	G	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr22:46669963A>G	uc003bhi.3	+	3	438	c.362A>G	c.(361-363)aAt>aGt	p.N121S	TTC38_uc011aqx.2_Missense_Mutation_p.N121S	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	121							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ACATTTGCCAATGGGTGAGGG	0.632													0	1	0	0	0	38	4
ZBTB49	166793	broad.mit.edu	37	4	4322849	4322849	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr4:4322849G>A	uc003ghu.3	+	7	2279	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	ZBTB49_uc003ghv.3_Missense_Mutation_p.E185K|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Missense_Mutation_p.E280K	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGCCGGTGGCGAACCACTGCA	0.602													0	1	0	0	0	68	3
ATP6V0B	533	broad.mit.edu	37	1	44442971	44442971	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:44442971C>T	uc001clf.3	+	5	1436	c.533C>T	c.(532-534)cCt>cTt	p.P178L	ATP6V0B_uc001cld.3_Intron|ATP6V0B_uc001cle.3_Intron|B4GALT2_uc001clg.3_5'Flank|B4GALT2_uc001clh.3_5'Flank|B4GALT2_uc010okl.2_5'Flank			Q99437	VATO_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b (ATP6V0B), transcript variant 1, mRNA.	116					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AAGTGCTCTCCTTCTCTACCT	0.478													0	1	0	0	0	9	5
NIN	51199	broad.mit.edu	37	14	51192784	51192784	+	Splice_Site	SNP	C	T	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr14:51192784C>T	uc001wyi.3	-	30	6270	c.6079_splice	c.e30-1	p.G2027_splice	NIN_uc001wyj.3_Splice_Site|NIN_uc001wym.2_Splice_Site_p.G2027_splice|NIN_uc001wyk.3_Splice_Site_p.G1314_splice	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	2027					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCCTGGTTTCCCTGAAGGGAA	0.378			T	PDGFRB	MPD								0	1	0	0	0	36	19
HNF4A	3172	broad.mit.edu	37	20	43043255	43043255	+	Missense_Mutation	SNP	T	A	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr20:43043255T>A	uc002xma.3	+	4	690	c.601T>A	c.(601-603)Tgg>Agg	p.W201R	HNF4A_uc002xlt.3_Missense_Mutation_p.W179R|HNF4A_uc002xlu.3_Missense_Mutation_p.W179R|HNF4A_uc002xlv.3_Missense_Mutation_p.W179R|HNF4A_uc002xly.3_Missense_Mutation_p.W201R|HNF4A_uc010ggq.3_Missense_Mutation_p.W194R|HNF4A_uc002xlz.3_Missense_Mutation_p.W201R	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	201					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.E200K(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCTCGTTGAGTGGGCCAAGTA	0.622													0	1	0	0	0	32	5
CNRIP1	25927	broad.mit.edu	37	2	68544345	68544345	+	Missense_Mutation	SNP	C	T	T	rs34128476	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr2:68544345C>T	uc002sek.4	-	1	925	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	CNRIP1_uc002sej.4_Missense_Mutation_p.E92K|CNRIP1_uc010fdd.1_Missense_Mutation_p.E92K	NM_015463	NP_056278	Q96F85	CNRP1_HUMAN	Homo sapiens cannabinoid receptor interacting protein 1 (CNRIP1), transcript variant CRIP1a, mRNA.	92							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						GTCACACCTTCTGTGTCATAT	0.493													0	1	0	0	0	72	38
MRPL23	6150	broad.mit.edu	37	11	1977593	1977593	+	Silent	SNP	G	A	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:1977593G>A	uc001lux.3	+	4	496	c.405G>A	c.(403-405)caG>caA	p.Q135Q		NM_021134	NP_066957	Q16540	RM23_HUMAN	Homo sapiens mitochondrial ribosomal protein L23 (MRPL23), nuclear gene encoding mitochondrial protein, mRNA.	135					translation	mitochondrial large ribosomal subunit	RNA binding|nucleotide binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGGAGAGGCAGCAGAGGCAGA	0.682													0	1	0	0	0	81	4
NAV1	89796	broad.mit.edu	37	1	201779154	201779154	+	Silent	SNP	G	A	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:201779154G>A	uc021phi.1	+	22	4829	c.4482G>A	c.(4480-4482)gtG>gtA	p.V1494V	NAV1_uc001gwu.3_Silent_p.V1491V|NAV1_uc001gwx.3_Silent_p.V1100V	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1494					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCAGCCACGTGAAACGAGTGT	0.517													0	1	0	0	0	139	15
ALDH5A1	7915	broad.mit.edu	37	6	24505158	24505158	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr6:24505158C>T	uc003nef.3	+	3	699	c.671C>T	c.(670-672)aCt>aTt	p.T224I	ALDH5A1_uc003neg.3_Missense_Mutation_p.T224I	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	224					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GCCGGCTGTACTGTCGTGGTG	0.592													0	1	0	0	0	102	79
SLIT1	6585	broad.mit.edu	37	10	98816982	98816982	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:98816982T>C	uc001kmw.2	-	11	1394	c.1142A>G	c.(1141-1143)tAc>tGc	p.Y381C	SLIT1_uc009xvh.1_Missense_Mutation_p.Y391C	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	381					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGTAGGGTGTATAGGCCTCC	0.572													0	1	0	0	0	62	3
ACTA1	58	broad.mit.edu	37	1	229568532	229568532	+	Silent	SNP	G	A	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:229568532G>A	uc001htm.3	-	2	330	c.225C>T	c.(223-225)caC>caT	p.H75H		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	75			H -> L (in NEM3).|H -> R (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGATGATGCCGTGCTCGATAG	0.582													0	1	0	0	0	200	4
MKLN1	4289	broad.mit.edu	37	7	131073683	131073683	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:131073683A>T	uc011kpm.2	+	3	416	c.352A>T	c.(352-354)Aag>Tag	p.K118*	MKLN1_uc011kpl.2_Nonsense_Mutation_p.K95*|MKLN1_uc010lmh.2_Nonsense_Mutation_p.K118*|MKLN1_uc003vqs.3_5'UTR	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	118					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATTCACCTTGAAGCATAAAAT	0.299													0	1	0	0	0	20	9
TTL	150465	broad.mit.edu	37	2	113251935	113251935	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr2:113251935C>T	uc002thu.3	+	2	631	c.452C>T	c.(451-453)tCa>tTa	p.S151L		NM_153712	NP_714923	Q8NG68	TTL_HUMAN	Homo sapiens tubulin tyrosine ligase (TTL), mRNA.	151	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATTGCAAAGTCATCAGCCGGT	0.428			T	ETV6	ALL								0	1	0	0	0	35	16
SLC1A6	6511	broad.mit.edu	37	19	15063783	15063783	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr19:15063783G>A	uc002naa.1	-	7	1463	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S	SLC1A6_uc010dzu.1_Missense_Mutation_p.P408S|SLC1A6_uc010xod.1_Missense_Mutation_p.P422S	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	486					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCTTCCGTGGGCAAGCCGACC	0.612													0	1	0	0	0	213	4
LMLN	89782	broad.mit.edu	37	3	197746190	197746190	+	Silent	SNP	G	A	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr3:197746190G>A	uc010iar.3	+	12	1432	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	LMLN_uc003fyt.3_Silent_p.Q418Q|LMLN_uc011buo.2_Silent_p.Q433Q|LMLN_uc010ias.3_Silent_p.Q381Q|LMLN_uc003fyu.3_Silent_p.Q230Q	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	433					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTTGCAGACAGGACCAGAGAG	0.488													0	1	0	0	0	105	3
SETD5	55209	broad.mit.edu	37	3	9517666	9517666	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr3:9517666C>T	uc003brt.3	+	22	4655	c.4220C>T	c.(4219-4221)gCg>gTg	p.A1407V	SETD5_uc003bru.3_Missense_Mutation_p.A1309V|SETD5_uc003brv.3_Missense_Mutation_p.A1296V|SETD5_uc010hck.3_Missense_Mutation_p.A889V|SETD5_uc003brx.3_Missense_Mutation_p.A1076V	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1407	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGGGTATCTGCGGTTTCCAAT	0.567													0	1	0	0	0	40	15
PRMT3	10196	broad.mit.edu	37	11	20409654	20409654	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:20409654G>A	uc001mqb.3	+	1	335	c.118G>A	c.(118-120)Gat>Aat	p.D40N	PRMT3_uc001mqc.3_Intron|PRMT3_uc010rdn.2_Intron	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	40							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GGACGATGCAGATCTCCCCCA	0.677													0	1	0	0	0	94	3
BC018860	0	broad.mit.edu	37	M	6984	6984	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrM:6984T>C	uc011mfh.2	+	0	1084	c.83T>C	c.(82-84)cTc>cCc	p.L28P	JA429830_uc022bqp.1_5'Flank|JA429831_uc022bqq.1_5'Flank|JA429505_uc022bqr.1_5'Flank|OK/SW-cl.16_uc011mfi.2_5'Flank					Homo sapiens cDNA: FLJ22894 fis, clone KAT04907.																		TATTAGCAAACTCATCACTAG	0.453													0	1	0	0	0	21	5
RELT	84957	broad.mit.edu	37	11	73105583	73105583	+	Missense_Mutation	SNP	G	A	A	rs146155880		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:73105583G>A	uc001otv.3	+	8	1015	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	RELT_uc001otw.3_Missense_Mutation_p.V284M|RELT_uc001otx.3_Non-coding_Transcript	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.	284						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TCTCCACACCGTGCAGGGCCT	0.697													0	1	0	0	0	146	4
BCL9	607	broad.mit.edu	37	1	147084886	147084886	+	Missense_Mutation	SNP	G	T	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:147084886G>T	uc001epq.3	+	4	998	c.258G>T	c.(256-258)aaG>aaT	p.K86N	BCL9_uc010ozr.1_Intron	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	86					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGGGGCTGAAGAATGGGGCTG	0.592			T	"""IGH@, IGL@"""	B-ALL								1.96E-10	1	1.96E-10	0	1	50	20
MED31	51003	broad.mit.edu	37	17	6553677	6553677	+	Splice_Site	SNP	A	G	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr17:6553677A>G	uc002gdg.4	-	2	212	c.106_splice	c.e2+1	p.F36_splice	MED31_uc002gdh.4_Splice_Site|C17orf100_uc010clp.1_5'Flank	NM_016060	NP_057144	Q9Y3C7	MED31_HUMAN	Homo sapiens mediator complex subunit 31 (MED31), mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			cervix(1)|endometrium(1)|large_intestine(1)	3						ACAACTTACAATTAAGGTAAT	0.353													0	1	0	0	0	185	6
GRIK3	2899	broad.mit.edu	37	1	37356590	37356590	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:37356590G>A	uc001caz.2	-	1	358	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	GRIK3_uc001cba.1_Missense_Mutation_p.P75S	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	75					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTTGTGTTGGGCAGCAGAGTC	0.527													0	1	0	0	0	215	5
MAGED2	10916	broad.mit.edu	37	X	54841926	54841926	+	Silent	SNP	T	C	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrX:54841926T>C	uc004dtk.1	+	11	1726	c.1632T>C	c.(1630-1632)agT>agC	p.S544S	MAGED2_uc004dtl.1_Silent_p.S544S|MAGED2_uc004dtm.1_Silent_p.S459S|MAGED2_uc004dtn.1_Silent_p.S544S|MAGED2_uc004dto.1_Silent_p.S518S	NM_177433	NP_957516	Q9UNF1	MAGD2_HUMAN	Homo sapiens melanoma antigen family D, 2 (MAGED2), transcript variant 2, mRNA.	544										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CCCAAGAGAGTGGcagtgcca	0.617													0	1	0	0	0	11	4
PDZD2	23037	broad.mit.edu	37	5	32089285	32089285	+	Missense_Mutation	SNP	A	G	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr5:32089285A>G	uc003jhl.3	+	19	6119	c.5731A>G	c.(5731-5733)Acg>Gcg	p.T1911A	PDZD2_uc003jhm.3_Missense_Mutation_p.T1911A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1911					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGCTGGGGGGACGGACCACAG	0.582													0	1	0	0	0	154	3
MPDZ	8777	broad.mit.edu	37	9	13125351	13125351	+	Silent	SNP	T	C	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:13125351T>C	uc010mia.1	-	33	4728	c.4671A>G	c.(4669-4671)aaA>aaG	p.K1557K	MPDZ_uc003zky.4_Silent_p.K119K|MPDZ_uc010mib.3_Silent_p.K262K|MPDZ_uc010mhx.3_Silent_p.K379K|MPDZ_uc011lmm.2_Silent_p.K416K|MPDZ_uc003zkz.4_Silent_p.K250K|MPDZ_uc010mhz.3_Silent_p.K1524K|MPDZ_uc011lmn.2_Silent_p.K1524K|MPDZ_uc010mhy.3_Silent_p.K1557K|MPDZ_uc003zlb.4_Silent_p.K1557K	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1557	PDZ 9.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGATGGTAAGTTTTACTGTCA	0.443													0	1	0	0	0	32	29
TNKS	8658	broad.mit.edu	37	8	9609296	9609296	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr8:9609296G>A	uc003wss.3	+	18	3015	c.3010G>A	c.(3010-3012)Gta>Ata	p.V1004I	TNKS_uc011kww.2_Missense_Mutation_p.V767I|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1004					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAGTTGGCCGTAGGAGGAGC	0.542													0	1	0	0	0	172	4
MSI1	4440	broad.mit.edu	37	12	120794808	120794808	+	Missense_Mutation	SNP	T	G	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr12:120794808T>G	uc001tye.1	-	8	613	c.549A>C	c.(547-549)aaA>aaC	p.K183N		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	183	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGCTGAGCTTTCTTACATT	0.542											OREG0022190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	1	0	0	0	55	9
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	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	0.368	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				0	1	0	0	0	59	25
COL5A1	1289	broad.mit.edu	37	9	137721851	137721851	+	Silent	SNP	C	T	T	rs138396959		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:137721851C>T	uc004cfe.3	+	63	5479	c.5097C>T	c.(5095-5097)aaC>aaT	p.N1699N	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1699	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.E1698*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAAAGAAAACCCGGGCTCCT	0.537													0	1	0	0	0	21	5
GALT	2592	broad.mit.edu	37	9	34647938	34647938	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:34647938G>A	uc003zve.3	+	4	554	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	GALT_uc003zvf.3_Missense_Mutation_p.A54T|GALT_uc011lop.1_Missense_Mutation_p.A115T|IL11RA_uc003zvi.3_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.	163					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGAGCTGGGTGCCCAGTACCC	0.587									Galactosemia				0	1	0	0	0	44	30
JMJD1C	221037	broad.mit.edu	37	10	64967938	64967938	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:64967938delG	uc001jmn.3	-	9	3791	c.3491delC	c.(3490-3492)ccafs	p.P1164fs	JMJD1C_uc001jml.3_Frame_Shift_Del_p.P945fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.P876fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.P982fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.P982fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Frame_Shift_Del_p.P201fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1164					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAGATGTTCTGGTATCTTGCC	0.388																		183	92
