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
bpl_41-16	0	broad.mit.edu	37	12	52501366	52501366	+	RNA	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:52501366C>T	uc009zme.2	+	2		c.765C>T								Homo sapiens olfactory receptor, family 7, subfamily E, member 47 pseudogene, mRNA (cDNA clone IMAGE:5590288).																		TGACTGTGGACATCCAGTCTC	0.547000													8	11					0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16870879	16870879	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:16870879G>A	uc004cxt.3	-	6	1236	c.878C>T	c.(877-879)gCg>gTg	p.A293V	RBBP7_uc004cxs.2_Missense_Mutation_p.A337V|RBBP7_uc010nez.3_3'UTR	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	Homo sapiens retinoblastoma binding protein 7 (RBBP7), transcript variant 2, mRNA.	293					CenH3-containing nucleosome assembly at centromere|DNA replication|cell proliferation|cellular heat acclimation|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AACCTTATCCGCAGAGCCGGT	0.428000													145	93					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798594	212798594	+	RNA	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:212798594G>A	uc010pth.1	-	0		c.1520C>T			FAM71A_uc001hjk.3_Silent_p.R125R			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGCCCCTGAGGTTTGTACGGA	0.527000													19	105					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414329	68414329	+	RNA	SNP	C	C	G	rs146478552		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr9:68414329C>G	uc004aex.3	+	0		c.884C>G								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		aatgattaagcttagtgaaga	0.433000													3	28					0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53392710	53392710	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:53392710A>C	uc002iug.1	+	2	1099	c.574A>C	c.(574-576)Atg>Ctg	p.M192L	HLF_uc010dce.1_Missense_Mutation_p.M107L|HLF_uc002iuh.2_Missense_Mutation_p.M107L|HLF_uc010wni.1_Missense_Mutation_p.M139L	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	192	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						TGGCCAGGAAATGTTTGACCC	0.517000			T	TCF3	ALL								49	23					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153581770	153581770	+	Silent	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:153581770G>T	uc004fkk.2	-	36	6165	c.5916C>A	c.(5914-5916)ccC>ccA	p.P1972P	FLNA_uc011mzn.1_Silent_p.P105P|FLNA_uc010nuu.1_Silent_p.P1964P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1972					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)					AGATGTTGATGGGGATGTCGG	0.637000													40	85					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69699084	69699084	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:69699084G>A	uc004dyi.2	+	9	1837	c.1490G>A	c.(1489-1491)cGa>cAa	p.R497Q	DLG3_uc004dyj.2_Missense_Mutation_p.R160Q|DLG3_uc011mpn.2_Missense_Mutation_p.R14Q	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	497					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGGTCCCTCCGAACAAGTGAA	0.498000													61	96					0	0	1	0	0
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	RNA	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	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													5	19					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52318996	52318996	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:52318996G>A	uc003pap.4	+	4	1042	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	EFHC1_uc011dwv.1_Missense_Mutation_p.R185Q|EFHC1_uc011dww.2_Missense_Mutation_p.R257Q	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	276	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	p.R276*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GTGGAAATTCGAGAGGTCCAC	0.443000													26	92					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364200	22364200	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:22364200T>A	uc002nqs.1	-	2	637	c.319A>T	c.(319-321)Act>Tct	p.T107S		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T106I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTCTGTGTAGTTGTTAAACTC	0.333000													27	40					0	0	1	0	0
C7orf49	78996	broad.mit.edu	37	7	134853626	134853626	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:134853626G>A	uc003vsl.3	-	1	362	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	C7orf49_uc003vsh.3_Missense_Mutation_p.A2V|C7orf49_uc003vsj.3_5'Flank|C7orf49_uc022alz.1_Silent_p.L17L|C7orf49_uc022ama.1_Intron|C7orf49_uc022amb.1_Silent_p.L17L|C7orf49_uc003vsm.3_Silent_p.L17L|C7orf49_uc003vso.3_Intron|C7orf49_uc003vsk.3_Silent_p.L17L	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	17						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TGGGCTGTCAGCCATGAGGGA	0.527000											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	57					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511382	195511382	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:195511382C>T	uc021xjp.1	-	1	7225	c.7069G>A	c.(7069-7071)Gac>Aac	p.D2357N	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	116					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGCGTCGGTGACATGA	0.592000													3	13					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77542517	77542517	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:77542517G>C	uc011bgk.2	+	4	1433	c.790G>C	c.(790-792)Gac>Cac	p.D264H	ROBO2_uc021xat.1_Missense_Mutation_p.D280H|ROBO2_uc003dpy.4_Missense_Mutation_p.D264H|ROBO2_uc003dpz.3_Missense_Mutation_p.D264H|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	264	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGATGATGCAGACTTGCCAAG	0.418000													43	6					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702052	187702052	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:187702052T>C	uc002upu.1	-	4	764	c.724A>G	c.(724-726)Att>Gtt	p.I242V		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	242					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTCCCCTCAATTGGAAACTGT	0.368000													69	17					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:32155509T>A	uc003oav.1	-	4	1056	c.785A>T	c.(784-786)tAt>tTt	p.Y262F	PBX2_uc003oaw.3_Missense_Mutation_p.Y262F	NM_002586	NP_002577	P40425	PBX2_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA.	262							transcription factor binding	p.Y262F(6)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517000													3	35					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196851841	196851841	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:196851841C>G	uc002utj.4	-	13	1804	c.1703G>C	c.(1702-1704)tGt>tCt	p.C568S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	568	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I567I(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGTTTCCCACAAATAATATC	0.328000													6	44					0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123538968	123538968	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:123538968G>A	uc010nqy.3	-	26	5368	c.5304C>T	c.(5302-5304)ccC>ccT	p.P1768P	ODZ1_uc011muj.2_Silent_p.P1767P|ODZ1_uc004euj.3_Silent_p.P1761P	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1761					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TGTGCTCTCCGGGCAATGAGA	0.552000													42	75					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36222829	36222829	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:36222829C>T	uc021usv.1	+	26	5458	c.5458C>T	c.(5458-5460)Ccc>Tcc	p.P1820S	MLL2_uc021usu.1_Missense_Mutation_p.P634S	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	438					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGGTGAGGACCCCCCACTGGA	0.617000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			9	27					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103281026	103281026	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:103281026C>A	uc022ajr.1	-	16	2193	c.2033G>T	c.(2032-2034)tGt>tTt	p.C678F	RELN_uc022ajq.1_Missense_Mutation_p.C678F|RELN_uc010liz.3_Missense_Mutation_p.C678F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	678	EGF-like 1.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTGCCAGAACAGAATTTGAG	0.368000													15	8					0	0	1	0	0
PDK3	5165	broad.mit.edu	37	X	24549846	24549846	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:24549846T>A	uc004dbg.3	+	9	1265	c.1036T>A	c.(1036-1038)Tcc>Acc	p.S346T	PDK3_uc004dbh.3_Missense_Mutation_p.S346T	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	346	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAAACTGTATTCCATGGAAGG	0.358000													78	118					0	0	1	0	0
ZNF444	55311	broad.mit.edu	37	19	56658404	56658404	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:56658404C>T	uc002qmm.3	+	2	512	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	ZNF444_uc002qmn.2_Missense_Mutation_p.R42C	NM_018337	NP_060807	Q8N0Y2	ZN444_HUMAN	Homo sapiens zinc finger protein 444 (ZNF444), transcript variant 1, mRNA.	42	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GGGGCTGCTCCGCGCCCTGTG	0.746000													12	10					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414225	68414225	+	RNA	SNP	C	C	T	rs36153972		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr9:68414225C>T	uc004aex.3	+	0		c.780C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		GAGGGTGACACCCACCAGGGG	0.552000													4	18					0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285184	44285184	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr10:44285184C>A	uc010qfe.1	-	0	682	c.652G>T	c.(652-654)Ggt>Tgt	p.G218C						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		CCAGATCCACCTCCACGACCC	0.488000													8	62					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149518605	149518605	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:149518605G>A	uc010lpk.3	+	87	12665	c.12665G>A	c.(12664-12666)gGg>gAg	p.G4222E	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4225					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCACCCTGGGGGACAGCTGG	0.721000													4	6					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36221463	36221463	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:36221463G>A	uc021usv.1	+	24	5222	c.5222G>A	c.(5221-5223)gGt>gAt	p.G1741D	MLL2_uc021usu.1_Missense_Mutation_p.G555D	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5189					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GACTCCCTGGGTACTCTGTCT	0.627000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			128	161					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89720877	89720877	+	Splice_Site	SNP	T	T	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr10:89720877T>G	uc001kfb.3	+	8	2058	c.1026_splice	c.e8+2	p.K342_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	342	C2 tensin-type.		K -> N (in CD; reduced phosphatase activity towards Ins(1,3,4,5)P4 but PtdIns(3,4,5)P3 phosphatase activity is similar to wild-type).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.?(1)|p.G165_*404del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AATTTTAAGGTCAGTTAAATT	0.323000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			7	30					0	0	1	0	0
TRMT61B	55006	broad.mit.edu	37	2	29084138	29084138	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:29084138C>T	uc002rmm.3	-	2	871	c.839G>A	c.(838-840)cGa>cAa	p.R280Q		NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	Homo sapiens tRNA methyltransferase 61 homolog B (S. cerevisiae) (TRMT61B), mRNA.	280							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GTGGTCTTTTCGTACCTCAAA	0.318000													9	33					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15067364	15067364	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:15067364C>T	uc002naa.1	-	5	1100	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.V301I	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	365					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)	CGGTGAGTGACGAGGAAGTAG	0.617000													19	27					0	0	1	0	0
CT45A5	441521	broad.mit.edu	37	X	134948067	134948067	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:134948067C>A	uc004eze.3	-	2	503	c.258G>T	c.(256-258)caG>caT	p.Q86H	CT45A5_uc022ces.1_Missense_Mutation_p.Q86H|CT45A5_uc011mvu.2_Missense_Mutation_p.Q86H	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN	Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.	86										endometrium(1)|large_intestine(2)|lung(6)	9						TACCAGGTTTCTGCATCATCC	0.468000													171	198					0	0	1	0	0
TSR1	55720	broad.mit.edu	37	17	2228662	2228662	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:2228662C>T	uc002fuj.3	-	11	2913	c.1956G>A	c.(1954-1956)gcG>gcA	p.A652A		NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA.	652					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CATAGACTGTCGCCACCAGGG	0.453000													7	33					0	0	1	0	0
GAS8	2622	broad.mit.edu	37	16	90094129	90094129	+	Splice_Site	SNP	A	A	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:90094129A>G	uc002fqi.1	+	2	212	c.90_splice	c.e2+1	p.Q30_splice	GAS8_uc010vps.1_Splice_Site_p.Q5_splice|GAS8_uc002fqh.2_Splice_Site|GAS8_uc010vpt.1_Splice_Site_p.Q30_splice|GAS8_uc010vpu.1_Splice_Site|GAS8_uc010vpv.1_Intron|GAS8_uc010cjc.1_Splice_Site|GAS8_uc010vpw.1_Splice_Site|GAS8_uc002fqj.1_Splice_Site	NM_001481	NP_001472	O95995	GAS8_HUMAN	Homo sapiens growth arrest-specific 8 (GAS8), transcript variant 1, mRNA.	30	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	Golgi apparatus|cilium|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGCAAGGAGCAGGTGAGCAGA	0.612000													29	28					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61310414	61310414	+	Missense_Mutation	SNP	T	T	C	rs149334777		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr18:61310414T>C	uc002ljf.3	-	2	289	c.203A>G	c.(202-204)gAa>gGa	p.E68G	SERPINB3_uc002lje.3_Missense_Mutation_p.E68G|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	68					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.G68E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGCAGCTTTTTCTGTGGTGTT	0.403000													21	31					0	0	1	0	0
BC018860	0	broad.mit.edu	37	MT	7332	7332	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrM:7332G>A	uc011mfh.2	+	0	1432	c.431G>A	c.(430-432)cGc>cAc	p.R144H	JA429830_uc022bqp.1_5'Flank|JA429831_uc022bqq.1_5'Flank|JA429505_uc022bqr.1_5'Flank|OK/SW-cl.16_uc011mfi.2_5'Flank|AD_1_uc022bqu.1_5'Flank					Homo sapiens cDNA: FLJ22894 fis, clone KAT04907.																		GAGAAGCCTTCGCTTCGAAGC	0.423000													84	10					0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100815486	100815486	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:100815486G>A	uc003uxy.2	-	3	1223	c.984C>T	c.(982-984)aaC>aaT	p.N328N	NAT16_uc003uxz.2_Silent_p.N328N	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	Homo sapiens N-acetyltransferase 16 (GCN5-related, putative) (NAT16), mRNA.	328							N-acetyltransferase activity										GGCACATGACGTTGAGGCCAA	0.642000													16	37					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112319736	112319736	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:112319736A>G	uc001ebu.1	-	6	2158	c.1678T>C	c.(1678-1680)Tct>Cct	p.S560P	KCND3_uc001ebv.1_Missense_Mutation_p.S541P	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	560						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGCAGGTTAGAATTGGGCAGG	0.592000													15	71					0	0	1	0	0
PDK2	5164	broad.mit.edu	37	17	48184459	48184459	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:48184459G>C	uc002iqc.3	+	5	788	c.627G>C	c.(625-627)aaG>aaC	p.K209N	PDK2_uc002iqb.3_Missense_Mutation_p.K145N|PDK2_uc021tzx.1_Missense_Mutation_p.K145N	NM_002611	NP_001186828	Q15119	PDK2_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 2 (PDK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	209	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						ACATGGCTAAGCTCCTGTGTG	0.562000									Autosomal Dominant Polycystic Kidney Disease				13	81					0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79563195	79563195	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:79563195C>T	uc002kau.3	-	10	1249	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	NPLOC4_uc002kat.4_Missense_Mutation_p.R356Q|NPLOC4_uc010wur.1_Missense_Mutation_p.R195Q	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	356					ER-associated protein catabolic process|Golgi organization|cellular membrane fusion	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGAGAGAGCCGGCACATGTT	0.443000													57	20					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475600	75475600	+	Splice_Site	SNP	C	C	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:75475600C>G	uc003dpp.4	-	7	996	c.637_splice	c.e7+1	p.G213_splice	FAM86DP_uc003dps.4_Splice_Site|FAM86DP_uc003dpq.4_Splice_Site_p.G121_splice|FAM86DP_uc003dpr.4_Splice_Site					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.																		TGGGGGCTCACCTAGCTCGGT	0.642000													4	115					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6700637	6700637	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:6700637A>G	uc001qpo.3	-	21	3499	c.3335T>C	c.(3334-3336)tTc>tCc	p.F1112S	CHD4_uc001qpn.3_Missense_Mutation_p.F1105S|CHD4_uc001qpp.3_Missense_Mutation_p.F1109S	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1112	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CTCACCATTGAAGCGGTCAAT	0.428000													47	17					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79025483	79025483	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:79025483G>T	uc003kgc.3	+	1	967	c.895G>T	c.(895-897)Gtt>Ttt	p.V299F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	299						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTAAAAGAGGTTTTTCCACC	0.408000													16	44					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916930	178916930	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:178916930G>T	uc003fjk.3	+	1	474	c.317G>T	c.(316-318)gGc>gTc	p.G106V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	106	PI3K-ABD.		G -> V (in cancer; shows an increase in lipid kinase activity).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G106V(12)|p.G106_R108del(4)|p.G106_R108delGNR(3)|p.G106R(2)|p.E103_G106>D(2)|p.G106A(2)|p.P104_G106>R(1)|p.G106G(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAACCAGTAGGCAACCGTGAA	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			33	11					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414698	68414698	+	RNA	SNP	C	C	T	rs146228556		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr9:68414698C>T	uc004aex.3	+	0		c.1253C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		ctttgggaggctgaggatcac	0.418000													4	16					0	0	1	0	0
CD247	919	broad.mit.edu	37	1	167400923	167400923	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:167400923G>A	uc001gei.4	-	7	635	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	CD247_uc001gej.4_Missense_Mutation_p.R163C	NM_198053	NP_932170	P20963	CD3Z_HUMAN	Homo sapiens CD247 molecule (CD247), transcript variant 1, mRNA.	164					T cell costimulation|T cell receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			GGCTGTTAGCGAGGGGGCAGG	0.537000													16	93					0	0	1	0	0
DSCR3	10311	broad.mit.edu	37	21	38600596	38600596	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr21:38600596C>T	uc002ywf.1	-	5	824	c.586G>A	c.(586-588)Gag>Aag	p.E196K	DSCR3_uc010gnm.1_Non-coding_Transcript|DSCR3_uc010gnn.1_Missense_Mutation_p.E154K|DSCR3_uc010gnl.2_Missense_Mutation_p.E169K|DSCR3_uc011aeg.1_Missense_Mutation_p.E119K|DSCR3_uc011aeh.1_Missense_Mutation_p.E71K	NM_006052	NP_006043	O14972	DSCR3_HUMAN	Homo sapiens Down syndrome critical region gene 3 (DSCR3), mRNA.	196					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ACCACCAGCTCTCCCGTTAGT	0.557000													25	47					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135323338	135323338	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:135323338C>T	uc003vsw.3	+	37	5330	c.5299C>T	c.(5299-5301)Ctc>Ttc	p.L1767F		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1767					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGCCAGTCACTCATGTTACA	0.408000													37	94					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176607	140176607	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:140176607C>T	uc003lhd.2	+	0	2164	c.2058C>T	c.(2056-2058)gcC>gcT	p.A686A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.A686A|PCDHAC2_uc011czy.2_Silent_p.A686A	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	695	Cadherin 6.				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)			GGGTGGGCGCCGCGGGCTCAG	0.642000													66	113					0	0	1	0	0
DSCR10	259234	broad.mit.edu	37	21	39580563	39580563	+	RNA	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr21:39580563C>A	uc010gnt.2	+	2		c.685C>A								Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA.																		GAAGGAAAACCTTTATTTTGG	0.398000													80	110					0	0	1	0	0
RAB39B	116442	broad.mit.edu	37	X	154490295	154490295	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	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													52	64					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4165230	4165230	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:4165230G>A	uc002cvx.3	-	1	753	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	72					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGCGCAGCCGGCCTCCGCCG	0.677000													7	19					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762158	23762158	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr9:23762158A>C	uc003zpu.3	-	1	350	c.75T>G	c.(73-75)tgT>tgG	p.C25W	ELAVL2_uc003zps.3_Missense_Mutation_p.C25W|ELAVL2_uc003zpt.3_Missense_Mutation_p.C25W|ELAVL2_uc003zpv.3_Missense_Mutation_p.C25W|ELAVL2_uc003zpw.3_Missense_Mutation_p.C25W	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	25					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTGGTGACGAACAGTTGTTGT	0.438000													8	181					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113928673	113928673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr10:113928673G>A	uc009xxy.2	-	9	1042	c.832C>T	c.(832-834)Cga>Tga	p.R278*	GPAM_uc001kzp.3_Nonsense_Mutation_p.R278*|GPAM_uc001kzq.1_Nonsense_Mutation_p.R278*	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	278					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TCGAGCCTTCGTCGTATGAAG	0.378000													33	16					0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173810047	173810047	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:173810047T>G	uc001gjh.2	+	10	1635	c.1064T>G	c.(1063-1065)tTt>tGt	p.F355C		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	Homo sapiens aspartyl-tRNA synthetase 2, mitochondrial (DARS2), nuclear gene encoding mitochondrial protein, mRNA.	355					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	ATP binding|aspartate-tRNA ligase activity|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GAGATTGGATTTCTTCAAGAT	0.338000													11	47					0	0	1	0	0
NOB1	28987	broad.mit.edu	37	16	69778900	69778900	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:69778900C>T	uc002exs.3	-	7	861	c.845G>A	c.(844-846)cGa>cAa	p.R282Q		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	282						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGAACACTCGGCTCATGTC	0.577000													8	27					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			42	8					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606597	21606597	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:21606597G>A	uc002npw.3	+	3	1255	c.1136G>A	c.(1135-1137)tGt>tAt	p.C379Y	ZNF493_uc002npx.3_Missense_Mutation_p.C251Y|ZNF493_uc002npy.3_Missense_Mutation_p.C251Y|ZNF493_uc021urq.1_Missense_Mutation_p.C251Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCCTACAAATGTGAAGAATGT	0.368000													6	44					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46314094	46314094	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:46314094C>T	uc002pdm.3	-	1	826	c.655G>A	c.(655-657)Gag>Aag	p.E219K	RSPH6A_uc002pdl.3_5'UTR	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	219						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ACCAGGTGCTCGTACCTGCCT	0.627000													7	14					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71146794	71146794	+	Missense_Mutation	SNP	C	C	A	rs121909768	by1000genomes	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr11:71146794C>A	uc001oqk.3	-	8	1305	c.1055G>T	c.(1054-1056)cGg>cTg	p.R352L	DHCR7_uc001oql.3_Missense_Mutation_p.R352L	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	352			R -> Q (in SLOS).|R -> W (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.R352R(1)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GTTGGCCACCCGGAAGATGTA	0.667000									Smith-Lemli-Opitz syndrome				3	38					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13763375	13763375	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr20:13763375T>A	uc002woj.3	-	1	520	c.412A>T	c.(412-414)Aaa>Taa	p.K138*	ESF1_uc002wok.1_Nonsense_Mutation_p.K138*|NDUFAF5_uc002woo.3_5'Flank|NDUFAF5_uc002wom.3_5'Flank|NDUFAF5_uc002won.3_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	138	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTCATTTTTTTAATTCCTATA	0.259000													7	21					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9202131	9202131	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:9202131C>T	uc003jek.2	-	8	1580	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	290	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.E290K(2)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTCTGCAATTCGTTGTAGTAA	0.478000													20	40					0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132625180	132625180	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:132625180C>T	uc001ujy.4	-	9	1580	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	514	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGAGTTCTCTCGGGAGTTAGT	0.642000													14	60					0	0	1	0	0
GSTM2P1	442245	broad.mit.edu	37	6	111368246	111368246	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:111368246G>A	uc003puq.3	-	0	512	c.377C>T	c.(376-378)gCg>gTg	p.A126V						Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA.																		GATGCCATACGCGATGAAATC	0.498000													7	102					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170802094	170802094	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:170802094G>T	uc003fhh.2	-	25	3364	c.3019C>A	c.(3019-3021)Ctt>Att	p.L1007I	TNIK_uc003fhi.2_Missense_Mutation_p.L952I|TNIK_uc003fhj.2_Missense_Mutation_p.L978I|TNIK_uc003fhk.2_Missense_Mutation_p.L999I|TNIK_uc003fhl.2_Missense_Mutation_p.L923I|TNIK_uc003fhm.2_Missense_Mutation_p.L944I|TNIK_uc003fhn.2_Missense_Mutation_p.L970I|TNIK_uc003fho.2_Missense_Mutation_p.L915I|TNIK_uc003fhg.2_Missense_Mutation_p.L185I|TNIK_uc003fhp.3_5'Flank	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1007	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCTTGCCTAAGAAGTTCGCTA	0.398000													67	16					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71007270	71007270	+	Missense_Mutation	SNP	C	C	T	rs139689016		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr10:71007270C>T	uc001jpf.4	+	8	1319	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	HKDC1_uc010qje.2_Missense_Mutation_p.R259C	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	396					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CATCCTGACACGCCTCCGGGA	0.607000													12	67					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413581	68413581	+	RNA	SNP	G	G	C	rs1809619		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr9:68413581G>C	uc004aex.3	+	0		c.136G>C								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CCGGATCTAGGAAAGGTTGTG	0.602000													5	37					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057894	27057894	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:27057894C>G	uc001bmv.1	+	2	1975	c.1602C>G	c.(1600-1602)taC>taG	p.Y534*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Y534*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Y534*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Y151*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	534					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CGGCTCCATACCCCTCCCAGC	0.632000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								230	313					0	0	1	0	0
HOXB9	3219	broad.mit.edu	37	17	46700472	46700472	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:46700472G>A	uc002inx.3	-	1	747	c.543C>T	c.(541-543)caC>caT	p.H181H		NM_024017	NP_076922	P17482	HXB9_HUMAN	Homo sapiens homeobox B9 (HOXB9), mRNA.	181					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						AAGAGCGAGCGTGCAGCCAGT	0.547000													24	105					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87454894	87454894	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr8:87454894T>C	uc003ydt.3	+	17	2165	c.1885T>C	c.(1885-1887)Tgc>Cgc	p.C629R	WWP1_uc010mai.3_Missense_Mutation_p.C405R	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	629	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CCCAATGTATTGCTTATTTGA	0.323000													3	36					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107976125	107976125	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:107976125G>A	uc004eoc.2	-	0	3483	c.3450C>T	c.(3448-3450)gcC>gcT	p.A1150A		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	1150	Ala-rich.					plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CAGCAGCTGCGGCTGCTGCGC	0.657000													25	164					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39150702	39150702	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:39150702G>T	uc003cjc.2	+	1	331	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	GORASP1_uc003civ.1_5'Flank|GORASP1_uc003ciw.1_5'Flank|GORASP1_uc003cix.1_5'Flank|GORASP1_uc003ciy.1_5'Flank|GORASP1_uc011ayw.1_5'Flank|GORASP1_uc003ciz.1_5'Flank|TTC21A_uc003cja.3_Nonsense_Mutation_p.E52*|TTC21A_uc010hho.2_Nonsense_Mutation_p.E52*|TTC21A_uc003cjb.3_Nonsense_Mutation_p.E52*|TTC21A_uc011ayx.1_Nonsense_Mutation_p.E52*|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	52							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGTCCTCAAAGAAGGTAAGGA	0.502000													31	4					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	A	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000													7	34					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060050	12060050	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:12060050C>A	uc010xme.2	+	4	1456	c.1265C>A	c.(1264-1266)tCc>tAc	p.S422Y	ZNF700_uc002msu.3_Missense_Mutation_p.S404Y|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTTTCCAGTTCCTTTCGATAT	0.423000													11	52					0	0	1	0	0
RG9MTD2	93587	broad.mit.edu	37	4	100470301	100470301	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr4:100470301C>G	uc003huy.3	-	7	1277	c.964G>C	c.(964-966)Gaa>Caa	p.E322Q	RG9MTD2_uc003huz.4_Missense_Mutation_p.E322Q|RG9MTD2_uc003hva.4_Missense_Mutation_p.E322Q	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	322							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		TCCTGCTTTTCTTCATGTGGT	0.403000													10	61					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7727300	7727300	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:7727300G>A	uc003jdz.1	+	13	1864	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A	ADCY2_uc011cmo.1_Silent_p.A419A	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	599					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CACTGCCAGCGTTCAAGTATT	0.502000													25	44					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:25398284C>A	uc001rgp.1	-	1	216	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	1					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144999757	144999757	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr8:144999757C>T	uc003zaf.1	-	30	4921	c.4751G>A	c.(4750-4752)cGg>cAg	p.R1584Q	PLEC_uc003zab.1_Missense_Mutation_p.R1447Q|PLEC_uc003zac.1_Missense_Mutation_p.R1451Q|PLEC_uc003zad.2_Missense_Mutation_p.R1447Q|PLEC_uc003zae.1_Missense_Mutation_p.R1415Q|PLEC_uc003zag.1_Missense_Mutation_p.R1425Q|PLEC_uc003zah.2_Missense_Mutation_p.R1433Q|PLEC_uc003zaj.2_Missense_Mutation_p.R1474Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1584	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GATGCGCAGCCGGCTGCGCTC	0.711000													24	2					0	0	1	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62009833	62009833	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr11:62009833G>T	uc001ntb.3	+	1	111	c.55_splice	c.e1+1	p.A19_splice		NM_006551	NP_006542	O95969	SG1D2_HUMAN	Homo sapiens secretoglobin, family 1D, member 2 (SCGB1D2), mRNA.	19						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						GCTGCTACCAGGGTGAGTACA	0.537000													24	38					0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35657174	35657174	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:35657174C>T	uc010xsq.2	+	7	521	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	FXYD5_uc002nyg.2_Missense_Mutation_p.R145W|FXYD5_uc021usk.1_Missense_Mutation_p.R145W|FXYD5_uc002nyh.2_Missense_Mutation_p.R145W|FXYD5_uc021usl.1_Missense_Mutation_p.R145W|FXYD5_uc002nyi.2_Missense_Mutation_p.R82W|FXYD5_uc002nyj.1_5'Flank	NM_144779	NP_659003	Q96DB9	FXYD5_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcript variant 1, mRNA.	145					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTCCGGAAACGGGGGCTGTT	0.552000													55	105					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439185	14439185	+	RNA	SNP	C	C	A	rs112098339		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr21:14439185C>A	uc002yja.4	+	9		c.2703C>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TGACTTTAAACCAAGAAGAAG	0.269000													8	33					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91795210	91795210	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr15:91795210C>T	uc002bqv.3	+	3	1504	c.613C>T	c.(613-615)Cga>Tga	p.R205*	SV2B_uc002bqt.3_Nonsense_Mutation_p.R205*|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Nonsense_Mutation_p.R54*	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	205					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCTCTTCTGCCGACTCATCTC	0.557000													19	13					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113222820	113222820	+	Missense_Mutation	SNP	C	C	T	rs147647661		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr11:113222820C>T	uc001pnv.3	+	15	1460	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	TTC12_uc001pnu.3_Missense_Mutation_p.S446L|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.S296L	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	446							binding	p.C451C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGCAGCTCCTCGGCTCTGTGC	0.542000													12	19					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:132547138A>G	uc001ujn.3	+	46	8378	c.8226A>G	c.(8224-8226)caA>caG	p.Q2742Q	EP400_uc021rgq.1_Silent_p.Q2741Q|EP400_uc001ujm.3_Silent_p.Q2661Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2778	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(6)|p.Q2742Q(3)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													4	87					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8258022	8258022	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:8258022C>T	uc003sro.4	-	5	628	c.492G>A	c.(490-492)acG>acA	p.T164T	ICA1_uc010ktr.3_Silent_p.T164T|ICA1_uc003srm.3_Silent_p.T164T|ICA1_uc003srn.4_Silent_p.T90T|ICA1_uc003srq.3_Silent_p.T164T|ICA1_uc003srr.3_Silent_p.T163T|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Silent_p.T164T	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	164	AH.				neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CTCTATATTCCGTCCTGCACT	0.478000													40	72					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32305742	32305742	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:32305742C>A	uc004dda.1	-	42	6438	c.6194G>T	c.(6193-6195)aGt>aTt	p.S2065I	DMD_uc004dcw.2_Missense_Mutation_p.S721I|DMD_uc004dcx.2_Missense_Mutation_p.S724I|DMD_uc004dcz.2_Missense_Mutation_p.S1942I|DMD_uc004dcy.1_Missense_Mutation_p.S2061I|DMD_uc004ddb.1_Missense_Mutation_p.S2057I|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_Non-coding_Transcript	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2065					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGCGTTGCACTTTGCAATGC	0.388000													23	54					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149914	153149914	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:153149914G>A	uc011dcy.2	+	12	2266	c.2239G>A	c.(2239-2241)Gtg>Atg	p.V747M	GRIA1_uc003lva.4_Missense_Mutation_p.V737M|GRIA1_uc003luy.4_Missense_Mutation_p.V737M|GRIA1_uc003luz.4_Missense_Mutation_p.V642M|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.V657M|GRIA1_uc011dcx.2_Missense_Mutation_p.V668M|GRIA1_uc011dcz.2_Missense_Mutation_p.V747M	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	737					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CACCATGAAGGTGGGAGGTAA	0.502000													22	41					0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65008092	65008092	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr14:65008092C>T	uc001xhj.3	+	1	601	c.525C>T	c.(523-525)aaC>aaT	p.N175N	HSPA2_uc001xhk.4_Silent_p.N175N	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	175					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GCATCATCAACGAGCCCACGG	0.652000													49	83					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105258906	105258906	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:105258906A>G	uc003dvx.3	+	6	1514	c.818A>G	c.(817-819)aAt>aGt	p.N273S	ALCAM_uc003dvw.2_Missense_Mutation_p.N273S|ALCAM_uc003dvy.3_Missense_Mutation_p.N273S|ALCAM_uc011bhh.1_Missense_Mutation_p.N222S|ALCAM_uc010hpp.3_Intron	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	273	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGCTTAGGGAATGGCAACCCT	0.398000													40	8					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39883911	39883911	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:39883911G>A	uc003opb.3	-	2	622	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	MOCS1_uc003opa.3_Missense_Mutation_p.R162W|MOCS1_uc003opd.3_Missense_Mutation_p.R162W|MOCS1_uc003ope.3_Missense_Mutation_p.R75W	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	162	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCAGTAGCCGGGCCAGGTTG	0.572000													15	30					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654815	31654815	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr21:31654815G>A	uc002ynv.3	-	0	462	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	146						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GAACCGTTGCGGAGGGTTTGG	0.498000													27	65					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	971300	971300	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:971300G>A	uc021qss.1	+	7	2646	c.2003G>A	c.(2002-2004)cGa>cAa	p.R668Q	WNK1_uc001qio.4_Missense_Mutation_p.R668Q|WNK1_uc021qst.1_Missense_Mutation_p.R668Q|WNK1_uc001qip.4_Missense_Mutation_p.R668Q|WNK1_uc001qir.4_Missense_Mutation_p.R115Q	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	668					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACAGAATCTCGAGTGAGCAGC	0.468000													38	22					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19750852	19750852	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr22:19750852G>A	uc002zqa.1	+	3	628	c.499G>A	c.(499-501)Gat>Aat	p.D167N	TBX1_uc002zqb.3_Missense_Mutation_p.D167N|TBX1_uc002zqc.3_Missense_Mutation_p.D167N	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	167					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GCCGGTGGACGATAAGCGCTA	0.612000													31	35					0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53416540	53416540	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:53416540C>G	uc001cur.2	+	3	481	c.313C>G	c.(313-315)Cgc>Ggc	p.R105G	SCP2_uc010ono.2_Missense_Mutation_p.R24G|SCP2_uc010onp.2_Missense_Mutation_p.R81G|SCP2_uc009vzi.2_Intron|SCP2_uc001cus.2_5'UTR|SCP2_uc001cuq.2_Intron	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	105					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GTTTATGGCCCGCCAGCTGAT	0.403000													57	32					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413599	68413599	+	RNA	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr9:68413599C>A	uc004aex.3	+	0		c.154C>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		GTGCCTTTTGCTGAAACTCTG	0.602000													3	32					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414374	68414374	+	RNA	SNP	T	T	A	rs113343881		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr9:68414374T>A	uc004aex.3	+	0		c.929T>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		aagtcaacacttggcttcaga	0.423000													3	23					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140216127	140216127	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:140216127C>T	uc003lhq.2	+	0	2159	c.2159C>T	c.(2158-2160)gCg>gTg	p.A720V	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_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.A720V	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	728					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)			CTGTACACGGCGTTGCGGTGC	0.617000													70	45					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52716323	52716323	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:52716323C>A	uc002pyp.3	+	5	1062	c.767C>A	c.(766-768)tCc>tAc	p.S256Y	PPP2R1A_uc010ydk.2_Missense_Mutation_p.S201Y|PPP2R1A_uc010epm.1_Missense_Mutation_p.S296Y|PPP2R1A_uc002pyq.3_Missense_Mutation_p.S77Y	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	256	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.S256F(22)|p.S256Y(10)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAAGACAAGTCCTGGCGCGTC	0.617000			Mis		clear cell ovarian carcinoma								14	36					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241094033	241094033	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:241094033C>T	uc001hyv.2	-	5	699	c.369G>A	c.(367-369)ccG>ccA	p.P123P	RGS7_uc010pyh.2_Silent_p.P97P|RGS7_uc010pyj.1_Silent_p.P39P|RGS7_uc001hyu.2_Silent_p.P123P|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Silent_p.P123P	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	123					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.E122*(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTGTGTTTTCCGGCTCCCAAC	0.388000													115	41					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052093	9052093	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:9052093C>T	uc003jek.2	-	19	3449	c.2737G>A	c.(2737-2739)Gtc>Atc	p.V913I		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	913	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CGGACTTGGACGCCAGAGGCT	0.602000													6	16					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85555917	85555918	+	Splice_Site	INS	-	-	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:85555917_85555918insA	uc001dkt.3	+	8	1048	c.857_splice	c.e8+2	p.S286_splice	WDR63_uc009wcl.3_Intron	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	286										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATCCATAAGGTAAAAAATTGCa	0.267													17	16	---	---	---	---					
FER1L5	90342	broad.mit.edu	37	2	97355483	97355483	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:97355483delA	uc010fia.3	+	24	2613	c.2613delA	c.(2611-2613)ccafs	p.P871fs	FER1L5_uc002sws.4_5'UTR|FER1L5_uc010fib.1_5'Flank	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	871						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCGCCATCCCAAACACAGACG	0.642													2	4	---	---	---	---					
SYNE1	23345	broad.mit.edu	37	6	152706811	152706812	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:152706811_152706812insA	uc021zhb.1	-	52	8872_8873	c.8649_8650insT	c.(8647-8652)attaagfs	p.I2883fs	SYNE1_uc003qot.4_Frame_Shift_Ins_p.I2890fs|SYNE1_uc003qou.4_Frame_Shift_Ins_p.I2883fs|SYNE1_uc010kjb.1_Frame_Shift_Ins_p.I2866fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2883					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCTGACCTTAATTTTTGATA	0.356										HNSCC(10;0.0054)			24	44	---	---	---	---					
C11orf95	65998	broad.mit.edu	37	11	63533335	63533337	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr11:63533335_63533337delTCC	uc010rmv.2	-	1	598_600	c.579_581delGGA	c.(577-582)gaggaa>gaa	p.193_194EE>E	C11orf95_uc001nxs.3_In_Frame_Del_p.79_80EE>E	NM_001144936	NP_001138408	C9JLR9	CK095_HUMAN	Homo sapiens chromosome 11 open reading frame 95 (C11orf95), mRNA.	193	Glu-rich.					intracellular	zinc ion binding										ctcctcttcttcctcctcctcct	0.670													2	4	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs36063533		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:7080212_7080213insC	uc001qsh.4	+	1	269	c.126_splice	c.e1+1	p.S42_splice	PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	42					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	28	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49037935	49037943	+	In_Frame_Del	DEL	AACAGCATA	AACAGCATA	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr13:49037935_49037943delAACAGCATA	uc001vcb.3	+	20	2341_2349	c.2175_2183delAACAGCATA	c.(2173-2184)gtaacagcatac>gtc	p.TAY726del		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	726	Domain B.|Pocket; binds T and E1A.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.I703_E737del(4)|p.Y728C(2)|p.C712_A727del(2)|p.Y728*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAATCATTGTAACAGCATACAAGGATCTT	0.301		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			28	3	---	---	---	---					
TMEM63C	57156	broad.mit.edu	37	14	77648238	77648240	+	Splice_Site	DEL	GTG	GTG	-	rs35484514		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr14:77648238_77648240delGTG	uc001xtf.2	+	1	136	c.-76_splice	c.e1+1		TMEM63C_uc010asq.1_Splice_Site	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.							integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GGACGCAAATGTGGTGAGCACGC	0.734													5	2	---	---	---	---					
ZNF839	55778	broad.mit.edu	37	14	102807718	102807718	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr14:102807718delG	uc010awk.1	+	7	1993	c.1986delG	c.(1984-1986)acgfs	p.T662fs	ZNF839_uc001ylo.2_Frame_Shift_Del_p.T546fs|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Intron|ZNF839_uc001ylr.2_Frame_Shift_Del_p.T471fs|ZNF839_uc001yls.2_Frame_Shift_Del_p.T163fs|ZNF839_uc001ylt.2_Frame_Shift_Del_p.T136fs	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	Homo sapiens zinc finger protein 839 (ZNF839), mRNA.	546						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCCATACAACGACGGTTTCTG	0.527													22	51	---	---	---	---					
CTCF	10664	broad.mit.edu	37	16	67645112	67645115	+	Frame_Shift_Del	DEL	TTGC	TTGC	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:67645112_67645115delTTGC	uc002etl.3	+	2	821_824	c.377_380delTTGC	c.(376-381)gttgctfs	p.V126fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	126					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ACTGTACCTGTTGCTACCACTTCA	0.436													38	48	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41489056	41489057	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr22:41489056_41489057insA	uc003azl.4	+	0	443_444	c.48_49insA	c.(46-51)cctaaafs	p.P16fs		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	16	Interaction with ALX1.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding	p.K17E(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAAGCGGCCTAAACTCTCATC	0.550			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				72	114	---	---	---	---					
