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
OR7E47P	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	ENST00000546390.1	+	0	765																											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	ENST00000380087.2	-	7	1238	c.878C>T	c.(877-879)gCg>gTg	p.A293V	RBBP7_ENST00000404022.1_Missense_Mutation_p.A284V|RBBP7_ENST00000380084.4_Missense_Mutation_p.A337V			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	293					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|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	+	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.chr1:212798594G>A	ENST00000294829.3	+	1	806	c.375G>A	c.(373-375)agG>agA	p.R125R	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	125										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
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	ENST00000226067.5	+	3	1047	c.574A>C	c.(574-576)Atg>Ctg	p.M192L	HLF_ENST00000573945.1_Missense_Mutation_p.M107L|HLF_ENST00000575345.1_Missense_Mutation_p.M107L|HLF_ENST00000430986.2_Missense_Mutation_p.M107L	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	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	0	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	ENST00000422373.1	-	36	6140	c.5892C>A	c.(5890-5892)ccC>ccA	p.P1964P	FLNA_ENST00000360319.4_Silent_p.P1964P|FLNA_ENST00000369856.3_Silent_p.P105P|FLNA_ENST00000369850.3_Silent_p.P1972P|FLNA_ENST00000344736.4_Silent_p.P1932P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	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	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|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					1.04594e-18	1.18191e-18	1	1	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	ENST00000194900.4	+	11	1885	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	DLG3_ENST00000374360.3_Missense_Mutation_p.R497Q|DLG3_ENST00000542398.1_Missense_Mutation_p.R14Q|DLG3_ENST00000374355.3_Missense_Mutation_p.R160Q			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	497	SH3.				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
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	ENST00000371068.5	+	5	930	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	EFHC1_ENST00000433625.2_Missense_Mutation_p.R185Q|EFHC1_ENST00000538167.1_Missense_Mutation_p.R257Q	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	276	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			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	ENST00000397121.2	-	3	636	c.319A>T	c.(319-321)Act>Tct	p.T107S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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	+	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.chr7:134853626G>A	ENST00000430372.1	-	2	330	c.5C>T	c.(4-6)gCt>gTt	p.A2V	C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000483029.2_Intron|C7orf49_ENST00000459937.1_5'UTR|C7orf49_ENST00000393114.3_Silent_p.L17L	NM_001243751.1|NM_024033.3	NP_001230680.1|NP_076938.2	Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	0						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	ENST00000463781.3	-	2	7528	c.7069G>A	c.(7069-7071)Gac>Aac	p.D2357N	MUC4_ENST00000475231.1_Missense_Mutation_p.D2357N|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	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	ENST00000461745.1	+	5	1690	c.790G>C	c.(790-792)Gac>Cac	p.D264H	ROBO2_ENST00000332191.8_Missense_Mutation_p.D264H|ROBO2_ENST00000487694.3_Missense_Mutation_p.D280H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	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	ENST00000295131.2	-	5	763	c.724A>G	c.(724-726)Att>Gtt	p.I242V		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	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	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262							transcription factor binding	p.Y262F(3)		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	ENST00000312428.6	-	14	1803	c.1703G>C	c.(1702-1704)tGt>tCt	p.C568S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	568	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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
TENM1	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	ENST00000422452.2	-	27	5367	c.5304C>T	c.(5302-5304)ccC>ccT	p.P1768P	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.P1761P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGTGCTCTCCGGGCAATGAGA	0.552000													42	75					0	0	1	0	0
WBP7	0	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	ENST00000222270.7	+	27	5458	c.5458C>T	c.(5458-5460)Ccc>Tcc	p.P1820S	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.P1820S	NM_014727.1	NP_055542.1																					TGGTGAGGACCCCCCACTGGA	0.617000													9	27					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138724667	138724667	+	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.chrX:138724667G>C	ENST00000370576.4	-	1	220	c.11C>G	c.(10-12)gCa>gGa	p.A4G	MCF2_ENST00000370578.4_Intron|MCF2_ENST00000338585.6_Missense_Mutation_p.A4G|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000370573.4_Missense_Mutation_p.A4G|MCF2_ENST00000536274.1_Missense_Mutation_p.A4G|MCF2_ENST00000519895.1_Intron|MCF2_ENST00000520602.1_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	4	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCGGGGATTTGCTTCTGCCAT	0.473000													93	117					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	ENST00000428762.1	-	17	2192	c.2033G>T	c.(2032-2034)tGt>tTt	p.C678F	RELN_ENST00000343529.5_Missense_Mutation_p.C678F|RELN_ENST00000424685.2_Missense_Mutation_p.C678F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	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					1.3612e-06	1.42422e-06	1	1	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	ENST00000441463.2	+	10	1036	c.1036T>A	c.(1036-1038)Tcc>Acc	p.S346T	PDK3_ENST00000379162.4_Missense_Mutation_p.S346T	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	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	ENST00000337080.3	+	3	491	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	ZNF444_ENST00000592949.1_Missense_Mutation_p.R42C	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	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
SSPO	23145	broad.mit.edu	37	7	149518605	149518605	+	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.chr7:149518605G>A	ENST00000378016.2	+	0	12674							A2VEC9	SSPO_HUMAN	SCO-spondin						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
WBP7	0	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	ENST00000222270.7	+	25	5222	c.5222G>A	c.(5221-5223)gGt>gAt	p.G1741D	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.G1741D	NM_014727.1	NP_055542.1																					GACTCCCTGGGTACTCTGTCT	0.627000													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	ENST00000371953.3	+	8	2383		c.e8+2		PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						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 cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain 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	ENST00000306108.5	-	3	862	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	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	ENST00000430939.2	-	6	1030	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	SLC1A6_ENST00000221742.3_Missense_Mutation_p.V365I|SLC1A6_ENST00000600144.1_Intron			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	365					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate 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	ENST00000370724.3	-	3	502	c.258G>T	c.(256-258)caG>caT	p.Q86H	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.Q86H	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	86										endometrium(1)|large_intestine(2)|lung(6)	9						TACCAGGTTTCTGCATCATCC	0.468000													171	198					4.61621e-74	5.43366e-74	1	1	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	ENST00000301364.4	-	12	3035	c.1956G>A	c.(1954-1956)gcG>gcA	p.A652A		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	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	ENST00000268699.4	+	2	211	c.90_splice	c.e2+1	p.Q30_splice	GAS8_ENST00000536122.1_Splice_Site_p.Q5_splice|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	30	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|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
SERPINB4	6318	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	ENST00000341074.5	-	3	318	c.203A>G	c.(202-204)gAa>gGa	p.E68G	SERPINB4_ENST00000356424.6_Missense_Mutation_p.E68G	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGCAGCTTTTTCTGTGGTGTT	0.403000													21	31					0	0	1	0	0
MT-CO1	4512	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	ENST00000361624.2	+	1	1429	c.1429G>A	c.(1429-1431)Gct>Act	p.477_477insT						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						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	ENST00000300303.2	-	4	1222	c.984C>T	c.(982-984)aaC>aaT	p.N328N	NAT16_ENST00000455377.1_Silent_p.N328N	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	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	ENST00000369697.1	-	5	1690	c.1621T>C	c.(1621-1623)Tct>Cct	p.S541P	KCND3_ENST00000315987.2_Missense_Mutation_p.S560P|KCND3_ENST00000302127.4_Missense_Mutation_p.S541P			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	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	ENST00000503176.1	+	6	788	c.627G>C	c.(625-627)aaG>aaC	p.K209N	PDK2_ENST00000007708.3_Missense_Mutation_p.K145N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	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	ENST00000374747.5	-	11	1196	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	NPLOC4_ENST00000539314.1_Missense_Mutation_p.R195Q|NPLOC4_ENST00000331134.6_Missense_Mutation_p.R356Q			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	356					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	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
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	ENST00000309577.6	-	22	3498	c.3335T>C	c.(3334-3336)tTc>tCc	p.F1112S	CHD4_ENST00000544040.1_Missense_Mutation_p.F1105S|CHD4_ENST00000357008.2_Missense_Mutation_p.F1112S|CHD4_ENST00000544484.1_Missense_Mutation_p.F1109S			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1112	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	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	ENST00000446378.2	+	2	926	c.895G>T	c.(895-897)Gtt>Ttt	p.V299F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	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					0.0438628	0.0442544	1	1	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	ENST00000263967.3	+	2	474	c.317G>T	c.(316-318)gGc>gTc	p.G106V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	106	PI3K-ABD.		G -> V (in cancer; shows an increase in lipid kinase activity).		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|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(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					1.26612e-14	1.40266e-14	1	1	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	ENST00000392122.3	-	8	631	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	CD247_ENST00000362089.5_Missense_Mutation_p.R164C|CD247_ENST00000483825.1_5'UTR	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	164					interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|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	ENST00000288304.5	-	7	1250	c.458G>A	c.(457-459)aGa>aAa	p.R153K	DSCR3_ENST00000476950.1_Missense_Mutation_p.E169K|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000398998.1_Missense_Mutation_p.E148K|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000399001.1_Missense_Mutation_p.E71K|DSCR3_ENST00000309117.6_Missense_Mutation_p.E196K|DSCR3_ENST00000539844.1_Missense_Mutation_p.E119K			O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	188					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	ENST00000285968.6	+	38	5325	c.5299C>T	c.(5299-5301)Ctc>Ttc	p.L1767F		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	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
PCDHA2	0	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	ENST00000526136.1	+	1	2058	c.2058C>T	c.(2056-2058)gcC>gcT	p.A686A	PCDHA2_ENST00000378132.1_Silent_p.A686A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.A686A	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGGCGCCGCGGGCTCAG	0.642000													66	113					0	0	1	0	0
DSCR10	0	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	ENST00000432141.1	+	0	685					NR_027695.1																						GAAGGAAAACCTTTATTTTGG	0.398000													80	109					9.59377e-39	1.10622e-38	1	1	0
INTS1	26173	broad.mit.edu	37	7	1527374	1527374	+	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.chr7:1527374C>T	ENST00000389470.4	-	20	2921	c.2922G>A	c.(2920-2922)ccG>ccA	p.P974P	INTS1_ENST00000404767.3_Intron			Q8N201	INT1_HUMAN	integrator complex subunit 1	839					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCGCAGGGCGGGGCTGTGT	0.687000													15	9					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	ENST00000369454.3	-	2	735	c.435C>T	c.(433-435)taC>taT	p.Y145Y		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	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	ENST00000294016.3	-	2	752	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	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	adenylate cyclase activity|ATP binding|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	ENST00000397312.2	-	2	349	c.75T>G	c.(73-75)tgT>tgG	p.C25W	ELAVL2_ENST00000223951.6_Missense_Mutation_p.C25W|ELAVL2_ENST00000380117.1_Missense_Mutation_p.C25W|ELAVL2_ENST00000380110.4_Missense_Mutation_p.C54W|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C25W	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	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	180					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	ENST00000348367.4	-	10	1029	c.832C>T	c.(832-834)Cga>Tga	p.R278*	GPAM_ENST00000369425.1_Nonsense_Mutation_p.R278*|GPAM_ENST00000423155.1_Nonsense_Mutation_p.R278*			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	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													32	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	ENST00000361951.4	+	11	1791	c.1064T>G	c.(1063-1065)tTt>tGt	p.F355C	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	355					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|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	ENST00000268802.5	-	8	874	c.845G>A	c.(844-846)cGa>cAa	p.R282Q		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	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	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor 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(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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	ENST00000392288.2	+	4	1245	c.1136G>A	c.(1135-1137)tGt>tAt	p.C379Y	ZNF493_ENST00000355504.4_Missense_Mutation_p.C251Y|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	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	ENST00000221538.3	-	2	797	c.655G>A	c.(655-657)Gag>Aag	p.E219K	RSPH6A_ENST00000597055.1_Missense_Mutation_p.E219K|RSPH6A_ENST00000600188.1_5'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	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	ENST00000355527.3	-	9	1331	c.1055G>T	c.(1054-1056)cGg>cTg	p.R352L	DHCR7_ENST00000407721.2_Missense_Mutation_p.R352L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	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			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					0.115264	0.115264	1	1	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	ENST00000202816.1	-	2	519	c.412A>T	c.(412-414)Aaa>Taa	p.K138*		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	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	ENST00000382496.5	-	9	1533	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	290	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.E290K(1)		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	ENST00000397333.3	-	10	1579	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	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
FRG1B	0	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	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.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													5	69					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	ENST00000436636.2	-	26	3363	c.3019C>A	c.(3019-3021)Ctt>Att	p.L1007I	TNIK_ENST00000369326.5_Missense_Mutation_p.L985I|TNIK_ENST00000470834.1_Missense_Mutation_p.L970I|TNIK_ENST00000460047.1_Missense_Mutation_p.L944I|TNIK_ENST00000357327.5_Missense_Mutation_p.L978I|TNIK_ENST00000341852.6_Missense_Mutation_p.L923I|TNIK_ENST00000538048.1_Missense_Mutation_p.L959I|TNIK_ENST00000488470.1_Missense_Mutation_p.L952I|TNIK_ENST00000284483.8_Missense_Mutation_p.L999I|TNIK_ENST00000475336.1_Missense_Mutation_p.L915I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1007	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	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					9.2564e-22	1.05654e-21	1	1	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	ENST00000354624.5	+	9	1319	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	HKDC1_ENST00000395086.2_Missense_Mutation_p.R396C|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	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
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	ENST00000324856.7	+	3	1973	c.1602C>G	c.(1600-1602)taC>taG	p.Y534*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Y151*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y534*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	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	nBAF complex|npBAF complex|SWI/SNF 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	311					0	0	1	0	0
HOXB9	3219	broad.mit.edu	37	17	46700472	46700472	+	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.chr17:46700472G>A	ENST00000550387.1	-	2	507	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	HOXB9_ENST00000311177.5_Silent_p.H181H|HOXB7_ENST00000567101.1_Intron			P17482	HXB9_HUMAN	homeobox B9	0					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	ENST00000517970.1	+	18	2192	c.1885T>C	c.(1885-1887)Tgc>Cgc	p.C629R	WWP1_ENST00000265428.4_Missense_Mutation_p.C629R|WWP1_ENST00000341922.2_Missense_Mutation_p.C499R|WWP1_ENST00000349423.2_Missense_Mutation_p.C411R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	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	ENST00000372129.2	-	1	3526	c.3450C>T	c.(3448-3450)gcC>gcT	p.A1150A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1150	Ala-rich.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|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	ENST00000301819.6	+	2	331	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	TTC21A_ENST00000440121.1_Nonsense_Mutation_p.E52*|TTC21A_ENST00000431162.2_Nonsense_Mutation_p.E52*	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	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					3.73148e-12	4.09376e-12	1	1	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	ENST00000482090.1	+	3	1575	c.1157C>A	c.(1156-1158)tCc>tAc	p.S386Y	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.S404Y|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	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					3.86212e-05	3.96745e-05	1	1	0
TRMT10A	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	ENST00000273962.3	-	8	1276	c.964G>C	c.(964-966)Gaa>Caa	p.E322Q	TRMT10A_ENST00000394876.2_Missense_Mutation_p.E322Q|TRMT10A_ENST00000394877.3_Missense_Mutation_p.E322Q	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)																		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	ENST00000338316.4	+	14	1886	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.A419A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	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	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	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).		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|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(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					4.36969e-10	4.74784e-10	1	1	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	ENST00000322810.4	-	31	4920	c.4751G>A	c.(4750-4752)cGg>cAg	p.R1584Q	PLEC_ENST00000354589.3_Missense_Mutation_p.R1447Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1474Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1425Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1415Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1470Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1433Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1447Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1451Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	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	ENST00000244926.3	+	1	152	c.55_splice	c.e1+1	p.Q18_splice	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	18						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						GCTGCTACCAGGGTGAGTACA	0.537000													24	38					9.95505e-16	1.11378e-15	1	1	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	ENST00000342879.3	+	7	1211	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W|FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	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
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	ENST00000394232.1	+	3	1083	c.613C>T	c.(613-615)Cga>Tga	p.R205*	SV2B_ENST00000330276.4_Nonsense_Mutation_p.R205*|SV2B_ENST00000545111.2_Nonsense_Mutation_p.R54*	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	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	ENST00000393020.1	+	16	1742	c.1337C>T	c.(1336-1338)tCg>tTg	p.S446L	TTC12_ENST00000314756.3_Missense_Mutation_p.S446L|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000529221.1_Missense_Mutation_p.S446L|TTC12_ENST00000483239.2_Missense_Mutation_p.S452L			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	446							binding			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	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				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(3)|p.Q2742Q(1)		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	86					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	ENST00000402384.3	-	6	758	c.492G>A	c.(490-492)acG>acA	p.T164T	ICA1_ENST00000406470.2_Silent_p.T164T|ICA1_ENST00000401396.1_Silent_p.T152T|ICA1_ENST00000396675.3_Silent_p.T164T|ICA1_ENST00000407906.1_Silent_p.T164T|ICA1_ENST00000422063.2_Silent_p.T164T|ICA1_ENST00000265577.7_Silent_p.T163T			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	164	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|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	ENST00000357033.4	-	43	6400	c.6194G>T	c.(6193-6195)aGt>aTt	p.S2065I	DMD_ENST00000378677.2_Missense_Mutation_p.S2061I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	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					1.10923e-09	1.19374e-09	1	1	0
GRIA1	0	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	ENST00000285900.5	+	13	2552	c.2209G>A	c.(2209-2211)Gtg>Atg	p.V737M	GRIA1_ENST00000340592.5_Missense_Mutation_p.V737M|GRIA1_ENST00000518783.1_Missense_Mutation_p.V747M|GRIA1_ENST00000521843.2_Missense_Mutation_p.V668M|GRIA1_ENST00000518142.1_Missense_Mutation_p.V657M|GRIA1_ENST00000448073.4_Missense_Mutation_p.V747M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	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	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			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	ENST00000247207.6	+	1	907	c.525C>T	c.(523-525)aaC>aaT	p.N175N	HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000394709.1_Silent_p.N175N	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	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	ENST00000306107.5	+	7	1318	c.818A>G	c.(817-819)aAt>aGt	p.N273S	ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.N222S|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.N273S	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	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	ENST00000373186.4	-	3	621	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	MOCS1_ENST00000432280.2_Missense_Mutation_p.R133W|MOCS1_ENST00000340692.5_Missense_Mutation_p.R162W|MOCS1_ENST00000373175.4_Missense_Mutation_p.R133W|MOCS1_ENST00000425303.2_Missense_Mutation_p.R162W|MOCS1_ENST00000373188.2_Missense_Mutation_p.R162W|MOCS1_ENST00000373195.3_Missense_Mutation_p.R75W|MOCS1_ENST00000308559.7_Missense_Mutation_p.R162W	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	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|catalytic activity|GTP binding|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	ENST00000340345.4	-	1	461	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	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	ENST00000537687.1	+	8	2646	c.2003G>A	c.(2002-2004)cGa>cAa	p.R668Q	WNK1_ENST00000530271.2_Missense_Mutation_p.R668Q|WNK1_ENST00000315939.6_Missense_Mutation_p.R668Q|WNK1_ENST00000535572.1_Missense_Mutation_p.R668Q|WNK1_ENST00000340908.4_Missense_Mutation_p.R261Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	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	ENST00000332710.4	+	4	628	c.499G>A	c.(499-501)Gat>Aat	p.D167N	TBX1_ENST00000359500.3_Missense_Mutation_p.D167N|TBX1_ENST00000329705.7_Missense_Mutation_p.D167N	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	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	ENST00000371514.3	+	4	481	c.313C>G	c.(313-315)Cgc>Ggc	p.R105G	SCP2_ENST00000371513.5_Intron|SCP2_ENST00000371509.4_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.R81G|SCP2_ENST00000528311.1_Missense_Mutation_p.R24G	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	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
PCDHA7	0	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	ENST00000525929.1	+	1	2159	c.2159C>T	c.(2158-2160)gCg>gTg	p.A720V	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A720V	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			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	ENST00000322088.6	+	6	825	c.767C>A	c.(766-768)tCc>tAc	p.S256Y	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S201Y|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S77Y	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	256	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|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 cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|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(11)|p.S256Y(5)		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					1.5842e-08	1.68882e-08	1	1	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	ENST00000366565.1	-	6	750	c.369G>A	c.(367-369)ccG>ccA	p.P123P	RGS7_ENST00000366563.1_Silent_p.P123P|RGS7_ENST00000407727.1_Silent_p.P123P|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366562.4_Silent_p.P123P|RGS7_ENST00000366564.1_Silent_p.P123P|RGS7_ENST00000446183.2_Silent_p.P39P|RGS7_ENST00000331110.7_Silent_p.P97P	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	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			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	ENST00000382496.5	-	20	3402	c.2737G>A	c.(2737-2739)Gtc>Atc	p.V913I		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	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
ESPNP	0	broad.mit.edu	37	1	17018929	17018941	+	RNA	DEL	CGGGGAGGCGCGG	CGGGGAGGCGCGG	-	rs2610627	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.chr1:17018929_17018941delCGGGGAGGCGCGG	ENST00000492551.1	-	0	1938					NR_026567.1																						GTCTGAGATCCGGGGAGGCGCggcggggaggcg	0.723													3	3	---	---	---	---					
RP11-108M9.4	0	broad.mit.edu	37	1	17215847	17215847	+	RNA	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.chr1:17215847delG	ENST00000422124.1	-	0	21																											CGCAAAGAACGGGAAGAACCA	0.667													2	4	---	---	---	---					
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	ENST00000294664.6	+	8	1037		c.e8+2		WDR63_ENST00000326813.8_Intron|WDR63_ENST00000370596.1_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63											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	---	---	---	---					
RP11-417J8.2	0	broad.mit.edu	37	1	142587613	142587613	+	RNA	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.chr1:142587613delA	ENST00000415979.2	-	0	167																											gtcatcttttaaaaaaaatag	0.378													2	4	---	---	---	---					
RP11-417J8.6	0	broad.mit.edu	37	1	142672518	142672519	+	RNA	DEL	AT	AT	-			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.chr1:142672518_142672519delAT	ENST00000369381.2	-	0	2507																											ggcctcactgatcaggTTCCAC	0.584													7	4	---	---	---	---					
SRGAP2B	0	broad.mit.edu	37	1	144011657	144011658	+	RNA	INS	-	-	G	rs66670828		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.chr1:144011657_144011658insG	ENST00000467933.1	+	0	915																											GGttcttttttttgttgtttgt	0.520													6	8	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109259	145109260	+	RNA	INS	-	-	A	rs61810755	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.chr1:145109259_145109260insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										cactccagcccgggggcagagc	0.480													2	4	---	---	---	---					
FER1L5	90342	broad.mit.edu	37	2	97355483	97355483	+	RNA	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	ENST00000457909.1	+	0	1087							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							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	---	---	---	---					
AC131097.3	0	broad.mit.edu	37	2	242931905	242931906	+	RNA	INS	-	-	T	rs140412672		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.chr2:242931905_242931906insT	ENST00000415434.1	+	0	310																											ccatccatccaccatccattat	0.505													3	4	---	---	---	---					
RP11-152K4.2	0	broad.mit.edu	37	5	31193743	31193743	+	RNA	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.chr5:31193743delG	ENST00000523584.1	-	0	125																											GGGGGCGGGCGGGGGCAGGCA	0.567													2	4	---	---	---	---					
RP11-1023L17.1	0	broad.mit.edu	37	5	34189309	34189310	+	RNA	INS	-	-	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.chr5:34189309_34189310insT	ENST00000514048.1	-	0	43																											cacccggccTCttttttttctt	0.515													2	4	---	---	---	---					
RP11-159F24.1	0	broad.mit.edu	37	5	43588182	43588183	+	RNA	DEL	AA	AA	-			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.chr5:43588182_43588183delAA	ENST00000513560.2	-	0	327				RP11-159F24.1_ENST00000503484.1_RNA|RP11-159F24.1_ENST00000500258.2_RNA|RP11-159F24.1_ENST00000515466.1_RNA|RP11-159F24.1_ENST00000606697.1_RNA	NR_073113.1																						actccgtctcaaaaaaaaaaaa	0.530													2	4	---	---	---	---					
RP11-1252I4.2	0	broad.mit.edu	37	5	177406586	177406587	+	RNA	DEL	GA	GA	-	rs70994952		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.chr5:177406586_177406587delGA	ENST00000511650.1	+	0	145																											gtgtgtgtgtgAGAAAGACAGA	0.525													2	4	---	---	---	---					
RP11-554D15.1	0	broad.mit.edu	37	6	75339741	75339742	+	RNA	INS	-	-	CTTTTTCTTTC	rs111286708	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.chr6:75339741_75339742insCTTTTTCTTTC	ENST00000435946.1	+	0	193				RP11-554D15.3_ENST00000432484.2_lincRNA																							ctttctcttttctttctttctt	0.480													5	3	---	---	---	---					
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	ENST00000367255.5	-	55	9250_9251	c.8649_8650insT	c.(8647-8652)ataggafs	p.G2884fs	SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.G2891fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.G2884fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.G2923fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.G2891fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2884					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	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	---	---	---	---					
RP11-561O23.5	0	broad.mit.edu	37	9	70938993	70938994	+	RNA	INS	-	-	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.chr9:70938993_70938994insC	ENST00000429953.2	+	0	1335																											GGGGGGTGCCTCCCCACCTGCT	0.718													3	4	---	---	---	---					
RPLP0P2	0	broad.mit.edu	37	11	61396132	61396132	+	RNA	DEL	T	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.chr11:61396132delT	ENST00000496593.1	+	0	236					NR_002775.2																						tccactgctctttccactgcT	0.532											OREG0021007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
C11orf95	65998	broad.mit.edu	37	11	63533335	63533337	+	RNA	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	ENST00000433688.1	-	0	597_599							C9JLR9	CK095_HUMAN	chromosome 11 open reading frame 95							intracellular	zinc ion binding										ctcctcttcttcctcctcctcct	0.670													2	4	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	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	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	28	---	---	---	---					
RP11-70F11.7	0	broad.mit.edu	37	12	50258497	50258498	+	RNA	DEL	GT	GT	-			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.chr12:50258497_50258498delGT	ENST00000547902.1	+	0	170																											GCCATCCGTGgtgtgtgtgtgt	0.530													2	4	---	---	---	---					
RP11-611E13.2	0	broad.mit.edu	37	12	70508088	70508089	+	RNA	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.chr12:70508088_70508089insA	ENST00000549419.1	-	0	144																											ctaaaaatgttaaaaaaaagac	0.248													3	3	---	---	---	---					
SMIM2-AS1	0	broad.mit.edu	37	13	44752609	44752609	+	RNA	DEL	T	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.chr13:44752609delT	ENST00000437867.1	+	0	219																											AGGCATACTCtttttttttga	0.522													2	4	---	---	---	---					
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	ENST00000267163.4	+	21	2313_2321	c.2175_2183delAACAGCATA	c.(2173-2184)gtc>gt	p.VTAY725del		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	725	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|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|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA 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(2)|p.Y728C(1)|p.C712_A727del(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	---	---	---	---					
RP11-146E13.4	0	broad.mit.edu	37	14	19818287	19818287	+	RNA	DEL	C	C	-	rs111887361		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.chr14:19818287delC	ENST00000548109.1	+	0	72																											gcatgagacacgcaccaccac	0.453													4	4	---	---	---	---					
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	ENST00000298351.4	+	1	68		c.e1+1		RP11-463C8.4_ENST00000557752.1_Intron	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C							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	ENST00000262236.5	+	8	1999	c.1644delG	c.(1642-1644)acfs	p.T549fs	ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000558850.1_Frame_Shift_Del_p.T547fs|ZNF839_ENST00000442396.2_Frame_Shift_Del_p.T663fs|ZNF839_ENST00000559185.1_Frame_Shift_Del_p.T547fs	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	547						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	---	---	---	---					
CTD-2134A5.4	0	broad.mit.edu	37	14	104338382	104338382	+	RNA	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.chr14:104338382delG	ENST00000555967.1	-	0	261																											GGCGTGGTATGGGGGCGTGGC	0.711													2	4	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5572992	5572993	+	RNA	INS	-	-	A	rs113982938	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.chr16:5572992_5572993insA	ENST00000569895.1	+	0	343																											taaagtgctgcaaaatcatggt	0.441													2	4	---	---	---	---					
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	ENST00000264010.4	+	3	821_824	c.377_380delTTGC	c.(376-381)gtfs	p.VA126fs	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	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	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	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.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													2	4	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74398797	74398797	+	RNA	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.chr16:74398797delG	ENST00000429810.2	-	0	176																											CAAAGAAGATGGGGGGAAAAA	0.358													2	4	---	---	---	---					
RP11-370A5.1	0	broad.mit.edu	37	18	20406456	20406457	+	RNA	DEL	GT	GT	-			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.chr18:20406456_20406457delGT	ENST00000583086.1	-	0	84				RP11-739L10.1_ENST00000578831.1_RNA																							CAATGTAGGGgtgtgtgtgtgt	0.386													3	3	---	---	---	---					
RP11-739N10.1	0	broad.mit.edu	37	18	25008614	25008614	+	RNA	DEL	C	C	-	rs36110195		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.chr18:25008614delC	ENST00000584546.1	-	0	447																											agtgcatcatccccagaccaa	0.542													3	3	---	---	---	---					
RP5-1043L13.1	0	broad.mit.edu	37	20	58889426	58889429	+	RNA	DEL	ATCC	ATCC	-			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.chr20:58889426_58889429delATCC	ENST00000432910.1	+	0	332					NR_046099.1																						ccatcctgctatccatccatccat	0.490													2	4	---	---	---	---					
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	ENST00000263253.7	+	1	1267_1268	c.48_49insA	c.(46-51)ccaactfs	p.T17fs		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	17	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|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	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.K17E(1)		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	---	---	---	---