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
COL11A1	1301	broad.mit.edu	37	1	103461591	103461591	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:103461591G>A	ENST00000358392.2	-	27	2602	c.2285C>T	c.(2284-2286)cCt>cTt	p.P762L	COL11A1_ENST00000370096.3_Missense_Mutation_p.P750L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P634L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P711L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	750	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGTGGACCAGGGGGACCCTG	0.358000													23	87					0	0	0.667858	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375146	8375146	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr12:8375146G>C	ENST00000538603.1	-	7	1225	c.667C>G	c.(667-669)Ctc>Gtc	p.L223V	FAM90A1_ENST00000307435.6_Missense_Mutation_p.L223V	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	223							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ACCACGAGGAGAGGCTCGGGG	0.647000													33	57					0	0	0.804634	0	0
LTBP1	4052	broad.mit.edu	37	2	33623487	33623487	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr2:33623487T>C	ENST00000404816.2	+	34	5394	c.5041T>C	c.(5041-5043)Tgc>Cgc	p.C1681R	LTBP1_ENST00000354476.3_Missense_Mutation_p.C1682R|LTBP1_ENST00000390003.4_Missense_Mutation_p.C1356R|LTBP1_ENST00000404525.1_Missense_Mutation_p.C1302R|LTBP1_ENST00000418533.2_Missense_Mutation_p.C1313R|LTBP1_ENST00000402934.1_Missense_Mutation_p.C1300R|LTBP1_ENST00000407925.1_Missense_Mutation_p.C1355R|LTBP1_ENST00000272273.5_Missense_Mutation_p.C579R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1681	EGF-like 18; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAATGCCAAGTGCATTAACAC	0.438000													40	50					0	0	0.847076	0	0
FAM104B	90736	broad.mit.edu	37	X	55172659	55172659	+	Missense_Mutation	SNP	A	A	G	rs5018687	by1000genomes	TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chrX:55172659A>G	ENST00000425133.2	-	3	247	c.209T>C	c.(208-210)aTt>aCt	p.I70T	FAM104B_ENST00000358460.4_Missense_Mutation_p.I69T|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.I68T|FAM104B_ENST00000332132.4_Missense_Mutation_p.I70T|FAM104B_ENST00000477847.2_Missense_Mutation_p.I66T	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	69								p.I70T(2)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TTCAGTAACAATCTGGTTTAA	0.458000													3	81					0	0	0.217242	0	0
DPY19L4	286148	broad.mit.edu	37	8	95802031	95802031	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr8:95802031G>A	ENST00000414645.2	+	19	2164	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	689						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTTTGTCATGAGGTCAAAAT	0.303000													98	188					0	0	0.870114	0	0
BOC	91653	broad.mit.edu	37	3	112993314	112993314	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr3:112993314A>G	ENST00000495514.1	+	9	2031	c.1327A>G	c.(1327-1329)Agg>Ggg	p.R443G	BOC_ENST00000355385.3_Missense_Mutation_p.R443G|BOC_ENST00000273395.4_Missense_Mutation_p.R443G			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	443					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCAGATGCTGAGGGGGCAACC	0.652000													36	36					0	0	0.804634	0	0
CDAN1	146059	broad.mit.edu	37	15	43023151	43023151	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr15:43023151T>C	ENST00000356231.3	-	13	2002	c.1979A>G	c.(1978-1980)cAg>cGg	p.Q660R		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	660						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AATGGAGTCCTGAAGCTCACC	0.607000													4	132					0	0	0.150653	0	0
POLR2L	5441	broad.mit.edu	37	11	840466	840466	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr11:840466G>T	ENST00000322028.4	-	2	146	c.110C>A	c.(109-111)gCc>gAc	p.A37D		NM_021128.4	NP_066951.1	P62875	RPAB5_HUMAN	polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa	37					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			lung(1)	1		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGCCCAGGGCATCCAGCGC	0.622000													41	75					7.53189e-24	8.60788e-24	0.834066	1	0
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr17:7578550G>T	ENST00000420246.2	-	5	512	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_ENST00000413465.2_Missense_Mutation_p.S127Y|TP53_ENST00000455263.2_Missense_Mutation_p.S127Y|TP53_ENST00000445888.2_Missense_Mutation_p.S127Y|TP53_ENST00000359597.4_Missense_Mutation_p.S127Y|TP53_ENST00000269305.4_Missense_Mutation_p.S127Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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)		GAGGGCAGGGGAGTACTGTAG	0.552000		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)			21	29					1.01871e-10	1.10504e-10	0.575678	1	0
AFF4	27125	broad.mit.edu	37	5	132269985	132269985	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr5:132269985G>A	ENST00000265343.5	-	3	1151	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	AFF4_ENST00000378595.3_Missense_Mutation_p.R258W|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	258	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.R258W(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCATGGGCCGCACATAGGCA	0.517000													4	95					0	0	0.150653	0	0
NKTR	4820	broad.mit.edu	37	3	42676726	42676726	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr3:42676726C>G	ENST00000232978.8	+	12	1219	c.1031C>G	c.(1030-1032)cCt>cGt	p.P344R	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	344					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TATCACACACCTCCAAGATCA	0.398000													31	9					0	0	0.760397	0	0
AJUBA	84962	broad.mit.edu	37	14	23445688	23445688	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr14:23445688A>T	ENST00000262713.2	-	4	1591	c.1216T>A	c.(1216-1218)Tgt>Agt	p.C406S	AJUBA_ENST00000397388.3_5'UTR|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.C406S	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	406	LIM zinc-binding 2.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										AAGTGACCACAGACACAGCAT	0.453000													114	61					0	0	0.870114	0	0
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608	by1000genomes	TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	704					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657000													3	24					0	0	0.150653	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120282	62120282	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr20:62120282T>G	ENST00000217182.3	-	7	1418	c.1253A>C	c.(1252-1254)tAc>tCc	p.Y418S	EEF1A2_ENST00000298049.7_Missense_Mutation_p.Y418S	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	418						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.Y418S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GAGAGGCGGGTACTGGGAGAA	0.667000													10	31					0	0	0.608945	0	0
NT5E	4907	broad.mit.edu	37	6	86197162	86197162	+	Silent	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr6:86197162C>T	ENST00000257770.3	+	5	1108	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NT5E_ENST00000369651.3_Silent_p.C353C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	353					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CTCAATCATGCCGCTTTAGAG	0.413000													5	185					0	0	0.248553	0	0
CDK11A	728642	broad.mit.edu	37	1	1650803	1650803	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:1650803C>G	ENST00000356200.3	-	3	451	c.217G>C	c.(217-219)Gaa>Caa	p.E73Q	CDK11A_ENST00000378633.1_Missense_Mutation_p.E107Q|CDK11A_ENST00000357760.2_Missense_Mutation_p.E107Q|CDK11A_ENST00000378638.2_Missense_Mutation_p.E73Q|CDK11A_ENST00000378635.3_Missense_Mutation_p.E107Q|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Missense_Mutation_p.E107Q|CDK11A_ENST00000404249.3_Missense_Mutation_p.E107Q					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CTACATTTTTCTTTTCTCTTT	0.388000													38	128					0	0	0.870114	0	0
PLK4	10733	broad.mit.edu	37	4	128812740	128812740	+	Missense_Mutation	SNP	A	A	G	rs11552117		TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr4:128812740A>G	ENST00000270861.5	+	9	2216	c.1942A>G	c.(1942-1944)Att>Gtt	p.I648V	PLK4_ENST00000513090.1_Missense_Mutation_p.I616V|PLK4_ENST00000514379.1_Missense_Mutation_p.I607V|PLK4_ENST00000515069.1_Missense_Mutation_p.I570V|PLK4_ENST00000507249.1_Missense_Mutation_p.I587V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	648					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GCAGATCACTATTTATTATCC	0.338000													53	97					0	0	0.870114	0	0
SP8	221833	broad.mit.edu	37	7	20825289	20825289	+	Silent	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr7:20825289G>A	ENST00000361443.4	-	3	330	c.93C>T	c.(91-93)caC>caT	p.H31H	SP8_ENST00000418710.2_Silent_p.H49H	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	31	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GTTTCCAGGGGTGGAAGCCTT	0.617000													21	42					0	0	0.608945	0	0
AMER1	139285	broad.mit.edu	37	X	63412939	63412939	+	Silent	SNP	T	T	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chrX:63412939T>C	ENST00000330258.3	-	2	500	c.228A>G	c.(226-228)ggA>ggG	p.G76G	AMER1_ENST00000403336.1_Silent_p.G76G|AMER1_ENST00000374869.3_Silent_p.G76G	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CTTTGCTCCGTCCCCCTCCAA	0.537000													3	74					0	0	0.184627	0	0
ISL2	64843	broad.mit.edu	37	15	76633517	76633517	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr15:76633517C>G	ENST00000290759.4	+	5	998	c.838C>G	c.(838-840)Ccc>Gcc	p.P280A	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	280						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GGCGGGCAGTCCCATCCGCCA	0.657000													15	29					0	0	0.520397	0	0
KIF2C	11004	broad.mit.edu	37	1	45206652	45206652	+	Silent	SNP	A	A	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:45206652A>C	ENST00000372224.4	+	2	251	c.138A>C	c.(136-138)gcA>gcC	p.A46A	KIF2C_ENST00000372218.4_Silent_p.A46A|KIF2C_ENST00000493027.1_3'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	46	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TGGAATGGGCAGAAGGAGGTG	0.413000													11	11					0	0	0.457914	0	0
ABCB4	5244	broad.mit.edu	37	7	87051469	87051469	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr7:87051469C>T	ENST00000265723.4	-	18	2395	c.2284G>A	c.(2284-2286)Gga>Aga	p.G762R	ABCB4_ENST00000358400.3_Missense_Mutation_p.G762R|ABCB4_ENST00000545634.1_Missense_Mutation_p.G762R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G762R|ABCB4_ENST00000359206.3_Missense_Mutation_p.G762R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	762	ABC transmembrane type-1 2.		G -> E (in ICP).		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GAAATAATTCCCAGAAATAAG	0.318000													3	15					0	0	0.115264	0	0
SACS	26278	broad.mit.edu	37	13	23906082	23906082	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr13:23906082A>C	ENST00000382298.3	-	10	12521	c.11933T>G	c.(11932-11934)cTt>cGt	p.L3978R	SACS_ENST00000402364.1_Missense_Mutation_p.L3228R|SACS_ENST00000382292.3_Missense_Mutation_p.L3978R	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3978					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTGTTCTTCAAGTATACTGCT	0.398000													23	79					0	0	0.654019	0	0
ROR2	4920	broad.mit.edu	37	9	94519560	94519560	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr9:94519560G>A	ENST00000375708.3	-	3	655	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	ROR2_ENST00000375715.1_Missense_Mutation_p.R13W|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	153					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCACCCAGCCGCACAAACAGG	0.537000													4	123					0	0	0.150653	0	0
RYR1	6261	broad.mit.edu	37	19	38991629	38991629	+	Splice_Site	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr19:38991629C>T	ENST00000355481.4	+	47	7744	c.7614_splice	c.e47+1	p.T2538_splice	RYR1_ENST00000360985.3_Splice_Site_p.T2538_splice|RYR1_ENST00000359596.3_Splice_Site_p.T2538_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2538	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCGCTGGACACGGTGAGCAAC	0.612000													8	14					0	0	0.361761	0	0
PREX1	57580	broad.mit.edu	37	20	47244457	47244457	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr20:47244457C>T	ENST00000371941.3	-	38	4833	c.4811G>A	c.(4810-4812)cGg>cAg	p.R1604Q	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1604					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCCGTGGCTCCGTGCCAAGAT	0.692000													11	30					0	0	0.411799	0	0
CUBN	8029	broad.mit.edu	37	10	16942822	16942822	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr10:16942822G>A	ENST00000377833.4	-	53	8277	c.8212C>T	c.(8212-8214)Ccc>Tcc	p.P2738S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2738	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTGTATGGGGTTCAATATCA	0.433000													3	29					0	0	0.115264	0	0
NKTR	4820	broad.mit.edu	37	3	42680280	42680280	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr3:42680280G>T	ENST00000232978.8	+	13	3272	c.3084G>T	c.(3082-3084)gaG>gaT	p.E1028D	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1028					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGGAGGAGGAGGAGATTGATG	0.358000													48	22					2.74695e-27	3.19645e-27	0.870114	1	0
IGKV1D-12	28903	broad.mit.edu	37	2	90199155	90199155	+	RNA	SNP	G	G	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr2:90199155G>T	ENST00000390276.2	+	0	497																											TGAAGATTTTGCAACTTACTA	0.517000													83	32					2.73867e-56	3.30707e-56	0.870114	1	0
MSRB1	51734	broad.mit.edu	37	16	1991308	1991308	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr16:1991308C>T	ENST00000361871.3	-	2	323	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	MSRB1_ENST00000399753.2_Missense_Mutation_p.A52T|MSRB1_ENST00000489198.1_5'UTR|MSRB1_ENST00000564908.1_Missense_Mutation_p.A52T	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN	methionine sulfoxide reductase B1	52					protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding									L-Methionine(DB00134)	ACGCTGTCGGCGTGAATGGTC	0.622000													7	50					0	0	0.248553	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	53					0	0	0.184627	0	0
CYLD	1540	broad.mit.edu	37	16	50816274	50816274	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr16:50816274A>T	ENST00000540145.1	+	11	2138	c.1723A>T	c.(1723-1725)Act>Tct	p.T575S	CYLD_ENST00000398568.2_Missense_Mutation_p.T572S|CYLD_ENST00000568704.2_Missense_Mutation_p.T390S|CYLD_ENST00000566206.1_Missense_Mutation_p.T572S|CYLD_ENST00000311559.9_Missense_Mutation_p.T575S|CYLD_ENST00000564326.1_Missense_Mutation_p.T572S|CYLD_ENST00000569418.1_Missense_Mutation_p.T572S|CYLD_ENST00000427738.3_Missense_Mutation_p.T575S			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	575	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGAAGAAAATACTCCACCAAA	0.303000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				12	21					0	0	0.387290	0	0
SUSD1	64420	broad.mit.edu	37	9	114886703	114886703	+	Silent	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr9:114886703G>A	ENST00000374270.3	-	6	892	c.720C>T	c.(718-720)ggC>ggT	p.G240G	SUSD1_ENST00000374263.3_Silent_p.G240G|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374264.2_Silent_p.G240G	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	240	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTGGAGGGTTGCCACAGTTGA	0.483000													76	39					0	0	0.870114	0	0
ZNF282	8427	broad.mit.edu	37	7	148909533	148909533	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr7:148909533G>A	ENST00000262085.3	+	6	1141	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	ZNF282_ENST00000479907.1_Missense_Mutation_p.D346N	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	346					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GGATTTGGCAGACAGAGATAT	0.453000													3	31					0	0	0.115264	0	0
OR1N1	138883	broad.mit.edu	37	9	125288894	125288894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr9:125288894G>A	ENST00000304880.2	-	1	678	c.679C>T	c.(679-681)Cga>Tga	p.R227*		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	227			R -> Q (in dbSNP:rs58226717).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R227*(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCACGGGTTCGGACCCTCAGG	0.542000													44	31					0	0	0.853193	0	0
CYP27C1	339761	broad.mit.edu	37	2	127958736	127958736	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr2:127958736C>T	ENST00000335247.7	-	3	480	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	CYP27C1_ENST00000409327.1_Missense_Mutation_p.R117Q	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	117						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GCAGAATTCCCGCCAGGGCTT	0.522000													64	118					0	0	0.870114	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559714	140559714	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr5:140559714C>T	ENST00000239444.2	+	1	2344	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		700					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCTTCGCTCTTCCTC	0.672000													134	38					0	0	0.870114	0	0
SECISBP2	79048	broad.mit.edu	37	9	91972404	91972404	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr9:91972404G>A	ENST00000375807.3	+	15	2263	c.2192G>A	c.(2191-2193)cGc>cAc	p.R731H	SECISBP2_ENST00000534113.2_Missense_Mutation_p.R663H|SECISBP2_ENST00000339901.4_Missense_Mutation_p.R658H	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	731					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GCTCTCAACCGCAAAGCTCTG	0.507000													6	205					0	0	0.217242	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866589	106866589	+	RNA	SNP	C	C	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr14:106866589C>A	ENST00000390618.2	-	0	242																											CCTGGCGGATCCAGCTCATCT	0.582000													39	346					5.88917e-42	6.97976e-42	0.870114	1	0
CPS1	1373	broad.mit.edu	37	2	211441130	211441130	+	Silent	SNP	T	T	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr2:211441130T>C	ENST00000233072.5	+	3	493	c.297T>C	c.(295-297)ccT>ccC	p.P99P	CPS1_ENST00000430249.2_Silent_p.P105P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	99	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGGCCAACCCTATTATTGGGA	0.428000													3	117					0	0	0.115264	0	0
ACOT1	641371	broad.mit.edu	37	14	74004392	74004392	+	Silent	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr14:74004392C>T	ENST00000311148.4	+	1	575	c.267C>T	c.(265-267)ccC>ccT	p.P89P	HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Silent_p.P89P|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000560393.1_Intron	NM_001037161.1	NP_001032238.1			acyl-CoA thioesterase 1											endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CCGAGAAACCCTTGGTGCGGC	0.736000													4	16					0	0	0.150653	0	0
PMVK	10654	broad.mit.edu	37	1	154897618	154897618	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:154897618C>T	ENST00000368467.3	-	5	871	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	189					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGTCTGGAGCGGATAAATTC	0.572000													68	116					0	0	0.870114	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273678	139273678	+	Silent	SNP	C	C	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr9:139273678C>A	ENST00000298532.2	-	21	2969	c.2601G>T	c.(2599-2601)gcG>gcT	p.A867A		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	867					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCCGGCTGGACGCCAGTCTTC	0.642000													6	30					8.12818e-05	8.52793e-05	0.248553	1	0
PTPRC	5788	broad.mit.edu	37	1	198711143	198711143	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:198711143T>C	ENST00000367376.2	+	24	2714	c.2543T>C	c.(2542-2544)gTg>gCg	p.V848A	PTPRC_ENST00000442510.2_Missense_Mutation_p.V850A|PTPRC_ENST00000352140.3_Missense_Mutation_p.V800A|PTPRC_ENST00000348564.6_Missense_Mutation_p.V689A|PTPRC_ENST00000594404.1_Missense_Mutation_p.V687A	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	848	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGTCCCATTGTGGTGCACTGC	0.473000													5	22					0	0	0.217242	0	0
ARMC6	93436	broad.mit.edu	37	19	19162842	19162842	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr19:19162842C>T	ENST00000535612.1	+	5	1123	c.691C>T	c.(691-693)Cat>Tat	p.H231Y	ARMC6_ENST00000392336.3_Missense_Mutation_p.H231Y|ARMC6_ENST00000392335.2_Missense_Mutation_p.H206Y|ARMC6_ENST00000269932.6_Missense_Mutation_p.H206Y|ARMC6_ENST00000546344.1_Missense_Mutation_p.H138Y	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	231							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TGCCATCACCCATCATGGCCA	0.592000													7	44					0	0	0.278610	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57988994	57988994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr12:57988994C>T	ENST00000354947.5	+	3	374	c.358C>T	c.(358-360)Caa>Taa	p.Q120*	PIP4K2C_ENST00000550465.1_Nonsense_Mutation_p.Q102*|PIP4K2C_ENST00000422156.3_Nonsense_Mutation_p.Q120*|PIP4K2C_ENST00000540759.2_Nonsense_Mutation_p.Q120*			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	120	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CATTGATGACCAAGATTACTT	0.463000													131	146					0	0	0.870114	0	0
CACNA1E	777	broad.mit.edu	37	1	181767512	181767512	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr1:181767512G>A	ENST00000526775.1	+	46	6463	c.6298G>A	c.(6298-6300)Gtc>Atc	p.V2100I	CACNA1E_ENST00000367570.1_Missense_Mutation_p.V2119I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1726I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V2162I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V2113I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V2051I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V2143I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2162					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTCCCACCCGTCCCGCCAAA	0.627000													43	94					0	0	0.864702	0	0
SSB	6741	broad.mit.edu	37	2	170665008	170665008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr2:170665008delA	ENST00000409333.1	+	7	818	c.571delA	c.(571-573)aafs	p.K192fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	192					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTACTTTGCCAAAAAAAATGA	0.323													7	117	---	---	---	---					
DNAJB11	51726	broad.mit.edu	37	3	186295532	186295534	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr3:186295532_186295534delTAT	ENST00000439351.1	+	5	1328_1330	c.399_401delTAT	c.(397-402)gat>ga	p.DI133del	DNAJB11_ENST00000265028.3_In_Frame_Del_p.DI133del			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	133					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GAGGAAGTGATATTATTGTAGAT	0.369													20	64	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			9	193	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102745470	102745473	+	RNA	DEL	CAAA	CAAA	-	rs28360358		TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr11:102745470_102745473delCAAA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TACGTAAaagcaaacaaacaaaca	0.324													12	2	---	---	---	---					
RLTPR	146206	broad.mit.edu	37	16	67680147	67680148	+	In_Frame_Ins	INS	-	-	CCTGGA			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr16:67680147_67680148insCCTGGA	ENST00000334583.6	+	5	636_637	c.308_309insCCTGGA	c.(307-309)gct>gCCTGGAct	p.103_104insWT	RLTPR_ENST00000545661.1_In_Frame_Ins_p.103_104insWT	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	103										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGTGTGGCCGCCCTGGAACAGC	0.639													15	61	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577594	7577595	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr17:7577594_7577595delAC	ENST00000420246.2	-	7	818_819	c.686_687delGT	c.(685-687)tfs	p.C229fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	229	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (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.C229fs*10(14)|p.0?(8)|p.?(5)|p.C229fs*1(4)|p.C229*(3)|p.C229F(3)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C136fs*1(1)|p.C229S(1)|p.C136F(1)|p.T230fs*9(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(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)		GGATGGTGGTACAGTCAGAGCC	0.530		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)			33	71	---	---	---	---					
C22orf43	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CR-6493-01A-11D-1870-08	TCGA-CR-6493-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f061abfa-4554-4328-9e8f-b84dd2aa4b45	b8689030-bf4c-4d70-a563-b974838c6bd1	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gcc>g	p.DA171del		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433													10	341	---	---	---	---					
