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
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			20	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436446	179436446	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:179436446C>T	uc021vsy.1	-	274	66934	c.66709G>A	c.(66709-66711)Gtt>Att	p.V22237I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V15932I|TTN_uc021vta.1_Missense_Mutation_p.V15865I|TTN_uc021vtb.1_Missense_Mutation_p.V15740I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23164	Fibronectin type-III 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTCAAGAACGATAACATTA	0.453000													29	77					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86898153	86898153	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:86898153T>A	uc001dlr.4	+	4	848	c.686T>A	c.(685-687)aTc>aAc	p.I229N		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	229					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGCACCTTTATCTACAATAGC	0.378000													38	87					0	0	1	0	0
GPR17	2840	broad.mit.edu	37	2	128408985	128408985	+	Missense_Mutation	SNP	G	G	A	rs143108762		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:128408985G>A	uc010yzn.2	+	3	1371	c.760G>A	c.(760-762)Gag>Aag	p.E254K	LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Missense_Mutation_p.E254K|GPR17_uc010yzo.2_Missense_Mutation_p.E226K|GPR17_uc002tpd.3_Missense_Mutation_p.E226K	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	254						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCTGCGTGTGGAGAAGCGCCT	0.622000													43	83					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58264700	58264700	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:58264700A>G	uc002qpx.3	+	2	425	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Missense_Mutation_p.T68A	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTCTAAGCAGACCCTTTCTAT	0.463000													39	93					0	0	1	0	0
IL33	90865	broad.mit.edu	37	9	6253587	6253587	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:6253587C>T	uc003zjt.3	+	5	583	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	IL33_uc011lmg.2_Missense_Mutation_p.P127S|IL33_uc011lmh.2_Missense_Mutation_p.P43S|IL33_uc022bdf.1_Missense_Mutation_p.P127S	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	169					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GTCTCAACACCCCTCAAATGA	0.383000													11	33					0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85051212	85051212	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:85051212G>A	uc010ysl.2	-	5	1288	c.1199C>T	c.(1198-1200)cCt>cTt	p.P400L	C2orf89_uc002sou.4_Missense_Mutation_p.P351L	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	400						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						CACAAGGGGAGGCAGCGTTGA	0.642000													9	36					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477192	110477192	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr8:110477192G>A	uc003yne.3	+	48	8235	c.8131G>A	c.(8131-8133)Ggc>Agc	p.G2711S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2711					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)			CAAAATAGTCGGCCATCTTGA	0.463000										HNSCC(38;0.096)			48	108					0	0	1	0	0
CCNB1	891	broad.mit.edu	37	5	68467121	68467121	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:68467121A>G	uc003jvm.3	+	3	641	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	CCNB1_uc010ixb.3_Missense_Mutation_p.M130V	NM_031966	NP_114172	P14635	CCNB1_HUMAN	Homo sapiens cyclin B1 (CCNB1), mRNA.	130					G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TCCAAGCCCAATGGAAACATC	0.423000													19	48					0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130575671	130575671	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:130575671A>G	uc004bsg.1	+	14	1602	c.1552A>G	c.(1552-1554)Agc>Ggc	p.S518G	FPGS_uc004bsh.1_Missense_Mutation_p.S335G|FPGS_uc011mal.1_Missense_Mutation_p.S492G|FPGS_uc004bsi.1_Missense_Mutation_p.S468G|AK057719_uc004bsl.1_5'Flank	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	518					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	CCTCGTCTTCAGCTGCATTTC	0.652000													52	118					0	0	1	0	0
KLHL28	54813	broad.mit.edu	37	14	45403339	45403339	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr14:45403339T>C	uc001wvq.3	-	2	1568	c.1322A>G	c.(1321-1323)tAt>tGt	p.Y441C	KLHL28_uc001wvr.3_Missense_Mutation_p.Y441C	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	441										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCAGGACCATACCCACCAAT	0.363000													20	39					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76875911	76875911	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chrX:76875911T>C	uc004ecp.4	-	19	5456	c.5224A>G	c.(5224-5226)Agg>Ggg	p.R1742G	ATRX_uc004ecq.4_Missense_Mutation_p.R1704G|ATRX_uc004eco.4_Missense_Mutation_p.R1527G	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1742	Helicase ATP-binding.		R -> K (in ATRX; atypical; patients presents spastic paraplegia at birth).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R1742S(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATAATCCTCCTCCTTGATCGT	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						29	8					0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960884	7960884	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr11:7960884A>C	uc010rbi.2	-	0	184	c.184T>G	c.(184-186)Ttc>Gtc	p.F62V		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCAGGAGGAACAGGTACATG	0.453000													45	40					0	0	1	0	0
C2orf50	130813	broad.mit.edu	37	2	11273476	11273476	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:11273476A>C	uc010yji.1	+	0	298	c.16A>C	c.(16-18)Acc>Ccc	p.T6P	FLJ33534_uc021vdv.1_5'Flank|FLJ33534_uc002rba.2_5'Flank|C2orf50_uc010yjj.1_Missense_Mutation_p.T6P	NM_182500	NP_872306	Q96LR7	CB050_HUMAN	Homo sapiens chromosome 2 open reading frame 50 (C2orf50), mRNA.	6										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GAGCCACCCCACCCCTGGGCT	0.637000													9	32					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412326	139412326	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:139412326C>G	uc004chz.3	-	7	1319	c.1319G>C	c.(1318-1320)tGt>tCt	p.C440S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	440	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCCTGCAGACACTGGCACTC	0.657000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			25	68					0	0	1	0	0
MEX3D	399664	broad.mit.edu	37	19	1556792	1556792	+	Silent	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:1556792C>T	uc010dsn.3	-	1	726	c.726G>A	c.(724-726)tcG>tcA	p.S242S	MEX3D_uc021uml.1_Silent_p.S242S	NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	Homo sapiens mex-3 homolog D (C. elegans) (MEX3D), transcript variant 1, mRNA.	242					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTCGGCCGCCGACAGGATCT	0.682000													27	73					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38799264	38799264	+	Missense_Mutation	SNP	T	T	C	rs111596029		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr4:38799264T>C	uc003gtl.3	-	3	1463	c.1189A>G	c.(1189-1191)Atg>Gtg	p.M397V	TLR1_uc021xnn.1_Missense_Mutation_p.M397V	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	397					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGAGACTTCATCTGTGTAGTC	0.313000													9	14					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144724310	144724310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr6:144724310G>A	uc003qkt.3	+	1	223	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	UTRN_uc010khq.1_Missense_Mutation_p.R44Q	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	44	Actin-binding.|CH 1.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATAAATGCTCGATTTTCAAAG	0.393000													17	17					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123649912	123649912	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:123649912G>C	uc001uel.3	-	13	2356	c.2248C>G	c.(2248-2250)Ctt>Gtt	p.L750V	MPHOSPH9_uc010tal.2_Missense_Mutation_p.L204V|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Missense_Mutation_p.L204V	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	750					M phase of mitotic cell cycle	Golgi membrane|centriole		p.E749*(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CCCTCATCAAGTTCTTTTAAA	0.373000													6	80					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7045025	7045025	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:7045025G>C	uc001qrw.1	+	4	832	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	ATN1_uc001qrx.1_Missense_Mutation_p.E199Q|ATN1_uc001qry.1_Missense_Mutation_p.E198Q	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	199					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGCTCCCATGGAGCCCCCCAC	0.617000													8	160					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30729914	30729914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:30729914C>T	uc003ceo.3	+	5	1817	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	TGFBR2_uc003cen.3_Missense_Mutation_p.R504W	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	479	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R479Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTCCAAGGTGCGGGAGCACCC	0.502000													28	86					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62460709	62460709	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr8:62460709C>T	uc003xuj.3	-	20	1954	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	ASPH_uc011leg.2_Missense_Mutation_p.R533H	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	562					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GTAGAGTGAGCGTTGCCAGAC	0.448000													35	58					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:209113113G>T	uc002vcs.3	-	3	640	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_uc002vct.3_Missense_Mutation_p.R132S|IDH1_uc002vcu.3_Missense_Mutation_p.R132S	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								29	34					1.12875e-08	1.22281e-08	1	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12919085	12919085	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:12919085A>G	uc001aum.1	+	1	308	c.221A>G	c.(220-222)cAt>cGt	p.H74R		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	74										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACGCTTCATCTGGAGCCA	0.562000													23	223					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67189276	67189276	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:67189276G>C	uc010dfa.1	-	15	2634	c.1755C>G	c.(1753-1755)ttC>ttG	p.F585L	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.F186L	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	585	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCTCATCCATGAATTGGGTAC	0.418000													23	84					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201527642	201527642	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:201527642G>A	uc002uvx.3	+	30	3594	c.3493G>A	c.(3493-3495)Gga>Aga	p.G1165R	AOX1_uc010zhf.2_Missense_Mutation_p.G721R|AOX1_uc010fsu.3_Missense_Mutation_p.G531R	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1165					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTTTGTTTATGGAGCTGCCTG	0.473000													39	41					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42600494	42600494	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr15:42600494T>C	uc001zpi.3	+	7	1014	c.700T>C	c.(700-702)Tca>Cca	p.S234P	GANC_uc001zph.3_Missense_Mutation_p.S234P	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	234					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ACATGCAGAATCACACCAACT	0.393000													52	94					0	0	1	0	0
KIAA0528	9847	broad.mit.edu	37	12	22643145	22643145	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:22643145C>A	uc010sit.2	-	12	1504	c.1276G>T	c.(1276-1278)Gtc>Ttc	p.V426F	KIAA0528_uc010sir.2_Missense_Mutation_p.V239F|KIAA0528_uc010sis.2_Missense_Mutation_p.V424F|KIAA0528_uc001rfq.3_Missense_Mutation_p.V424F|KIAA0528_uc010siu.2_Missense_Mutation_p.V424F|KIAA0528_uc001rfr.3_Missense_Mutation_p.V415F|KIAA0528_uc009ziy.1_Missense_Mutation_p.V426F	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	424							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAAATGCAGACCTCTTCACTA	0.388000													12	32					0.0167234	0.0173923	1	1	0
NSUN5	55695	broad.mit.edu	37	7	72717707	72717707	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:72717707G>C	uc003txw.3	-	8	1253	c.1176C>G	c.(1174-1176)caC>caG	p.H392Q	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.H392Q|NSUN5_uc003txv.3_Missense_Mutation_p.H392Q|NSUN5_uc003txx.3_Missense_Mutation_p.H354Q	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	392							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TCAGGCCTCGGTGGGGCCAGG	0.662000													16	75					0	0	1	0	0
SOWAHA	134548	broad.mit.edu	37	5	132149637	132149637	+	Silent	SNP	G	G	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:132149637G>T	uc003kxw.3	+	0	605	c.324G>T	c.(322-324)acG>acT	p.T108T		NM_175873	NP_787069	Q2M3V2	ANR43_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member A (SOWAHA), mRNA.	108	Pro-rich.																CCACTTCGACGGTCTTGCCGC	0.746000													2	1					1	1	1	1	0
NLRP1	22861	broad.mit.edu	37	17	5442862	5442862	+	Missense_Mutation	SNP	C	C	T	rs148522172		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:5442862C>T	uc002gci.3	-	6	3298	c.2743G>A	c.(2743-2745)Gcc>Acc	p.A915T	NLRP1_uc002gcg.1_Missense_Mutation_p.A915T|NLRP1_uc002gch.4_Missense_Mutation_p.A915T|NLRP1_uc002gck.3_Missense_Mutation_p.A915T|NLRP1_uc002gcj.3_Missense_Mutation_p.A915T|NLRP1_uc002gcl.3_Missense_Mutation_p.A915T|NLRP1_uc010clh.3_Missense_Mutation_p.A915T	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	915					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCACAGAGGCCAGGTCCTGG	0.612000													6	42					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9099884	9099884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:9099884C>T	uc001apo.3	-	6	1152	c.860G>A	c.(859-861)gGc>gAc	p.G287D	SLC2A5_uc010nzy.2_Missense_Mutation_p.G228D|SLC2A5_uc010nzz.2_Missense_Mutation_p.G172D|SLC2A5_uc010oaa.2_Missense_Mutation_p.G243D	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	287					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTGCTGGCCGCCCATGAG	0.721000													9	22					0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129251555	129251555	+	Silent	SNP	G	G	A	rs145004306	by1000genomes	TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:129251555G>A	uc003emt.3	+	3	971	c.876G>A	c.(874-876)gcG>gcA	p.A292A		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	292			A -> E (in CSNBAD1).		protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CCATCCCAGCGTTCTTTGCCA	0.582000													26	62					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46563768	46563768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr11:46563768C>T	uc001ncv.2	-	7	1843	c.1529G>A	c.(1528-1530)tGg>tAg	p.W510*	AMBRA1_uc010rgt.1_Nonsense_Mutation_p.W166*|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.W600*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.W510*|AMBRA1_uc010rgu.1_Nonsense_Mutation_p.W600*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.W510*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.W600*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	528					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGGGACCTGCCAAGAGGAACT	0.592000													18	23					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123673408	123673408	+	Splice_Site	SNP	C	C	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr10:123673408C>A	uc001lfp.3	-	4	316	c.234_splice	c.e4-1	p.R78_splice	ATE1_uc001lfq.3_Splice_Site_p.R78_splice|ATE1_uc010qtr.2_Intron|ATE1_uc010qts.2_Splice_Site|ATE1_uc010qtt.2_Splice_Site_p.R71_splice|ATE1_uc001lfr.3_Splice_Site|ATE1_uc009xzu.3_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	78					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AAGGTCGGCACCTAGGAAAGC	0.363000													3	35					0.115264	0.117524	1	1	0
TSPEAR	54084	broad.mit.edu	37	21	45953633	45953633	+	Silent	SNP	T	T	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr21:45953633T>C	uc002zfe.1	-	2	543	c.477A>G	c.(475-477)acA>acG	p.T159T	TSPEAR_uc010gpv.1_Silent_p.T91T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	159	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCAGGACCAGTGTGTGCCAGC	0.692000													20	49					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178581152	178581152	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:178581152T>C	uc003mjw.3	-	7	1382	c.1280A>G	c.(1279-1281)gAc>gGc	p.D427G	ADAMTS2_uc011dgm.2_Missense_Mutation_p.D427G	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	427	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGCACCTCGTCGCCACAGCG	0.706000													4	9					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479020	66479020	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:66479020C>T	uc003juy.2	-	2	1799	c.1651G>A	c.(1651-1653)Gct>Act	p.A551T		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	551					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CTGTTGGCAGCCAGATTGAGG	0.478000													16	34					0	0	1	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513439	50513439	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:50513439G>C	uc003tpd.3	-	3	1917	c.1547C>G	c.(1546-1548)tCt>tGt	p.S516C	FIGNL1_uc003tpb.3_Missense_Mutation_p.S405C|FIGNL1_uc003tpc.3_Missense_Mutation_p.S516C|FIGNL1_uc003tpe.3_Missense_Mutation_p.S516C|FIGNL1_uc010kyy.3_Missense_Mutation_p.S516C|FIGNL1_uc022ada.1_Missense_Mutation_p.S516C	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	516					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CCTTCTAGAAGATTCATGCTC	0.408000													38	130					0	0	1	0	0
GGT8P	645367	broad.mit.edu	37	2	91969019	91969019	+	RNA	SNP	A	A	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:91969019A>G	uc010fho.1	+	1		c.1350A>G								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		CCTCTGCCCCAGTGAGGTGTT	0.622000													3	20					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860397	16860397	+	Missense_Mutation	SNP	G	G	A	rs143471757	byFrequency	TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:16860397G>A	uc002neu.4	+	5	1366	c.944G>A	c.(943-945)cGc>cAc	p.R315H	NWD1_uc002net.4_Missense_Mutation_p.R180H|NWD1_uc002nev.4_Missense_Mutation_p.R109H|NWD1_uc021uqg.1_Missense_Mutation_p.R180H	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	315							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCTGCGGACGCCAGGAACTC	0.622000													31	52					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187447177	187447180	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:187447177_187447180delCAGT	uc003frp.3	-	4	1470_1473	c.1013_1016delACTG	c.(1012-1017)gactgcfs	p.D338fs	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Frame_Shift_Del_p.D338fs|BCL6_uc010hza.2_Frame_Shift_Del_p.D236fs|BCL6_uc003frq.2_Frame_Shift_Del_p.D338fs	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	338					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GTTGGGCTGGCAGTCAGATTTCTG	0.603			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								20	352	---	---	---	---					
