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
AMY2B	280	broad.mit.edu	37	1	104116388	104116388	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:104116388G>A	uc010ouo.2	+	15	2276	c.572G>A	c.(571-573)cGt>cAt	p.R191H	AMY2B_uc001duq.3_Missense_Mutation_p.R191H|AMY2B_uc001dur.3_Missense_Mutation_p.R191H|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	191					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.R191C(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GATTATGTGCGTTCCAAGATT	0.413												
TCHH	7062	broad.mit.edu	37	1	152080354	152080354	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:152080354C>T	uc009wne.1	-	2	5611	c.5339G>A	c.(5338-5340)cGc>cAc	p.R1780H	TCHH_uc001ezp.2_Missense_Mutation_p.R1780H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1780	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTCCTGGCGGAGCTGTTC	0.592												
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-	rs142739309		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:204135375_204135377delAGC	uc001haq.2	-	0	89_91	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581												
ARID4B	51742	broad.mit.edu	37	1	235377267	235377269	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:235377267_235377269delTCT	uc021pks.1	-	16	2033_2035	c.1656_1658delAGA	c.(1654-1659)gaagag>gag	p.552_553EE>E	ARID4B_uc001hwq.3_In_Frame_Del_p.552_553EE>E|ARID4B_uc001hwr.3_Intron|ARID4B_uc001hws.4_Intron|ARID4B_uc001hwt.4_In_Frame_Del_p.233_234EE>E	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	552	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			atcttcatcctcttcttcttctt	0.404												
OR2L3	391192	broad.mit.edu	37	1	248224733	248224733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:248224733C>A	uc001idx.1	+	0	750	c.750C>A	c.(748-750)taC>taA	p.Y250*	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TAACTTTCTACTATGCACCTT	0.502												
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
KIF20B	9585	broad.mit.edu	37	10	91498052	91498052	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:91498052C>A	uc001kgs.1	+	19	3526	c.3454C>A	c.(3454-3456)Ctt>Att	p.L1152I	KIF20B_uc001kgr.1_Missense_Mutation_p.L1112I|KIF20B_uc001kgt.1_Missense_Mutation_p.L363I|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1152					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GCTTTCAGAACTTACACAAGG	0.343												
WDR11	55717	broad.mit.edu	37	10	122649467	122649467	+	Silent	SNP	T	T	C			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:122649467T>C	uc021pzt.1	+	17	2535	c.2289T>C	c.(2287-2289)aaT>aaC	p.N763N	WDR11_uc010qte.2_Silent_p.N365N|WDR11_uc001lfd.1_Silent_p.N281N	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	763						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTAAAGGAAATCAAAAATTAA	0.383												
OR5D18	219438	broad.mit.edu	37	11	55587178	55587178	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:55587178C>G	uc010rin.2	+	0	73	c.73C>G	c.(73-75)Caa>Gaa	p.Q25E		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCCAGAACTGCAAGTCCCACT	0.448												
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:77069990_77069992delCAT	uc001oyh.4	-	5	1081_1083	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_uc010rso.2_In_Frame_Del_p.D85del|PAK1_uc001oyg.4_In_Frame_Del_p.D183del|PAK1_uc001oyi.1_In_Frame_Del_p.D183del|PAK1_uc010rsn.2_5'UTR	NM_002576	NP_002567	Q13153	PAK1_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA.	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478												
MAML2	84441	broad.mit.edu	37	11	95825767	95825767	+	Silent	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:95825767C>T	uc001pfw.1	-	1	2713	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	476					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.G476V(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTTTCTCCTGCCCAAATGGAC	0.602			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid							
RB1	5925	broad.mit.edu	37	13	48919241	48919244	+	Frame_Shift_Del	DEL	AAAG	AAAG	-	rs121913296		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr13:48919241_48919244delAAAG	uc001vcb.3	+	3	572_575	c.406_409delAAAG	c.(406-411)aaagaafs	p.K136fs	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	136					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.E137*(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAACTTACTAAAAGAAATTGATAC	0.284		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
REM2	161253	broad.mit.edu	37	14	23353987	23353987	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr14:23353987C>T	uc001whf.1	+	1	273	c.208C>T	c.(208-210)Cct>Tct	p.P70S	REM2_uc010tnd.1_Missense_Mutation_p.P62S	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	70					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGGCAGTATGCCTGTCCCCTA	0.607												
FMN1	342184	broad.mit.edu	37	15	33261062	33261062	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:33261062G>A	uc001zhf.4	-	3	2171	c.2171C>T	c.(2170-2172)cCa>cTa	p.P724L	SNORD77_uc021sip.1_5'Flank	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	947	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTGGGGGTGGTGGAGCAGG	0.627												
PLCB2	5330	broad.mit.edu	37	15	40590478	40590478	+	Silent	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:40590478G>A	uc001zld.3	-	10	1402	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	PLCB2_uc010bbo.3_Silent_p.D367D|PLCB2_uc010ucm.2_Silent_p.D367D	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	367	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGGGCTCCTCGTCAGGGGGTT	0.602												
IGF1R	3480	broad.mit.edu	37	15	99456497	99456497	+	Missense_Mutation	SNP	G	G	T	rs45553041		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:99456497G>T	uc002bul.3	+	7	1864	c.1814G>T	c.(1813-1815)cGc>cTc	p.R605L	IGF1R_uc010urq.2_Missense_Mutation_p.R605L|IGF1R_uc010bon.3_Missense_Mutation_p.R605L|IGF1R_uc010urr.1_Missense_Mutation_p.R55L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	605	Fibronectin type-III 1.		R -> H (in dbSNP:rs45553041).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TTGTACATTCGCACCAATGCT	0.532												
NQO1	1728	broad.mit.edu	37	16	69760486	69760487	+	Translation_Start_Site	DEL	TT	TT	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr16:69760486_69760487delTT	uc002exp.3	-	0					NQO1_uc002exq.3_5'UTR|NQO1_uc002exr.3_5'UTR|NQO1_uc010vll.2_5'UTR	NM_000903	NP_000894	P15559	NQO1_HUMAN	Homo sapiens NAD(P)H dehydrogenase, quinone 1 (NQO1), transcript variant 1, mRNA.						nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	GCATTCTCTCTTATATATCCTG	0.644												
TP53	7157	broad.mit.edu	37	17	7578518	7578518	+	Missense_Mutation	SNP	C	C	T	rs28934875		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:7578518C>T	uc002gim.2	-	4	606	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	TP53_uc002gig.1_Missense_Mutation_p.A138T|TP53_uc002gih.3_Missense_Mutation_p.A138T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.A6T|TP53_uc010cnf.1_Missense_Mutation_p.A6T|TP53_uc002gii.1_Missense_Mutation_p.A6T|TP53_uc010cni.1_Missense_Mutation_p.A138T|TP53_uc010cnh.1_Missense_Mutation_p.A138T|TP53_uc002gij.2_Missense_Mutation_p.A138T|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.A45T|TP53_uc002gio.2_Missense_Mutation_p.A6T|TP53_uc010vug.2_Missense_Mutation_p.A99T	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	138	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934875).|A -> S (in LFS; germline mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (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.A138P(30)|p.A138V(19)|p.A138fs*32(10)|p.A138T(10)|p.0?(8)|p.L137L(6)|p.A138_P142delAKTCP(6)|p.A138fs*11(6)|p.L137P(3)|p.C135fs*9(3)|p.A138fs*31(2)|p.L137_W146del10(2)|p.F134_T140>S(2)|p.L137M(2)|p.K132_A138delKMFCQLA(2)|p.A138_V143delAKTCPV(2)|p.A138del(2)|p.N131fs*27(2)|p.C135_A138delCQLA(2)|p.Q136_K139delQLAK(2)|p.L137Q(2)|p.C135_T140delCQLAKT(2)|p.A138S(2)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.L137fs*12(1)|p.L137fs*33(1)|p.V73fs*9(1)|p.L137_A138insX(1)|p.L137V(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.A6P(1)|p.C42fs*9(1)|p.A138A(1)|p.A45P(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)		CAGGTCTTGGCCAGTTGGCAA	0.567		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)		
ABI3	51225	broad.mit.edu	37	17	47297534	47297534	+	Silent	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:47297534C>T	uc002iop.1	+	5	1146	c.648C>T	c.(646-648)agC>agT	p.S216S	ABI3_uc002ioq.1_Silent_p.S210S	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	216					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TGTTCAGCAGCGCCGAAGGTG	0.692										HNSCC(55;0.14)		
DNAH17	8632	broad.mit.edu	37	17	76459049	76459049	+	Silent	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:76459049G>A	uc010dhp.2	-	56	9176	c.9051C>T	c.(9049-9051)ccC>ccT	p.P3017P	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAAAGGTTTTGGGTGTGGTGT	0.522												
TBCD	6904	broad.mit.edu	37	17	80858560	80858560	+	Silent	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:80858560G>A	uc002kfy.1	+	17	1813	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	TBCD_uc002kfx.1_Silent_p.Q544Q|TBCD_uc002kfz.3_Silent_p.Q561Q|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	561					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGTACACGCAGCCAATGATAG	0.493												
ICAM1	3383	broad.mit.edu	37	19	10395175	10395175	+	Missense_Mutation	SNP	C	C	T	rs141326678		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:10395175C>T	uc002mnq.2	+	4	1341	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	ICAM1_uc010xle.1_Missense_Mutation_p.T119M|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	341	Ig-like C2-type 4.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GCCAAGGTGACGCTGAATGGG	0.642												
SCN1B	6324	broad.mit.edu	37	19	35523525	35523525	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:35523525G>A	uc002nxo.2	+	1	267	c.134G>A	c.(133-135)cGc>cAc	p.R45H	SCN1B_uc002nxp.3_Missense_Mutation_p.R45H|SCN1B_uc010xsg.2_Missense_Mutation_p.R45H	NM_199037	NP_950238	Q07699	SCN1B_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA.	45	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	p.R45C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCCTGCAAGCGCCGCAGCGAG	0.622												
SPTBN4	57731	broad.mit.edu	37	19	41063199	41063199	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:41063199C>T	uc002ony.3	+	25	5646	c.5560C>T	c.(5560-5562)Cgg>Tgg	p.R1854W	SPTBN4_uc002onx.3_Missense_Mutation_p.R1854W|SPTBN4_uc002onz.3_Missense_Mutation_p.R1854W|SPTBN4_uc010egx.3_Missense_Mutation_p.R597W|SPTBN4_uc002ooa.3_Missense_Mutation_p.R530W	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1854					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGGAGAAGCGGAGGCGGCT	0.647												
KLK6	5653	broad.mit.edu	37	19	51466671	51466671	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:51466671C>T	uc002puh.3	-	2	424	c.359G>A	c.(358-360)cGc>cAc	p.R120H	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R111H|KLK6_uc002puj.3_Missense_Mutation_p.R4H|KLK6_uc010ycn.2_Missense_Mutation_p.R4H|KLK6_uc002pul.3_Missense_Mutation_p.R111H|KLK6_uc002pum.3_Missense_Mutation_p.R4H	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	111	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCGTGCCAGGCGCAACAGCAT	0.617												
LILRA5	353514	broad.mit.edu	37	19	54822924	54822924	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:54822924C>T	uc002qfe.3	-	4	592	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	LILRA5_uc002qff.3_Missense_Mutation_p.V146M|LILRA5_uc010yev.2_Missense_Mutation_p.V158M|LILRA5_uc010yew.2_Missense_Mutation_p.V146M|LILRA5_uc002qfg.1_Missense_Mutation_p.V158M|LILRA5_uc002qfh.1_Missense_Mutation_p.V146M	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	158	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity	p.N157D(1)|p.N157N(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGAGGGTCACGTTCTCTCCT	0.572												
GPAT2	150763	broad.mit.edu	37	2	96691751	96691751	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:96691751C>T	uc002svf.3	-	11	1388	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	GPAT2_uc002sve.3_Missense_Mutation_p.V191I|GPAT2_uc002svd.3_Missense_Mutation_p.V202I|GPAT2_uc002svg.3_Missense_Mutation_p.V262I|GPAT2_uc010yuh.2_Missense_Mutation_p.V318I|GPAT2_uc002svh.3_Missense_Mutation_p.V389I	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	389					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGGCACTGACGATGTATTCC	0.612												
TTN	7273	broad.mit.edu	37	2	179395245	179395245	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:179395245C>A	uc021vsy.1	-	306	98618	c.98393G>T	c.(98392-98394)gGa>gTa	p.G32798V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G26493V|TTN_uc021vta.1_Missense_Mutation_p.G26426V|TTN_uc021vtb.1_Missense_Mutation_p.G26301V|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33725	Ig-like 145.						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)			TTTAGACGTTCCACCTTCACC	0.363												
TTN	7273	broad.mit.edu	37	2	179485027	179485027	+	Silent	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:179485027G>A	uc021vsy.1	-	196	38742	c.38517C>T	c.(38515-38517)gaC>gaT	p.D12839D	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.D6534D|TTN_uc021vta.1_Silent_p.D6467D|TTN_uc021vtb.1_Silent_p.D6342D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13766	Ig-like 85.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D12839D(1)|p.D6342D(1)		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)			AGAAGACAGCGTCATCGAACT	0.433												
ALPP	250	broad.mit.edu	37	2	233243529	233243531	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:233243529_233243531delTGC	uc002vsq.3	+	0	182_184	c.17_19delTGC	c.(16-21)atgctg>atg	p.L13del		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	13						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGCCCTGCAtgctgctgctgct	0.616												
SIRPB1	10326	broad.mit.edu	37	20	1552398	1552398	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr20:1552398C>T	uc010gai.3	-	2	818	c.719G>A	c.(718-720)cGt>cAt	p.R240H	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	240	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.R240C(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCAGTCCCACGAAGAGGGTC	0.622												
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr20:29625934C>T	uc010ztl.1	+	1	120	c.88C>T	c.(88-90)Cat>Tat	p.H30Y	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338												
LIMK2	3985	broad.mit.edu	37	22	31658176	31658176	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr22:31658176G>A	uc003akh.3	+	5	753	c.608G>A	c.(607-609)cGc>cAc	p.R203H	LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Missense_Mutation_p.R182H|LIMK2_uc003akk.3_Missense_Mutation_p.R182H|LIMK2_uc011aln.2_Missense_Mutation_p.R120H	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	203	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCTGGGGACCGCATCCTGGAG	0.547												
MYL3	4634	broad.mit.edu	37	3	46901034	46901034	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr3:46901034G>A	uc003cql.1	-	3	505	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W		NM_000258	NP_000249	P08590	MYL3_HUMAN	Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.	138	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TCGAAGACCCGCAGCCCCTCC	0.572												
PCOLCE2	26577	broad.mit.edu	37	3	142567280	142567280	+	Missense_Mutation	SNP	C	C	T	rs143959509		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr3:142567280C>T	uc003evd.3	-	2	534	c.227G>A	c.(226-228)cGa>cAa	p.R76Q		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	76	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTCTATGAATCGGAAATTGAG	0.473												
ARHGEF26	26084	broad.mit.edu	37	3	153840688	153840688	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr3:153840688G>C	uc021xgc.1	+	1	1191	c.907G>C	c.(907-909)Gat>Cat	p.D303H	ARHGEF26-AS1_uc003ezu.1_5'Flank|ARHGEF26_uc011bog.1_Missense_Mutation_p.D303H|ARHGEF26_uc011boh.1_Missense_Mutation_p.D303H	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	303					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TAACGACGTGGATAGCCCAGG	0.597												
UGT2A3	79799	broad.mit.edu	37	4	69817091	69817091	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:69817091A>G	uc003hef.2	-	0	419	c.388T>C	c.(388-390)Tac>Cac	p.Y130H	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	130						integral to membrane	glucuronosyltransferase activity	p.I129M(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCTGATTGTAGATAAAGCTC	0.383												
ANXA3	306	broad.mit.edu	37	4	79503370	79503370	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:79503370T>A	uc003hld.3	+	4	548	c.238T>A	c.(238-240)Ttt>Att	p.F80I		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	80					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTCTGGCCACTTTGAGCATCT	0.428												
ODZ3	55714	broad.mit.edu	37	4	183714569	183714569	+	Silent	SNP	T	T	C			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:183714569T>C	uc003ivd.1	+	24	6819	c.6744T>C	c.(6742-6744)ttT>ttC	p.F2248F		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2248					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACCTGCAGTTTTTTTATGCTG	0.438												
PIK3R1	5295	broad.mit.edu	37	5	67589590	67589591	+	In_Frame_Ins	INS	-	-	TAT			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:67589590_67589591insTAT	uc003jva.3	+	10	1933_1934	c.1353_1354insTAT	c.(1351-1356)insTAT	p.452_453insY	PIK3R1_uc003jvc.3_In_Frame_Ins_p.152_153insY|PIK3R1_uc003jvd.3_In_Frame_Ins_p.182_183insY|PIK3R1_uc003jve.3_In_Frame_Ins_p.131_132insY|PIK3R1_uc021xzn.1_In_Frame_Ins_p.89_90insY|PIK3R1_uc011crb.2_In_Frame_Ins_p.122_123insY	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	452					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N453_T454insN(4)|p.H450_E451del(4)|p.G446_Y452>VI(2)|p.Y452N(2)|p.E451_Y452del(2)|p.D434_Q475del(2)|p.E451_Y452delEY(2)|p.Y152N(1)|p.Y452_Q455>SGGSRIK(1)|p.0?(1)|p.?(1)|p.Y182N(1)|p.453_454insN(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AATTACATGAATATAACACTCA	0.277			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
GPR98	84059	broad.mit.edu	37	5	89953946	89953946	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:89953946G>A	uc003kju.3	+	20	4699	c.4603G>A	c.(4603-4605)Gag>Aag	p.E1535K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1535	Calx-beta 10.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACAATGACGAGGAAGGAGA	0.358												
STK10	6793	broad.mit.edu	37	5	171488225	171488225	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:171488225C>T	uc003mbo.1	-	13	2430	c.2130G>A	c.(2128-2130)atG>atA	p.M710I		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	710			M -> T (in dbSNP:rs34936670).				ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAGCCTCTTCATGGCCAGCT	0.612												
IMPG1	3617	broad.mit.edu	37	6	76715225	76715225	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:76715225G>A	uc003pik.1	-	9	1044	c.914C>T	c.(913-915)aCg>aTg	p.T305M		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	305	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGATGGCCGTAAGTTGCAT	0.448												
ULBP1	80329	broad.mit.edu	37	6	150290460	150290460	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:150290460T>G	uc003qnp.3	+	2	632	c.589T>G	c.(589-591)Ttt>Gtt	p.F197V		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.	197	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	p.E196*(1)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GCTTGAAGAATTTTTGATGTA	0.443												
KIF25	3834	broad.mit.edu	37	6	168443281	168443281	+	Silent	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:168443281G>A	uc003qwk.1	+	7	1132	c.870G>A	c.(868-870)gcG>gcA	p.A290A	KIF25_uc003qwl.1_Intron	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	290	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGAGATGGCGTGCATCAGCC	0.647												
TFPI2	7980	broad.mit.edu	37	7	93516588	93516588	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:93516588G>A	uc003umy.1	-	3	691	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.N180N|TFPI2_uc003una.1_Missense_Mutation_p.R195C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	206	BPTI/Kunitz inhibitor 3.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCACATGCACGTTTGCAATCC	0.323												
ZAN	7455	broad.mit.edu	37	7	100364654	100364654	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:100364654C>T	uc003uwj.3	+	24	4799	c.4634C>T	c.(4633-4635)tCg>tTg	p.S1545L	ZAN_uc003uwk.3_Missense_Mutation_p.S1545L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Missense_Mutation_p.S122L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1545	VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCACAGCCTCGGGTGACCCC	0.607												
REPIN1	29803	broad.mit.edu	37	7	150069247	150069247	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:150069247A>G	uc022apt.1	-	0	787	c.419T>C	c.(418-420)gTt>gCt	p.V140A	REPIN1_uc003whd.2_Missense_Mutation_p.N295S|REPIN1_uc010lpq.1_Missense_Mutation_p.N306S|REPIN1_uc010lpr.1_Missense_Mutation_p.N363S|REPIN1_uc003whc.2_Missense_Mutation_p.N306S|REPIN1_uc003whe.2_Missense_Mutation_p.N306S			Q9BWE0	REPI1_HUMAN	Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).	0					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CACAAACCCAACCTGCTGTCT	0.672												
ATP6V1C1	528	broad.mit.edu	37	8	104064965	104064965	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr8:104064965A>C	uc003ykz.4	+	5	633	c.388A>C	c.(388-390)Act>Cct	p.T130P	ATP6V1C1_uc010mbz.3_Missense_Mutation_p.T55P|ATP6V1C1_uc003yla.3_Missense_Mutation_p.T130P|ATP6V1C1_uc011lhl.2_Missense_Mutation_p.T55P	NM_001695	NP_001686	P21283	VATC1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 (ATP6V1C1), mRNA.	130					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AAAGGGAGTAACTCAGATTGA	0.318												
TONSL	4796	broad.mit.edu	37	8	145654644	145654644	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr8:145654644delC	uc011llg.2	-	25	4034	c.4019delG	c.(4018-4020)tgcfs	p.C1340fs	VPS28_uc003zcs.1_5'Flank|VPS28_uc003zct.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	1340					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCGTCTGCTGCACAGCTGCAG	0.721												
NAA35	60560	broad.mit.edu	37	9	88576949	88576950	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr9:88576949_88576950delTC	uc004aoi.4	+	5	507_508	c.370_371delTC	c.(370-372)tcafs	p.S124fs	NAA35_uc004aoj.4_Frame_Shift_Del_p.S124fs|NAA35_uc004aok.1_Frame_Shift_Del_p.S124fs	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	124					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AGAAGGCCATTCACTGGCACAG	0.366												
RXRA	6256	broad.mit.edu	37	9	137309042	137309042	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr9:137309042G>T	uc004cfb.2	+	4	811	c.649G>T	c.(649-651)Gag>Tag	p.E217*	RXRA_uc004cfc.1_Nonsense_Mutation_p.E120*|RXRA_uc004cfd.1_5'UTR	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	217	Hinge.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GGACCGGAACGAGAATGAGGT	0.677												
KDM6A	7403	broad.mit.edu	37	X	44923045	44923048	+	Frame_Shift_Del	DEL	CTAT	CTAT	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chrX:44923045_44923048delCTAT	uc011mkz.2	+	16	2437_2440	c.2062_2065delCTAT	c.(2062-2067)ctatctfs	p.L688fs	KDM6A_uc022bvi.1_Frame_Shift_Del_p.L306fs|KDM6A_uc010nhk.2_Frame_Shift_Del_p.L602fs|KDM6A_uc004dge.4_Frame_Shift_Del_p.L636fs|KDM6A_uc011mla.2_Frame_Shift_Del_p.L591fs|KDM6A_uc011mlb.2_Frame_Shift_Del_p.L643fs|KDM6A_uc011mlc.2_Frame_Shift_Del_p.L340fs|KDM6A_uc022bvj.1_Frame_Shift_Del_p.L557fs|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Frame_Shift_Del_p.L275fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	636					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAAAACCAACTATCTAACTCCAC	0.446			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""							
H2BFM	286436	broad.mit.edu	37	X	103294801	103294801	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chrX:103294801delT	uc004els.2	+	0	286	c.258delT	c.(256-258)gatfs	p.D86fs		NM_001164416	NP_001157888			Homo sapiens H2B histone family, member M (H2BFM), mRNA.											endometrium(1)|lung(1)|ovary(1)	3						GTGTCATGGATTCTATGATCC	0.602												
