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
PUM1	9698	broad.mit.edu	37	1	31409615	31409615	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:31409615A>C	uc001bsi.1	-	20	3417	c.3304T>G	c.(3304-3306)Tgc>Ggc	p.C1102G	PUM1_uc001bsf.1_Missense_Mutation_p.C770G|PUM1_uc001bsh.1_Missense_Mutation_p.C1104G|PUM1_uc001bsj.1_Missense_Mutation_p.C1078G|PUM1_uc010oga.1_Missense_Mutation_p.C960G|PUM1_uc001bsk.1_Missense_Mutation_p.C1140G|PUM1_uc010ogb.1_Missense_Mutation_p.C1043G|SNORD103A_uc021okk.1_5'Flank	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	1102	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTCATGGTGCACACCTCATCG	0.522												
SOAT1	6646	broad.mit.edu	37	1	179304764	179304764	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:179304764G>A	uc001gml.3	+	3	532	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	SOAT1_uc010pni.2_Missense_Mutation_p.E36K|SOAT1_uc001gmm.3_Missense_Mutation_p.E43K|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.E36K	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	101					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTCTGTTCTTGAAGGAGAGAA	0.393												
SOAT1	6646	broad.mit.edu	37	1	179304793	179304793	+	Splice_Site	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:179304793G>C	uc001gml.3	+	4	560	c.329_splice	c.e4+1	p.K110_splice	SOAT1_uc010pni.2_Splice_Site_p.K45_splice|SOAT1_uc001gmm.3_Splice_Site_p.K52_splice|SOAT1_uc010pnj.2_Splice_Site|SOAT1_uc010pnk.2_Splice_Site_p.K45_splice	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	110					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ATAGAGCGAAGTAAGTATGTG	0.398												
KCNT2	343450	broad.mit.edu	37	1	196398829	196398829	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:196398829G>T	uc001gtd.1	-	8	757	c.697C>A	c.(697-699)Ctt>Att	p.L233I	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.L233I|KCNT2_uc001gtf.1_Missense_Mutation_p.L233I|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.L233I|KCNT2_uc009wyv.1_Missense_Mutation_p.L208I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	233						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.S232F(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGAAATAAAGGGAGTCAAAG	0.393												
MICU1	10367	broad.mit.edu	37	10	74234889	74234889	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr10:74234889C>T	uc001jtb.2	-	7	1085	c.902G>A	c.(901-903)cGt>cAt	p.R301H	MIR1256_uc021pth.1_Intron|MICU1_uc010qjx.2_Missense_Mutation_p.R103H|MICU1_uc010qjw.2_Missense_Mutation_p.R103H|MICU1_uc009xqo.2_Non-coding_Transcript	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	301					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										CTGCAGTTTACGCTGAAATTC	0.463												
PTEN	5728	broad.mit.edu	37	10	89720799	89720802	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr10:89720799_89720802delTACT	uc001kfb.3	+	7	1982_1985	c.950_953delTACT	c.(949-954)gtacttfs	p.V317fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	317	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.L318fs*2(49)|p.0?(37)|p.T319fs*1(12)|p.V317fs*3(8)|p.R55fs*1(5)|p.V317fs*6(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L316fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.L318F(2)|p.T318fs*2(2)|p.G165_*404del(1)|p.L318fs*3(1)|p.G165_K342del(1)|p.L316fs*2(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)		GAATATCTAGTACTTACTTTAACA	0.333	V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)|V317fs*3(SKUT1_SOFT_TISSUE)	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)		
MEN1	4221	broad.mit.edu	37	11	64575552	64575552	+	Silent	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr11:64575552G>A	uc001obj.3	-	2	553	c.480C>T	c.(478-480)tcC>tcT	p.S160S	MEN1_uc001obk.3_Silent_p.S160S|MEN1_uc001obl.3_Silent_p.S155S|MEN1_uc001obm.3_Silent_p.S155S|MEN1_uc001obn.3_Silent_p.S160S|MEN1_uc001obo.3_Silent_p.S160S|MEN1_uc001obq.3_Silent_p.S160S|MEN1_uc001obr.3_Silent_p.S160S	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	160			S -> F (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.F159C(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AGGCCACACCGGAGCTGTCCA	0.602			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated			
MTNR1B	4544	broad.mit.edu	37	11	92715286	92715286	+	Silent	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr11:92715286C>T	uc001pdk.1	+	1	1000	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	299					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TGGCTTATTTCAACAGCTGCC	0.522												
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
ADCY6	112	broad.mit.edu	37	12	49169145	49169145	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:49169145G>A	uc001rsh.4	-	9	2581	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W	ADCY6_uc001rsi.4_Missense_Mutation_p.R641W|ADCY6_uc001rsj.4_Missense_Mutation_p.R641W|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	641					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.R641L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGTCCTTCCGCAGCTGATCA	0.597												
SLC5A8	160728	broad.mit.edu	37	12	101555815	101555815	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:101555815A>G	uc001thz.4	-	12	1957	c.1567T>C	c.(1567-1569)Tac>Cac	p.Y523H		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	523					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGCTGAAGTACAGATATGAT	0.358												
DYX1C1	161582	broad.mit.edu	37	15	55790519	55790520	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:55790519_55790520delAA	uc002adc.3	-	1	376_377	c.8_9delTT	c.(7-9)cttfs	p.L3fs	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Frame_Shift_Del_p.L3fs|DYX1C1_uc002add.3_Frame_Shift_Del_p.L3fs	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	3	CS.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CGCTAACCTGAAGAGGCATTCC	0.599												
GOLGA6A	342096	broad.mit.edu	37	15	74365151	74365151	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:74365151A>C	uc002axa.1	-	12	1474	c.1433T>G	c.(1432-1434)cTa>cGa	p.L478R	DQ582073_uc021sqc.1_5'Flank|DQ596164_uc021sqd.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	478										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GGCAGCTTCTAGGTGCTCCTA	0.612												
GOLGA6D	653643	broad.mit.edu	37	15	75580652	75580652	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:75580652G>A	uc010uma.2	+	6	546	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_001145224	NP_001138696	P0CG33	GOG6D_HUMAN	Homo sapiens golgin A6 family, member D (GOLGA6D), mRNA.	171										kidney(1)|lung(1)	2						GCATATTCAAGAATTGGAGCG	0.557												
TTLL13	440307	broad.mit.edu	37	15	90802040	90802040	+	Silent	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:90802040C>T	uc002bpd.1	+	9	1521	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	411	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			ATGCACTTCTCTGTGATGCTA	0.512												
DNAH3	55567	broad.mit.edu	37	16	21145587	21145587	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr16:21145587A>G	uc010vbe.2	-	6	1075	c.1075T>C	c.(1075-1077)Ttt>Ctt	p.F359L	DNAH3_uc002die.2_Missense_Mutation_p.F330L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	359	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TACTCTGCAAACCACAGTTCT	0.527												
SPAG5	10615	broad.mit.edu	37	17	26911445	26911445	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:26911445G>C	uc002hbq.3	-	11	2307	c.2215C>G	c.(2215-2217)Cta>Gta	p.L739V	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	739	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGACTCTGTAGCTCTTTTAGC	0.512												
HNF1B	6928	broad.mit.edu	37	17	36065013	36065013	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:36065013G>A	uc002hok.4	-	5	1471	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	HNF1B_uc021tvu.1_Missense_Mutation_p.T187M|HNF1B_uc010wdi.2_Missense_Mutation_p.T391M|HNF1B_uc021tvv.1_Missense_Mutation_p.T417M|HNF1B_uc021tvw.1_Missense_Mutation_p.T391M	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	417					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGATATTCGTCAAGGTGCT	0.478												
FBXL20	84961	broad.mit.edu	37	17	37431297	37431297	+	Silent	SNP	G	G	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:37431297G>T	uc002hrt.3	-	9	1007	c.753C>A	c.(751-753)tcC>tcA	p.S251S	FBXL20_uc010cvu.3_Silent_p.S219S	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA.	251						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AGGCACAAAGGGATTGTAACT	0.403												
POTEC	388468	broad.mit.edu	37	18	14542851	14542851	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr18:14542851C>T	uc010dln.3	-	0	749	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	99										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CACCACTTGCCCATCTTGCTC	0.622												
KCNG2	26251	broad.mit.edu	37	18	77659449	77659449	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr18:77659449G>A	uc010xfl.2	+	1	1034	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	345					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CTGGCCGAGCGCGAGCTGGGC	0.716												
ITGB1BP3	27231	broad.mit.edu	37	19	3942189	3942189	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:3942189G>A	uc010xia.2	+	6	840	c.626G>A	c.(625-627)cGc>cAc	p.R209H	ITGB1BP3_uc002lyz.4_Missense_Mutation_p.R204H	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA.	204					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			central_nervous_system(1)|large_intestine(3)|lung(4)|skin(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCGGCTCGCCCAGCCAGG	0.647												
CCDC105	126402	broad.mit.edu	37	19	15132177	15132177	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:15132177C>T	uc002nae.2	+	3	986	c.887C>T	c.(886-888)gCg>gTg	p.A296V		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	296					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TGCGCCTTGGCGCTAAACGAA	0.597												
ZNF208	7757	broad.mit.edu	37	19	22155492	22155492	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:22155492A>C	uc021urr.1	-	3	2493	c.2344T>G	c.(2344-2346)Tgt>Ggt	p.C782G	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCTTTGCCACATTCTTCACAT	0.358												
BCL11A	53335	broad.mit.edu	37	2	60679781	60679781	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:60679781G>A	uc002sab.3	-	4	2479	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	BCL11A_uc002sac.3_Silent_p.F217F|BCL11A_uc010ypi.2_Missense_Mutation_p.R420W|BCL11A_uc010ypj.2_Silent_p.F767F	NM_018014	NP_060484	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 2, mRNA.	0					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTACTACGCCGAATGGGGGTG	0.498			T	IGH@	B-CLL							
ALMS1	7840	broad.mit.edu	37	2	73717955	73717955	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:73717955G>C	uc002sje.1	+	9	8977	c.8866G>C	c.(8866-8868)Gct>Cct	p.A2956P	ALMS1_uc002sjf.1_Missense_Mutation_p.A2914P|ALMS1_uc002sjg.3_Missense_Mutation_p.A2344P|ALMS1_uc002sjh.1_Missense_Mutation_p.A2344P	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2956					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGATTCTATAGCTTCAGACCT	0.438												
ALMS1	7840	broad.mit.edu	37	2	73717985	73717985	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:73717985G>C	uc002sje.1	+	9	9007	c.8896G>C	c.(8896-8898)Gaa>Caa	p.E2966Q	ALMS1_uc002sjf.1_Missense_Mutation_p.E2924Q|ALMS1_uc002sjg.3_Missense_Mutation_p.E2354Q|ALMS1_uc002sjh.1_Missense_Mutation_p.E2354Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2966					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATTTCTCTTGAACAATGCCA	0.428												
TTN	7273	broad.mit.edu	37	2	179623871	179623871	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:179623871G>T	uc021vsy.1	-	43	10368	c.10143C>A	c.(10141-10143)gaC>gaA	p.D3381E	TTN_uc021vsz.1_Missense_Mutation_p.D3335E|TTN_uc021vta.1_Missense_Mutation_p.D3335E|TTN_uc021vtb.1_Missense_Mutation_p.D3335E|TTN_uc002umz.1_Missense_Mutation_p.D42E|TTN_uc002unb.2_Missense_Mutation_p.D3381E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4324	Ig-like 20.						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)			TGATTTTCTTGTCTTTGCTGT	0.368												
AOX1	316	broad.mit.edu	37	2	201527627	201527627	+	Missense_Mutation	SNP	G	G	A	rs142723794	byFrequency	TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:201527627G>A	uc002uvx.3	+	30	3579	c.3478G>A	c.(3478-3480)Gaa>Aaa	p.E1160K	AOX1_uc010zhf.2_Missense_Mutation_p.E716K|AOX1_uc010fsu.3_Missense_Mutation_p.E526K	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1160					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD 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)	CCAGCCCTTCGAATACTTTGT	0.483												
CREB1	1385	broad.mit.edu	37	2	208434967	208434971	+	Frame_Shift_Del	DEL	GAAGA	GAAGA	-			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:208434967_208434971delGAAGA	uc002vcc.3	+	5	720_724	c.469_473delGAAGA	c.(469-474)gaagagfs	p.E157fs	CREB1_uc010ziz.1_Frame_Shift_Del_p.E141fs|CREB1_uc002vcd.3_Frame_Shift_Del_p.E143fs|CREB1_uc010zja.1_Non-coding_Transcript	NM_134442	NP_604391	P16220	CREB1_HUMAN	Homo sapiens cAMP responsive element binding protein 1 (CREB1), transcript variant B, mRNA.	157	KID.				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	AGAGAAGTCTGAAGAGGAGACTTCA	0.371			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""							
XRCC5	7520	broad.mit.edu	37	2	216995664	216995664	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:216995664C>T	uc002vfy.3	+	8	1144	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	XRCC5_uc002vfz.3_Missense_Mutation_p.S221L	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	335	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AAATATAAATCGGAGGGGAAG	0.368								Non-homologous end-joining				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr20:29625877G>A	uc010ztl.1	+	1	63	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	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.									p.A41T(2)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358												
LIPI	149998	broad.mit.edu	37	21	15561699	15561699	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr21:15561699T>C	uc002yjm.3	-	1	161	c.151A>G	c.(151-153)Aag>Gag	p.K51E	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.K30E|LIPI_uc021whh.1_Missense_Mutation_p.K30E|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.K30E|LIPI_uc021whe.1_Missense_Mutation_p.K30E|LIPI_uc021whf.1_Missense_Mutation_p.K30E	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	30					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.K51N(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AAGGAATCCTTTACACTTAGC	0.358												
SRGAP3	9901	broad.mit.edu	37	3	9055068	9055068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr3:9055068C>A	uc003brf.1	-	16	2747	c.2071G>T	c.(2071-2073)Gaa>Taa	p.E691*	SRGAP3_uc003brg.1_Nonsense_Mutation_p.E667*	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	691					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AAGATGGCTTCATGATGGATG	0.512			T	RAF1	pilocytic astrocytoma							
FANCD2	2177	broad.mit.edu	37	3	10107617	10107617	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr3:10107617C>T	uc003buw.3	+	24	2417	c.2339C>T	c.(2338-2340)tCa>tTa	p.S780L	FANCD2_uc003bux.1_Missense_Mutation_p.S780L|FANCD2_uc003buy.1_Missense_Mutation_p.S780L|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	780					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGAGCGTTCATTCATGTGT	0.403			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
SDHAP2	727956	broad.mit.edu	37	3	195400795	195400795	+	Missense_Mutation	SNP	C	C	T	rs7615357	by1000genomes	TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr3:195400795C>T	uc003fuw.3	+	8	1285	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GGGGCAAACTCGCTGTTGGAC	0.592												
SDHAP2	727956	broad.mit.edu	37	3	195400799	195400799	+	Missense_Mutation	SNP	G	G	A	rs7635172	by1000genomes	TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr3:195400799G>A	uc003fuw.3	+	8	1289	c.95G>A	c.(94-96)tGt>tAt	p.C32Y	SDHAP2_uc011btb.1_Silent_p.L179L|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CAAACTCGCTGTTGGACCTGG	0.597												
KIAA1211	57482	broad.mit.edu	37	4	57189557	57189557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr4:57189557C>T	uc003hbk.2	+	8	3593	c.3202C>T	c.(3202-3204)Cag>Tag	p.Q1068*	KIAA1211_uc010iha.2_Nonsense_Mutation_p.Q1061*	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	1068										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCCGATGCTTCAGAGCAGACA	0.468												
ALB	213	broad.mit.edu	37	4	74283255	74283255	+	Missense_Mutation	SNP	G	G	T	rs141626688		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr4:74283255G>T	uc003hgs.4	+	10	1370	c.1297G>T	c.(1297-1299)Gtt>Ttt	p.V433F	ALB_uc011cbe.2_Missense_Mutation_p.V112F|ALB_uc003hgw.4_Missense_Mutation_p.V241F|ALB_uc011cbf.2_Missense_Mutation_p.V323F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	433	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CAGGCTATTAGTTCGTTACAC	0.398												
ATP10B	23120	broad.mit.edu	37	5	160063304	160063304	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr5:160063304C>T	uc003lym.1	-	10	1860	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	ATP10B_uc003lyp.2_Nonsense_Mutation_p.W338*|ATP10B_uc011deg.1_Nonsense_Mutation_p.W382*|ATP10B_uc003lyn.3_5'Flank|ATP10B_uc003lyo.2_Nonsense_Mutation_p.W310*	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	338					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCCATTCCAGATGCTGTG	0.498												
CLIC5	53405	broad.mit.edu	37	6	45882089	45882089	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr6:45882089G>C	uc003oxv.3	-	4	1047	c.941C>G	c.(940-942)cCt>cGt	p.P314R	CLIC5_uc003oxu.3_Missense_Mutation_p.P155R|CLIC5_uc003oxw.3_Non-coding_Transcript|CLIC5_uc003oxx.3_Missense_Mutation_p.P155R	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	314	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTCTGGTAGAGGGGTGTTCAG	0.512												
SNAP91	9892	broad.mit.edu	37	6	84284736	84284736	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr6:84284736G>A	uc021zcf.1	-	24	2465	c.2435C>T	c.(2434-2436)gCa>gTa	p.A812V	SNAP91_uc011dzd.2_Missense_Mutation_p.A310V|SNAP91_uc003pka.3_Missense_Mutation_p.A810V|SNAP91_uc011dze.2_Missense_Mutation_p.A810V|SNAP91_uc003pkc.3_Missense_Mutation_p.A782V|SNAP91_uc003pkd.3_Missense_Mutation_p.A505V|SNAP91_uc003pkb.3_Missense_Mutation_p.A721V	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	812	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TACCAAAGGTGCACTTGGTGG	0.522												
EGFR	1956	broad.mit.edu	37	7	55214319	55214319	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr7:55214319C>T	uc003tqk.3	+	3	691	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	EGFR_uc003tqh.3_Missense_Mutation_p.R149W|EGFR_uc003tqi.3_Missense_Mutation_p.R149W|EGFR_uc003tqj.3_Missense_Mutation_p.R149W|EGFR_uc022adm.1_Missense_Mutation_p.R149W|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Missense_Mutation_p.R96W	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	149					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGGCGCCGTGCGGTTCAGCAA	0.532		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
PIK3CG	5294	broad.mit.edu	37	7	106508473	106508473	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr7:106508473C>T	uc003vdv.4	+	1	552	c.467C>T	c.(466-468)gCg>gTg	p.A156V	PIK3CG_uc003vdu.3_Missense_Mutation_p.A156V|PIK3CG_uc003vdw.3_Missense_Mutation_p.A156V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	156					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.T155T(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAGCTCACGGCGCTGATTGGC	0.682												
POLR3D	661	broad.mit.edu	37	8	22106786	22106786	+	Silent	SNP	C	C	T	rs139222181	byFrequency	TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr8:22106786C>T	uc003xbl.3	+	6	968	c.885C>T	c.(883-885)gaC>gaT	p.D295D	POLR3D_uc003xbm.3_Silent_p.D295D|POLR3D_uc011kze.2_Intron	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	295					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGGGCGAGGACGGACAGGTGG	0.597												
MLLT3	4300	broad.mit.edu	37	9	20448206	20448206	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr9:20448206delG	uc003zoe.2	-	3	594	c.335delC	c.(334-336)ccafs	p.P112fs	MLLT3_uc011lne.1_Frame_Shift_Del_p.P80fs|MLLT3_uc011lnf.1_Frame_Shift_Del_p.P109fs|MLLT3_uc003zof.3_Intron	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	112	YEATS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ATTCACTGGTGGATGGCCTTC	0.448			T	MLL	ALL							
OR1B1	347169	broad.mit.edu	37	9	125391091	125391091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr9:125391091G>A	uc011lyz.2	-	0	724	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R241C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GAGACTGCTCGGCGGCGACCA	0.557												
NUDT11	55190	broad.mit.edu	37	X	51239120	51239120	+	Silent	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:51239120G>A	uc010njt.3	-	0	340	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.	59	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CCGCCGCACCGCCCGGCTCCT	0.662										HNSCC(48;0.14)		
STAG2	10735	broad.mit.edu	37	X	123197901	123197901	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:123197901G>C	uc004eua.3	+	20	2429	c.2025_splice	c.e20+1	p.E675_splice	STAG2_uc004etz.4_Splice_Site_p.E675_splice|STAG2_uc004eub.3_Splice_Site_p.E675_splice|STAG2_uc004euc.3_Splice_Site_p.E675_splice|STAG2_uc004eud.3_Splice_Site_p.E675_splice|STAG2_uc004eue.3_Splice_Site_p.E675_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	675					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCTGCAAGAGGTATATATTA	0.358												
DDX26B	203522	broad.mit.edu	37	X	134679466	134679466	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:134679466G>A	uc004eyw.4	+	2	671	c.308G>A	c.(307-309)aGa>aAa	p.R103K		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	103	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AATCTCAATAGATTAATATCT	0.353												
SAGE1	55511	broad.mit.edu	37	X	134993470	134993470	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:134993470T>A	uc004ezh.3	+	16	2292	c.2125T>A	c.(2125-2127)Tgc>Agc	p.C709S	SAGE1_uc010nry.1_Missense_Mutation_p.C678S|SAGE1_uc011mvv.2_Missense_Mutation_p.C333S	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	709										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGGTATTTCATGCAGAAGTAC	0.453												
