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
NECAP2	55707	broad.mit.edu	37	1	16778338	16778338	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:16778338G>A	uc001ayq.3	+	5	585	c.495G>A	c.(493-495)atG>atA	p.M165I	NECAP2_uc001ayo.3_Missense_Mutation_p.M165I|NECAP2_uc010ocd.2_Missense_Mutation_p.M139I	NM_001145277	NP_001138749	Q9NVZ3	NECP2_HUMAN	Homo sapiens NECAP endocytosis associated 2 (NECAP2), transcript variant 2, mRNA.	165					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTTAGAACATGAAGAAGAAGG	0.602												
HNRNPR	10236	broad.mit.edu	37	1	23648083	23648083	+	Missense_Mutation	SNP	A	A	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:23648083A>C	uc001bgr.4	-	6	908	c.749T>G	c.(748-750)gTt>gGt	p.V250G	HNRNPR_uc010odw.2_Missense_Mutation_p.V212G|HNRNPR_uc009vql.3_Missense_Mutation_p.V111G|HNRNPR_uc001bgp.4_Missense_Mutation_p.V250G|HNRNPR_uc001bgs.4_Missense_Mutation_p.V149G|HNRNPR_uc009vqk.3_Missense_Mutation_p.V149G|HNRNPR_uc010odx.2_Missense_Mutation_p.V90G	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	250	RRM 2.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		AATGGATCCAACAAAAAGTCT	0.363												
PUM1	9698	broad.mit.edu	37	1	31406150	31406150	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:31406150C>T	uc001bsi.1	-	21	3582	c.3469G>A	c.(3469-3471)Ggc>Agc	p.G1157S	PUM1_uc001bsf.1_Missense_Mutation_p.G825S|PUM1_uc001bsh.1_Missense_Mutation_p.G1159S|PUM1_uc001bsj.1_Missense_Mutation_p.G1133S|PUM1_uc010oga.1_Missense_Mutation_p.G1015S|PUM1_uc001bsk.1_Missense_Mutation_p.G1195S|PUM1_uc010ogb.1_Missense_Mutation_p.G1098S	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	1157	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)		ATGTGCTTGCCATAGGTGTAC	0.537												
KCNQ4	9132	broad.mit.edu	37	1	41285881	41285881	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:41285881C>T	uc001cgh.2	+	6	1072	c.990C>T	c.(988-990)caC>caT	p.H330H	KCNQ4_uc001cgi.2_Silent_p.H330H	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	330					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGGAGCAGCACCGGCAGAAGC	0.617												
AMPD1	270	broad.mit.edu	37	1	115215817	115215817	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:115215817G>T	uc001efe.2	-	15	2309	c.2261C>A	c.(2260-2262)gCc>gAc	p.A754D	DENND2C_uc001eez.3_5'Flank|AMPD1_uc001eff.2_Missense_Mutation_p.A750D	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	721					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCGGATTTGGGCTACATTTGT	0.398												
PDE4DIP	9659	broad.mit.edu	37	1	144882550	144882550	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:144882550G>A	uc021ouh.1	-	23	3771	c.3469C>T	c.(3469-3471)Cct>Tct	p.P1157S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.P1157S|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001elv.4_Missense_Mutation_p.P164S	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1157					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTTCCCAGGGGAACCAACC	0.522			T	PDGFRB	MPD							
IQGAP3	128239	broad.mit.edu	37	1	156532968	156532968	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:156532968C>T	uc001fpf.3	-	7	831	c.756G>A	c.(754-756)ctG>ctA	p.L252L	IQGAP3_uc009wsb.1_Silent_p.L209L	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	252					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGCCTGGGCCAGCATCTCTT	0.572												
KCNT2	343450	broad.mit.edu	37	1	196227421	196227421	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:196227421C>A	uc001gtd.1	-	25	3174	c.3114G>T	c.(3112-3114)caG>caT	p.Q1038H	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.Q971H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q1014H|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.Q542H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1038						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			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						TCAGTCGCTGCTGGGTTATTT	0.468												
BTAF1	9044	broad.mit.edu	37	10	93756207	93756207	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:93756207G>A	uc001khr.3	+	23	3489	c.3391G>A	c.(3391-3393)Ggt>Agt	p.G1131S	BTAF1_uc001kht.1_Missense_Mutation_p.G569S	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1131					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCGTTGTGTAGGTGTCATGAG	0.423												
CYP2C19	1562	broad.mit.edu	37	10	96447958	96447958	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:96447958G>A	uc001kjv.4	+	2	734	c.408G>A	c.(406-408)atG>atA	p.M136I	CYP2C19_uc001kjw.4_Missense_Mutation_p.M136I|CYP2C19_uc009xus.1_Missense_Mutation_p.M1I|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	136					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATTTTGGGATGGGGAAGAGGA	0.478												
TDRD1	56165	broad.mit.edu	37	10	115947725	115947725	+	Silent	SNP	A	A	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:115947725A>G	uc001lbg.1	+	1	288	c.135A>G	c.(133-135)ggA>ggG	p.G45G	TDRD1_uc001lbf.3_Silent_p.G36G|TDRD1_uc001lbh.1_Silent_p.G36G|TDRD1_uc001lbi.1_Silent_p.G36G	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	45					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAAGTCCTGGAACACTTCCTA	0.358												
KRTAP5-3	387266	broad.mit.edu	37	11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:1629152C>G	uc001ltw.1	-	0	542	c.464G>C	c.(463-465)tGc>tCc	p.C155S	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	155	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627												
KRTAP5-3	387266	broad.mit.edu	37	11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	rs75371407		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:1629156T>A	uc001ltw.1	-	0	538	c.460A>T	c.(460-462)Agc>Tgc	p.S154C	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	154	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627												
OR51G1	79324	broad.mit.edu	37	11	4945317	4945317	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:4945317C>T	uc010qyr.2	-	0	253	c.253G>A	c.(253-255)Ggc>Agc	p.G85S		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGAAAATGCCCAGCACAGTG	0.483												
OR10A6	390093	broad.mit.edu	37	11	7949483	7949483	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:7949483C>T	uc010rbh.2	-	0	727	c.727G>A	c.(727-729)Gct>Act	p.A243T		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGAGGTGAGCGGCACAGGTG	0.453												
KCNA4	3739	broad.mit.edu	37	11	30033870	30033870	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:30033870C>T	uc021qfi.1	-	0	356	c.356G>A	c.(355-357)aGg>aAg	p.R119K	KCNA4_uc001msk.3_Missense_Mutation_p.R119K	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	119						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACTCAGCTCCCTCAGGATCTT	0.542												
EHBP1L1	254102	broad.mit.edu	37	11	65349460	65349460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:65349460delA	uc001oeo.4	+	8	1582	c.1317delA	c.(1315-1317)ggafs	p.G439fs		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	439										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACACTAAGGGACCAGAGGCGA	0.597												
ODZ4	26011	broad.mit.edu	37	11	78380300	78380300	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:78380300C>T	uc001ozl.4	-	31	7553	c.7090G>A	c.(7090-7092)Ggg>Agg	p.G2364R	ODZ4_uc001ozk.4_Missense_Mutation_p.G589R	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2364					signal transduction	integral to membrane		p.G2364V(1)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGAGGGGTCCCGATGTTGTCA	0.483												
TMEM135	65084	broad.mit.edu	37	11	86778833	86778833	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:86778833C>A	uc001pch.3	+	1	441	c.239C>A	c.(238-240)gCc>gAc	p.A80D	TMEM135_uc010rtt.2_5'UTR|TMEM135_uc001pci.3_Missense_Mutation_p.A80D|TMEM135_uc001pcg.2_Missense_Mutation_p.A80D	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	Homo sapiens transmembrane protein 135 (TMEM135), transcript variant 1, mRNA.	80						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTAATGGGGCCTTGTATATG	0.358												
MTNR1B	4544	broad.mit.edu	37	11	92715081	92715081	+	Missense_Mutation	SNP	G	G	A	rs8192553	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:92715081G>A	uc001pdk.1	+	1	795	c.692G>A	c.(691-693)cGc>cAc	p.R231H		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	231			R -> H (in dbSNP:rs8192553).		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)	CTTCAGGCCCGCAGGAAAGCC	0.582												
ITPR2	3709	broad.mit.edu	37	12	26835518	26835518	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:26835518C>T	uc001rhg.3	-	11	1654	c.1237G>A	c.(1237-1239)Gtt>Att	p.V413I		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	413	MIR 5.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTTAACATAACAGGCCTCTCT	0.388												
CCNT1	904	broad.mit.edu	37	12	49086898	49086898	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:49086898G>A	uc001rsd.4	-	8	2422	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L	CCNT1_uc009zkz.2_Missense_Mutation_p.S415L|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	700					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GCCAGATCTCGAGGAGATTCC	0.507												
ITGB7	3695	broad.mit.edu	37	12	53585372	53585372	+	Missense_Mutation	SNP	G	G	A	rs141610554	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:53585372G>A	uc009zmv.3	-	14	2436	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C	ITGB7_uc001scc.3_Missense_Mutation_p.R789C|ITGB7_uc010snz.2_Non-coding_Transcript	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	789					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTGAAAGCGAGGATTGATG	0.507												
LEMD3	23592	broad.mit.edu	37	12	65633734	65633734	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:65633734G>A	uc001ssl.2	+	6	1973	c.1947G>A	c.(1945-1947)ctG>ctA	p.L649L	LEMD3_uc009zqo.2_Silent_p.L648L	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	649					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GTGTCGTTCTGCGTTACATGA	0.294												
CCT2	10576	broad.mit.edu	37	12	69985894	69985894	+	Silent	SNP	T	T	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:69985894T>G	uc001svb.1	+	7	799	c.705T>G	c.(703-705)gcT>gcG	p.A235A	CCT2_uc010stl.1_Silent_p.A188A	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	235					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGAAAATGCTAAAATTCTTA	0.294												
SCARB1	949	broad.mit.edu	37	12	125294730	125294730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:125294730C>A	uc001ugp.3	-	5	1085	c.832G>T	c.(832-834)Gag>Tag	p.E278*	SCARB1_uc001ugm.4_Nonsense_Mutation_p.E278*|SCARB1_uc001ugn.4_Nonsense_Mutation_p.E278*|SCARB1_uc010tbd.2_Nonsense_Mutation_p.E278*|SCARB1_uc001ugo.4_Nonsense_Mutation_p.E278*	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	278					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CGGCAGGCCTCCGGGCTGTAG	0.552												
MYO16	23026	broad.mit.edu	37	13	109792874	109792874	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr13:109792874delG	uc010agk.2	+	31	4936	c.4314delG	c.(4312-4314)ctgfs	p.L1438fs	MYO16_uc001vqt.1_Frame_Shift_Del_p.L1416fs	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1416	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGAGATGCTGGGGCACGCGG	0.736												
OR4K13	390433	broad.mit.edu	37	14	20502107	20502107	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:20502107G>A	uc010tkz.2	-	0	811	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AACACAGAAAGAATTTTATCT	0.378												
C14orf43	91748	broad.mit.edu	37	14	74203800	74203800	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:74203800G>A	uc010tud.1	-	1	1897	c.1650C>T	c.(1648-1650)gaC>gaT	p.D550D	C14orf43_uc001xot.3_Silent_p.D550D|C14orf43_uc001xou.3_Silent_p.D550D|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GACCCTTCCCGTCCTCATCAA	0.602												
NUDT14	256281	broad.mit.edu	37	14	105642875	105642875	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:105642875A>T	uc010tyn.2	-	3	538	c.424T>A	c.(424-426)Tac>Aac	p.Y142N	NUDT14_uc001yqi.3_Non-coding_Transcript	NM_177533	NP_803877	O95848	NUD14_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 14 (NUDT14), mRNA.	142	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACTCACCAGTATGTGGCGACC	0.642										HNSCC(42;0.11)		
abParts	8755	broad.mit.edu	37	14	106360394	106360394	+	Splice_Site	SNP	G	G	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:106360394G>C	uc021ser.1	-	3734		c.56793_splice	c.e3734+1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron					Parts of antibodies, mostly variable regions.																		CAGTAGGAGGGGCCTTCACAA	0.607												
TJP1	7082	broad.mit.edu	37	15	30000963	30000963	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:30000963G>A	uc001zcr.3	-	24	5125	c.4650C>T	c.(4648-4650)caC>caT	p.H1550H	TJP1_uc010azl.3_Silent_p.H1538H|TJP1_uc001zcq.3_Silent_p.H1474H|TJP1_uc001zcs.3_Silent_p.H1470H	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1550					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCAGAAGATTGTGATTGAATT	0.413												
BAHD1	22893	broad.mit.edu	37	15	40750817	40750817	+	Missense_Mutation	SNP	C	C	T	rs144910683		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:40750817C>T	uc001zlu.2	+	1	225	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	BAHD1_uc001zlt.2_Missense_Mutation_p.R52C|BAHD1_uc010bbp.1_Missense_Mutation_p.R52C|BAHD1_uc001zlv.2_Missense_Mutation_p.R52C	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	52					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CACAGGGCGCCGCAAGAATTA	0.632												
SLCO3A1	28232	broad.mit.edu	37	15	92690225	92690225	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:92690225C>T	uc002bqx.2	+	7	1725	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	SLCO3A1_uc002bqy.2_Silent_p.G508G|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.G450G	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	508	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			ATCTCACGGGCTGTGCGTGCC	0.557												
SSTR5	6755	broad.mit.edu	37	16	1129429	1129429	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr16:1129429C>T	uc021taf.1	+	1	632	c.561C>T	c.(559-561)aaC>aaT	p.N187N	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.N187N	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	187					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GTACCTGCAACGCCAGCTGGC	0.692												
MYH8	4626	broad.mit.edu	37	17	10295897	10295897	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr17:10295897G>A	uc002gmm.2	-	37	5625	c.5530C>T	c.(5530-5532)Cgg>Tgg	p.R1844W	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1844					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATGTTTCCGTAAACCTTTA	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling			
STAT3	6774	broad.mit.edu	37	17	40474479	40474479	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr17:40474479G>A	uc002hzl.1	-	20	2162	c.1922C>T	c.(1921-1923)aCa>aTa	p.T641I	STAT3_uc002hzk.1_Missense_Mutation_p.T641I|STAT3_uc002hzm.1_Missense_Mutation_p.T641I|STAT3_uc010wgh.1_Missense_Mutation_p.T543I|STAT3_uc002hzn.1_Missense_Mutation_p.T641I	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	641	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTGCTGCTTTGTGTATGGTTC	0.463									Hyperimmunoglobulin E Recurrent Infection Syndrome			
LRRC30	339291	broad.mit.edu	37	18	7231759	7231759	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr18:7231759T>C	uc010wzk.2	+	0	623	c.623T>C	c.(622-624)cTg>cCg	p.L208P		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	208										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATCCAGCACCTGGCCAGCCTG	0.562												
DCC	1630	broad.mit.edu	37	18	50278484	50278484	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr18:50278484C>T	uc002lfe.2	+	1	768	c.152C>T	c.(151-153)aCa>aTa	p.T51I	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	51	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GATGCCGTCACAATGCGGGGA	0.498												
MUC16	94025	broad.mit.edu	37	19	9006685	9006685	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:9006685C>T	uc002mkp.3	-	43	39767	c.39563G>A	c.(39562-39564)gGc>gAc	p.G13188D	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G5D|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13190	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCCTGGAGCCAGGGTGACC	0.527												
CYP2A13	1553	broad.mit.edu	37	19	41600897	41600897	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:41600897C>T	uc002opt.3	+	7	1204	c.1195C>T	c.(1195-1197)Ctg>Ttg	p.L399L		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	399					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GGGCTCCGTGCTGAGAGACCC	0.557												
PSG8	440533	broad.mit.edu	37	19	43258694	43258694	+	Missense_Mutation	SNP	C	C	T	rs148019273	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:43258694C>T	uc002ouo.2	-	4	1132	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.R345H|PSG8_uc010ein.3_Missense_Mutation_p.R223H|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	345	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCTCCTGAACGGTAATAGGT	0.473												
CEACAM16	388551	broad.mit.edu	37	19	45208902	45208902	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:45208902G>T	uc010xxd.2	+	4	910	c.704G>T	c.(703-705)cGc>cTc	p.R235L		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	235										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TCCACCACCCGCACAGGCTGC	0.612												
TEAD2	8463	broad.mit.edu	37	19	49862740	49862740	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:49862740G>A	uc002pnh.3	-	2	355	c.249C>T	c.(247-249)atC>atT	p.I83I	TEAD2_uc002png.3_Silent_p.I83I|TEAD2_uc002pni.3_Silent_p.I83I|TEAD2_uc002pnj.3_Silent_p.I83I|TEAD2_uc010yao.2_5'UTR|TEAD2_uc010emw.3_Silent_p.I83I	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	83					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TGTAGCGGGCGATCAGTTCAT	0.512												
MXD1	4084	broad.mit.edu	37	2	70164461	70164461	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:70164461T>C	uc002sfy.3	+	4	703	c.413T>C	c.(412-414)aTt>aCt	p.I138T	MXD1_uc010yqp.2_Missense_Mutation_p.I138T|MXD1_uc010yqs.2_Missense_Mutation_p.I128T|MXD1_uc010yqq.2_Missense_Mutation_p.I75T|MXD1_uc010yqr.2_Non-coding_Transcript|MXD1_uc021vix.1_5'Flank	NM_002357	NP_002348	Q05195	MAD1_HUMAN	Homo sapiens MAX dimerization protein 1 (MXD1), transcript variant 1, mRNA.	138					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						AAGCTGGGCATTGAGAGGATC	0.577												
RAB11FIP5	26056	broad.mit.edu	37	2	73316366	73316366	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:73316366C>T	uc002siu.4	-	1	750	c.509G>A	c.(508-510)cGc>cAc	p.R170H	RAB11FIP5_uc002sit.4_Missense_Mutation_p.R92H	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	170					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAGGTTGTTGCGCGTGAACTG	0.532												
C2orf51	200523	broad.mit.edu	37	2	88828848	88828848	+	Silent	SNP	G	G	A	rs148580273		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:88828848G>A	uc002stb.2	+	3	541	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.	133						nucleus				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						CTGACTTTCCGTGCCTCGTGG	0.572												
NMS	129521	broad.mit.edu	37	2	101089991	101089991	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:101089991G>A	uc002tan.1	+	2	180	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	58					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.R58S(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CCTCTTTCTCGCCAACCTAAG	0.343												
TTN	7273	broad.mit.edu	37	2	179457532	179457532	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:179457532G>A	uc021vsy.1	-	248	51835	c.51610C>T	c.(51610-51612)Ccg>Tcg	p.P17204S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P10899S|TTN_uc021vta.1_Missense_Mutation_p.P10832S|TTN_uc021vtb.1_Missense_Mutation_p.P10707S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18131	Fibronectin type-III 24.						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)			ACTGGCTCCGGAACATGAGCT	0.408												
FN1	2335	broad.mit.edu	37	2	216288171	216288171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:216288171delG	uc002vfa.3	-	8	1561	c.1295delC	c.(1294-1296)actfs	p.T432fs	FN1_uc002vfc.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfe.3_Frame_Shift_Del_p.T432fs|FN1_uc002vff.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfg.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfh.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfi.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfj.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfb.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfl.3_Frame_Shift_Del_p.T432fs	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	432	Collagen-binding.|Fibronectin type-II 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTGCAATCAGTGTAATTGTG	0.488												
ZFAND2B	130617	broad.mit.edu	37	2	220073015	220073015	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:220073015A>G	uc002vka.3	+	4	644	c.472A>G	c.(472-474)Aca>Gca	p.T158A	ZFAND2B_uc010zkt.2_Missense_Mutation_p.T158A|ZFAND2B_uc010fwd.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vjz.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vkb.1_Missense_Mutation_p.T49A	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.	158						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGGCTTCTACAAGCACTGT	0.552												
SP110	3431	broad.mit.edu	37	2	231042927	231042927	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:231042927G>T	uc002vqg.3	-	12	1633	c.1393C>A	c.(1393-1395)Ccc>Acc	p.P465T	SP110_uc002vqh.3_Missense_Mutation_p.P465T|SP110_uc002vqi.4_Missense_Mutation_p.P465T|SP110_uc010fxk.3_Missense_Mutation_p.P463T|SP110_uc021vxx.1_Missense_Mutation_p.P471T|SP110_uc010fxj.3_Missense_Mutation_p.P108T	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	465	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CAGGTCACGGGGAGCTTAGAA	0.413												
BMP2	650	broad.mit.edu	37	20	6758901	6758901	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr20:6758901A>T	uc002wmu.1	+	2	1141	c.356A>T	c.(355-357)gAa>gTa	p.E119V		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	119					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GAATCTTTGGAAGAACTACCA	0.363												
PLK1S1	55857	broad.mit.edu	37	20	21143040	21143040	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr20:21143040G>A	uc002wsb.3	+	4	1067	c.934G>A	c.(934-936)Gag>Aag	p.E312K	PLK1S1_uc010zsh.2_Missense_Mutation_p.E209K|PLK1S1_uc010zsi.2_Missense_Mutation_p.E179K|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	312					spindle organization	centrosome	protein kinase binding										TATTGAAGTTGAGGAAAAAAG	0.448												
RYBP	23429	broad.mit.edu	37	3	72427619	72427619	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:72427619C>T	uc003dpe.3	-	3	574	c.574G>A	c.(574-576)Ggg>Agg	p.G192R		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	Homo sapiens RING1 and YY1 binding protein (RYBP), mRNA.	202	Interaction with E4TF1B.|Ser-rich.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CTCTCTGACCCCGAGCTGCTC	0.512												
NUDT16	131870	broad.mit.edu	37	3	131101062	131101062	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:131101062C>T	uc003eog.2	+	1	351	c.311C>T	c.(310-312)cCa>cTa	p.P104L	LOC339874_uc003eoc.2_5'Flank|NUDT16_uc021xeb.1_Missense_Mutation_p.P58L|NUDT16_uc021xec.1_Missense_Mutation_p.P104L|NUDT16_uc011bln.2_Missense_Mutation_p.P58L	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 16 (NUDT16), transcript variant 2, mRNA.	104	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						GGGTCAGGGCCACGCGTTGTG	0.692												
SPSB4	92369	broad.mit.edu	37	3	140866045	140866045	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:140866045G>A	uc003ett.3	+	2	1001	c.756G>A	c.(754-756)caG>caA	p.Q252Q	SPSB4_uc010hum.3_3'UTR	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	252	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						TGGGCCGCCAGCGCCTGCAGG	0.617												
DRD5	1816	broad.mit.edu	37	4	9783859	9783859	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:9783859G>A	uc003gmb.4	+	0	602	c.206G>A	c.(205-207)cGc>cAc	p.R69H		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	69					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GTGCGGAGCCGCCACCTGCGC	0.647												
FGFBP1	9982	broad.mit.edu	37	4	15938124	15938124	+	Silent	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:15938124G>T	uc003gom.3	-	2	427	c.132C>A	c.(130-132)ggC>ggA	p.G44G	FGFBP1_uc021xml.1_Silent_p.G44G	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	44					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TCTGGGTGTTGCCCAGAGTGT	0.517												
RFC1	5981	broad.mit.edu	37	4	39306546	39306546	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:39306546C>A	uc003gty.2	-	14	2141	c.2001G>T	c.(1999-2001)gaG>gaT	p.E667D	RFC1_uc003gtx.2_Missense_Mutation_p.E666D	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	667					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGTATCCCAACTCCTAATCAA	0.433												
LIMCH1	22998	broad.mit.edu	37	4	41621353	41621353	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:41621353G>A	uc003gvz.4	+	5	771	c.354G>A	c.(352-354)acG>acA	p.T118T	LIMCH1_uc003gvt.1_Silent_p.T118T|LIMCH1_uc003gwe.4_Silent_p.T277T|LIMCH1_uc003gvu.4_Silent_p.T277T|LIMCH1_uc003gvv.4_Silent_p.T277T|LIMCH1_uc003gvw.4_Silent_p.T277T|LIMCH1_uc003gvx.4_Silent_p.T277T|LIMCH1_uc003gvy.4_Silent_p.T118T|LIMCH1_uc003gwa.4_Silent_p.T118T|LIMCH1_uc011byu.2_Silent_p.T123T|LIMCH1_uc003gwc.4_Silent_p.T123T|LIMCH1_uc003gwd.4_Silent_p.T123T|LIMCH1_uc011byv.2_Silent_p.T28T|LIMCH1_uc003gwb.1_Silent_p.T125T	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	277	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GCAATCAGACGGCCTACGTCC	0.567												
UGT2B11	10720	broad.mit.edu	37	4	70080048	70080048	+	Silent	SNP	A	A	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:70080048A>C	uc003heh.3	-	0	402	c.393T>G	c.(391-393)gtT>gtG	p.V131V	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	131					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTTATTTGAAACTACATCTT	0.343												
FRAS1	80144	broad.mit.edu	37	4	79295398	79295398	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:79295398A>T	uc003hlb.2	+	24	3584	c.3144A>T	c.(3142-3144)aaA>aaT	p.K1048N	FRAS1_uc003hkw.3_Missense_Mutation_p.K1048N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1047					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAAAGCACAAATGCACAGGTA	0.473												
NDST4	64579	broad.mit.edu	37	4	115767016	115767016	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:115767016A>G	uc003ibu.3	-	9	2757	c.2078T>C	c.(2077-2079)cTc>cCc	p.L693P	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	693	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGGGTCAATGAGGATGGTGAT	0.428												
ODZ3	55714	broad.mit.edu	37	4	183658027	183658027	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:183658027G>T	uc003ivd.1	+	15	3109	c.3034G>T	c.(3034-3036)Gca>Tca	p.A1012S	ODZ3_uc003ive.1_Missense_Mutation_p.A418S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1012					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)		TTCCAGAGCTGCAGGGTATAA	0.388												
TRIML1	339976	broad.mit.edu	37	4	189063477	189063477	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:189063477G>C	uc003izm.1	+	2	691	c.576G>C	c.(574-576)gaG>gaC	p.E192D	TRIML1_uc003izn.1_5'Flank	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	192					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGAAGGAAGAGGAGCAGCTGC	0.438												
G3BP1	10146	broad.mit.edu	37	5	151180343	151180343	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:151180343G>T	uc003lun.3	+	10	1278	c.1107G>T	c.(1105-1107)ttG>ttT	p.L369F	G3BP1_uc003lum.3_Missense_Mutation_p.L369F|G3BP1_uc011dcu.2_Missense_Mutation_p.L187F|G3BP1_uc010jhz.3_Missense_Mutation_p.L187F|G3BP1_uc003luq.3_Missense_Mutation_p.L37F	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	369	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TGGTGGAGTTGCGCATTAACA	0.388												
GRIA1	2890	broad.mit.edu	37	5	153030021	153030021	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:153030021C>T	uc011dcy.2	+	3	649	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	GRIA1_uc003lva.4_Missense_Mutation_p.R198W|GRIA1_uc003luy.4_Missense_Mutation_p.R198W|GRIA1_uc003luz.4_Missense_Mutation_p.R103W|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R118W|GRIA1_uc011dcx.2_Missense_Mutation_p.R129W|GRIA1_uc011dcz.2_Missense_Mutation_p.R208W|GRIA1_uc010jia.1_Missense_Mutation_p.R178W	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	198					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.R208C(2)|p.R208R(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAAAAGGAGCGGCTGGTGGT	0.542												
CCNG1	900	broad.mit.edu	37	5	162869506	162869506	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:162869506C>T	uc003lzb.3	+	5	1057	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	CCNG1_uc011dek.1_Missense_Mutation_p.R139W|CCNG1_uc011del.2_Missense_Mutation_p.R139W|CCNG1_uc003lzc.3_Non-coding_Transcript	NM_199246	NP_954854	P51959	CCNG1_HUMAN	Homo sapiens cyclin G1 (CCNG1), transcript variant 2, mRNA.	275				RQLKHSYYRITHLPTIPEMVP -> LKWSLNWIITAPKNFS EAFLHNLVLWIP (in Ref. 4; AAB03903).	cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		GCGTACTGCACGGCAATTGAA	0.378												
PPP1R11	6992	broad.mit.edu	37	6	30035220	30035220	+	Silent	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:30035220C>A	uc003npb.3	+	0	289	c.33C>A	c.(31-33)acC>acA	p.T11T	PPP1R11_uc010jrw.3_Non-coding_Transcript|PPP1R11_uc003npc.3_Non-coding_Transcript	NM_021959	NP_068778	O60927	PP1RB_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 11 (PPP1R11), mRNA.	11						soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						TGAGCGAGACCGTCACTGAGA	0.632												
ENPP4	22875	broad.mit.edu	37	6	46107333	46107333	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:46107333G>C	uc003oxy.3	+	1	272	c.13G>C	c.(13-15)Gta>Cta	p.V5L		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	5						integral to membrane	hydrolase activity	p.L4L(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GAAGTTATTAGTAATACTTTT	0.343												
COL9A1	1297	broad.mit.edu	37	6	71004007	71004007	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:71004007C>T	uc003pfg.4	-	4	718	c.559G>A	c.(559-561)Gtg>Atg	p.V187M		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	187	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.V187L(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTCCTCTCCACGCCAATCATG	0.433												
TTK	7272	broad.mit.edu	37	6	80741263	80741263	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:80741263G>A	uc003pjc.3	+	13	1712	c.1601G>A	c.(1600-1602)gGa>gAa	p.G534E	TTK_uc003pjb.4_Missense_Mutation_p.G533E	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	534	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATAGGAAGTGGAGGTTCAAGC	0.279												
TMEM181	57583	broad.mit.edu	37	6	159050767	159050767	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:159050767G>A	uc003qrm.4	+	14	1620	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K		NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	Homo sapiens transmembrane protein 181 (TMEM181), mRNA.	537					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		ACCACCAGCCGAGTTCTTATC	0.542												
FKBP9	11328	broad.mit.edu	37	7	33044873	33044873	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:33044873G>A	uc011kal.2	+	10	1963	c.1782G>A	c.(1780-1782)atG>atA	p.M594I	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Missense_Mutation_p.M541I|FKBP9_uc011kam.2_Missense_Mutation_p.M309I	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	541					protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGAAGAATATGTTCACCAACC	0.493												
STK17A	9263	broad.mit.edu	37	7	43622866	43622866	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:43622866C>T	uc003tih.3	+	0	175	c.24C>T	c.(22-24)ggC>ggT	p.G8G		NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	Homo sapiens serine/threonine kinase 17a (STK17A), mRNA.	8					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AGAAGCCAGGCAGCGGCGGCT	0.766												
SLC26A5	375611	broad.mit.edu	37	7	103048353	103048353	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:103048353A>T	uc003vbz.3	-	7	1095	c.833T>A	c.(832-834)tTt>tAt	p.F278Y	SLC26A5_uc003vbt.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbu.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbv.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.F278Y	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	278					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TCTCTCATTAAACTCCTTGCC	0.468												
CFTR	1080	broad.mit.edu	37	7	117306983	117306983	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:117306983C>T	uc003vjd.3	+	26	4396	c.4264C>T	c.(4264-4266)Cgg>Tgg	p.R1422W	CFTR_uc011knq.2_Missense_Mutation_p.R828W	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1422	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAACAAAGTGCGGCAGTACGA	0.552									Cystic Fibrosis			
KIAA1549	57670	broad.mit.edu	37	7	138546043	138546043	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:138546043G>C	uc011kql.2	-	15	5138	c.5089C>G	c.(5089-5091)Ctc>Gtc	p.L1697V	KIAA1549_uc011kqi.2_Missense_Mutation_p.L481V|KIAA1549_uc011kqk.2_Missense_Mutation_p.L481V|KIAA1549_uc011kqj.2_Missense_Mutation_p.L1697V	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1697						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGGCCACGAGGGCAAAGGCG	0.697			O	BRAF	pilocytic astrocytoma							
PARP12	64761	broad.mit.edu	37	7	139727128	139727128	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:139727128C>A	uc003vvl.1	-	9	2450	c.1576G>T	c.(1576-1578)Gtt>Ttt	p.V526F	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	526	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ATCTTCTGAACAAAGTAGAAA	0.512												
OR2A14	135941	broad.mit.edu	37	7	143826811	143826811	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:143826811C>T	uc011kua.2	+	0	606	c.606C>T	c.(604-606)tgC>tgT	p.C202C		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TTGCAGCCTGCGTGTTCATCC	0.577												
CNTNAP2	26047	broad.mit.edu	37	7	147092850	147092850	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:147092850G>C	uc003weu.2	+	9	2164	c.1648G>C	c.(1648-1650)Gac>Cac	p.D550H	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	550	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.D550N(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGTCAGCATTGACATGTGTGC	0.428										HNSCC(39;0.1)		
DLC1	10395	broad.mit.edu	37	8	13251148	13251148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:13251148G>A	uc003wwm.2	-	3	1672	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	DLC1_uc003wwn.3_Nonsense_Mutation_p.R410*|DLC1_uc011kxy.2_Nonsense_Mutation_p.R410*	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	410					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.R410L(4)|p.R410*(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAATTTACTCGTGTCTGATTT	0.423												
MTUS1	57509	broad.mit.edu	37	8	17573333	17573333	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:17573333A>G	uc003wxv.3	-	4	3001	c.2527T>C	c.(2527-2529)Tat>Cat	p.Y843H	MTUS1_uc003wxt.3_Missense_Mutation_p.Y90H|MTUS1_uc011kyg.2_5'UTR|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.Y789H	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	843						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGCTTCAAATAAAAGGATCCT	0.428												
ATAD2	29028	broad.mit.edu	37	8	124382139	124382139	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:124382139C>T	uc003yqh.4	-	6	961	c.853G>A	c.(853-855)Gat>Aat	p.D285N	ATAD2_uc011lii.2_Missense_Mutation_p.D76N|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.D285N	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	285	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			tcttctccatcttcttcatct	0.358												
FREM1	158326	broad.mit.edu	37	9	14789086	14789086	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:14789086G>A	uc003zlm.3	-	23	4824	c.4008C>T	c.(4006-4008)tcC>tcT	p.S1336S	FREM1_uc010mic.3_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1336					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCATGCCAGGGGAGAGAGGAA	0.493												
TEK	7010	broad.mit.edu	37	9	27205000	27205000	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:27205000G>A	uc011lno.2	+	12	2614	c.2172G>A	c.(2170-2172)ctG>ctA	p.L724L	TEK_uc003zqi.4_Silent_p.L767L|TEK_uc011lnp.2_Silent_p.L620L|TEK_uc003zqj.1_Silent_p.L701L	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	767	Fibronectin type-III 3.		A -> T (in dbSNP:rs4631561).		angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P723T(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TGGCCTTTCTGATCATATTGC	0.517												
UBAP1	51271	broad.mit.edu	37	9	34234331	34234331	+	Frame_Shift_Del	DEL	A	A	-			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:34234331delA	uc022bfy.1	+	3	550	c.152delA	c.(151-153)gaafs	p.E51fs	UBAP1_uc010mka.2_Intron|UBAP1_uc003zty.3_Frame_Shift_Del_p.E51fs|UBAP1_uc022bfz.1_Frame_Shift_Del_p.E51fs|UBAP1_uc003ztx.3_Frame_Shift_Del_p.E51fs|UBAP1_uc011loj.2_Frame_Shift_Del_p.E115fs|UBAP1_uc011loi.2_Intron|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Frame_Shift_Del_p.E51fs	NM_001171203	NP_057609	Q9NZ09	UBAP1_HUMAN	Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 2, mRNA.	51	UMA.					cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GTTGTCAGAGAAGTACAGGTA	0.338												
VPS13A	23230	broad.mit.edu	37	9	79985216	79985216	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:79985216T>C	uc004akr.3	+	63	8971	c.8711T>C	c.(8710-8712)cTa>cCa	p.L2904P	VPS13A_uc004akp.4_Missense_Mutation_p.L2904P|VPS13A_uc004akq.4_Missense_Mutation_p.L2904P|VPS13A_uc004aks.3_Missense_Mutation_p.L2865P	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2904					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAATGGCACTAGGACTTAAG	0.383												
FOXR2	139628	broad.mit.edu	37	X	55650313	55650313	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:55650313C>T	uc004duo.3	+	0	481	c.169C>T	c.(169-171)Cca>Tca	p.P57S		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	57					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AATGAAGCCCCCAGAAATGCC	0.517												
YIPF6	286451	broad.mit.edu	37	X	67742720	67742720	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:67742720C>A	uc004dwz.3	+	5	838	c.553C>A	c.(553-555)Ctt>Att	p.L185I	YIPF6_uc011mph.2_Missense_Mutation_p.L142I	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.	185						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CATGGTTCGGCTTTTTGTGGT	0.408												
FAM199X	139231	broad.mit.edu	37	X	103434406	103434406	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:103434406T>C	uc004elw.3	+	5	1425	c.1114T>C	c.(1114-1116)Tcc>Ccc	p.S372P	FAM199X_uc004elx.3_Missense_Mutation_p.S146P	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	Homo sapiens family with sequence similarity 199, X-linked (FAM199X), mRNA.	372										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGAGGTGCTGTCCTTGAAAGT	0.473												
COL4A5	1287	broad.mit.edu	37	X	107911614	107911614	+	Missense_Mutation	SNP	G	G	A	rs104886391		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:107911614G>A	uc022ccg.1	+	40	3872	c.3670G>A	c.(3670-3672)Gaa>Aaa	p.E1224K	COL4A5_uc004enz.1_Missense_Mutation_p.E1224K	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1224	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCAAAGGGCGAACCAGGCTT	0.532									Alport syndrome with Diffuse Leiomyomatosis			
ZNF275	10838	broad.mit.edu	37	X	152613030	152613030	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:152613030C>T	uc011myn.2	+	1	1600	c.698C>T	c.(697-699)cCc>cTc	p.P233L	ZNF275_uc004fhg.2_Missense_Mutation_p.P296L|ZNF275_uc022cht.1_Missense_Mutation_p.P233L|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	296						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACGGGTGTCCCCACTGCGGC	0.682												
SLC10A3	8273	broad.mit.edu	37	X	153716308	153716308	+	Silent	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:153716308C>A	uc022cig.1	-	0	972	c.972G>T	c.(970-972)ctG>ctT	p.L324L	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Silent_p.L295L|SLC10A3_uc004flq.3_Silent_p.L324L|SLC10A3_uc004flp.3_Silent_p.L324L	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	324					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGGGTCCCCAGGATCTTGG	0.607												
