Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DNAH8	1769	broad.mit.edu	37	6	38820534	38820534	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr6:38820534G>A	ENST00000359357.3	+	38	5134	c.4880G>A	c.(4879-4881)cGc>cAc	p.R1627H	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1844H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1627H					dynein, axonemal, heavy chain 8									p.R1627H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GACTATGATCGCATCATGGCC	0.378000													8	30					0	0	0.003080	0	0
RBM11	54033	broad.mit.edu	37	21	15599442	15599442	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:15599442G>C	ENST00000400577.3	+	5	683	c.674G>C	c.(673-675)gGa>gCa	p.G225A	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	225							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CTTGAGGCTGGACCCAGCTCA	0.423000													42	229					0	0	0.003610	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047386	75047386	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr15:75047386G>T	ENST00000343932.4	+	7	1571	c.1508G>T	c.(1507-1509)cGc>cTc	p.R503L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	503					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AAGCACGCCCGCTGTGAACAT	0.627000													7	34					0.00307968	0.00664212	0.003080	1	0
MYO1H	283446	broad.mit.edu	37	12	109849746	109849746	+	Silent	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:109849746G>C	ENST00000310903.5	+	14	1516	c.1410G>C	c.(1408-1410)ctG>ctC	p.L470L	MYO1H_ENST00000431443.2_Silent_p.L480L			B4DNW6	B4DNW6_HUMAN	myosin IH	189						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TGAGTTTCCTGGAGAAATTGG	0.433000													3	10					0	0	0.000602	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261779	23261779	+	Silent	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr15:23261779G>A	ENST00000450802.3	+	12	989	c.891G>A	c.(889-891)ccG>ccA	p.P297P																								CCTTGCCCCCGGAGCCCCCAG	0.567000													22	67					0	0	0.001523	0	0
PKP4	8502	broad.mit.edu	37	2	159530275	159530275	+	Splice_Site	SNP	T	T	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:159530275T>G	ENST00000389757.3	+	18	3134		c.e18+2		PKP4_ENST00000389759.3_Splice_Site|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4						cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TATAAAAAGGTAACCTACAAG	0.388000										HNSCC(62;0.18)			19	34					0	0	0.006122	0	0
CATSPERG	57828	broad.mit.edu	37	19	38860883	38860883	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:38860883C>A	ENST00000409235.3	+	28	3313	c.3198C>A	c.(3196-3198)gcC>gcA	p.A1066A	CATSPERG_ENST00000410018.1_Silent_p.A1026A|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1066					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCAAGCGGGCCCTTTTCATCA	0.597000													13	18					4.3838e-07	1.0289e-06	0.001855	1	0
SLCO1B3	28234	broad.mit.edu	37	12	21069131	21069131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:21069131G>C	ENST00000381545.3	+	16	2278	c.2059G>C	c.(2059-2061)Gat>Cat	p.D687H	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D687H	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	687					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGCTGGAACAGATAGTAAAAC	0.348000													19	34					0	0	0.001523	0	0
RBM11	54033	broad.mit.edu	37	21	15599531	15599531	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:15599531G>A	ENST00000400577.3	+	5	772	c.763G>A	c.(763-765)Gat>Aat	p.D255N	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	255							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GCAAACAAGTGATAGTGATAG	0.388000													22	130					0	0	0.001882	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253871	134253871	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr11:134253871C>T	ENST00000524765.1	-	3	4868	c.324G>A	c.(322-324)acG>acA	p.T108T	B3GAT1_ENST00000312527.4_Silent_p.T108T|B3GAT1_ENST00000392580.1_Silent_p.T108T|B3GAT1_ENST00000537389.1_Silent_p.T121T			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	108					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGTGCAGCAGCGTGTTGGCCA	0.716000													10	7					0	0	0.000443	0	0
KRT83	3889	broad.mit.edu	37	12	52709747	52709747	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:52709747T>A	ENST00000293670.3	-	7	1254	c.1192A>T	c.(1192-1194)Atg>Ttg	p.M398L	AC121757.1_ENST00000594763.1_Intron	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	398	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGGAGTTCATCACCTCCTGG	0.637000													20	95					0	0	0.001216	0	0
KRT13	3860	broad.mit.edu	37	17	39658642	39658642	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:39658642C>T	ENST00000246635.3	-	6	1274	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	KRT13_ENST00000336861.3_Missense_Mutation_p.E410K|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.E410K	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	410	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCCTGGCCCTCGAGCAGGCTG	0.592000													40	119					0	0	0.001485	0	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000													4	59					0	0	0.003080	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222763	140222763	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:140222763C>A	ENST00000531613.1	+	1	1857	c.1857C>A	c.(1855-1857)cgC>cgA	p.R619R	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.R619R|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCCCTCGCATCCCGTTCC	0.672000													48	111					1.61863e-15	4.2489e-15	0.003610	1	0
CX3CR1	1524	broad.mit.edu	37	3	39306963	39306963	+	Silent	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:39306963C>G	ENST00000541347.1	-	2	1277	c.1038G>C	c.(1036-1038)acG>acC	p.T346T	CX3CR1_ENST00000399220.2_Silent_p.T346T|CX3CR1_ENST00000358309.3_Silent_p.T378T|CX3CR1_ENST00000542107.1_Silent_p.T346T	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	346					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CTCCATCACTCGTGTGGTAAG	0.488000													43	84					0	0	0.003610	0	0
BRCA2	675	broad.mit.edu	37	13	32907432	32907432	+	Missense_Mutation	SNP	C	C	T	rs80358469		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr13:32907432C>T	ENST00000544455.1	+	10	2044	c.1817C>T	c.(1816-1818)cCg>cTg	p.P606L	BRCA2_ENST00000380152.3_Missense_Mutation_p.P606L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	606					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAAAATACCGAAAGACCAA	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			6	33					0	0	0.001168	0	0
NLRP2	55655	broad.mit.edu	37	19	55493571	55493571	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:55493571C>T	ENST00000543010.1	+	6	648	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	NLRP2_ENST00000391721.4_Missense_Mutation_p.R145W|NLRP2_ENST00000339757.7_Missense_Mutation_p.R147W|NLRP2_ENST00000538819.1_Missense_Mutation_p.R145W|NLRP2_ENST00000537859.1_Missense_Mutation_p.R147W|NLRP2_ENST00000448584.2_Missense_Mutation_p.R169W|NLRP2_ENST00000263437.6_Missense_Mutation_p.R166W|NLRP2_ENST00000427260.2_Missense_Mutation_p.R146W	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	169					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACGAAGTTCCGGGAGATGTG	0.483000													96	162					0	0	0.003610	0	0
ASMTL	8623	broad.mit.edu	37	X	1538002	1538002	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:1538002C>T	ENST00000534940.1	-	10	1302	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	ASMTL_ENST00000381333.4_Silent_p.A401A|ASMTL_ENST00000416733.2_Silent_p.A341A|ASMTL_ENST00000381317.3_Silent_p.A417A	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	417	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTGGTAGTACGCATCCTGGA	0.667000													7	40					0	0	0.003080	0	0
CUBN	8029	broad.mit.edu	37	10	16918894	16918894	+	Splice_Site	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:16918894A>T	ENST00000377833.4	-	57	9172		c.e57+1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGCTACTCACAGATTATCC	0.418000													10	53					0	0	0.000443	0	0
HERC2	8924	broad.mit.edu	37	15	28491924	28491924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr15:28491924C>T	ENST00000261609.7	-	22	3463	c.3355G>A	c.(3355-3357)Gcg>Acg	p.A1119T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1119					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCACCTCCGCGAAGTGCCGC	0.488000													14	47					0	0	0.003163	0	0
NLRP4	147945	broad.mit.edu	37	19	56370340	56370340	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:56370340A>G	ENST00000301295.6	+	3	2003	c.1581A>G	c.(1579-1581)atA>atG	p.I527M	NLRP4_ENST00000587891.1_Missense_Mutation_p.I452M|NLRP4_ENST00000346986.5_Missense_Mutation_p.I527M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	527							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCAAGAGATAAAGCAGCAAA	0.428000													15	70					0	0	0.003163	0	0
AMER2	219287	broad.mit.edu	37	13	25743972	25743972	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr13:25743972G>T	ENST00000357816.2	-	3	1904	c.1429C>A	c.(1429-1431)Ctg>Atg	p.L477M	AMER2_ENST00000381853.3_Missense_Mutation_p.L477M|AMER2_ENST00000515384.1_Missense_Mutation_p.L596M					APC membrane recruitment protein 2																		GGTGTTCGCAGTGGACAGGTG	0.572000													60	58					1.53582e-20	4.1405e-20	0.003610	1	0
SLC38A9	153129	broad.mit.edu	37	5	54968452	54968452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:54968452G>A	ENST00000539768.1	-	2	184	c.185C>T	c.(184-186)tCt>tTt	p.S62F	SLC38A9_ENST00000512595.1_Missense_Mutation_p.S35F|SLC38A9_ENST00000416547.2_Intron|SLC38A9_ENST00000396865.2_Missense_Mutation_p.S62F|SLC38A9_ENST00000318672.3_Missense_Mutation_p.S62F|SLC38A9_ENST00000515629.1_5'UTR			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	62					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GTTCATGGCAGAGGCATGGTC	0.413000													16	61					0	0	0.004007	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76496003	76496003	+	Splice_Site	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:76496003G>A	ENST00000307431.8	+	10	1865		c.e10+1		CNTNAP4_ENST00000478060.1_Splice_Site|CNTNAP4_ENST00000476707.1_Splice_Site|CNTNAP4_ENST00000377504.4_Splice_Site|CNTNAP4_ENST00000469589.1_Splice_Site	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4						cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TATTTTGGAGGTAAGAATAGG	0.473000													8	25					0	0	0.003080	0	0
AMY2B	280	broad.mit.edu	37	1	104115830	104115830	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:104115830G>C	ENST00000361355.4	+	5	1077	c.461G>C	c.(460-462)gGt>gCt	p.G154A	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	154					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTTAATGATGGTAAATGTAAA	0.408000													64	542					0	0	0.003610	0	0
NR1H4	9971	broad.mit.edu	37	12	100955674	100955674	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:100955674G>T	ENST00000548884.1	+	10	1619	c.1078G>T	c.(1078-1080)Gaa>Taa	p.E360*	NR1H4_ENST00000392986.3_Nonsense_Mutation_p.E364*|NR1H4_ENST00000188403.7_Nonsense_Mutation_p.E370*|NR1H4_ENST00000551379.1_Nonsense_Mutation_p.E374*|NR1H4_ENST00000549996.1_Nonsense_Mutation_p.E313*	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	374	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TATCTCTGATGAATATATAAC	0.333000													7	33					2.7689e-08	6.57613e-08	0.001984	1	0
ABCC9	10060	broad.mit.edu	37	12	21958120	21958120	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:21958120C>A	ENST00000261201.4	-	38	4637	c.4638G>T	c.(4636-4638)atG>atT	p.M1546I	ABCC9_ENST00000345162.2_Missense_Mutation_p.M1510I|ABCC9_ENST00000261200.4_Intron	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1546	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.M1546I(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACTTGTTGGTCATCACCAAAG	0.438000													25	56					4.26978e-12	1.07825e-11	0.003330	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													3	87					0	0	0.004672	0	0
YLPM1	56252	broad.mit.edu	37	14	75264441	75264441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:75264441G>A	ENST00000325680.7	+	5	2565	c.2441G>A	c.(2440-2442)cGg>cAg	p.R814Q	YLPM1_ENST00000238571.3_Missense_Mutation_p.R619Q|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	619	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATGATTCCCCGGGGGCCAGCA	0.532000													11	36					0	0	0.000978	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													6	54					0	0	0.001984	0	0
CA2	760	broad.mit.edu	37	8	86385963	86385963	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:86385963C>G	ENST00000285379.5	+	3	504	c.274C>G	c.(274-276)Cag>Gag	p.Q92E		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	92			Q -> P (in OPTB3; in Czechoslovakia).		one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CAGATTGATTCAGTTTCACTT	0.338000													14	50					0	0	0.004007	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886052	88886052	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:88886052G>T	ENST00000319675.3	-	1	244	c.148C>A	c.(148-150)Cgt>Agt	p.R50S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	50										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGCTTACACGCAGCTCGCGA	0.502000													27	71					3.28513e-13	8.34883e-13	0.003954	1	0
OR5A1	219982	broad.mit.edu	37	11	59211053	59211053	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr11:59211053A>G	ENST00000302030.2	+	1	437	c.412A>G	c.(412-414)Atc>Gtc	p.I138V		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTACCCCACTATCATGACCCA	0.542000													35	292					0	0	0.002836	0	0
KCTD8	386617	broad.mit.edu	37	4	44177041	44177041	+	Silent	SNP	T	T	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:44177041T>A	ENST00000360029.3	-	2	1471	c.1188A>T	c.(1186-1188)gcA>gcT	p.A396A		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	396						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATTGTACAGGTGCTTTTTTAG	0.493000										HNSCC(17;0.042)			41	216					0	0	0.005524	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22472949	22472949	+	RNA	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr15:22472949C>A	ENST00000557788.2	-	0	321																											GCCCTGTCCGCGGCGGTCACA	0.602000													28	385					7.01153e-11	1.72691e-10	0.001271	1	0
DPYSL4	10570	broad.mit.edu	37	10	134014379	134014379	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:134014379C>T	ENST00000338492.4	+	10	1166	c.1002C>T	c.(1000-1002)tgC>tgT	p.C334C	DPYSL4_ENST00000368629.1_Silent_p.C234C|DPYSL4_ENST00000368627.1_Silent_p.C234C	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	334					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCGCCCACTGCACCTTCACCA	0.647000													6	15					0	0	0.001984	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596681	58596681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:58596681G>A	ENST00000240727.6	-	7	1303	c.904C>T	c.(904-906)Cct>Tct	p.P302S	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.P358S|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.P302S|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.P166S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	302					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCAGCTCAGGCAGCACCCCC	0.741000													8	10					0	0	0.004482	0	0
SMG8	55181	broad.mit.edu	37	17	57288460	57288460	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:57288460A>T	ENST00000543872.2	+	2	1312	c.1048A>T	c.(1048-1050)Atg>Ttg	p.M350L	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.M350L|SMG8_ENST00000578922.1_Missense_Mutation_p.M350L|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	350					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CCCAGTAGGTATGTTGCTGGA	0.522000													19	48					0	0	0.000958	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853842	51853842	+	Silent	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:51853842G>T	ENST00000453097.2	+	8	1180	c.963G>T	c.(961-963)ctG>ctT	p.L321L	SLC4A8_ENST00000535225.2_Silent_p.L268L|SLC4A8_ENST00000514353.3_Silent_p.L268L|SLC4A8_ENST00000394856.1_Silent_p.L268L|SLC4A8_ENST00000358657.3_Silent_p.L348L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	321					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTGTGAGGCTGTCTCCAGCTG	0.438000													36	179					6.03168e-27	1.65975e-26	0.004878	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47503647	47503647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:47503647G>A	ENST00000404338.3	+	6	4202	c.4202G>A	c.(4201-4203)tGg>tAg	p.W1401*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1401	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										ATCTGCTTCTGGCCCACCTTG	0.542000													36	241					0	0	0.001706	0	0
FAM135B	51059	broad.mit.edu	37	8	139160820	139160820	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:139160820C>T	ENST00000395297.1	-	14	3561	c.3391G>A	c.(3391-3393)Gag>Aag	p.E1131K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1131								p.E1131K(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTTCTTCCTCTTCCTCTGGT	0.373000										HNSCC(54;0.14)			5	23					0	0	0.001984	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643791	121643791	+	Splice_Site	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:121643791G>T	ENST00000489711.1	+	13	1423		c.e13-1		SLC15A2_ENST00000295605.2_Splice_Site	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2						protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGGTGTTACAGGTTCTAAATC	0.393000													30	171					7.01153e-11	1.72691e-10	0.001271	1	0
ZNF141	7700	broad.mit.edu	37	4	367208	367208	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:367208A>G	ENST00000240499.7	+	4	1131	c.982A>G	c.(982-984)Aaa>Gaa	p.K328E	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	328					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AACCCTTACTAAACATAAGAG	0.378000													29	65					0	0	0.001512	0	0
LRP1	4035	broad.mit.edu	37	12	57532268	57532268	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:57532268T>C	ENST00000243077.3	+	2	560	c.94T>C	c.(94-96)Ttt>Ctt	p.F32L	LRP1_ENST00000554174.1_Missense_Mutation_p.F32L|LRP1_ENST00000338962.4_Missense_Mutation_p.F32L|LRP1_ENST00000553277.1_Missense_Mutation_p.F32L	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	32	LDL-receptor class A 1.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCCAAGCAGTTTGCCTGCAG	0.527000													28	126					0	0	0.002096	0	0
SCEL	8796	broad.mit.edu	37	13	78183252	78183252	+	Splice_Site	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr13:78183252G>T	ENST00000535157.1	+	19	1321	c.1151_splice	c.e19+1	p.G384_splice	SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000349847.3_Splice_Site_p.G426_splice|SCEL_ENST00000377246.3_Splice_Site_p.G406_splice	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	426	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AGTACTGAAGGGTAAGATTTA	0.313000													10	17					1.58986e-06	3.68811e-06	0.000673	1	0
OTOF	9381	broad.mit.edu	37	2	26682979	26682979	+	Silent	SNP	A	A	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:26682979A>G	ENST00000272371.2	-	46	6034	c.5908T>C	c.(5908-5910)Ttg>Ctg	p.L1970L	OTOF_ENST00000403946.3_Intron|OTOF_ENST00000402415.3_Silent_p.L1280L|OTOF_ENST00000338581.6_Silent_p.L1203L|OTOF_ENST00000339598.3_Intron	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1970	Poly-Leu.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGCAGCAACAGTTTGAGG	0.607000													4	12					0	0	0.000248	0	0
PCLO	27445	broad.mit.edu	37	7	82584801	82584801	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:82584801G>A	ENST00000423517.2	-	5	5805	c.5468C>T	c.(5467-5469)cCa>cTa	p.P1823L	PCLO_ENST00000333891.8_Missense_Mutation_p.P1823L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1754					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTGTCTTTGGCCTTTCCCT	0.423000													43	149					0	0	0.003610	0	0
OR5H2	79310	broad.mit.edu	37	3	98001793	98001793	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:98001793G>T	ENST00000355273.2	+	1	62	c.62G>T	c.(61-63)gGa>gTa	p.G21V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G21E(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTTCTCACAGGACTTACATAT	0.413000													40	172					9.39024e-22	2.54878e-21	0.002222	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													5	161					0	0	0.000602	0	0
BEX5	340542	broad.mit.edu	37	X	101408934	101408934	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:101408934C>T	ENST00000543160.1	-	3	605	c.304G>A	c.(304-306)Gat>Aat	p.D102N	BEX5_ENST00000333643.3_Missense_Mutation_p.D102N	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	102						cytoplasm				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TCATGATGATCATGGTGAGGA	0.418000													36	25					0	0	0.001951	0	0
ZNF786	136051	broad.mit.edu	37	7	148767797	148767797	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:148767797C>A	ENST00000316286.9	-	3	2081	c.1809G>T	c.(1807-1809)gcG>gcT	p.A603A	ZNF786_ENST00000491431.1_Silent_p.A689A|ZNF786_ENST00000451334.3_Silent_p.A652A			Q8N393	ZN786_HUMAN	zinc finger protein 786	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGAGCAGCTGCGCCTTCAGGC	0.557000													53	141					1.39843e-22	3.82173e-22	0.003610	1	0
OR2M3	127062	broad.mit.edu	37	1	248366497	248366497	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:248366497C>G	ENST00000456743.1	+	1	166	c.128C>G	c.(127-129)tCt>tGt	p.S43C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGGAAACTCTGTCATGGTT	0.547000													80	210					0	0	0.003610	0	0
RECQL4	9401	broad.mit.edu	37	8	145738093	145738093	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:145738093C>T	ENST00000428558.2	-	17	2858	c.2817G>A	c.(2815-2817)gcG>gcA	p.A939A	RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	939					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TATAGGTGGTCGCCAGCAGCT	0.672000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				5	35					0	0	0.000602	0	0
LILRB1	10859	broad.mit.edu	37	19	55143396	55143396	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:55143396C>G	ENST00000396331.1	+	6	726	c.369C>G	c.(367-369)atC>atG	p.I123M	LILRB1_ENST00000396317.1_Missense_Mutation_p.I123M|LILRB1_ENST00000448689.1_Missense_Mutation_p.I123M|LILRB1_ENST00000427581.2_Missense_Mutation_p.I159M|LILRB1_ENST00000396327.3_Missense_Mutation_p.I123M|LILRB1_ENST00000434867.2_Missense_Mutation_p.I123M|LILRB1_ENST00000396332.4_Missense_Mutation_p.I123M|LILRB1_ENST00000324602.7_Missense_Mutation_p.I123M|LILRB1_ENST00000396321.2_Missense_Mutation_p.I123M|LILRB1_ENST00000418536.2_Missense_Mutation_p.I123M|LILRB1_ENST00000396315.1_Missense_Mutation_p.I123M	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	123	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GAGCCTACATCAAACCCACCC	0.582000										HNSCC(37;0.09)			18	101					0	0	0.000958	0	0
ARGFX	503582	broad.mit.edu	37	3	121304883	121304883	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:121304883C>A	ENST00000334384.3	+	4	394	c.384C>A	c.(382-384)aaC>aaA	p.N128K		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	128						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GGTTCAGGAACCGGCGATTCA	0.502000													8	57					0.000274275	0.000618281	0.004482	1	0
CCDC40	55036	broad.mit.edu	37	17	78059875	78059875	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:78059875C>A	ENST00000397545.4	+	14	2336	c.2309C>A	c.(2308-2310)gCg>gAg	p.A770E	CCDC40_ENST00000374877.3_Missense_Mutation_p.A770E	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	770					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GATGGCAAGGCGGTCCAGGCC	0.587000													6	55					3.59834e-05	8.20421e-05	0.001168	1	0
ATN1	1822	broad.mit.edu	37	12	7046365	7046365	+	Silent	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:7046365C>G	ENST00000356654.4	+	5	2172	c.1935C>G	c.(1933-1935)tcC>tcG	p.S645S	ATN1_ENST00000396684.2_Silent_p.S645S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	645					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GAGCCCCGTCCCCGGGGGCCT	0.672000													12	47					0	0	0.000978	0	0
FBXO18	84893	broad.mit.edu	37	10	5948284	5948284	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:5948284C>T	ENST00000379999.5	+	4	699	c.595C>T	c.(595-597)Cca>Tca	p.P199S	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.P148S	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	148					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TAAGAAAGCTCCACGGCACCA	0.597000													5	35					0	0	0.000602	0	0
ADRA2C	152	broad.mit.edu	37	4	3768967	3768967	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:3768967C>T	ENST00000330055.5	+	1	843	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	ADRA2C_ENST00000509482.1_Silent_p.L212L	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	212					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CTGGTACATCCTGTCCTCCTG	0.682000													7	18					0	0	0.004482	0	0
CCDC132	55610	broad.mit.edu	37	7	92905483	92905483	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:92905483A>G	ENST00000544910.1	+	13	938	c.718A>G	c.(718-720)Atg>Gtg	p.M240V	CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000305866.5_Missense_Mutation_p.M270V|CCDC132_ENST00000317751.6_Start_Codon_SNP_p.M1V|CCDC132_ENST00000541136.1_Missense_Mutation_p.M81V|CCDC132_ENST00000251739.5_Missense_Mutation_p.M270V	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	270										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAGACAGCAATGGATCAACT	0.343000													26	55					0	0	0.001271	0	0
GJA8	2703	broad.mit.edu	37	1	147381094	147381094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:147381094G>A	ENST00000240986.4	+	2	1065	c.1012G>A	c.(1012-1014)Gca>Aca	p.A338T	GJA8_ENST00000369235.1_Missense_Mutation_p.A338T	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	338					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGGCCGCCTGCAGAGGAGGG	0.657000													4	5					0	0	0.000248	0	0
CATSPER2	117155	broad.mit.edu	37	15	43927557	43927557	+	Splice_Site	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr15:43927557C>G	ENST00000396879.1	-	11	1291		c.e11+1		CATSPER2_ENST00000354127.4_Splice_Site|CATSPER2_ENST00000355438.2_Splice_Site|CATSPER2_ENST00000381761.1_Splice_Site|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000321596.5_Splice_Site			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2						cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ATACTCCTAACCTGTCCTCTA	0.368000											OREG0003957	type=REGULATORY REGION|Gene=AK093318|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	23	298					0	0	0.002780	0	0
KCNH5	27133	broad.mit.edu	37	14	63246619	63246619	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:63246619T>A	ENST00000322893.7	-	10	2114	c.1846A>T	c.(1846-1848)Atc>Ttc	p.I616F	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.I558F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	616					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCCAGAAGATGTCTCCAAAT	0.423000													14	31					0	0	0.001855	0	0
C19orf12	83636	broad.mit.edu	37	19	30193700	30193700	+	Splice_Site	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:30193700C>T	ENST00000592153.1	-	4	400		c.e4-1		C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000323670.9_Silent_p.E115E|C19orf12_ENST00000392276.1_Silent_p.E51E|C19orf12_ENST00000392278.2_Silent_p.E126E	NM_001256046.1	NP_001242975.1	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12							integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GCTGCAGGGCCTCGCTGCCCA	0.642000													10	22					0	0	0.000978	0	0
CREBRF	153222	broad.mit.edu	37	5	172517447	172517447	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:172517447G>A	ENST00000540014.1	+	4	584	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	CREBRF_ENST00000296953.2_Missense_Mutation_p.E89K|CREBRF_ENST00000520420.1_Missense_Mutation_p.E89K|CREBRF_ENST00000522692.1_Missense_Mutation_p.E89K			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	89							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										CTCAAACTGGGAACAGTGGGA	0.413000													29	34					0	0	0.001061	0	0
SHANK3	85358	broad.mit.edu	37	22	51137137	51137137	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr22:51137137C>T	ENST00000414786.2	+	12	1703	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	SHANK3_ENST00000262795.3_Silent_p.G522G|SHANK3_ENST00000445220.2_Silent_p.G507G			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	522										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TTGGGGAGGGCGGTTTCTGGG	0.652000													8	25					0	0	0.004482	0	0
MMP24	10893	broad.mit.edu	37	20	33855127	33855127	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr20:33855127G>A	ENST00000246186.6	+	6	1184	c.1099G>A	c.(1099-1101)Ggg>Agg	p.G367R	MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	367					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCGCCCCTCGGGGACCGGCC	0.637000													4	12					0	0	0.001984	0	0
CMTR2	55783	broad.mit.edu	37	16	71319208	71319208	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:71319208T>A	ENST00000338099.5	-	3	952	c.616A>T	c.(616-618)Aac>Tac	p.N206Y	FTSJD1_ENST00000434935.2_Missense_Mutation_p.N206Y			Q8IYT2	FTSJ1_HUMAN		206						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCACCAGTGTTATCTGGACCA	0.428000													20	60					0	0	0.001882	0	0
DUSP21	63904	broad.mit.edu	37	X	44703891	44703891	+	Silent	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:44703891G>C	ENST00000339042.4	+	1	643	c.513G>C	c.(511-513)tcG>tcC	p.S171S		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	171						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TGATCAACTCGCCGGTAGGTA	0.512000													13	35					0	0	0.002450	0	0
USP5	8078	broad.mit.edu	37	12	6970679	6970679	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:6970679G>A	ENST00000229268.8	+	13	1623	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q	USP5_ENST00000389231.5_Missense_Mutation_p.R524Q|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	524					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GAACTGGTTCGGGCCCAGGTG	0.607000													51	67					0	0	0.003610	0	0
PHOX2B	8929	broad.mit.edu	37	4	41747863	41747863	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:41747863G>C	ENST00000226382.2	-	3	1265	c.906C>G	c.(904-906)aaC>aaG	p.N302K		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	302					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTTTGGCACCGTTGGGTCTTT	0.687000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				27	65					0	0	0.001271	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90109045	90109045	+	RNA	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:90109045G>C	ENST00000390271.2	+	0	336																											TGAAGATGCTGCAACATATTA	0.493000													9	65					0	0	0.000443	0	0
MZF1	7593	broad.mit.edu	37	19	59073763	59073763	+	Silent	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:59073763G>A	ENST00000215057.2	-	6	2441	c.1881C>T	c.(1879-1881)tgC>tgT	p.C627C	AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Silent_p.C627C	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	627					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CGCACTCACCGCAGTGGTAGG	0.672000													8	14					0	0	0.003080	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:7578271T>A	ENST00000420246.2	-	6	710	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193L|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			29	19					0	0	0.001271	0	0
LMO7	4008	broad.mit.edu	37	13	76393647	76393647	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr13:76393647C>T	ENST00000357063.3	+	14	3599	c.2339C>T	c.(2338-2340)aCg>aTg	p.T780M	LMO7_ENST00000321797.8_Missense_Mutation_p.T495M|LMO7_ENST00000465261.2_Missense_Mutation_p.T495M|LMO7_ENST00000377534.3_Missense_Mutation_p.T780M|LMO7_ENST00000341547.4_Missense_Mutation_p.T446M|LMO7_ENST00000526202.1_Missense_Mutation_p.T345M			Q8WWI1	LMO7_HUMAN	LIM domain 7	780						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGCTCTAAGACGTTTAAGGAA	0.388000													16	38					0	0	0.004990	0	0
MIR520A	574467	broad.mit.edu	37	19	54194151	54194151	+	RNA	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:54194151C>A	ENST00000384862.1	+	0	17					NR_030189.1																						CTGTGACCCTCCAGAGGGAAG	0.423000													32	153					2.47316e-13	6.35716e-13	0.003271	1	0
MPRIP	23164	broad.mit.edu	37	17	17078662	17078662	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:17078662G>A	ENST00000395811.5	+	19	2734	c.2645G>A	c.(2644-2646)gGg>gAg	p.G882E	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.G844E|MPRIP_ENST00000395804.3_Missense_Mutation_p.G882E|MPRIP_ENST00000341712.4_Missense_Mutation_p.G882E	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	882						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGCTGACTGGGGACGGCGGT	0.632000													10	32					0	0	0.000443	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602037	13602037	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:13602037T>G	ENST00000040738.5	-	10	6622	c.6487A>C	c.(6487-6489)Aag>Cag	p.K2163Q		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2163							DNA binding										TCAGCACACTTGATGGTTGTT	0.507000													22	59					0	0	0.001882	0	0
CTNNA2	1496	broad.mit.edu	37	2	80835424	80835424	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:80835424G>T	ENST00000466387.1	+	21	3135	c.2411G>T	c.(2410-2412)gGa>gTa	p.G804V	CTNNA2_ENST00000496558.1_Missense_Mutation_p.G804V|CTNNA2_ENST00000343114.3_Missense_Mutation_p.G483V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.G838V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.G804V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.G804V|CTNNA2_ENST00000540488.1_Intron|AC008067.2_ENST00000430876.1_RNA			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	804					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AATCTGGGAGGAGAGCTCATT	0.463000													15	30					2.48551e-13	6.35716e-13	0.004990	1	0
RP11-156P1.3	0	broad.mit.edu	37	17	45131451	45131451	+	RNA	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:45131451G>T	ENST00000575173.1	-	0	418																											GAAGTACATTGTGAGATACGT	0.468000													8	28					5.18039e-06	1.18792e-05	0.003080	1	0
NPAS4	266743	broad.mit.edu	37	11	66192686	66192686	+	Silent	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr11:66192686G>A	ENST00000311034.2	+	7	2501	c.2325G>A	c.(2323-2325)ggG>ggA	p.G775G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	775					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTATGATGGGTTTACTGATG	0.512000													18	42					0	0	0.006122	0	0
SDSL	113675	broad.mit.edu	37	12	113872019	113872019	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:113872019C>A	ENST00000403593.4	+	5	697	c.435C>A	c.(433-435)ccC>ccA	p.P145P	SDSL_ENST00000345635.4_Silent_p.P145P			Q96GA7	SDSL_HUMAN	serine dehydratase-like	145					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	TTGACCACCCCCTAATATGGT	0.602000													26	115					2.48779e-11	6.20394e-11	0.005443	1	0
IQGAP3	128239	broad.mit.edu	37	1	156518471	156518471	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:156518471A>T	ENST00000361170.2	-	17	1905	c.1895T>A	c.(1894-1896)tTg>tAg	p.L632*		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	632					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)					GGGGTTCCTCAACACCCGCTC	0.597000													11	48					0	0	0.000673	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162460	96162460	+	Silent	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:96162460G>A	ENST00000225235.4	+	1	200	c.90G>A	c.(88-90)agG>agA	p.R30R		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	30						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GCCAGGACAGGAAGGTAATCC	0.706000													3	5					0	0	0.004672	0	0
MYH15	22989	broad.mit.edu	37	3	108211974	108211974	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:108211974C>A	ENST00000273353.3	-	9	878	c.822G>T	c.(820-822)gtG>gtT	p.V274V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	274	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TATCAATGTCCACAGATGACA	0.433000													8	49					5.18039e-06	1.18792e-05	0.003080	1	0
PXMP2	5827	broad.mit.edu	37	12	133266864	133266864	+	Silent	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:133266864A>T	ENST00000317479.3	+	2	203	c.138A>T	c.(136-138)gcA>gcT	p.A46A	PXMP2_ENST00000543589.1_Silent_p.A46A|PXMP2_ENST00000539093.1_5'UTR|RP13-672B3.2_ENST00000537262.1_5'UTR|PXMP2_ENST00000545677.1_5'UTR	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	46						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		TTTTGTCAGCACTTGGGAACT	0.512000													17	72					0	0	0.000958	0	0
ECM2	1842	broad.mit.edu	37	9	95277012	95277012	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr9:95277012C>T	ENST00000344604.5	-	4	1104	c.955G>A	c.(955-957)Ggg>Agg	p.G319R	ECM2_ENST00000444490.2_Missense_Mutation_p.G297R|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	319	LRRNT.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AGAGAGCACCCGCTTGGCAGG	0.587000													22	36					0	0	0.001523	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21940122	21940122	+	Splice_Site	SNP	T	T	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:21940122T>A	ENST00000542643.2	-	10	775	c.474_splice	c.e10+1	p.K158_splice	RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374763.2_Splice_Site_p.K158_splice|RAP1GAP_ENST00000374761.2_Splice_Site_p.K189_splice|RAP1GAP_ENST00000374765.4_Splice_Site_p.K158_splice|RAP1GAP_ENST00000290101.4_Splice_Site_p.K222_splice	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	158					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGACCTCACCTTTGCCATCTG	0.597000													27	102					0	0	0.001061	0	0
ZXDA	7789	broad.mit.edu	37	X	57935809	57935809	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:57935809G>A	ENST00000358697.4	-	1	1258	c.1046C>T	c.(1045-1047)gCg>gTg	p.A349V		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	349	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CTTCATGTGCGCCTTGAGGTT	0.617000													16	23					0	0	0.003163	0	0
SLC2A14	144195	broad.mit.edu	37	12	7973851	7973851	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:7973851G>A	ENST00000543909.1	-	13	1763	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	SLC2A14_ENST00000396589.2_Missense_Mutation_p.A335V|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A226V|SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A350V|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A312V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A226V|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A312V			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	335					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.A335V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AACCACACCCGCGCTGATGGT	0.413000													43	122					0	0	0.003610	0	0
RABIF	5877	broad.mit.edu	37	1	202850116	202850116	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:202850116G>A	ENST00000367262.3	-	2	398	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_002871.4	NP_002862.2	P47224	MSS4_HUMAN	RAB interacting factor	121					cellular membrane fusion|protein transport|small GTPase mediated signal transduction		guanyl-nucleotide exchange factor activity|zinc ion binding			large_intestine(1)|lung(2)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTACTCATGGGAAACTCGTTC	0.478000													18	81					0	0	0.006122	0	0
RBM11	54033	broad.mit.edu	37	21	15599599	15599599	+	Silent	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:15599599G>A	ENST00000400577.3	+	5	840	c.831G>A	c.(829-831)aaG>aaA	p.K277K	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	277							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AGTCTAAGAAGAAGAAAAGAT	0.328000													12	62					0	0	0.001368	0	0
OR5A2	219981	broad.mit.edu	37	11	59190241	59190241	+	Silent	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr11:59190241G>A	ENST00000302040.4	-	1	208	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TACTGAGGAAGAAGTACATGG	0.493000													21	70					0	0	0.001882	0	0
RBM11	54033	broad.mit.edu	37	21	15599567	15599567	+	Nonsense_Mutation	SNP	G	G	T	rs61733445		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:15599567G>T	ENST00000400577.3	+	5	808	c.799G>T	c.(799-801)Gaa>Taa	p.E267*	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	267							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CAGAGGCAACGAATGTAGCCA	0.358000													15	86					2.98522e-18	7.94068e-18	0.003163	1	0
FRAS1	80144	broad.mit.edu	37	4	79284715	79284715	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:79284715G>T	ENST00000264895.6	+	21	2911	c.2471G>T	c.(2470-2472)gGg>gTg	p.G824V	FRAS1_ENST00000325942.6_Missense_Mutation_p.G824V	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	824					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						CACAACACTGGGAGCATCTGC	0.582000													13	18					1.05317e-09	2.56229e-09	0.002450	1	0
PCDHA1	56147	broad.mit.edu	37	5	140166108	140166108	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:140166108A>T	ENST00000504120.2	+	1	233	c.233A>T	c.(232-234)aAt>aTt	p.N78I	PCDHA1_ENST00000378133.3_Missense_Mutation_p.N78I|PCDHA1_ENST00000394633.3_Missense_Mutation_p.N78I	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGGTAAATCTGCAGAAT	0.597000													37	127					0	0	0.004289	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53675283	53675283	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:53675283C>T	ENST00000262135.4	-	18	2881	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E930K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E930K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E930K	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	930					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CCTAAGTCTTCAGTTGTTATT	0.403000													19	47					0	0	0.001216	0	0
TTN	7273	broad.mit.edu	37	2	179612977	179612977	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:179612977G>A	ENST00000360870.5	-	46	14372	c.14150C>T	c.(14149-14151)aCt>aTt	p.T4717I	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	826	Ig-like 27.						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)			AGAAAGATCAGTTTTTAAAAT	0.328000													12	53					0	0	0.001368	0	0
RGS14	10636	broad.mit.edu	37	5	176794768	176794768	+	Silent	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:176794768G>T	ENST00000408923.3	+	7	869	c.681G>T	c.(679-681)ggG>ggT	p.G227G		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	227					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGTTGGGGCAGCTGCCAC	0.711000													14	49					1.67942e-08	4.0125e-08	0.006122	1	0
BRINP1	1620	broad.mit.edu	37	9	122011377	122011377	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr9:122011377C>T	ENST00000265922.3	-	3	731	c.270G>A	c.(268-270)ctG>ctA	p.L90L	DBC1_ENST00000373964.2_Silent_p.L90L	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		90	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GATGGCGGACCAGATCTCTCC	0.532000													16	26					0	0	0.004007	0	0
EIF3B	8662	broad.mit.edu	37	7	2409186	2409186	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:2409186C>A	ENST00000360876.4	+	10	1539	c.1483C>A	c.(1483-1485)Ctg>Atg	p.L495M	EIF3B_ENST00000397011.2_Missense_Mutation_p.L495M	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	495					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CAGGGTAACCCTGATGCAGCT	0.488000													6	198					0.00116845	0.00256159	0.001168	1	0
KIAA2022	340533	broad.mit.edu	37	X	73962796	73962796	+	Silent	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:73962796G>C	ENST00000373468.1	-	3	2247	c.1596C>G	c.(1594-1596)acC>acG	p.T532T	KIAA2022_ENST00000055682.5_Silent_p.T532T			Q5QGS0	K2022_HUMAN	KIAA2022	532					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCTCCTTACGGGTTACTTTTC	0.418000													17	9					0	0	0.004007	0	0
ASAP1	50807	broad.mit.edu	37	8	131127924	131127924	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:131127924T>C	ENST00000357668.1	-	22	2149	c.2122A>G	c.(2122-2124)Aat>Gat	p.N708D	ASAP1_ENST00000518721.1_Missense_Mutation_p.N708D			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	708					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGTCGAAGATTCCACTCATAT	0.413000													36	298					0	0	0.001287	0	0
TTN	7273	broad.mit.edu	37	2	179428334	179428334	+	Silent	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:179428334G>T	ENST00000589042.1	-	326	82749	c.82525C>A	c.(82525-82527)Cga>Aga	p.R27509R	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.R18636R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.R18444R|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.R25868R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.R18569R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.R24941R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25868	Fibronectin type-III 100.						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)			TCCTTATCTCGTTTTTCAAGA	0.463000													43	129					1.00001e-27	2.77085e-27	0.002222	1	0
ATP4A	495	broad.mit.edu	37	19	36046418	36046418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:36046418C>T	ENST00000262623.3	-	14	2109	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	694					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGGGTGGGTGCGCAGGGCCTC	0.652000													11	30					0	0	0.000673	0	0
PTPN13	5783	broad.mit.edu	37	4	87705662	87705662	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:87705662A>T	ENST00000436978.1	+	38	6564	c.6084A>T	c.(6082-6084)aaA>aaT	p.K2028N	PTPN13_ENST00000427191.2_Missense_Mutation_p.K2004N|PTPN13_ENST00000316707.6_Missense_Mutation_p.K1832N|PTPN13_ENST00000511467.1_Missense_Mutation_p.K2028N|PTPN13_ENST00000411767.2_Missense_Mutation_p.K2023N	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2023						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCAAAGGAAAATGTTCTACTT	0.353000													3	27					0	0	0.000602	0	0
NRD1	4898	broad.mit.edu	37	1	52305985	52305985	+	Silent	SNP	T	T	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:52305985T>C	ENST00000354831.7	-	2	732	c.543A>G	c.(541-543)gaA>gaG	p.E181E	NRD1_ENST00000539524.1_Silent_p.E49E|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.E181E|NRD1_ENST00000544028.1_Silent_p.E49E	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	178	Asp/Glu-rich (highly acidic).				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						catcatcatgttcatcatcaa	0.373000													6	15					0	0	0.001168	0	0
CCDC19	25790	broad.mit.edu	37	1	159842919	159842919	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:159842919C>T	ENST00000426543.2	-	11	1592	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Silent_p.E464E			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	464						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCTTTTTCTCCTCCTCCAGCC	0.587000													16	31					0	0	0.004990	0	0
ITGA8	8516	broad.mit.edu	37	10	15760779	15760779	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:15760779G>T	ENST00000378076.3	-	2	682	c.329C>A	c.(328-330)cCg>cAg	p.P110Q		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	110					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGTGTCAAACGGTATCTGCCT	0.597000													36	78					4.3181e-19	1.15632e-18	0.002836	1	0
SLC7A14	57709	broad.mit.edu	37	3	170219002	170219002	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:170219002C>G	ENST00000231706.4	-	3	752	c.437G>C	c.(436-438)gGc>gCc	p.G146A	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	146						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGCCGCAGTGCCAATCAGGTA	0.557000													8	36					0	0	0.003080	0	0
TOX4	9878	broad.mit.edu	37	14	21957421	21957421	+	Silent	SNP	T	T	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:21957421T>C	ENST00000405508.1	+	6	945	c.669T>C	c.(667-669)ccT>ccC	p.P223P	TOX4_ENST00000262709.3_Silent_p.P223P|TOX4_ENST00000448790.2_Silent_p.P200P			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	223						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CTAATGAACCTCAGAAACCAG	0.443000													58	72					0	0	0.003610	0	0
IQCE	23288	broad.mit.edu	37	7	2618149	2618149	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:2618149G>T	ENST00000402050.2	+	8	803	c.619G>T	c.(619-621)Gat>Tat	p.D207Y	IQCE_ENST00000325979.7_Missense_Mutation_p.D142Y|IQCE_ENST00000438376.2_Missense_Mutation_p.D191Y|IQCE_ENST00000404984.1_Missense_Mutation_p.D156Y	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	207										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GAAAAGGCCCGATGCCAGTTG	0.587000													28	77					1.42536e-11	3.57684e-11	0.004656	1	0
VPS39	23339	broad.mit.edu	37	15	42470746	42470746	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr15:42470746A>C	ENST00000318006.5	-	9	903	c.741T>G	c.(739-741)atT>atG	p.I247M	VPS39_ENST00000348544.4_Missense_Mutation_p.I258M	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	258	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GCAACACTGCAATGATGTAGG	0.478000													10	60					0	0	0.000443	0	0
TMEM106B	54664	broad.mit.edu	37	7	12263867	12263867	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:12263867G>A	ENST00000396667.2	+	5	619	c.297G>A	c.(295-297)atG>atA	p.M99I	TMEM106B_ENST00000396668.3_Missense_Mutation_p.M99I	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	99						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TGTATGTGATGGCTTCTGTGT	0.388000													50	169					0	0	0.003610	0	0
PLK1	5347	broad.mit.edu	37	16	23700835	23700835	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:23700835C>T	ENST00000300093.4	+	9	1557	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	482					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TTAAATATTTCCGCAATTACA	0.552000													34	66					0	0	0.004289	0	0
ZNF365	22891	broad.mit.edu	37	10	64159517	64159517	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:64159517A>G	ENST00000395254.3	+	5	1473	c.1193A>G	c.(1192-1194)aAa>aGa	p.K398R	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATGGCTAAAAAAAAGCCAACA	0.517000													9	35					0	0	0.004482	0	0
AKAP5	9495	broad.mit.edu	37	14	64936395	64936395	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:64936395G>C	ENST00000320636.5	+	1	2571	c.1283G>C	c.(1282-1284)tGa>tCa	p.*428S	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000394718.3_Nonstop_Mutation_p.*428S			P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	0					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CTTCTACAGTGACTTACTCTC	0.343000													11	65					0	0	0.000978	0	0
ZBED4	9889	broad.mit.edu	37	22	50279257	50279257	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr22:50279257C>T	ENST00000216268.4	+	2	2424	c.1947C>T	c.(1945-1947)taC>taT	p.Y649Y		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	649						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGAAGTTTTACGATTCTCACC	0.493000													16	48					0	0	0.004007	0	0
LAMB4	22798	broad.mit.edu	37	7	107674717	107674717	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:107674717C>G	ENST00000388781.3	-	31	4837	c.4754G>C	c.(4753-4755)cGg>cCg	p.R1585P	LAMB4_ENST00000388780.3_Missense_Mutation_p.R1585P|LAMB4_ENST00000205386.4_Missense_Mutation_p.R1585P|LAMB4_ENST00000483484.1_5'UTR	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1585	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGAGTTTGCCCGTCCTTGAGT	0.338000													30	89					0	0	0.001786	0	0
HTT	3064	broad.mit.edu	37	4	3134446	3134446	+	Splice_Site	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:3134446A>T	ENST00000355072.5	+	17	2539	c.2395_splice	c.e17+1	p.T798_splice		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	798					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAACCCTCACAGGTAACGGCC	0.468000													44	106					0	0	0.003214	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16051962	16051962	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:16051962T>C	ENST00000375799.3	+	8	1090	c.863T>C	c.(862-864)gTg>gCg	p.V288A	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.V268A|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	288	Interaction with KIF5B.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACCACCCCCGTGCACACCACC	0.672000													2	5					0	0	0.004672	0	0
ADAM22	53616	broad.mit.edu	37	7	87785302	87785302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:87785302G>T	ENST00000398204.4	+	22	2211	c.1888G>T	c.(1888-1890)Gga>Tga	p.G630*	ADAM22_ENST00000398209.3_Nonsense_Mutation_p.G630*|ADAM22_ENST00000265727.7_Nonsense_Mutation_p.G630*|ADAM22_ENST00000315984.7_Nonsense_Mutation_p.G630*|ADAM22_ENST00000398201.4_Nonsense_Mutation_p.G630*	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	630	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGCAGCAAGGAAGAACATT	0.383000													19	56					5.35267e-07	1.24896e-06	0.000958	1	0
OSR1	130497	broad.mit.edu	37	2	19553023	19553023	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:19553023G>A	ENST00000536433.1	-	1	3654	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	OSR1_ENST00000272223.2_Missense_Mutation_p.R182C			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	182					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GTGAAGTGGCGGCCACAGAAC	0.567000													40	66					0	0	0.001287	0	0
FAM47C	442444	broad.mit.edu	37	X	37027194	37027194	+	Silent	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:37027194G>A	ENST00000358047.3	+	1	763	c.711G>A	c.(709-711)gaG>gaA	p.E237E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	237										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCACCTGGAGCCTCCAGAGA	0.632000													37	15					0	0	0.004878	0	0
BARHL2	343472	broad.mit.edu	37	1	91182551	91182551	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:91182551C>A	ENST00000370445.4	-	1	243	c.202G>T	c.(202-204)Gtc>Ttc	p.V68F		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	68						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TCCATGGTGACTGAGATAGGA	0.662000													5	52					0.000602214	0.00133491	0.000602	1	0
APPL2	55198	broad.mit.edu	37	12	105600878	105600878	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:105600878C>T	ENST00000258530.3	-	8	807	c.582G>A	c.(580-582)atG>atA	p.M194I	APPL2_ENST00000551662.1_Missense_Mutation_p.M200I|APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.M151I	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	194	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCATCATGGCCATTTGCTTTC	0.597000													13	68					0	0	0.001855	0	0
ARPP21	10777	broad.mit.edu	37	3	35732493	35732493	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:35732493A>T	ENST00000187397.4	+	9	1138	c.682A>T	c.(682-684)Aga>Tga	p.R228*	ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R228*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R228*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R228*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R228*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	228						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCAGCACCAGAATGTAAGC	0.368000													9	68					0	0	0.000443	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543010	133543010	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:133543010C>A	ENST00000409261.1	-	14	1747	c.1374G>T	c.(1372-1374)ggG>ggT	p.G458G	NCKAP5_ENST00000317721.6_Silent_p.G458G|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	458							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCAGGGGCTCCCCAGGTCAG	0.468000													8	44					1.26484e-09	3.05862e-09	0.003080	1	0
CELSR1	9620	broad.mit.edu	37	22	46860111	46860111	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr22:46860111G>A	ENST00000262738.3	-	2	3675	c.3676C>T	c.(3676-3678)Ctc>Ttc	p.L1226F	CELSR1_ENST00000395964.1_Missense_Mutation_p.L1226F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1226					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCACGAAGAGGGCCAGCAGC	0.602000													12	39					0	0	0.000978	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744880	70744880	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:70744880C>A	ENST00000260126.3	-	2	735	c.29G>T	c.(28-30)gGg>gTg	p.G10V	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G10V|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G10V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	10						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CTCTCCCGCCCCGGGCTGCAG	0.617000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	71					7.38237e-10	1.80709e-09	0.001061	1	0
AR	367	broad.mit.edu	37	X	66765158	66765158	+	Missense_Mutation	SNP	T	T	A	rs72181988		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:66765158T>A	ENST00000374690.3	+	1	694	c.170T>A	c.(169-171)cTg>cAg	p.L57Q	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.L57Q|AR_ENST00000504326.1_Missense_Mutation_p.L57Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	57	Modulating.|Poly-Leu.		L -> Q (in prostate cancer).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.L57Q(3)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TTGCTGCTGCTgcagcagcag	0.667000									Androgen Insensitivity Syndrome				5	19					0	0	0.001168	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744390	31744390	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:31744390G>T	ENST00000399889.2	-	1	167	c.142C>A	c.(142-144)Ctg>Atg	p.L48M		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	48	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GAGGAACCCAGCTGGCAGGTG	0.602000													25	72					1.64293e-13	4.25669e-13	0.003330	1	0
C17orf66	256957	broad.mit.edu	37	17	34192401	34192401	+	Splice_Site	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:34192401C>A	ENST00000311880.2	-	3	287		c.e3-1		C17orf66_ENST00000587585.1_Splice_Site|C17orf66_ENST00000592980.1_Splice_Site	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66								binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCTTTGGCATCTGGGGGTTGC	0.562000													13	19					0.00136819	0.00298311	0.001368	1	0
UBAP1	51271	broad.mit.edu	37	9	34249862	34249862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr9:34249862C>T	ENST00000536252.1	+	6	1567	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	UBAP1_ENST00000359544.2_Missense_Mutation_p.P390L|UBAP1_ENST00000540348.1_Missense_Mutation_p.P390L|UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000545103.1_Missense_Mutation_p.P454L|UBAP1_ENST00000297661.4_Missense_Mutation_p.P390L|UBAP1_ENST00000543944.1_Missense_Mutation_p.P426L	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	390	UBA 1.					cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			ATGCTGTCCCCCAGCGAGCGG	0.532000													39	57					0	0	0.004878	0	0
KIAA0947	23379	broad.mit.edu	37	5	5486871	5486871	+	Silent	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:5486871A>T	ENST00000296564.7	+	18	6780	c.6558A>T	c.(6556-6558)ccA>ccT	p.P2186P		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2186										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAGGATTTCCATCTGCTGTGA	0.323000													3	8					0	0	0.000248	0	0
TANK	10010	broad.mit.edu	37	2	162087916	162087916	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:162087916A>G	ENST00000392749.2	+	7	1194	c.955A>G	c.(955-957)Atc>Gtc	p.I319V	TANK_ENST00000259075.2_Missense_Mutation_p.I319V|TANK_ENST00000405852.1_Missense_Mutation_p.I319V|AC009299.2_ENST00000421122.2_RNA|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000402568.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	319						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AAACACTTGTATCAGGACAAC	0.403000													19	57					0	0	0.000958	0	0
ASNS	440	broad.mit.edu	37	7	97482391	97482391	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:97482391T>A	ENST00000175506.4	-	13	1985	c.1457A>T	c.(1456-1458)cAg>cTg	p.Q486L	ASNS_ENST00000394308.3_Missense_Mutation_p.Q486L|ASNS_ENST00000437628.1_Missense_Mutation_p.Q403L|ASNS_ENST00000422745.1_Missense_Mutation_p.Q465L|ASNS_ENST00000394309.3_Missense_Mutation_p.Q486L|ASNS_ENST00000455086.1_Missense_Mutation_p.Q403L|ASNS_ENST00000444334.1_Missense_Mutation_p.Q465L	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	486	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AACGTATTCCTGTAAAATCTT	0.358000													7	29					0	0	0.004482	0	0
GLRX3	10539	broad.mit.edu	37	10	131973264	131973264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:131973264C>T	ENST00000368644.1	+	10	890	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	GLRX3_ENST00000331244.5_Missense_Mutation_p.R290W	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	290	Glutaredoxin 2.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		TCTTTAGGTTCGGCAAGGATT	0.428000													10	53					0	0	0.000443	0	0
DNAH5	1767	broad.mit.edu	37	5	13708445	13708445	+	Splice_Site	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:13708445C>T	ENST00000265104.4	-	76	13230		c.e76-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTCTTTTACCTGCCATGGAG	0.463000									Kartagener syndrome				31	62					0	0	0.002445	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97939786	97939786	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:97939786G>A	ENST00000005260.8	-	9	1141	c.926C>T	c.(925-927)cCg>cTg	p.P309L	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	309					filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTGAATTCGGGGCAGCCGT	0.398000													11	40					0	0	0.001855	0	0
PDPR	55066	broad.mit.edu	37	16	70164400	70164400	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:70164400G>T	ENST00000288050.4	+	7	1639	c.682G>T	c.(682-684)Gat>Tat	p.D228Y	PDPR_ENST00000568530.1_Missense_Mutation_p.D228Y|PDPR_ENST00000398122.3_Missense_Mutation_p.D128Y	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	228					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AGTGGAGACCGATAAAGGACA	0.423000													7	111					0.000274275	0.000618281	0.004482	1	0
CHRAC1	54108	broad.mit.edu	37	8	141521631	141521631	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:141521631C>A	ENST00000220913.5	+	1	235	c.33C>A	c.(31-33)ggC>ggA	p.G11G	CHRAC1_ENST00000519533.1_Silent_p.G11G	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	11					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			AAGACAAGGGCGGGGAGCAGC	0.697000													6	7					0.00116845	0.00256159	0.001168	1	0
PCDHB2	56133	broad.mit.edu	37	5	140475707	140475707	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:140475707G>C	ENST00000194155.4	+	1	1481	c.1333G>C	c.(1333-1335)Gac>Cac	p.D445H		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		445	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTCTCCGACGTCAATGA	0.607000													55	136					0	0	0.003610	0	0
PIK3CA	5290	broad.mit.edu	37	3	178948136	178948136	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:178948136G>A	ENST00000263967.3	+	20	3065	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	970	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E970K(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGAGCCCAAGAATGCACAAA	0.338000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			32	55					0	0	0.004289	0	0
ACY1	95	broad.mit.edu	37	3	52012073	52012073	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:52012073G>T	ENST00000458031.2	+	2	342	c.111G>T	c.(109-111)agG>agT	p.R37S	ABHD14A_ENST00000273596.3_Missense_Mutation_p.V86L|ABHD14A_ENST00000491470.1_Missense_Mutation_p.V86L|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.V86L|ABHD14B_ENST00000483233.1_Intron			Q03154	ACY1_HUMAN	aminoacylase 1	0					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	TTACCGCGAGGTGCTCCCACT	0.617000													6	13					0.00198382	0.00430187	0.001984	1	0
FLII	2314	broad.mit.edu	37	17	18155350	18155350	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:18155350C>A	ENST00000327031.4	-	11	1434	c.1209G>T	c.(1207-1209)gcG>gcT	p.A403A	FLII_ENST00000379450.4_Silent_p.A318A|FLII_ENST00000579294.1_Silent_p.A392A|FLII_ENST00000578558.1_Silent_p.A403A|FLII_ENST00000545457.2_Silent_p.A349A	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	403	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GAGAGGCACCCGCTAGCCGCA	0.637000													50	100					4.00472e-15	1.04437e-14	0.003610	1	0
CSMD3	114788	broad.mit.edu	37	8	114326998	114326998	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:114326998G>C	ENST00000297405.5	-	2	447	c.203C>G	c.(202-204)aCt>aGt	p.T68S	CSMD3_ENST00000352409.3_Missense_Mutation_p.T68S|CSMD3_ENST00000343508.3_Missense_Mutation_p.T28S|CSMD3_ENST00000455883.2_Missense_Mutation_p.T68S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	68	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCTTTTAAAGTTCCACCACA	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	138					0	0	0.001984	0	0
ASNSD1	54529	broad.mit.edu	37	2	190530996	190530996	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:190530996G>T	ENST00000260952.4	+	4	551	c.138G>T	c.(136-138)caG>caT	p.Q46H	ASNSD1_ENST00000607535.1_3'UTR|ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607690.1_3'UTR	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	46	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTAACTACCAGTGTTTATTTT	0.378000													32	85					8.16721e-17	2.15809e-16	0.002096	1	0
PITPNM2	57605	broad.mit.edu	37	12	123482024	123482024	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:123482024C>T	ENST00000280562.5	-	10	1525	c.1320G>A	c.(1318-1320)ggG>ggA	p.G440G	PITPNM2_ENST00000542749.1_Silent_p.G440G|PITPNM2_ENST00000392428.1_Silent_p.G161G|PITPNM2_ENST00000320201.4_Silent_p.G440G			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	440					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGCTGGGGTCCCCGGCGCCTG	0.662000													28	87					0	0	0.005443	0	0
KMO	8564	broad.mit.edu	37	1	241729888	241729888	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:241729888C>T	ENST00000366559.4	+	9	1096	c.785C>T	c.(784-786)cCg>cTg	p.P262L	KMO_ENST00000366558.3_Missense_Mutation_p.P262L|KMO_ENST00000366557.4_Missense_Mutation_p.P262L	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	262					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AAATACTTTCCGGATGCCATC	0.353000													10	69					0	0	0.000978	0	0
ZNF644	84146	broad.mit.edu	37	1	91404033	91404033	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:91404033G>A	ENST00000370440.1	-	3	3095	c.2878C>T	c.(2878-2880)Ctt>Ttt	p.L960F	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.L960F|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	960					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTCTTCTCAAGAGACAAATCA	0.398000													13	47					0	0	0.001368	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673487	141673487	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:141673487C>T	ENST00000547270.1	-	1	86	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	1					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TTAGAGTCAACATGATGTCAC	0.448000													17	51					0	0	0.000958	0	0
FGF14	2259	broad.mit.edu	37	13	102375271	102375271	+	Silent	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr13:102375271G>C	ENST00000376131.4	-	5	764	c.669C>G	c.(667-669)gtC>gtG	p.V223V	FGF14_ENST00000376143.4_Silent_p.V218V|ITGBL1_ENST00000415285.1_3'UTR	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	218					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGGCTTCGGGACCGTTTCCC	0.478000													45	41					0	0	0.003610	0	0
NSUN7	79730	broad.mit.edu	37	4	40752855	40752856	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:40752855_40752856insT	ENST00000381782.2	+	2	640_641	c.145_146insT	c.(145-147)ggcfs	p.G49fs	NSUN7_ENST00000316607.5_Frame_Shift_Ins_p.G49fs	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CGTTTATGTCATGGCAGCCAAC	0.515													29	118	---	---	---	---					
FRYL	285527	broad.mit.edu	37	4	48550722	48550724	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:48550722_48550724delGAA	ENST00000537810.1	-	40	5475_5477	c.4871_4873delTTC	c.(4870-4875)cat>c	p.LH1624del	FRYL_ENST00000503238.1_In_Frame_Del_p.LH1624del|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_In_Frame_Del_p.LH1624del|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1624					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAAATTGCATGAAGAAGAAGATG	0.310													12	39	---	---	---	---					
THBS2	7058	broad.mit.edu	37	6	169648982	169648983	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr6:169648982_169648983delCG	ENST00000366787.3	-	4	387_388	c.138_139delCG	c.(136-141)cgggfs	p.RG46fs		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	46	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.R46R(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGTCGGGCCCGCGGAACTGCT	0.584													24	34	---	---	---	---					
PSIP1	11168	broad.mit.edu	37	9	15478476	15478485	+	Splice_Site	DEL	TGTCACTCTC	TGTCACTCTC	-			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr9:15478476_15478485delTGTCACTCTC	ENST00000380733.4	-	8	962_971	c.629_splice	c.e8+1	p.ESDI207_splice	PSIP1_ENST00000380715.1_Splice_Site_p.ESDI207_splice|PSIP1_ENST00000380716.4_Splice_Site_p.ESDI207_splice|PSIP1_ENST00000380738.4_Splice_Site_p.ESDI207_splice|PSIP1_ENST00000397519.2_Splice_Site_p.ESDI207_splice			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	207					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TAAACTCACATGTCACTCTCTGAAGGACAG	0.338													17	69	---	---	---	---					
IRF9	10379	broad.mit.edu	37	14	24631429	24631450	+	Frame_Shift_Del	DEL	CCCGGAGTGTGCTGGGATGATA	CCCGGAGTGTGCTGGGATGATA	-	rs145197850	byFrequency	TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:24631429_24631450delCCCGGAGTGTGCTGGGATGATA	ENST00000396864.3	+	2	363_384	c.76_97delCCCGGAGTGTGCTGGGATGATA	c.(76-99)cafs	p.PGVCWDDT26fs	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Intron	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	26					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.D32N(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		TGGGCAGTTTCCCGGAGTGTGCTGGGATGATACAGCTAAGAC	0.572													23	132	---	---	---	---					
C17orf53	78995	broad.mit.edu	37	17	42230139	42230145	+	Splice_Site	DEL	GCGCAAG	GCGCAAG	-			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:42230139_42230145delGCGCAAG	ENST00000319977.4	+	5	1680_1686	c.1449_splice	c.e5+1	p.LRK481_splice	C17orf53_ENST00000585683.1_Splice_Site_p.LRK481_splice|C17orf53_ENST00000245382.6_Intron	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	481								p.R482L(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCATGGTGCTGCGCAAGGTAAGGATTC	0.541													14	82	---	---	---	---					
CACNA1G	8913	broad.mit.edu	37	17	48653249	48653251	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:48653249_48653251delCAC	ENST00000352832.5	+	8	1858_1860	c.1486_1488delCAC	c.(1486-1488)del	p.H504del	CACNA1G_ENST00000513964.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000505165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507336.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000360761.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000359106.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000358244.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000416767.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.H504del	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	504	Poly-His.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCACCTGGTGcaccaccaccacc	0.700													2	4	---	---	---	---					
DAPK3	1613	broad.mit.edu	37	19	3964890	3964890	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:3964890delA	ENST00000545797.2	-	3	405	c.162delT	c.(160-162)cgfs	p.R54fs	DAPK3_ENST00000301264.3_Frame_Shift_Del_p.R54fs			O43293	DAPK3_HUMAN	death-associated protein kinase 3	54	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCACCCCACGCCGGCTGG	0.632													18	58	---	---	---	---					
NYX	60506	broad.mit.edu	37	X	41333914	41333915	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:41333914_41333915insA	ENST00000342595.2	+	2	1664_1665	c.1208_1209insA	c.(1207-1209)cgafs	p.R403fs	NYX_ENST00000378220.1_Frame_Shift_Ins_p.R403fs	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	403					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GGCCCGTCCCCAGAACCAGCGG	0.698													6	12	---	---	---	---					
RP1-154K9.2	0	broad.mit.edu	37	X	42384560	42384560	+	RNA	DEL	A	A	-			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:42384560delA	ENST00000411879.1	+	0	523																											CAGCCAAGGGAAAAAAAAAAA	0.323													7	3	---	---	---	---