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
ZNF646	9726	broad.mit.edu	37	16	31087973	31087973	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr16:31087973C>T	ENST00000394979.2	+	1	751	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	ZNF646_ENST00000300850.5_Missense_Mutation_p.P110S			O15015	ZN646_HUMAN	zinc finger protein 646	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCCCCCACGCCCCAAGGAAGC	0.597000													12	47					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135123764	135123764	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr10:135123764C>T	ENST00000359035.3	+	4	529	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	ZNF511_ENST00000368554.4_Missense_Mutation_p.R111W|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000361518.5_Missense_Mutation_p.R176W			Q8NB15	ZN511_HUMAN	zinc finger protein 511	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CGCGGACTTCCGGTTTGATAA	0.512000													24	83					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36291346	36291346	+	Silent	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:36291346C>A	ENST00000373210.3	+	5	800	c.555C>A	c.(553-555)ggC>ggA	p.G185G		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		TGGGAGGGGGCAGGGAGGTCT	0.478000													10	147					0.000673444	0.00069406	1	1	0
ARMC5	79798	broad.mit.edu	37	16	31473893	31473893	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr16:31473893C>T	ENST00000457010.2	+	3	1726	c.1025C>T	c.(1024-1026)cCa>cTa	p.P342L	ARMC5_ENST00000563544.1_Missense_Mutation_p.P342L|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.P342L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P437L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P374L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	342							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGAGCTAGCCCAACCTCCCAG	0.647000													14	37					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87138751	87138751	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr7:87138751C>T	ENST00000265724.3	-	27	3746	c.3329G>A	c.(3328-3330)cGa>cAa	p.R1110Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.R1046Q|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1110	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAGGTGTGCTCGGAGCCACTG	0.502000													18	67					0	0	1	0	0
MTIF3	219402	broad.mit.edu	37	13	28014281	28014281	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr13:28014281C>T	ENST00000381116.1	-	5	539	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	MTIF3_ENST00000431572.2_Missense_Mutation_p.R102Q|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Missense_Mutation_p.R102Q|MTIF3_ENST00000405591.2_Missense_Mutation_p.R102Q			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	102					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CACATTTGCTCGGTGCATGTT	0.413000													21	107					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216248067	216248067	+	Silent	SNP	A	A	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr2:216248067A>C	ENST00000354785.4	-	31	5403	c.5034T>G	c.(5032-5034)acT>acG	p.T1678T	FN1_ENST00000446046.1_Silent_p.T1587T|FN1_ENST00000443816.1_Silent_p.T1587T|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000432072.2_Silent_p.T1678T|FN1_ENST00000323926.6_Silent_p.T1678T|FN1_ENST00000359671.1_Silent_p.T1587T|FN1_ENST00000357867.4_Silent_p.T1587T|FN1_ENST00000357009.2_Silent_p.T1587T|FN1_ENST00000356005.4_Silent_p.T1587T|FN1_ENST00000346544.3_Silent_p.T1587T|FN1_ENST00000345488.5_Silent_p.T1587T|FN1_ENST00000336916.4_Silent_p.T1587T|FN1_ENST00000421182.1_Silent_p.T1587T			P02751	FINC_HUMAN	fibronectin 1	1678	Fibronectin type-III 12; extra domain.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCAGTTTTAGTTTTTGTTG	0.502000													28	96					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16631002	16631002	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:16631002G>A	ENST00000546361.2	-	15	2571	c.2420C>T	c.(2419-2421)cCa>cTa	p.P807L	C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.P818L|CHERP_ENST00000544299.1_5'UTR	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	807	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TCTTCTTCCTGGGGAGTACGA	0.647000													8	71					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7976464	7976464	+	Splice_Site	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:7976464G>T	ENST00000545011.1	+	9	1270		c.e9+1		MAP2K7_ENST00000397979.3_Splice_Site|MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000397981.3_Splice_Site			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7						activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	TCAAAGACTGGTGAGAACCTC	0.632000													3	10					0.004672	0.00476638	1	1	0
PDE10A	10846	broad.mit.edu	37	6	165756893	165756893	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr6:165756893T>C	ENST00000366882.1	-	20	2208	c.2054A>G	c.(2053-2055)gAa>gGa	p.E685G	PDE10A_ENST00000539869.2_Missense_Mutation_p.E695G|PDE10A_ENST00000354448.4_Missense_Mutation_p.E685G			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	685					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGCCCAGAATTCTGCATATAT	0.378000													13	52					0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40714726	40714726	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:40714726C>A	ENST00000393818.2	+	1	542	c.86C>A	c.(85-87)gCg>gAg	p.A29E	COASY_ENST00000590958.1_Missense_Mutation_p.A58E|COASY_ENST00000421097.2_Missense_Mutation_p.A29E|COASY_ENST00000420359.1_Missense_Mutation_p.A29E|COASY_ENST00000449624.1_Intron	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	29					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTGACCTCGGCGGCCCGGCTG	0.692000													12	67					6.40141e-05	6.87811e-05	1	1	0
SLC14A1	6563	broad.mit.edu	37	18	43329753	43329753	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr18:43329753C>G	ENST00000321925.4	+	10	1239	c.1007C>G	c.(1006-1008)cCa>cGa	p.P336R	SLC14A1_ENST00000402943.2_Missense_Mutation_p.P231R|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P228R|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P392R|SLC14A1_ENST00000436407.3_Missense_Mutation_p.P392R|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P204R|SLC14A1_ENST00000589700.1_Missense_Mutation_p.Q287E|SLC14A1_ENST00000586142.1_Missense_Mutation_p.P336R|SLC14A1_ENST00000591541.1_Missense_Mutation_p.P40R	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	336						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GTTGGATTGCCAGCTTGTACC	0.493000													16	69					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	50					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													9	80					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585749	82585749	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr7:82585749C>A	ENST00000423517.2	-	5	4857	c.4520G>T	c.(4519-4521)aGa>aTa	p.R1507I	PCLO_ENST00000333891.8_Missense_Mutation_p.R1507I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1438					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1507K(2)|p.R1438K(1)		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						ATAAGGCTCTCTTCTAGTAGT	0.383000													12	43					0.00010058	0.000106932	1	1	0
PTH2R	5746	broad.mit.edu	37	2	209293016	209293016	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr2:209293016C>A	ENST00000272847.2	+	2	379	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	56						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CACAGCTCAACTCCAGGAGGG	0.438000													7	16					2.0095e-06	2.20608e-06	1	1	0
PRPF4B	8899	broad.mit.edu	37	6	4032971	4032971	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr6:4032971G>C	ENST00000337659.6	+	2	1320	c.1220G>C	c.(1219-1221)aGa>aCa	p.R407T	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R393T	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	407	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCAGAGAGGAGACGACTTTCT	0.433000													19	80					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14798938	14798938	+	Silent	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:14798938G>A	ENST00000253697.3	+	13	2453	c.2001G>A	c.(1999-2001)ccG>ccA	p.P667P	C3orf20_ENST00000435614.1_Silent_p.P545P|C3orf20_ENST00000412910.1_Silent_p.P545P	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	667						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGACTGCCCGCTGGTGCTGC	0.672000													10	26					0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158962650	158962650	+	Silent	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr2:158962650G>A	ENST00000605860.1	+	5	319	c.273G>A	c.(271-273)ttG>ttA	p.L91L	UPP2_ENST00000005756.4_Silent_p.L34L|UPP2_ENST00000409859.4_Silent_p.L91L|UPP2_ENST00000460456.1_3'UTR			O95045	UPP2_HUMAN	uridine phosphorylase 2	34					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						ACTTGGATTTGATGGATGAAG	0.308000													6	19					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233651883	233651883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr2:233651883G>T	ENST00000373566.3	+	10	819	c.622G>T	c.(622-624)Gga>Tga	p.G208*	GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.G208*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.G186*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.G17*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.G208*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.G186*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.G186*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	186	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGAGGAAGGTGGACCAACATC	0.388000													11	47					2.27111e-07	2.60662e-07	1	1	0
TANGO2	128989	broad.mit.edu	37	22	20041042	20041042	+	Silent	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:20041042C>T	ENST00000327374.4	+	5	526	c.348C>T	c.(346-348)taC>taT	p.Y116Y	TANGO2_ENST00000401833.1_Silent_p.Y157Y|TANGO2_ENST00000401886.1_Intron|TANGO2_ENST00000398042.2_Intron|TANGO2_ENST00000456048.1_Silent_p.Y121Y|TANGO2_ENST00000447208.2_Silent_p.Y116Y|TANGO2_ENST00000434570.2_Silent_p.Y157Y|TANGO2_ENST00000432883.1_Intron|TANGO2_ENST00000479679.1_3'UTR|TANGO2_ENST00000420290.2_Intron	NM_152906.4	NP_690870.3			transport and golgi organization 2 homolog (Drosophila)																		GCCATCTGTACAATGGCTTCA	0.592000													7	42					0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29793353	29793353	+	Silent	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr18:29793353G>A	ENST00000269202.6	+	11	1457	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V	MEP1B_ENST00000581447.1_Silent_p.V470V	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	470	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TAGCCCATGTGACTAATGCAG	0.418000													8	24					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86189094	86189094	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr15:86189094C>G	ENST00000394518.2	+	10	4378	c.4283C>G	c.(4282-4284)tCa>tGa	p.S1428*	RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1428*	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1428					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGTGTACCTCAAAACAAGGT	0.383000													25	58					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104337639	104337639	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr8:104337639C>G	ENST00000358755.4	+	4	1622	c.1305C>G	c.(1303-1305)taC>taG	p.Y435*	FZD6_ENST00000540287.1_Nonsense_Mutation_p.Y130*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.Y403*|FZD6_ENST00000522566.1_Nonsense_Mutation_p.Y435*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	435					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCGGATGTTACGTCTATGAGC	0.418000													32	140					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952065	178952065	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:178952065G>A	ENST00000263967.3	+	21	3277	c.3120G>A	c.(3118-3120)atG>atA	p.M1040I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1040	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.M1040I(2)		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)			AGTATTTCATGAAACAAATGA	0.388000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			23	72					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34596245	34596245	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr20:34596245G>A	ENST00000373973.3	+	9	1170	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	CNBD2_ENST00000349339.1_Missense_Mutation_p.E333K|CNBD2_ENST00000538900.1_Missense_Mutation_p.E333K					cyclic nucleotide binding domain containing 2																		AAGATTTAAGGAATTCCAGAT	0.403000													27	77					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241797567	241797567	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:241797567C>T	ENST00000366553.1	-	1	1665	c.1502G>A	c.(1501-1503)tGc>tAc	p.C501Y	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	501					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTCCTTCATGCATGTCATGGT	0.413000													17	70					0	0	1	0	0
PMS2CL	441194	broad.mit.edu	37	7	6777369	6777369	+	RNA	SNP	T	T	C	rs35291651	by1000genomes	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr7:6777369T>C	ENST00000486256.1	+	0	1496					NR_002217.1																						ACGTGTCAGCTTCTCAGGTTG	0.348000													3	29					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6755014	6755014	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr5:6755014C>A	ENST00000230859.6	+	13	1714	c.1585C>A	c.(1585-1587)Cac>Aac	p.H529N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	529					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAGGAAAAAACACACACACAC	0.657000													8	24					3.09899e-07	3.51683e-07	1	1	0
LMLN	89782	broad.mit.edu	37	3	197687111	197687111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:197687111C>T	ENST00000330198.4	+	1	41	c.19C>T	c.(19-21)Ccg>Tcg	p.P7S	LMLN_ENST00000420910.2_Missense_Mutation_p.P7S|LMLN_ENST00000482695.1_5'UTR	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	7					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GACGCTCGGCCCGAAGATGGC	0.746000													13	32					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154585912	154585912	+	Splice_Site	SNP	G	G	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr7:154585912G>C	ENST00000404039.1	+	11	1655	c.1068_splice	c.e11+1	p.K356_splice	DPP6_ENST00000377770.3_Splice_Site_p.K420_splice|DPP6_ENST00000332007.3_Splice_Site_p.K358_splice|DPP6_ENST00000427557.1_Splice_Site_p.K313_splice	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	420					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGCACGAAGGTACGCGGGG	0.692000													4	13					0	0	1	0	0
ZNF169	169841	broad.mit.edu	37	9	97063546	97063546	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr9:97063546C>T	ENST00000395395.2	+	5	1796	c.1706C>T	c.(1705-1707)cCg>cTg	p.P569L	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	569						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GGGGAGAAGCCGTATGTCTGC	0.562000													12	54					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580457	580457	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr18:580457A>G	ENST00000327228.3	+	1	91	c.49A>G	c.(49-51)Aga>Gga	p.R17G		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	17					cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CGGCCAAAAGAGAAAGGTGGC	0.622000													5	14					0	0	1	0	0
COMT	1312	broad.mit.edu	37	22	19951227	19951227	+	Missense_Mutation	SNP	C	C	T	rs145228139	byFrequency	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:19951227C>T	ENST00000361682.6	+	4	810	c.428C>T	c.(427-429)cCc>cTc	p.P143L	COMT_ENST00000407537.1_Missense_Mutation_p.P93L|COMT_ENST00000406520.3_Missense_Mutation_p.P143L|COMT_ENST00000403710.1_Missense_Mutation_p.P143L|COMT_ENST00000403184.1_Missense_Mutation_p.P143L|COMT_ENST00000449653.1_Missense_Mutation_p.P93L|COMT_ENST00000493893.1_3'UTR	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	143					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	GAGATCAACCCCGACTGTGCC	0.632000													5	20					0	0	1	0	0
HYLS1	219844	broad.mit.edu	37	11	125769445	125769445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:125769445G>A	ENST00000425380.2	+	3	963	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.R61Q|HYLS1_ENST00000356438.3_Missense_Mutation_p.R61Q	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	61						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CCAGGGAAGCGACCTGCTCTT	0.507000													18	36					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39788302	39788302	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr20:39788302C>G	ENST00000373272.2	+	2	679	c.274C>G	c.(274-276)Cgc>Ggc	p.R92G	PLCG1_ENST00000244007.3_Missense_Mutation_p.R92G|PLCG1_ENST00000373271.1_Missense_Mutation_p.R92G	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	92	PH 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGACTTTGATCGCTATCAAGA	0.517000													12	44					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149966	34149966	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chrX:34149966C>A	ENST00000346193.3	-	1	481	c.430G>T	c.(430-432)Gat>Tat	p.D144Y		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	144										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGTAGGAGATCTGGAGGCATA	0.557000													30	18					6.38683e-12	7.50081e-12	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11696832	11696832	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:11696832T>G	ENST00000262442.3	+	42	8142	c.8074T>G	c.(8074-8076)Tcc>Gcc	p.S2692A	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2692A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2692					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATTCTCTTCTCCTCAGTGGA	0.388000													20	44					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43576014	43576014	+	Missense_Mutation	SNP	G	G	C	rs141385747	by1000genomes	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:43576014G>C	ENST00000406487.1	-	4	900	c.802C>G	c.(802-804)Ccg>Gcg	p.P268A		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	268	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.P268S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TACTGTGCCGGTGGGTTAGAG	0.453000													115	181					0	0	1	0	0
SGTA	6449	broad.mit.edu	37	19	2767622	2767622	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:2767622G>A	ENST00000221566.2	-	3	324	c.163C>T	c.(163-165)Cct>Tct	p.P55S		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	55					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGTCTGAGGGAGCGCAAGG	0.597000													6	22					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416485	187416485	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:187416485T>C	ENST00000358241.1	-	2	907	c.479A>G	c.(478-480)gAg>gGg	p.E160G		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	160					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		AACGATGCCCTCCTGGCAGGC	0.667000													17	26					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711255	41711255	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr21:41711255G>T	ENST00000400454.1	-	7	1775	c.1298C>A	c.(1297-1299)aCa>aAa	p.T433K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	433	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGCAAAGGTGTTCCCTTCAC	0.532000													11	27					0.000673444	0.00069406	1	1	0
WISP2	8839	broad.mit.edu	37	20	43353459	43353459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr20:43353459C>T	ENST00000372868.2	+	4	701	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	WISP2_ENST00000372865.4_Intron|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.R120C|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	120	VWFC.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTGCAGCATCCGCTGCCGCTG	0.682000													9	13					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152651161	152651161	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr6:152651161T>C	ENST00000367255.5	-	78	15260	c.14659A>G	c.(14659-14661)Ata>Gta	p.I4887V	SYNE1_ENST00000423061.1_Missense_Mutation_p.I4816V|SYNE1_ENST00000448038.1_Missense_Mutation_p.I4816V|SYNE1_ENST00000265368.4_Missense_Mutation_p.I4887V|SYNE1_ENST00000341594.5_Missense_Mutation_p.I4634V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4887					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGAAGTCTATACTCTGCACC	0.542000										HNSCC(10;0.0054)			21	78					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661208	22661208	+	RNA	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:22661208C>T	ENST00000426066.1	+	0	300					NR_027293.1																						CTGAATCATGCAGAATTTGAA	0.408000													6	60					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226015	79226015	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:79226015G>A	ENST00000374759.3	-	13	2308	c.1925C>T	c.(1924-1926)cCc>cTc	p.P642L	SLC38A10_ENST00000288439.5_Missense_Mutation_p.P642L	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	642					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTCCTCTGCGGGCTGCCCTGT	0.697000													55	101					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36524575	36524575	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:36524575G>A	ENST00000273183.3	+	3	780	c.480G>A	c.(478-480)atG>atA	p.M160I	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Intron	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	160					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AGCGGTGCATGGGCAAGCTGG	0.577000													9	30					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36986127	36986127	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr5:36986127A>G	ENST00000282516.8	+	10	3344	c.2845A>G	c.(2845-2847)Agg>Ggg	p.R949G	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.R949G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	949					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTTGGGGGGCAGGTCTGGTGC	0.398000													32	76					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720248	140720248	+	Silent	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr5:140720248C>T	ENST00000394576.2	+	1	1710	c.1710C>T	c.(1708-1710)gaC>gaT	p.D570D	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACTG	0.642000													76	97					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120222864	120222864	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr12:120222864A>G	ENST00000392521.2	-	11	1356	c.1301T>C	c.(1300-1302)gTt>gCt	p.V434A	CIT_ENST00000261833.7_Missense_Mutation_p.V434A	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	434					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACCCGACACAACAGACCTAGG	0.463000													5	32					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101190244	101190244	+	Silent	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:101190244G>A	ENST00000294728.2	+	4	827	c.726G>A	c.(724-726)gtG>gtA	p.V242V	VCAM1_ENST00000370119.4_Silent_p.V180V|VCAM1_ENST00000347652.2_Silent_p.V242V|VCAM1_ENST00000370115.1_Silent_p.V242V	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	242	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTGGCTCTGTGACCATGACCT	0.418000													19	49					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262440	45262440	+	Silent	SNP	G	G	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr5:45262440G>C	ENST00000303230.4	-	8	2313	c.2256C>G	c.(2254-2256)tcC>tcG	p.S752S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	752	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGGCTGCGGGGACGgctgct	0.642000													12	33					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	49					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12637897	12637897	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:12637897C>G	ENST00000339282.7	-	4	1221	c.1025G>C	c.(1024-1026)tGt>tCt	p.C342S	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGTTTTACCACATTTATTACA	0.388000													19	68					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54542428	54542428	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr15:54542428G>T	ENST00000545554.1	+	7	3234	c.3234G>T	c.(3232-3234)atG>atT	p.M1078I	UNC13C_ENST00000537900.1_Missense_Mutation_p.M1076I|UNC13C_ENST00000260323.11_Missense_Mutation_p.M1078I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1078					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CACAGAAAATGCACGTCTTCA	0.418000													5	22					5.9392e-07	6.6651e-07	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22661187	22661187	+	RNA	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:22661187G>A	ENST00000426066.1	+	0	279					NR_027293.1																						CCCCCACCCCGTCATGTACAG	0.413000													6	37					0	0	1	0	0
LRRC10	376132	broad.mit.edu	37	12	70003993	70003993	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr12:70003993G>A	ENST00000361484.3	-	1	949	c.626C>T	c.(625-627)gCg>gTg	p.A209V		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	209						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGACAGGTGCGCCAGGCTGGG	0.572000													13	58					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73753183	73753183	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:73753183A>C	ENST00000334126.7	-	29	5802	c.5576T>G	c.(5575-5577)cTt>cGt	p.L1859R	C2CD3_ENST00000313663.7_Missense_Mutation_p.L1859R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1859						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTCTCCCTGAAGATGCAGGGA	0.468000													7	61					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53905881	53905881	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr15:53905881A>C	ENST00000396328.1	-	16	3093	c.2854T>G	c.(2854-2856)Tac>Gac	p.Y952D	WDR72_ENST00000559418.1_Missense_Mutation_p.Y962D|WDR72_ENST00000360509.5_Missense_Mutation_p.Y952D|WDR72_ENST00000557913.1_Missense_Mutation_p.Y949D	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	952										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGCAACTGTAGAAGCTTGAC	0.333000													17	43					0	0	1	0	0
SPOCK2	9806	broad.mit.edu	37	10	73822656	73822656	+	Silent	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr10:73822656G>A	ENST00000373109.2	-	11	1581	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	SPOCK2_ENST00000317376.4_Silent_p.I379I|SPOCK2_ENST00000536168.1_Silent_p.I379I	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	379					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGAAGCCCACGATGTCATCTG	0.672000													6	13					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			11	17					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	711667	711667	+	Silent	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr16:711667C>A	ENST00000549091.1	+	31	3836	c.3744C>A	c.(3742-3744)ctC>ctA	p.L1248L	WDR90_ENST00000293879.4_Silent_p.L1248L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1248										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCACCCGCCTCCCGGAGCCGG	0.687000													9	46					0.000274275	0.00028856	1	1	0
KCNG2	26251	broad.mit.edu	37	18	77659548	77659548	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr18:77659548G>A	ENST00000316249.3	+	2	1133	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	378					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ATGGTCCCGCGCAGCCTGCCC	0.687000													12	34					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957134	12957134	+	Silent	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr8:12957134G>A	ENST00000276297.4	-	9	3121	c.2712C>T	c.(2710-2712)ccC>ccT	p.P904P	DLC1_ENST00000520226.1_Silent_p.P393P|DLC1_ENST00000512044.2_Silent_p.P501P|DLC1_ENST00000358919.2_Silent_p.P467P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	904					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGTCCAGCTCGGGGAAGATGT	0.582000													5	25					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33765661	33765661	+	Silent	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr15:33765661G>A	ENST00000389232.4	+	2	163	c.93G>A	c.(91-93)aaG>aaA	p.K31K	RYR3_ENST00000415757.3_Silent_p.K31K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	31					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATTCATAAGGAGCAGAGGA	0.567000													27	62					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17084459	17084459	+	RNA	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:17084459G>T	ENST00000455405.2	-	0	430																											AGCAGGACAAGCTGGGAGCCT	0.597000													6	109					5.18039e-06	5.62602e-06	1	1	0
UFL1	23376	broad.mit.edu	37	6	96982156	96982156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr6:96982156C>T	ENST00000369278.4	+	7	680	c.614C>T	c.(613-615)tCt>tTt	p.S205F		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	205	Involved in CDK5RAP3-binding.|Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										GCTGTGAATTCTTTGATTTCA	0.259000													4	29					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26955288	26955288	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:26955288G>T	ENST00000528896.2	-	24	4663	c.4589C>A	c.(4588-4590)tCa>tAa	p.S1530*	KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.S1387*|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.S1387*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1530						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTTACCTCCTGATGACCCCTT	0.507000													8	68					0.0477658	0.0482434	1	1	0
PLAA	9373	broad.mit.edu	37	9	26910396	26910396	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr9:26910396T>C	ENST00000397292.3	-	12	2014	c.1597A>G	c.(1597-1599)Att>Gtt	p.I533V	PLAA_ENST00000520884.1_Missense_Mutation_p.I533V	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	533	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GGGAAATAAATATTCATTGTT	0.313000													10	31					0	0	1	0	0
ZNF763	284390	broad.mit.edu	37	19	12089640	12089640	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:12089640A>G	ENST00000343949.5	+	4	1065	c.910A>G	c.(910-912)Ata>Gta	p.I304V	ZNF763_ENST00000358987.3_Missense_Mutation_p.I301V|ZNF763_ENST00000590798.1_Missense_Mutation_p.I321V|ZNF763_ENST00000545530.1_Missense_Mutation_p.I179V|ZNF763_ENST00000538752.1_Missense_Mutation_p.I321V	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TTCCTTTCAAATACATGAAAG	0.393000													12	36					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138711911	138711911	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chrX:138711911A>T	ENST00000520602.1	-	7	846	c.561T>A	c.(559-561)gaT>gaA	p.D187E	MCF2_ENST00000370573.4_Missense_Mutation_p.D127E|MCF2_ENST00000370576.4_Missense_Mutation_p.D127E|MCF2_ENST00000536274.1_Missense_Mutation_p.D88E|MCF2_ENST00000370578.4_Missense_Mutation_p.D272E|MCF2_ENST00000519895.1_Missense_Mutation_p.D187E|MCF2_ENST00000338585.6_Missense_Mutation_p.D127E|MCF2_ENST00000414978.1_Missense_Mutation_p.D187E			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	127					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGAGGGAATATCATCTGGTA	0.398000													48	52					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215606	20215606	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr14:20215606C>T	ENST00000331723.1	+	1	20	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAACAAGATTCTAATGTGACA	0.333000													13	120					0	0	1	0	0
ENDOD1	23052	broad.mit.edu	37	11	94862701	94862701	+	Silent	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:94862701G>T	ENST00000278505.4	+	2	1579	c.1461G>T	c.(1459-1461)cgG>cgT	p.R487R		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	487						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TCTGCAAGCGGATTGGCTACA	0.433000													11	53					1.58986e-06	1.76457e-06	1	1	0
CYP2D7	1564	broad.mit.edu	37	22	42539549	42539549	+	RNA	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:42539549G>A	ENST00000424775.1	-	0	290				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						CAGGCCAGCTGCAGGCTGAAC	0.701000													4	11					0	0	1	0	0
JRKL	8690	broad.mit.edu	37	11	96125155	96125155	+	Missense_Mutation	SNP	G	G	A	rs148141652		TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:96125155G>A	ENST00000458427.1	+	1	1998	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Missense_Mutation_p.E448K	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	448					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		AACTGATAGCGAAATCATCAG	0.408000													16	35					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113277717	113277717	+	Missense_Mutation	SNP	G	G	A	rs144899938	byFrequency	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr8:113277717G>A	ENST00000297405.5	-	60	9855	c.9611C>T	c.(9610-9612)aCg>aTg	p.T3204M	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3134M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3164M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3035M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3204	Sushi 24.					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						CAATTCCATCGTGTAGCCTGG	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			30	94					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113211391	113211391	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:113211391G>C	ENST00000393020.1	+	11	1237	c.832G>C	c.(832-834)Gaa>Caa	p.E278Q	TTC12_ENST00000314756.3_Missense_Mutation_p.E278Q|TTC12_ENST00000529221.1_Missense_Mutation_p.E278Q|TTC12_ENST00000483239.2_Missense_Mutation_p.E284Q			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	278							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TTCAGGCACAGAACAAACTTT	0.443000													9	33					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	101017691	101017691	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr9:101017691G>A	ENST00000375066.5	-	1	224	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.P45S	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	45	Interaction with CADH1.|PH.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGTTTCTTGGGGACCGCCTCC	0.612000													4	58					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147192	26147192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr16:26147192C>T	ENST00000331351.5	+	2	1386	c.994C>T	c.(994-996)Cga>Tga	p.R332*	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	332					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAGTGCCATTCGAATAGGGAT	0.552000													40	150					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52860601	52860601	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr4:52860601G>T	ENST00000343457.3	-	4	2593	c.2587C>A	c.(2587-2589)Ccc>Acc	p.P863T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	863						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGATCTGAGGGAACTTCAGCA	0.378000													19	61					1.37522e-17	1.63409e-17	1	1	0
DBT	1629	broad.mit.edu	37	1	100684182	100684182	+	Splice_Site	SNP	A	A	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:100684182A>G	ENST00000370132.3	-	5	568	c.555_splice	c.e5+1	p.N185_splice	DBT_ENST00000370131.3_Splice_Site_p.N185_splice	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	185					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GAGAACTTACATTGTTTTCCA	0.388000													21	98					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72975038	72975038	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr8:72975038A>C	ENST00000262209.4	-	6	1010	c.803T>G	c.(802-804)gTg>gGg	p.V268G		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	268						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGTTACCTCCACTGGGTCTAT	0.358000													21	44					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19679321	19679321	+	Silent	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr20:19679321C>A	ENST00000328041.6	+	15	1913	c.1716C>A	c.(1714-1716)tcC>tcA	p.S572S		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	572						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATTACGGATCCTACGTAAGTG	0.537000													3	9					0.115264	0.115264	1	1	0
TMEM69	51249	broad.mit.edu	37	1	46158947	46158947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:46158947delC	ENST00000372025.4	+	3	1271	c.114delC	c.(112-114)ctfs	p.L38fs	TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	38						integral to membrane				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					AGATGTCTCTCCAGCAAAACT	0.423													7	330	---	---	---	---					
MRPL37	51253	broad.mit.edu	37	1	54665941	54665950	+	Frame_Shift_Del	DEL	AGGCGGGCGC	AGGCGGGCGC	-			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:54665941_54665950delAGGCGGGCGC	ENST00000605337.1	+	1	73_82	c.25_34delAGGCGGGCGC	c.(25-36)tafs	p.RRAL9fs	MRPL37_ENST00000487096.1_Intron|MRPL37_ENST00000360840.5_Frame_Shift_Del_p.RRAL9fs|MRPL37_ENST00000336230.6_5'UTR			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	9					translation	mitochondrial ribosome	structural constituent of ribosome	p.L12I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CGGGCCCGCAAGGCGGGCGCTAGCTGGCTC	0.705													18	106	---	---	---	---					
MYO16	23026	broad.mit.edu	37	13	109707832	109707838	+	Frame_Shift_Del	DEL	TTGATAA	TTGATAA	-			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr13:109707832_109707838delTTGATAA	ENST00000356711.2	+	27	3284_3290	c.3158_3164delTTGATAA	c.(3157-3165)ttfs	p.FDN1053fs	MYO16_ENST00000457511.2_Frame_Shift_Del_p.FDN565fs|MYO16_ENST00000357550.2_Frame_Shift_Del_p.FDN1053fs	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1053	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCAGATACTTTTGATAATTTTTACGTG	0.415													14	69	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23450598	23450599	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr14:23450598_23450599insA	ENST00000262713.2	-	1	1252_1253	c.877_878insT	c.(877-879)agafs	p.R293fs	AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.R293fs|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	293	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										TCCGGCTTCTCGCCCACCGGTG	0.708													10	22	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													3	6	---	---	---	---					
REXO1	57455	broad.mit.edu	37	19	1827021	1827023	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:1827021_1827023delGGA	ENST00000170168.4	-	2	1859_1861	c.1765_1767delTCC	c.(1765-1767)del	p.S589del		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	589	Ser-rich.					nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTggaggtggaggaggaggag	0.700													2	4	---	---	---	---					
ZNF579	163033	broad.mit.edu	37	19	56089908	56089909	+	In_Frame_Ins	INS	-	-	CCG	rs141478862	by1000genomes	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:56089908_56089909insCCG	ENST00000325421.4	-	2	1125_1126	c.1097_1098insCGG	c.(1096-1098)gca>gCGGca	p.366_366A>AA		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	366	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G366_Q367insG(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CTCCGTTCTGCCCTTCTCCCCC	0.748													4	2	---	---	---	---					
