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
G6PC2	57818	broad.mit.edu	37	2	169764282	169764282	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:169764282C>T	ENST00000375363.3	+	5	853	c.761C>T	c.(760-762)aCg>aTg	p.T254M	G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000421979.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	254					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						ATTGACACCACGCCTTTTGCT	0.522000													17	46					0	0	1	0	0
MRPS30	10884	broad.mit.edu	37	5	44809523	44809523	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr5:44809523G>T	ENST00000507110.1	+	1	497	c.459G>T	c.(457-459)gaG>gaT	p.E153D		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	153					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TGCTGCAGGAGCACTTCTACC	0.692000													8	11					0.0477658	0.0496957	1	1	0
DOC2A	8448	broad.mit.edu	37	16	30020381	30020381	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:30020381C>G	ENST00000350119.4	-	5	653	c.463G>C	c.(463-465)Gtg>Ctg	p.V155L	DOC2A_ENST00000564944.1_Missense_Mutation_p.V155L|DOC2A_ENST00000564979.1_Missense_Mutation_p.V155L	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	155	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TCATTCCACACGGGATTCAGT	0.567000													7	60					0	0	1	0	0
GATA1	2623	broad.mit.edu	37	X	48652249	48652249	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:48652249G>T	ENST00000376670.3	+	6	1031	c.920G>T	c.(919-921)cGc>cTc	p.R307L	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	307					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						ACTCGAAACCGCAAGGCATCT	0.587000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								3	13					0.00024832	0.000276508	1	1	0
MT-ND5	4540	broad.mit.edu	37	MT	13463	13463	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrM:13463G>A	ENST00000361567.2	+	1	1127	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	376					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CCTCACCATTGGCAGCCTAGC	0.453000													8	3					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067611	9067611	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:9067611G>T	ENST00000397910.4	-	3	20038	c.19835C>A	c.(19834-19836)gCc>gAc	p.A6612D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6614	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGAGTAGGCTGGGACAGA	0.443000													49	87					2.82306e-37	4.65241e-37	1	1	0
LINC01420	550643	broad.mit.edu	37	X	56763620	56763620	+	RNA	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:56763620G>T	ENST00000374922.4	+	0	468					NR_015367.2																						AAAATTGTTTGTTTCAAGTTT	0.323000													3	16					0.115264	0.118722	1	1	0
CABYR	26256	broad.mit.edu	37	18	21736900	21736900	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr18:21736900C>A	ENST00000399481.2	+	2	1293	c.1141C>A	c.(1141-1143)Ctt>Att	p.L381I	CABYR_ENST00000399496.3_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000415309.2_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	479					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TCCAGAAGGCCTTACTGCACC	0.468000													14	26					6.31663e-08	7.69956e-08	1	1	0
MAMLD1	10046	broad.mit.edu	37	X	149631068	149631068	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:149631068G>T	ENST00000370401.2	+	3	437	c.127G>T	c.(127-129)Gat>Tat	p.D43Y	MAMLD1_ENST00000262858.5_Missense_Mutation_p.D43Y|MAMLD1_ENST00000426613.2_Intron|MAMLD1_ENST00000468306.1_Intron|MAMLD1_ENST00000432680.2_Intron			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	43					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGAAGAAGATTTATCTTT	0.483000													12	46					1.45105e-14	2.13512e-14	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113237134	113237134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:113237134C>A	ENST00000297405.5	-	71	11234	c.10990G>T	c.(10990-10992)Gga>Tga	p.G3664*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G3495*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G3624*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G3594*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3664						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						ACTGAACATCCTGTATACTGT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	191					1.52009e-12	2.15958e-12	1	1	0
FLG	2312	broad.mit.edu	37	1	152279739	152279739	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:152279739G>A	ENST00000368799.1	-	3	7658	c.7623C>T	c.(7621-7623)gcC>gcT	p.A2541A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2541	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGCTGTCGGCCCGAGAGG	0.582000									Ichthyosis				8	392					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50139803	50139803	+	Missense_Mutation	SNP	C	C	A	rs145325613	byFrequency	TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr20:50139803C>A	ENST00000371564.3	-	2	1196	c.977G>T	c.(976-978)aGc>aTc	p.S326I	NFATC2_ENST00000396009.3_Missense_Mutation_p.S326I|NFATC2_ENST00000414705.1_Missense_Mutation_p.S306I	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	326					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.S326N(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGGGTCAGGGCTGGTCTTCCA	0.692000													17	37					5.03518e-11	6.7794e-11	1	1	0
DUSP21	63904	broad.mit.edu	37	X	44703617	44703617	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:44703617G>A	ENST00000339042.4	+	1	369	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	80	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CGTGACTCGCGTCTCTACGAC	0.537000													15	124					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1321485	1321485	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr4:1321485C>G	ENST00000303400.4	+	5	713	c.650C>G	c.(649-651)gCt>gGt	p.A217G	MAEA_ENST00000452175.2_Missense_Mutation_p.A138G|MAEA_ENST00000505839.1_Missense_Mutation_p.A169G|MAEA_ENST00000264750.6_Missense_Mutation_p.A176G|MAEA_ENST00000505177.2_Missense_Mutation_p.A255G|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000510794.1_Missense_Mutation_p.A216G	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	217					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			AGACTGGACGCTGTGAGGTAG	0.602000													13	26					0	0	1	0	0
JADE3	9767	broad.mit.edu	37	X	46913915	46913915	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:46913915A>G	ENST00000218343.4	+	9	1626	c.1328A>G	c.(1327-1329)aAt>aGt	p.N443S	PHF16_ENST00000397189.1_Missense_Mutation_p.N443S	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		443					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AGTAACTTCAATAAGCCATTA	0.453000													11	39					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583376	10583376	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:10583376C>A	ENST00000304501.1	-	2	1117	c.1039G>T	c.(1039-1041)Ggg>Tgg	p.G347W	SOX7_ENST00000553390.1_Missense_Mutation_p.G399W|SOX7_ENST00000554914.1_Missense_Mutation_p.G399W	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	347	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GCCATGGCCCCTGTGGCGGAG	0.617000													6	44					0.217242	0.221544	1	1	0
TEX11	56159	broad.mit.edu	37	X	69825332	69825332	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:69825332C>A	ENST00000395889.2	-	25	2186	c.2031G>T	c.(2029-2031)ctG>ctT	p.L677L	TEX11_ENST00000344304.3_Silent_p.L677L|TEX11_ENST00000374333.2_Silent_p.L662L|TEX11_ENST00000374320.2_Silent_p.L352L	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	677							protein binding	p.L662L(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCCGTGCAATCAGAATTACTT	0.388000													8	58					0.00307968	0.00332154	1	1	0
SERPINB3	6317	broad.mit.edu	37	18	61328409	61328409	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr18:61328409G>A	ENST00000283752.5	-	2	185	c.42C>T	c.(40-42)gaC>gaT	p.D14D	SERPINB3_ENST00000332821.8_Silent_p.D14D|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	14					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GTTGGAACAGGTCGAACATGA	0.433000													12	188					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076071	9076071	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:9076071A>G	ENST00000397910.4	-	3	11578	c.11375T>C	c.(11374-11376)aTg>aCg	p.M3792T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3793	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCCTTGCCATTGCAGCTGG	0.507000													45	65					0	0	1	0	0
CLHC1	130162	broad.mit.edu	37	2	55403124	55403124	+	Splice_Site	SNP	T	T	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:55403124T>G	ENST00000401408.1	-	13	1910		c.e13-2		CLHC1_ENST00000494539.1_Splice_Site|CLHC1_ENST00000406437.2_Splice_Site|CLHC1_ENST00000407122.1_Splice_Site|CLHC1_ENST00000406076.1_Splice_Site	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		CTACTGCATCTGTGGGGAAAA	0.303000													16	25					0	0	1	0	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119349	32119349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr21:32119349C>A	ENST00000333892.2	-	1	202	c.172G>T	c.(172-174)Gga>Tga	p.G58*		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	58						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						cagccatatccacagccagag	0.507000													18	52					1.33834e-09	1.72311e-09	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91133872	91133872	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:91133872C>A	ENST00000373094.1	+	2	3478	c.2633C>A	c.(2632-2634)cCt>cAt	p.P878H	PCDH11X_ENST00000406881.1_Missense_Mutation_p.P878H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P878H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P878H|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P878H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P878H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P878H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P878H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P878H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	878					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						aagCATTCCCCTAAGAACTTG	0.388000													14	35					1.05317e-09	1.36448e-09	1	1	0
GPR45	11250	broad.mit.edu	37	2	105858376	105858376	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:105858376G>A	ENST00000258456.1	+	1	177	c.61G>A	c.(61-63)Gcc>Acc	p.A21T		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	21						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CACCAGCAACGCCTCAGACTC	0.602000													39	83					0	0	1	0	0
LTB4R	1241	broad.mit.edu	37	14	24785514	24785514	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:24785514C>A	ENST00000396789.4	+	2	2382	c.657C>A	c.(655-657)acC>acA	p.T219T	LTB4R_ENST00000396782.2_Silent_p.T219T|LTB4R_ENST00000345363.3_Silent_p.T219T	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	219					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GCCGCCGCACCGGCCGCCTGG	0.716000													8	24					0.00829132	0.00875903	1	1	0
RNF123	63891	broad.mit.edu	37	3	49758482	49758482	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:49758482C>G	ENST00000327697.6	+	38	3912	c.3768C>G	c.(3766-3768)atC>atG	p.I1256M	RNF123_ENST00000433785.1_Missense_Mutation_p.I368M|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000480687.1_3'UTR|GMPPB_ENST00000308375.6_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1256						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCTGCCCCATCTGCTATGCCC	0.607000													5	67					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67426434	67426434	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:67426434T>A	ENST00000355520.5	-	10	1555	c.914A>T	c.(913-915)cAg>cTg	p.Q305L	OPHN1_ENST00000540071.1_Missense_Mutation_p.Q305L	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	305	PH.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						ACCTGGCTTCTGCTCCATAGG	0.408000													17	40					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44792290	44792290	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:44792290C>T	ENST00000291182.4	-	5	1400	c.1298G>A	c.(1297-1299)tGt>tAt	p.C433Y	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C433Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ACAATCCCCACATTTATATGG	0.418000													18	58					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069327	6069327	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:6069327G>T	ENST00000381095.3	-	2	808	c.181C>A	c.(181-183)Ccg>Acg	p.P61T	NLGN4X_ENST00000381092.1_Missense_Mutation_p.P61T|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P61T|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P61T|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P61T|NLGN4X_ENST00000469740.1_5'UTR	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	61					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TTGGGTAACGGTGTTCTTAGG	0.537000													7	92					2.0095e-06	2.3256e-06	1	1	0
JAK2	3717	broad.mit.edu	37	9	5080270	5080270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:5080270G>T	ENST00000381652.3	+	17	2667	c.2173G>T	c.(2173-2175)Gaa>Taa	p.E725*	AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000544510.1_Nonsense_Mutation_p.E576*|JAK2_ENST00000539801.1_Nonsense_Mutation_p.E725*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	725	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGAATGCATTGAAAATCCTAA	0.363000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				53	84					1.78197e-24	2.86785e-24	1	1	0
TSIX	9383	broad.mit.edu	37	X	73045778	73045778	+	RNA	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:73045778C>A	ENST00000604411.1	+	0	33739				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ATCTTTAAGCCTAGAGATGGG	0.428000													18	57					1.01871e-10	1.3539e-10	1	1	0
LANCL2	55915	broad.mit.edu	37	7	55468954	55468954	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:55468954C>T	ENST00000254770.2	+	5	1344	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	256					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CCAGTGGCACCGGAAGCAGTA	0.438000													16	101					0	0	1	0	0
FYN	2534	broad.mit.edu	37	6	112035607	112035607	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr6:112035607C>T	ENST00000354650.3	-	5	893	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	FYN_ENST00000368682.3_Missense_Mutation_p.R96Q|FYN_ENST00000229470.5_Missense_Mutation_p.R96Q|FYN_ENST00000356013.2_Missense_Mutation_p.R96Q|FYN_ENST00000368678.4_Missense_Mutation_p.R96Q|FYN_ENST00000368667.2_Missense_Mutation_p.R96Q|FYN_ENST00000538466.1_Missense_Mutation_p.R96Q|FYN_ENST00000229471.4_Missense_Mutation_p.R96Q	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	96	SH3.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	ATCTTCTGTCCGTGCTTCATA	0.403000													9	52					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269442	34269442	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:34269442C>A	ENST00000346562.2	+	11	1907	c.1833C>A	c.(1831-1833)gcC>gcA	p.A611A	NPAS3_ENST00000551492.1_Silent_p.A648A|NPAS3_ENST00000548645.1_Silent_p.A613A|NPAS3_ENST00000357798.5_Silent_p.A630A|NPAS3_ENST00000356141.4_Silent_p.A643A	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCAACAGTGCCTCGGTGCTCA	0.662000													33	34					2.04263e-09	2.61356e-09	1	1	0
FMR1	2332	broad.mit.edu	37	X	147027066	147027066	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:147027066A>T	ENST00000218200.8	+	15	1833	c.1604A>T	c.(1603-1605)cAc>cTc	p.H535L	FMR1_ENST00000370470.1_Missense_Mutation_p.H531L|FMR1_ENST00000440235.2_Missense_Mutation_p.H203L|FMR1_ENST00000370475.4_Missense_Mutation_p.H556L|FMR1_ENST00000370471.3_Missense_Mutation_p.T466S|FMR1_ENST00000439526.2_Missense_Mutation_p.H533L|FMR1_ENST00000370477.1_Missense_Mutation_p.H523L	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	556	Interaction with RANBP9.|RNA-binding RGG-box.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AACGACGATCACTCCCGAACA	0.398000									Fragile X syndrome				10	31					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6873574	6873574	+	Splice_Site	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr18:6873574G>T	ENST00000419673.2	+	7	860		c.e7+1		RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000532996.1_Splice_Site|ARHGAP28_ENST00000383472.4_Splice_Site|ARHGAP28_ENST00000418986.1_Splice_Site|ARHGAP28_ENST00000262227.3_Splice_Site|ARHGAP28_ENST00000531294.1_Splice_Site|ARHGAP28_ENST00000314319.3_Splice_Site|ARHGAP28_ENST00000400091.2_Splice_Site	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28						signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AAAGGACGAGGTAACTAAGAA	0.358000													8	55					0.00621372	0.00663226	1	1	0
GINM1	116254	broad.mit.edu	37	6	149893739	149893739	+	Splice_Site	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr6:149893739G>T	ENST00000367419.5	+	3	398	c.277_splice	c.e3+1	p.V93_splice		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		GACTTTGATAGGTGAGTATTA	0.353000													11	17					2.27111e-07	2.70433e-07	1	1	0
AKR1B10	57016	broad.mit.edu	37	7	134216666	134216666	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:134216666C>T	ENST00000359579.4	+	3	561	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	81					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GCAGTTGTGGCCCACTTTCTT	0.458000													12	54					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588368	153588368	+	Silent	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:153588368A>G	ENST00000422373.1	-	22	4043	c.3795T>C	c.(3793-3795)atT>atC	p.I1265I	FLNA_ENST00000344736.4_Silent_p.I1265I|FLNA_ENST00000360319.4_Silent_p.I1265I|FLNA_ENST00000369850.3_Silent_p.I1265I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1265					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGCCCTCAATACCAGGCC	0.642000													7	60					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149525062	149525062	+	RNA	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:149525062G>T	ENST00000378016.2	+	0	14973							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCACCTTGGGCGTCCCCACC	0.672000													5	34					2.7689e-08	3.4361e-08	1	1	0
CDH8	1006	broad.mit.edu	37	16	62055216	62055216	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:62055216G>A	ENST00000577390.1	-	2	1046	c.92C>T	c.(91-93)cCg>cTg	p.P31L	CDH8_ENST00000584337.1_Missense_Mutation_p.P31L|CDH8_ENST00000577730.1_Missense_Mutation_p.P31L|CDH8_ENST00000299345.6_Missense_Mutation_p.P31L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	31					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTGATTCATCGGAGCCATGTA	0.458000													5	45					0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147084782	147084782	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:147084782C>A	ENST00000370467.3	+	2	413	c.339C>A	c.(337-339)ggC>ggA	p.G113G		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	113						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCTCATGGCCAATCTCTGG	0.363000													25	75					2.48779e-11	3.37162e-11	1	1	0
MGAM	8972	broad.mit.edu	37	7	141803165	141803165	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:141803165C>T	ENST00000475668.2	+	70	8164	c.8110C>T	c.(8110-8112)Ccc>Tcc	p.P2704S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1808S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1808					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGCAGTGTCCCCGTTACCAG	0.453000													3	18					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713810	70713810	+	RNA	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:70713810C>A	ENST00000530196.1	-	0	708					NR_003951.1																						GAGTTCTCAGCCTCTTCAAAT	0.433000													14	60					1.15088e-07	1.37838e-07	1	1	0
ZNF821	55565	broad.mit.edu	37	16	71913844	71913844	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:71913844G>A	ENST00000425432.1	-	3	385	c.6C>T	c.(4-6)tcC>tcT	p.S2S	ZNF821_ENST00000564134.1_Silent_p.S2S|ZNF821_ENST00000565601.1_Silent_p.S2S|RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000313565.6_Silent_p.S2S|ZNF821_ENST00000446827.2_Silent_p.S2S|RP11-498D10.4_ENST00000568581.1_Intron	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						GTTTCCGACGGGACATGTTTC	0.448000													14	155					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108163369	108163369	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:108163369C>A	ENST00000278616.4	+	30	4845	c.4460C>A	c.(4459-4461)tCa>tAa	p.S1487*	ATM_ENST00000452508.2_Nonsense_Mutation_p.S1487*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1487					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATGGATGTGTCATTACGTAGC	0.363000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			44	100					1.66251e-12	2.34573e-12	1	1	0
ITGB4	3691	broad.mit.edu	37	17	73738716	73738716	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr17:73738716G>T	ENST00000200181.3	+	25	3023	c.2836G>T	c.(2836-2838)Gtg>Ttg	p.V946L	ITGB4_ENST00000450894.3_Missense_Mutation_p.V946L|ITGB4_ENST00000449880.2_Missense_Mutation_p.V946L|ITGB4_ENST00000339591.3_Missense_Mutation_p.V946L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.V946L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	946					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGACGTACGGGTGCCCCTCTT	0.687000													14	57					1.02788e-11	1.41163e-11	1	1	0
MMP7	4316	broad.mit.edu	37	11	102401431	102401431	+	Translation_Start_Site	SNP	T	T	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:102401431T>C	ENST00000260227.4	-	1	53	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	1					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		GTGAGTCGCATAGCTGCCGTC	0.547000													14	31					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71468534	71468534	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr4:71468534C>A	ENST00000322937.6	+	8	693	c.590C>A	c.(589-591)cCt>cAt	p.P197H	AMBN_ENST00000449493.2_Missense_Mutation_p.P182H	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	197					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ATGGATTTTCCTGATCCACAA	0.259000													10	25					0.000151284	0.000170298	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3228353	3228353	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:3228353G>T	ENST00000217939.6	-	7	8045	c.7891C>A	c.(7891-7893)Ctg>Atg	p.L2631M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2631						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCACCTTCAGGGAGACCAGC	0.622000													14	36					1.5739e-10	2.07835e-10	1	1	0
FNTA	2339	broad.mit.edu	37	8	42911657	42911657	+	Silent	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:42911657G>T	ENST00000302279.3	+	1	362	c.168G>T	c.(166-168)gtG>gtT	p.V56V	FNTA_ENST00000524546.1_3'UTR|RP11-598P20.5_ENST00000534420.1_Intron|FNTA_ENST00000342116.4_Silent_p.V56V	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	56					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ACGGGTTTGTGAGCCTGGACT	0.731000													3	7					0.115264	0.118722	1	1	0
ZNF560	147741	broad.mit.edu	37	19	9580363	9580363	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:9580363G>T	ENST00000301480.4	-	8	685	c.472C>A	c.(472-474)Ctg>Atg	p.L158M		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	158	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CAAGAGATCAGACTGGGTTTG	0.473000													11	26					1.5842e-08	1.97785e-08	1	1	0
ECE2	9718	broad.mit.edu	37	3	183995734	183995734	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:183995734G>T	ENST00000402825.3	+	5	854	c.854G>T	c.(853-855)aGc>aTc	p.S285I	ECE2_ENST00000404464.3_Missense_Mutation_p.S167I|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.S138I|ECE2_ENST00000357474.5_Missense_Mutation_p.S213I	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	285	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCAACTCCAGCAGTGAAGCT	0.557000													27	66					1.12875e-08	1.41782e-08	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105416061	105416061	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:105416061C>A	ENST00000333244.5	-	7	5846	c.5727G>T	c.(5725-5727)gtG>gtT	p.V1909V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1909						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGCATATCCACCTTGGGCA	0.617000													12	199					6.31663e-08	7.69956e-08	1	1	0
RASD2	23551	broad.mit.edu	37	22	35943106	35943106	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr22:35943106C>A	ENST00000216127.4	+	2	892	c.250C>A	c.(250-252)Cgc>Agc	p.R84S		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	84					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CCCCGCCATGCGCAGGCTGTC	0.637000													24	66					1.836e-18	2.82251e-18	1	1	0
CTBP1	1487	broad.mit.edu	37	4	1206184	1206184	+	Silent	SNP	G	G	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr4:1206184G>C	ENST00000382952.3	-	10	1518	c.1134C>G	c.(1132-1134)gcC>gcG	p.A378A	CTBP1_ENST00000290921.6_Silent_p.A389A	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	389					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TGCCAGTGGGGGCCACGCCCA	0.716000													5	7					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64587701	64587701	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:64587701C>G	ENST00000498707.1	-	26	4278	c.3936G>C	c.(3934-3936)gaG>gaC	p.E1312D	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E1284D	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1312					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GACGATAGTCCTCATTTTGGA	0.572000													44	69					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179085233	179085233	+	Nonsense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:179085233A>T	ENST00000471841.1	+	8	886	c.760A>T	c.(760-762)Aga>Tga	p.R254*	MFN1_ENST00000280653.7_Nonsense_Mutation_p.R254*|MFN1_ENST00000263969.5_Nonsense_Mutation_p.R254*	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	254					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GTAGGTACGCAGACAGCACAT	0.348000													5	40					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173883	126173883	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:126173883A>T	ENST00000339582.2	-	9	2361	c.1553T>A	c.(1552-1554)cTg>cAg	p.L518Q	GRM8_ENST00000358373.3_Missense_Mutation_p.L518Q|GRM8_ENST00000444921.2_Missense_Mutation_p.L518Q|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	518					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTTACACGGCAGGCTGCAGAC	0.522000										HNSCC(24;0.065)			13	93					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120758944	120758944	+	Splice_Site	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:120758944C>A	ENST00000378164.2	-	23	3407		c.e23+1			NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTGATTCTTACAGGGTTCTGA	0.388000													91	95					2.84844e-50	4.80965e-50	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40357618	40357618	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:40357618C>T	ENST00000221347.6	-	34	15702	c.15695G>A	c.(15694-15696)cGt>cAt	p.R5232H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5232						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACAGAGACCACGGGTGGCCCA	0.627000													3	63					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30601848	30601848	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:30601848C>A	ENST00000448418.2	-	2	433	c.73G>T	c.(73-75)Gca>Tca	p.A25S	MPPED2_ENST00000358117.5_Missense_Mutation_p.A25S	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	25					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TGCGTGAATGCCTGGGTGGGG	0.438000													28	72					2.12542e-12	2.97847e-12	1	1	0
TMTC2	160335	broad.mit.edu	37	12	83444707	83444707	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:83444707G>T	ENST00000549919.1	+	11	3964	c.2159G>T	c.(2158-2160)cGt>cTt	p.R720L	TMTC2_ENST00000321196.3_Missense_Mutation_p.R726L			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	726						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GAAGAAGCTCGTCTCATAGAA	0.383000													8	26					3.09899e-07	3.66891e-07	1	1	0
CLCA4	22802	broad.mit.edu	37	1	87031633	87031633	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:87031633C>T	ENST00000370563.3	+	6	926	c.884C>T	c.(883-885)cCt>cTt	p.P295L	CLCA4_ENST00000263723.5_Missense_Mutation_p.P8L	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	295						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CCTCCTCCACCTGTCTTCTCA	0.403000													19	46					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140803124	140803124	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr5:140803124G>T	ENST00000398587.2	+	1	2363	c.2330G>T	c.(2329-2331)gGg>gTg	p.G777V	PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACTATGGGGACACGCTC	0.517000													44	91					1.26584e-47	2.12002e-47	1	1	0
TMEM5	10329	broad.mit.edu	37	12	64202608	64202608	+	Silent	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:64202608G>T	ENST00000537373.1	+	6	1236	c.288G>T	c.(286-288)gtG>gtT	p.V96V	TMEM5_ENST00000261234.6_Silent_p.V356V	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	356						integral to plasma membrane		p.V356V(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TGGAAGACGTGATGACAGCTG	0.493000													26	77					2.85442e-18	4.3236e-18	1	1	0
AP1S1	1174	broad.mit.edu	37	7	100799899	100799899	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:100799899C>G	ENST00000337619.5	+	2	146	c.28C>G	c.(28-30)Cgg>Ggg	p.R10G		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	10					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					ATTATTCAGCCGGCAGGGAAA	0.527000													8	13					0	0	1	0	0
CRYBB2P1	1416	broad.mit.edu	37	22	25851689	25851689	+	RNA	SNP	T	T	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr22:25851689T>C	ENST00000354451.2	+	0	5																											CTGGGTGAGCTATGAACAGGC	0.577000													24	69					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080559	54080559	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:54080559G>A	ENST00000253144.9	+	7	2078	c.745G>A	c.(745-747)Ggg>Agg	p.G249R	ZNF331_ENST00000512387.1_Missense_Mutation_p.G249R|ZNF331_ENST00000511154.1_Missense_Mutation_p.G249R|ZNF331_ENST00000411977.2_Missense_Mutation_p.G249R|ZNF331_ENST00000513999.1_Missense_Mutation_p.G249R|ZNF331_ENST00000449416.1_Missense_Mutation_p.G249R|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511593.2_Missense_Mutation_p.G249R	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CAAAGACTGTGGGAAGACCTT	0.458000			T	?	follicular thyroid adenoma								25	56					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7476096	7476096	+	Splice_Site	SNP	T	T	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:7476096T>C	ENST00000399429.3	-	23	1932		c.e23-2			NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1						cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCTATCTCCCTGTACATTTCA	0.398000													23	38					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109365555	109365555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:109365555G>T	ENST00000283195.6	+	9	1369	c.1243G>T	c.(1243-1245)Gag>Tag	p.E415*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	415					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACGAGAACCAGAGCTTGAAGA	0.368000													5	234					1	1	1	1	0
ZNF585A	199704	broad.mit.edu	37	19	37646813	37646813	+	Silent	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:37646813C>T	ENST00000356958.4	-	4	504	c.246G>A	c.(244-246)aaG>aaA	p.K82K	ZNF585A_ENST00000355533.2_Silent_p.K27K|ZNF585A_ENST00000392157.2_Silent_p.K27K|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000292841.5_Silent_p.K27K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	82	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCATGGTTCCTTTCCTTGCT	0.527000													20	66					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129637037	129637037	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr6:129637037G>A	ENST00000421865.2	+	26	3915	c.3866G>A	c.(3865-3867)aGg>aAg	p.R1289K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1289	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTATCGTCAGGCATATGGCT	0.423000													21	49					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228005073	228005073	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:228005073C>T	ENST00000366757.3	+	3	499	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	159	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCTGAAGACCCGCATTGTGTT	0.567000													14	71					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798206	148798206	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:148798206G>T	ENST00000355220.5	+	5	1162	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*	MAGEA11_ENST00000333104.4_Nonsense_Mutation_p.E325*	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	354	MAGE.					cytoplasm|nucleus	protein binding	p.A77A(1)|p.E354K(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCTCTTTGGGGAGCCCAAGAG	0.542000													46	189					1.07234e-20	1.71243e-20	1	1	0
SQSTM1	8878	broad.mit.edu	37	5	179251243	179251243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr5:179251243G>A	ENST00000389805.4	+	4	771	c.593G>A	c.(592-594)tGg>tAg	p.W198*	SQSTM1_ENST00000402874.3_Nonsense_Mutation_p.W114*|SQSTM1_ENST00000376929.3_Nonsense_Mutation_p.W114*|SQSTM1_ENST00000360718.5_Nonsense_Mutation_p.W114*|SQSTM1_ENST00000510187.1_Nonsense_Mutation_p.W198*	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	198	Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCCAGGATGGGAAATGGGT	0.652000													11	48					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129637038	129637038	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr6:129637038G>T	ENST00000421865.2	+	26	3916	c.3867G>T	c.(3865-3867)agG>agT	p.R1289S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1289	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTATCGTCAGGCATATGGCTG	0.418000													20	50					5.35356e-11	7.16125e-11	1	1	0
C2CD2L	9854	broad.mit.edu	37	11	118984560	118984560	+	Splice_Site	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:118984560A>G	ENST00000336702.3	+	12	1848		c.e12-1		C2CD2L_ENST00000528586.1_Intron	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like							integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CTGCACCCCTAGCAGGGGACA	0.567000													20	60					0	0	1	0	0
MT-CYB	4519	broad.mit.edu	37	MT	15003	15003	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrM:15003G>A	ENST00000361789.2	+	1	257	c.257G>A	c.(256-258)gGc>gAc	p.86_86insD						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						TCACGCCAATGGCGCCTCAAT	0.473000													10	3					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113529289	113529289	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:113529289C>A	ENST00000297405.5	-	28	4974	c.4730G>T	c.(4729-4731)tGg>tTg	p.W1577L	CSMD3_ENST00000455883.2_Missense_Mutation_p.W1473L|CSMD3_ENST00000343508.3_Missense_Mutation_p.W1537L|CSMD3_ENST00000352409.3_Missense_Mutation_p.W1577L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1577	Sushi 8.					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						GCTGGGCTGCCAGAAGTACCG	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	142					0.000958276	0.00104447	1	1	0
PROSER1	80209	broad.mit.edu	37	13	39587831	39587831	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr13:39587831C>A	ENST00000352251.3	-	11	2391	c.1558G>T	c.(1558-1560)Gcc>Tcc	p.A520S	PROSER1_ENST00000350125.3_Missense_Mutation_p.A498S|PROSER1_ENST00000484434.2_Intron	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	520	Ser-rich.							p.A520P(1)									GCTGATGGGGCATAGCACTTG	0.552000													12	21					7.03913e-09	8.89607e-09	1	1	0
MC2R	4158	broad.mit.edu	37	18	13885199	13885199	+	Missense_Mutation	SNP	C	C	T	rs104894661		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr18:13885199C>T	ENST00000327606.3	-	2	499	c.319G>A	c.(319-321)Gac>Aac	p.D107N		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	107			D -> N (in GCCD1).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AACAGGGAGTCGATGATGTCA	0.498000													9	51					0	0	1	0	0
RANGRF	29098	broad.mit.edu	37	17	8193136	8193136	+	Nonstop_Mutation	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr17:8193136A>G	ENST00000580434.1	+	4	475	c.357A>G	c.(355-357)tgA>tgG	p.*119W	RANGRF_ENST00000439238.3_3'UTR|RANGRF_ENST00000226105.6_Missense_Mutation_p.D148G|SLC25A35_ENST00000580340.1_Intron|SLC25A35_ENST00000396278.1_Intron|RANGRF_ENST00000407006.4_3'UTR|SLC25A35_ENST00000380067.2_Intron|SLC25A35_ENST00000579192.1_Intron			Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	0					protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity			endometrium(1)	1						CCAAGCCCTGACAACAGGTCA	0.542000													11	58					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249076	20249076	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:20249076A>T	ENST00000315957.4	+	1	676	c.595A>T	c.(595-597)Atg>Ttg	p.M199L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAGTTAGTGATGATCTGTAG	0.478000													60	116					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77369751	77369751	+	Silent	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:77369751G>T	ENST00000282849.5	-	12	2179	c.1761C>A	c.(1759-1761)ccC>ccA	p.P587P		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	587					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGCCGTGGATGGGCCGGGGCC	0.577000													55	98					7.92265e-33	1.28509e-32	1	1	0
DLX1	1745	broad.mit.edu	37	2	172951500	172951500	+	Silent	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:172951500C>T	ENST00000361725.4	+	2	884	c.432C>T	c.(430-432)aaC>aaT	p.N144N	DLX1_ENST00000341900.6_Intron	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	144						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AGGCTTTGAACCGGAGGTTCC	0.572000													52	152					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969311	5969311	+	Nonsense_Mutation	SNP	T	T	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:5969311T>A	ENST00000329564.6	+	1	742	c.735T>A	c.(733-735)tgT>tgA	p.C245*		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGCACATGTGGCTCCCACT	0.517000													58	151					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923826	24923826	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr15:24923826G>T	ENST00000329468.2	+	1	3286	c.2812G>T	c.(2812-2814)Ggc>Tgc	p.G938C		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCCACTGAGTGGCAGCATAAT	0.488000													12	69					9.04627e-18	1.36024e-17	1	1	0
TLL2	7093	broad.mit.edu	37	10	98145954	98145954	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr10:98145954A>T	ENST00000357947.3	-	15	2096	c.1871T>A	c.(1870-1872)aTt>aAt	p.I624N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	624	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CAGCTTGGTAATGAAACCGCC	0.552000													24	86					0	0	1	0	0
COIL	8161	broad.mit.edu	37	17	55028031	55028031	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr17:55028031C>T	ENST00000240316.4	-	2	606	c.572G>A	c.(571-573)tGt>tAt	p.C191Y		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	191	Lys-rich (basic).					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTTATATTCACATTTCTCCTT	0.393000													34	50					0	0	1	0	0
C9orf91	203197	broad.mit.edu	37	9	117400932	117400932	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:117400932G>T	ENST00000374049.4	+	8	1215	c.778G>T	c.(778-780)Ggc>Tgc	p.G260C	C9orf91_ENST00000288502.4_Missense_Mutation_p.G259C	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	259						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						TCTCCTGCCCGGCAATTCTTG	0.577000													5	61					5.9392e-07	6.99129e-07	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55755437	55755437	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr10:55755437G>C	ENST00000373965.2	-	22	3255	c.2861C>G	c.(2860-2862)aCa>aGa	p.T954R	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.T947R|PCDH15_ENST00000395445.1_Missense_Mutation_p.T954R|PCDH15_ENST00000395433.1_Missense_Mutation_p.T925R|PCDH15_ENST00000414778.1_Missense_Mutation_p.T952R|PCDH15_ENST00000395432.2_Missense_Mutation_p.T910R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T947R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.T947R|PCDH15_ENST00000409834.1_Missense_Mutation_p.T558R|PCDH15_ENST00000395430.1_Missense_Mutation_p.T947R|PCDH15_ENST00000437009.1_Missense_Mutation_p.T876R|PCDH15_ENST00000320301.6_Missense_Mutation_p.T947R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	947	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCATAAACTGTTGTGATAGG	0.388000										HNSCC(58;0.16)			19	69					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116599521	116599521	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:116599521G>A	ENST00000395715.3	-	5	2984	c.2407C>T	c.(2407-2409)Cgc>Tgc	p.R803C	TRPS1_ENST00000519076.1_Missense_Mutation_p.R544C|TRPS1_ENST00000520276.1_Missense_Mutation_p.R794C|TRPS1_ENST00000220888.5_Missense_Mutation_p.R790C|TRPS1_ENST00000519674.1_Missense_Mutation_p.R790C	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	790	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTCACATTGCGAAGGTCATCA	0.567000									Langer-Giedion syndrome				56	588					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136596725	136596725	+	Silent	SNP	T	T	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr6:136596725T>C	ENST00000531224.1	-	6	2049	c.1797A>G	c.(1795-1797)aaA>aaG	p.K599K	BCLAF1_ENST00000527536.1_Silent_p.K599K|BCLAF1_ENST00000392348.2_Silent_p.K597K|BCLAF1_ENST00000527759.1_Silent_p.K597K|BCLAF1_ENST00000353331.4_Silent_p.K597K|BCLAF1_ENST00000530767.1_Silent_p.K426K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	599					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTGAAGTGCTTTTGCTGGCCT	0.393000													9	104					0	0	1	0	0
RARRES3	5920	broad.mit.edu	37	11	63312096	63312096	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:63312096A>G	ENST00000439013.2	+	3	175	c.122A>G	c.(121-123)gAg>gGg	p.E41G	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Missense_Mutation_p.E41G|RARRES3_ENST00000354445.2_Missense_Mutation_p.E41G			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	41					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						ATTGCAGGTGAGTACCCCGGG	0.547000													63	205					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175066576	175066576	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:175066576G>T	ENST00000239462.4	+	8	1725	c.1612G>T	c.(1612-1614)Gtg>Ttg	p.V538L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	538	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCAAACCTGGTGACTGACCG	0.502000													20	37					1.50039e-11	2.04689e-11	1	1	0
POLR3C	10623	broad.mit.edu	37	1	145608468	145608468	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:145608468G>A	ENST00000334163.3	-	3	499	c.339C>T	c.(337-339)aaC>aaT	p.N113N	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Silent_p.N113N	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	113					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCAGTTTGCCGTTCAACAGAA	0.468000													4	125					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2983872	2983872	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:2983872T>A	ENST00000396946.4	-	5	1061	c.658A>T	c.(658-660)Atg>Ttg	p.M220L	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	220					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGCTCCTCATGACCGCCATG	0.582000			Mis		DLBCL								8	40					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88679802	88679802	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr15:88679802C>A	ENST00000394480.1	-	8	982	c.661G>T	c.(661-663)Gta>Tta	p.V221L	NTRK3_ENST00000357724.2_Missense_Mutation_p.V221L|NTRK3_ENST00000542733.2_Missense_Mutation_p.V123L|NTRK3_ENST00000360948.2_Missense_Mutation_p.V221L|NTRK3_ENST00000557856.1_Missense_Mutation_p.V221L|NTRK3_ENST00000540489.2_Missense_Mutation_p.V221L|NTRK3_ENST00000317501.3_Missense_Mutation_p.V221L|NTRK3_ENST00000355254.2_Missense_Mutation_p.V221L|NTRK3_ENST00000558676.1_Missense_Mutation_p.V221L	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	221	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCCTCTCGTACGGTCAGGTTG	0.527000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			3	17					1	1	1	1	0
GPRASP1	9737	broad.mit.edu	37	X	101912229	101912229	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:101912229A>G	ENST00000537097.1	+	6	4201	c.3388A>G	c.(3388-3390)Agg>Ggg	p.R1130G	GPRASP1_ENST00000415986.1_Missense_Mutation_p.R1130G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.R1130G|GPRASP1_ENST00000361600.5_Missense_Mutation_p.R1130G	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1130	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGCATCTTAGGGCCAAGGA	0.433000													7	112					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129911758	129911758	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr10:129911758C>A	ENST00000368654.3	-	8	1964	c.1589G>T	c.(1588-1590)gGa>gTa	p.G530V	MKI67_ENST00000368653.3_Missense_Mutation_p.G170V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	530					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGGGCTTCTCCCCTTTTGAG	0.473000													36	76					1.04594e-18	1.62003e-18	1	1	0
AVPR2	554	broad.mit.edu	37	X	153172004	153172004	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:153172004T>A	ENST00000358927.2	+	4	1147	c.938T>A	c.(937-939)cTg>cAg	p.L313Q	AVPR2_ENST00000370049.1_3'UTR|AVPR2_ENST00000337474.5_Missense_Mutation_p.L313Q			P30518	V2R_HUMAN	arginine vasopressin receptor 2	313					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTCATGTTGCTGGCCAGCCTC	0.617000													58	244					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94482699	94482699	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr13:94482699C>A	ENST00000377047.4	+	3	1227	c.612C>A	c.(610-612)ccC>ccA	p.P204P	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	204						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GAGACGTGCCCCGGAAACTGA	0.512000													10	23					0.00621372	0.00663226	1	1	0
TRIML1	339976	broad.mit.edu	37	4	189061712	189061712	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr4:189061712C>T	ENST00000332517.3	+	2	579	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	147					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAATCTTTTGCGTGTAAGGAG	0.473000													8	51					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356845	42356845	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:42356845C>A	ENST00000554171.1	+	5	3449	c.1017C>A	c.(1015-1017)aaC>aaA	p.N339K	LRFN5_ENST00000554120.1_Missense_Mutation_p.N339K|LRFN5_ENST00000298119.4_Missense_Mutation_p.N339K			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	339	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGTATGATAACGGAACACTTG	0.448000										HNSCC(30;0.082)			47	72					4.02871e-13	5.80359e-13	1	1	0
U2SURP	23350	broad.mit.edu	37	3	142769829	142769829	+	Nonsense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:142769829A>T	ENST00000397933.2	+	24	2648	c.1366A>T	c.(1366-1368)Aaa>Taa	p.K456*	U2SURP_ENST00000473835.2_Nonsense_Mutation_p.K865*|U2SURP_ENST00000493598.2_Nonsense_Mutation_p.K864*			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	865					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAAAAGACCTAAAAAACCAGG	0.318000													5	17					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524042	24524042	+	Silent	SNP	G	G	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr20:24524042G>C	ENST00000376862.3	+	2	942	c.309G>C	c.(307-309)ggG>ggC	p.G103G		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	103					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCTCCTGGGGGGACGGTGTGG	0.632000													22	84					0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51590712	51590712	+	Splice_Site	SNP	T	T	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:51590712T>A	ENST00000389243.4	-	7	856		c.e7-2		POU6F1_ENST00000333640.10_Splice_Site|POU6F1_ENST00000550824.1_5'UTR			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1						brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						AGCACTGATCTGTGGGTGGAG	0.597000													4	19					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53619303	53619303	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:53619303A>T	ENST00000357758.3	-	1	697	c.514T>A	c.(514-516)Tac>Aac	p.Y172N	DDHD1_ENST00000323669.5_Missense_Mutation_p.Y172N|DDHD1_ENST00000395606.1_Missense_Mutation_p.Y172N	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	172					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCCTCCTTGTAGAACCAGCGT	0.677000													9	56					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391799	58391799	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:58391799G>C	ENST00000361987.4	+	2	487	c.407G>C	c.(406-408)cGc>cCc	p.R136P	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	136					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAGATCCCCCGCAATGAGGCT	0.483000													13	39					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39633315	39633315	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr17:39633315C>T	ENST00000246639.2	-	7	1403	c.1271G>A	c.(1270-1272)cGg>cAg	p.R424Q	KRT35_ENST00000393989.1_Missense_Mutation_p.R454Q			Q92764	KRT35_HUMAN	keratin 35	454	Tail.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CTCTCAGAACCGACCCCCTGG	0.602000													15	49					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185149536	185149536	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:185149536C>T	ENST00000367500.4	+	6	1145	c.980C>T	c.(979-981)cCa>cTa	p.P327L	SWT1_ENST00000367501.3_Missense_Mutation_p.P327L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	327										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TTTGAAGCACCATGTTGTTCC	0.328000													7	28					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8340408	8340408	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:8340408G>A	ENST00000381196.4	-	39	5731	c.5188C>T	c.(5188-5190)Cgg>Tgg	p.R1730W	PTPRD_ENST00000397606.3_Missense_Mutation_p.R1323W|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1708W|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1717W|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1730W|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1324W|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1320W|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1320W|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1323W|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1730W|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1323W	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1730	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CAGAGCATCCGCCAGAAGTCT	0.473000										TSP Lung(15;0.13)			5	33					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29543738	29543738	+	Silent	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:29543738A>T	ENST00000389048.3	-	7	2331	c.1425T>A	c.(1423-1425)ccT>ccA	p.P475P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	475					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AAAAACCCACAGGCAGTTTCC	0.502000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	74					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053374	133053374	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:133053374T>A	ENST00000262283.5	-	9	1061	c.962A>T	c.(961-963)gAg>gTg	p.E321V	OC90_ENST00000254627.3_Missense_Mutation_p.E125V|OC90_ENST00000443356.2_Missense_Mutation_p.E125V|OC90_ENST00000603859.1_Missense_Mutation_p.E125V			Q02509	OC90_HUMAN	otoconin 90	125	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGCGGCCTCCTCATAGCACCT	0.567000													89	89					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113507	55113507	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr6:55113507G>A	ENST00000370862.3	+	2	630	c.294G>A	c.(292-294)ctG>ctA	p.L98L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	98					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATCTTTCTCTGGCTGATGTGC	0.458000													41	133					0	0	1	0	0
EPN2	22905	broad.mit.edu	37	17	19186997	19186997	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr17:19186997G>T	ENST00000314728.5	+	3	1049	c.565G>T	c.(565-567)Gcc>Tcc	p.A189S	EPN2_ENST00000395618.3_Intron|EPN2_ENST00000395620.2_Missense_Mutation_p.A189S|EPN2_ENST00000395626.1_Missense_Mutation_p.A189S|EPN2_ENST00000571254.1_Missense_Mutation_p.A189S|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.A189S	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	189					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GTATGGCAAGGCCGGGGGCTC	0.627000													3	22					1.024e-07	1.24085e-07	1	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117960320	117960320	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:117960320G>T	ENST00000310164.2	+	4	1620	c.1113G>T	c.(1111-1113)gaG>gaT	p.E371D		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGGTTTTTGAGAATTTGATCA	0.498000													11	49					0.000673444	0.000737923	1	1	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													3	93					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154561033	154561033	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:154561033T>C	ENST00000368474.4	-	10	3078	c.2879A>G	c.(2878-2880)tAt>tGt	p.Y960C	ADAR_ENST00000368471.3_Missense_Mutation_p.Y665C|ADAR_ENST00000292205.5_Missense_Mutation_p.Y1003C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	960	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AGACCTGATATACAGATGGAA	0.448000													30	108					0	0	1	0	0
DPH5	51611	broad.mit.edu	37	1	101460684	101460684	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:101460684G>T	ENST00000370109.3	-	6	624	c.512C>A	c.(511-513)tCt>tAt	p.S171Y	DPH5_ENST00000488176.1_Missense_Mutation_p.S171Y|DPH5_ENST00000427040.2_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.S171Y|DPH5_ENST00000370105.3_5'UTR	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	171					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		ATTTTCCAAAGACTGCTCCTT	0.294000													5	19					0.00116845	0.00126684	1	1	0
SOWAHD	347454	broad.mit.edu	37	X	118893356	118893356	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:118893356C>A	ENST00000343905.3	+	1	781	c.726C>A	c.(724-726)gcC>gcA	p.A242A		NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN	sosondowah ankyrin repeat domain family member D	242																	TGTCGGGAGCCGAGGAATGGG	0.711000													3	5					1	1	1	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68282537	68282537	+	Silent	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:68282537C>T	ENST00000347230.4	-	2	282	c.144G>A	c.(142-144)aaG>aaA	p.K48K	ZFYVE26_ENST00000555452.1_Silent_p.K48K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	48					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTTCTACCCTCTTTGGGATAT	0.522000													4	135					0	0	1	0	0
CSTF1	1477	broad.mit.edu	37	20	54972262	54972262	+	Splice_Site	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr20:54972262G>T	ENST00000217109.4	+	3	521		c.e3-1		CSTF1_ENST00000493039.1_Splice_Site	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa						mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			ATTTCTTTCAGGAATGGAAAA	0.403000													18	43					3.51602e-12	4.89391e-12	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186106702	186106702	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:186106702G>A	ENST00000271588.4	+	88	13884	c.13655G>A	c.(13654-13656)aGg>aAg	p.R4552K	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4552K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4552	TSP type-1 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCCAAAAGAGGAGTCGTCTG	0.483000													6	34					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77298834	77298834	+	Missense_Mutation	SNP	T	T	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:77298834T>G	ENST00000341514.6	+	21	4180	c.4025T>G	c.(4024-4026)gTg>gGg	p.V1342G	ATP7A_ENST00000343533.5_Missense_Mutation_p.V1264G|ATP7A_ENST00000350425.4_Missense_Mutation_p.V345G	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1342					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTGGATGTAGTGGCAAGTATT	0.338000													7	110					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22631320	22631320	+	Missense_Mutation	SNP	T	T	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:22631320T>A	ENST00000333957.4	-	15	2084	c.1829A>T	c.(1828-1830)cAc>cTc	p.H610L	C2CD5_ENST00000545552.1_Missense_Mutation_p.H623L|C2CD5_ENST00000542676.1_Missense_Mutation_p.H610L|C2CD5_ENST00000544930.1_Missense_Mutation_p.H425L|C2CD5_ENST00000396028.2_Missense_Mutation_p.H601L|C2CD5_ENST00000536386.1_Missense_Mutation_p.H612L|C2CD5_ENST00000446597.1_Missense_Mutation_p.H610L	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		ATGAGAGATGTGTTGTTCATA	0.368000													8	23					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159493897	159493897	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr4:159493897C>A	ENST00000307765.5	+	2	348	c.97C>A	c.(97-99)Ccc>Acc	p.P33T	RXFP1_ENST00000423548.1_Missense_Mutation_p.P33T|RXFP1_ENST00000460056.2_5'UTR|RXFP1_ENST00000343542.5_Missense_Mutation_p.P33T|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000470033.1_Missense_Mutation_p.P33T	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	33	LDL-receptor class A.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGGCTATTTCCCCTGTGGGAA	0.517000													30	68					2.61193e-14	3.81601e-14	1	1	0
CPT1C	126129	broad.mit.edu	37	19	50208359	50208359	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:50208359G>T	ENST00000392518.4	+	9	1239	c.867G>T	c.(865-867)caG>caT	p.Q289H	CPT1C_ENST00000405931.2_Missense_Mutation_p.Q278H|CPT1C_ENST00000323446.5_Missense_Mutation_p.Q289H|CPT1C_ENST00000598293.1_Missense_Mutation_p.Q289H|CPT1C_ENST00000354199.5_Missense_Mutation_p.Q289H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	289					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TGAACCGCCAGGAGATACCCC	0.662000													17	55					1.78486e-19	2.78547e-19	1	1	0
RAB5B	5869	broad.mit.edu	37	12	56380786	56380786	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:56380786G>T	ENST00000360299.5	+	2	263	c.42G>T	c.(40-42)caG>caT	p.Q14H	RAB5B_ENST00000448789.2_Missense_Mutation_p.Q14H|RAB5B_ENST00000553116.1_Missense_Mutation_p.Q14H	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	14					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GGCAACCCCAGGCCAGCAAAA	0.522000													15	50					4.63292e-17	6.91581e-17	1	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	51					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276251	150276251	+	Missense_Mutation	SNP	A	A	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr5:150276251A>C	ENST00000446148.2	-	7	1025	c.598T>G	c.(598-600)Ttc>Gtc	p.F200V	ZNF300_ENST00000274599.5_Missense_Mutation_p.F184V|ZNF300_ENST00000418587.2_Missense_Mutation_p.F148V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.F184V	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TATTTATGGAATCTCTGTATT	0.328000													15	48					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106857254	106857254	+	Splice_Site	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:106857254A>G	ENST00000228347.4	+	23	2792		c.e23-1		POLR3B_ENST00000539066.1_Splice_Site	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B						innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TCTTAACACCAGCTACAAAGG	0.378000													13	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179667046	179667046	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:179667046G>A	ENST00000589042.1	-	3	338	c.114C>T	c.(112-114)agC>agT	p.S38S	TTN_ENST00000342992.6_Silent_p.S38S|TTN_ENST00000591111.1_Silent_p.S38S|TTN_ENST00000342175.6_Silent_p.S38S|TTN_ENST00000359218.5_Silent_p.S38S|TTN_ENST00000460472.2_Silent_p.S38S|TTN_ENST00000360870.5_Silent_p.S38S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	38	Ig-like 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTAAACCAGCTCACCTCAG	0.522000													4	11					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112889	248112889	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:248112889C>A	ENST00000357191.3	+	1	730	c.730C>A	c.(730-732)Ctc>Atc	p.L244I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAGCACCCACCTCACTGTAGT	0.458000													30	82					1.96642e-18	3.00061e-18	1	1	0
HTATSF1	27336	broad.mit.edu	37	X	135581829	135581829	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:135581829G>A	ENST00000535601.1	+	3	681	c.259G>A	c.(259-261)Gca>Aca	p.A87T	HTATSF1_ENST00000218364.4_Missense_Mutation_p.A87T	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	87					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TAGTTCTACCGCAAATGTTGA	0.458000													4	133					0	0	1	0	0
CSNK1D	1453	broad.mit.edu	37	17	80210968	80210968	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr17:80210968C>A	ENST00000314028.6	-	4	838	c.489G>T	c.(487-489)caG>caT	p.Q163H	CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Missense_Mutation_p.Q163H|CSNK1D_ENST00000392334.2_Missense_Mutation_p.Q163H	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	163	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			AGGGGATGTGCTGGTGGGTGC	0.602000													17	97					3.41278e-10	4.47792e-10	1	1	0
ACSF3	197322	broad.mit.edu	37	16	89178532	89178532	+	Silent	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:89178532G>T	ENST00000317447.4	+	5	1232	c.855G>T	c.(853-855)ccG>ccT	p.P285P	ACSF3_ENST00000406948.3_Silent_p.P285P|ACSF3_ENST00000378345.4_Silent_p.P20P	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	285					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CTGAAACGCCGCGGATCAATG	0.532000													49	114					2.24722e-20	3.56098e-20	1	1	0
ZNF716	441234	broad.mit.edu	37	7	57529215	57529215	+	Nonsense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:57529215A>T	ENST00000420713.1	+	4	1160	c.1048A>T	c.(1048-1050)Aaa>Taa	p.K350*		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TACTGGGGAGAAACTCTACAC	0.398000													4	19					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7759094	7759094	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:7759094C>A	ENST00000340209.4	+	12	1344	c.1047C>A	c.(1045-1047)caC>caA	p.H349Q	RBFOX1_ENST00000436368.2_Missense_Mutation_p.H365Q|RBFOX1_ENST00000535565.2_Missense_Mutation_p.T319K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.T405K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.H365Q|RBFOX1_ENST00000553186.1_Missense_Mutation_p.H317Q|RBFOX1_ENST00000552089.1_Missense_Mutation_p.T379K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.H344Q|RBFOX1_ENST00000355637.4_Missense_Mutation_p.T383K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.H344Q|RBFOX1_ENST00000422070.4_Missense_Mutation_p.H387Q			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	344					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCTACCACCACGCACTTGCTC	0.498000													17	78					0.000295444	0.000327212	1	1	0
DTD1	92675	broad.mit.edu	37	20	18608797	18608797	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr20:18608797G>T	ENST00000377452.3	+	4	577	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	133					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						CTACATGCAGGTGCACATTCA	0.502000													12	54					0.0202918	0.0212188	1	1	0
ATG16L1	55054	broad.mit.edu	37	2	234178672	234178672	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:234178672A>T	ENST00000392017.4	+	6	923	c.666A>T	c.(664-666)aaA>aaT	p.K222N	ATG16L1_ENST00000392020.4_Missense_Mutation_p.K222N|ATG16L1_ENST00000392018.1_Missense_Mutation_p.K222N|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000347464.5_Missense_Mutation_p.K78N|ATG16L1_ENST00000373525.5_Missense_Mutation_p.K78N	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	222					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GGCTGCAGAAAGAGCTTGCAG	0.428000													19	40					0	0	1	0	0
CAV2	858	broad.mit.edu	37	7	116146056	116146056	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:116146056A>T	ENST00000222693.4	+	3	762	c.370A>T	c.(370-372)Atg>Ttg	p.M124L	CAV2_ENST00000343213.2_Missense_Mutation_p.N61I|CAV2_ENST00000462876.1_3'UTR	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	124					caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			GACCTGCCTAATGGTTCTGCC	0.433000													10	44					0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41953070	41953070	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:41953070G>T	ENST00000301831.4	-	10	1440	c.978C>A	c.(976-978)caC>caA	p.H326Q	ULK4_ENST00000420927.1_Missense_Mutation_p.H326Q	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	326							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GACCACTCTTGTGCCCTTTTG	0.408000													5	34					3.59834e-05	4.1181e-05	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95513814	95513814	+	RNA	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:95513814C>T	ENST00000432432.2	-	0	797					NR_040113.1																						CCACACATGTCTTGAGCGAAG	0.353000													77	360					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652317	121652317	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:121652317A>T	ENST00000393386.2	+	12	3628	c.3217A>T	c.(3217-3219)Aac>Tac	p.N1073Y	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1073					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGTCATGCCCAACATGTATGA	0.393000													16	51					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814416	137814416	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:137814416C>A	ENST00000409968.1	+	3	744	c.566C>A	c.(565-567)tCc>tAc	p.S189Y	THSD7B_ENST00000413152.2_Missense_Mutation_p.S158Y|THSD7B_ENST00000543459.1_Missense_Mutation_p.S48Y|THSD7B_ENST00000272643.3_Missense_Mutation_p.S189Y					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTACCATGGTCCAACTGTAGC	0.488000													71	228					1.91593e-42	3.18292e-42	1	1	0
SFMBT2	57713	broad.mit.edu	37	10	7230597	7230597	+	Silent	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr10:7230597C>T	ENST00000361972.4	-	16	1887	c.1797G>A	c.(1795-1797)acG>acA	p.T599T	SFMBT2_ENST00000397167.1_Silent_p.T599T	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	599					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGGCCTTCAGCGTCTCTTCCT	0.443000													11	31					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033113	52033113	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:52033113G>T	ENST00000346477.3	-	4	897	c.829C>A	c.(829-831)Ctg>Atg	p.L277M	SIGLEC6_ENST00000436458.1_Missense_Mutation_p.L241M|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.L304M|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.L293M|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.L282M|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.L293M	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	293	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTGGCGTTCAGGGCGGGGAAG	0.642000													19	63					3.08376e-08	3.80392e-08	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53104090	53104090	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:53104090C>A	ENST00000408890.4	+	1	742	c.726C>A	c.(724-726)ccC>ccA	p.P242P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	242								p.P242P(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCTCGGCCCCTGGAGCCTCA	0.647000													8	34					0.307466	0.31201	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	29					0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37969597	37969597	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:37969597G>A	ENST00000357972.5	+	13	2004	c.1458G>A	c.(1456-1458)ctG>ctA	p.L486L	SYTL5_ENST00000456733.2_Silent_p.L508L|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Silent_p.L486L			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	486	C2 1.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ATACCCAGCTGGAAACAAGAA	0.453000													13	62					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30601847	30601847	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:30601847G>A	ENST00000448418.2	-	2	434	c.74C>T	c.(73-75)gCa>gTa	p.A25V	MPPED2_ENST00000358117.5_Missense_Mutation_p.A25V	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	25					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GTGCGTGAATGCCTGGGTGGG	0.433000													30	73					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28194031	28194031	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr22:28194031T>C	ENST00000302326.4	-	1	3455	c.2501A>G	c.(2500-2502)aAc>aGc	p.N834S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	834							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGCGATCATGTTCTGGCAAGC	0.617000			T	ETV6	"""AML, meningioma"""								34	82					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885446	88885446	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:88885446C>T	ENST00000319675.3	-	1	850	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	252										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGCGCAGATCAATGCCAAAG	0.507000													12	151					0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23619334	23619334	+	Missense_Mutation	SNP	T	T	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr18:23619334T>C	ENST00000415083.2	-	6	749	c.694A>G	c.(694-696)Atg>Gtg	p.M232V	SS18_ENST00000269137.7_Missense_Mutation_p.M232V|SS18_ENST00000545952.1_Missense_Mutation_p.M180V|SS18_ENST00000542743.1_Missense_Mutation_p.M180V|SS18_ENST00000542420.2_Missense_Mutation_p.M209V|SS18_ENST00000539849.1_Missense_Mutation_p.M150V	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	232	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					ATCATTCCCATAGGTGGCTGC	0.478000			T	"""SSX1,  SSX2"""	synovial sarcoma								40	110					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511164	61511164	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr20:61511164G>A	ENST00000266070.4	-	16	6469	c.6144C>T	c.(6142-6144)tcC>tcT	p.S2048S	DIDO1_ENST00000395343.1_Silent_p.S2048S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2048					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGAGAGCGCGGAGGGCGGCC	0.721000													19	43					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31474186	31474186	+	Missense_Mutation	SNP	C	C	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:31474186C>G	ENST00000457010.2	+	3	2019	c.1318C>G	c.(1318-1320)Cct>Gct	p.P440A	ARMC5_ENST00000538189.1_Missense_Mutation_p.P472A|ARMC5_ENST00000268314.4_Missense_Mutation_p.P440A|ARMC5_ENST00000408912.3_Missense_Mutation_p.P535A|ARMC5_ENST00000563544.1_Missense_Mutation_p.P440A|ARMC5_ENST00000412665.2_Missense_Mutation_p.P84A	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	440							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						CTGGGACTTTCCTGAGGAGAG	0.627000													3	14					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373318	126373318	+	Missense_Mutation	SNP	G	G	T	rs139635339		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr4:126373318G>T	ENST00000394329.3	+	9	11160	c.11147G>T	c.(11146-11148)cGt>cTt	p.R3716L	FAT4_ENST00000335110.5_Missense_Mutation_p.R2014L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3716					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCTTACTTCGTCTCGGCGTA	0.468000													29	81					1.06647e-15	1.58053e-15	1	1	0
PPL	5493	broad.mit.edu	37	16	4960865	4960865	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:4960865C>T	ENST00000345988.2	-	2	237	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	PPL_ENST00000590782.2_Missense_Mutation_p.A50T	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	50					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCATCTTGGCCTCTGTGTCC	0.592000													9	92					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118984562	118984562	+	Splice_Site	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:118984562C>T	ENST00000336702.3	+	12	1849	c.1489_splice	c.e12-1	p.P497_splice	C2CD2L_ENST00000528586.1_Intron	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	496						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GCACCCCTAGCAGGGGACAGC	0.572000													20	61					0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143079991	143079991	+	Missense_Mutation	SNP	G	G	T	rs150223874		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:143079991G>T	ENST00000322764.5	+	5	944	c.599G>T	c.(598-600)tGg>tTg	p.W200L	ZYX_ENST00000449423.2_Missense_Mutation_p.W113L|ZYX_ENST00000477373.1_3'UTR|ZYX_ENST00000392910.2_Missense_Mutation_p.W43L	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	200					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CTGCCTCCTTGGAAGTCCCCT	0.637000													11	64					0.00829132	0.00875903	1	1	0
CUBN	8029	broad.mit.edu	37	10	17087120	17087120	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr10:17087120G>T	ENST00000377833.4	-	25	3623	c.3558C>A	c.(3556-3558)taC>taA	p.Y1186*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1186	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGAGCTGTGGTAATAGGGCA	0.488000													16	49					6.49762e-13	9.29521e-13	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22207993	22207993	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:22207993C>T	ENST00000374695.3	-	14	1736	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	553	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTCACATTCACACCTGTGGGT	0.617000													33	94					0	0	1	0	0
SH2D1A	4068	broad.mit.edu	37	X	123480601	123480601	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:123480601G>T	ENST00000371139.4	+	1	408	c.109G>T	c.(109-111)Gtg>Ttg	p.V37L	STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000470647.1_3'UTR|SH2D1A_ENST00000360027.4_Missense_Mutation_p.V37L	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	37	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAGCGAGAGCGTGCCAGGCGT	0.602000													11	97					6.40141e-05	7.24555e-05	1	1	0
INPP5E	56623	broad.mit.edu	37	9	139327515	139327515	+	Missense_Mutation	SNP	G	G	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:139327515G>C	ENST00000371712.3	-	5	1574	c.1172C>G	c.(1171-1173)tCc>tGc	p.S391C		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	391						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGTCACCGTGGAGCACTCCAC	0.632000													17	33					0	0	1	0	0
TMEM120B	144404	broad.mit.edu	37	12	122190118	122190118	+	Silent	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:122190118C>T	ENST00000449592.2	+	5	551	c.450C>T	c.(448-450)gtC>gtT	p.V150V	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	150						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		GTCGATTTGTCCTTCACTACA	0.607000													18	77					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160241699	160241699	+	Missense_Mutation	SNP	A	A	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:160241699A>T	ENST00000392783.2	-	23	4148	c.3653T>A	c.(3652-3654)aTc>aAc	p.I1218N	BAZ2B_ENST00000392782.1_Missense_Mutation_p.I1182N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.I1184N|BAZ2B_ENST00000343439.5_Missense_Mutation_p.I1118N	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAGTTCATTGATCAGGAAAGC	0.438000													18	133					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263626	34263626	+	Silent	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:34263626C>T	ENST00000262622.3	+	4	1691	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CHST8_ENST00000438847.2_Silent_p.F311F|CHST8_ENST00000434302.1_Silent_p.F311F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	311					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TTCCCGAGTTCGTCCAGTACC	0.652000													5	47					0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6637975	6637975	+	Missense_Mutation	SNP	C	C	G	rs141920079		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:6637975C>G	ENST00000533371.1	-	6	872	c.74G>C	c.(73-75)cGg>cCg	p.R25P	TPP1_ENST00000299427.6_Missense_Mutation_p.R268P			O14773	TPP1_HUMAN	tripeptidyl peptidase I	268					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AATCCCGGCCCGGCCCCGGCC	0.577000													27	138					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183387015	183387015	+	Missense_Mutation	SNP	C	C	A	rs137961386	byFrequency	TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:183387015C>A	ENST00000435564.1	-	1	289	c.89G>T	c.(88-90)cGc>cTc	p.R30L	PDE1A_ENST00000410103.1_Missense_Mutation_p.R30L|PDE1A_ENST00000331935.6_Missense_Mutation_p.R30L|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000358139.2_Missense_Mutation_p.R30L|PDE1A_ENST00000456212.1_Missense_Mutation_p.R30L	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	30	Calmodulin-binding (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCCTTTCAGGCGCTGCCACAT	0.418000													7	34					0.000157383	0.000176201	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3238388	3238388	+	Silent	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:3238388G>A	ENST00000217939.6	-	5	5492	c.5338C>T	c.(5338-5340)Ctg>Ttg	p.L1780L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1780						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCAAAGTCCAGATGGAAGGTG	0.522000													11	33					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6496074	6496074	+	Missense_Mutation	SNP	C	C	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:6496074C>T	ENST00000264071.2	-	4	807	c.436G>A	c.(436-438)Gga>Aga	p.G146R	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Missense_Mutation_p.G146R|TUBB4A_ENST00000598006.1_3'UTR			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	146					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GTGCCCATTCCGGACCCCGTG	0.637000													8	59					0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81429038	81429038	+	Missense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr15:81429038G>A	ENST00000286732.4	+	3	424	c.341G>A	c.(340-342)aGc>aAc	p.S114N		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	114										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TGTGGCCTGAGCGCAGTTCAA	0.423000													6	52					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583375	10583375	+	Missense_Mutation	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:10583375C>A	ENST00000304501.1	-	2	1118	c.1040G>T	c.(1039-1041)gGg>gTg	p.G347V	SOX7_ENST00000553390.1_Missense_Mutation_p.G399V|SOX7_ENST00000554914.1_Missense_Mutation_p.G399V	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	347	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGCCATGGCCCCTGTGGCGGA	0.617000													6	45					0.217242	0.221544	1	1	0
ERN2	10595	broad.mit.edu	37	16	23718096	23718096	+	Missense_Mutation	SNP	G	G	T	rs143761786		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:23718096G>T	ENST00000256797.4	-	6	778	c.610C>A	c.(610-612)Cgc>Agc	p.R204S	ERN2_ENST00000457008.2_Missense_Mutation_p.R156S	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	156					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		ATGTAGAGGCGGGGGGTGGAG	0.607000													15	62					2.52088e-20	3.96413e-20	1	1	0
VRK2	7444	broad.mit.edu	37	2	58313494	58313494	+	Missense_Mutation	SNP	A	A	G			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:58313494A>G	ENST00000435505.2	+	8	1022	c.277A>G	c.(277-279)Aaa>Gaa	p.K93E	VRK2_ENST00000417641.2_Missense_Mutation_p.K93E|VRK2_ENST00000412104.2_Missense_Mutation_p.K93E|VRK2_ENST00000440705.2_Missense_Mutation_p.K70E|VRK2_ENST00000340157.4_Missense_Mutation_p.K93E			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	93	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GATAGAACGCAAACAACTTGA	0.274000													15	89					0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	102888823	102888823	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:102888823G>T	ENST00000262457.2	+	3	450	c.265G>T	c.(265-267)Gcc>Tcc	p.A89S	INVS_ENST00000374921.3_Missense_Mutation_p.A89S|INVS_ENST00000262456.2_Missense_Mutation_p.A89S|INVS_ENST00000460636.2_3'UTR|INVS_ENST00000541287.1_5'UTR	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	89					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CCATCTTGCAGCCCAGAAGGT	0.428000													17	45					7.45023e-12	1.03003e-11	1	1	0
TRAV3	28690	broad.mit.edu	37	14	22192122	22192122	+	RNA	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr14:22192122G>T	ENST00000390425.2	+	0	163																											CCCGCCGTGAGCTTAGCTGGA	0.577000													62	146					1.55545e-33	2.54303e-33	1	1	0
UROC1	131669	broad.mit.edu	37	3	126219611	126219611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr3:126219611G>A	ENST00000290868.2	-	11	1125	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	UROC1_ENST00000383579.3_Nonsense_Mutation_p.Q418*	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	358					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AAGCTGAGCTGCACAGGGTAG	0.602000													14	98					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31384586	31384586	+	Missense_Mutation	SNP	G	G	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr16:31384586G>T	ENST00000268296.4	+	20	2504	c.2383G>T	c.(2383-2385)Gtg>Ttg	p.V795L	ITGAX_ENST00000562522.1_Missense_Mutation_p.V795L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	795					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTCCCTGCTGGTGGGGAGTAA	0.542000													18	79					4.35082e-09	5.53252e-09	1	1	0
ACAN	176	broad.mit.edu	37	15	89382237	89382237	+	Silent	SNP	C	C	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr15:89382237C>A	ENST00000439576.2	+	3	788	c.414C>A	c.(412-414)ggC>ggA	p.G138G	ACAN_ENST00000558207.1_Silent_p.G138G|ACAN_ENST00000559004.1_Silent_p.G138G|ACAN_ENST00000352105.7_Silent_p.G138G|ACAN_ENST00000561243.1_Silent_p.G138G	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	138					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGATGCATGGCATCGAGGACA	0.607000													13	56					1.49906e-05	1.72517e-05	1	1	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329																											ATTTCGCCCTCCACCGCCGCCGC	0.631													5	6	---	---	---	---					
OR2M3	127062	broad.mit.edu	37	1	248366489	248366489	+	Frame_Shift_Del	DEL	G	G	-	rs143468114		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr1:248366489delG	ENST00000456743.1	+	1	158	c.120delG	c.(118-120)atfs	p.M40fs		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGCCTTCATGGGAAACTCTG	0.542													53	328	---	---	---	---					
LINC01115	339822	broad.mit.edu	37	2	856797	856798	+	RNA	DEL	CC	CC	-			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr2:856797_856798delCC	ENST00000414556.1	-	0	309					NR_033880.1																						tattcctcagccccccccttat	0.604													2	4	---	---	---	---					
ARL4A	10124	broad.mit.edu	37	7	12727948	12727976	+	Frame_Shift_Del	DEL	TGTTATTCTGGGTTTGGACTGTGCTGGAA	TGTTATTCTGGGTTTGGACTGTGCTGGAA	-	rs144595174	byFrequency	TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:12727948_12727976delTGTTATTCTGGGTTTGGACTGTGCTGGAA	ENST00000396663.1	+	2	551_579	c.69_97delTGTTATTCTGGGTTTGGACTGTGCTGGAA	c.(67-99)atagfs	p.IVILGLDCAGK23fs	ARL4A_ENST00000396664.2_Frame_Shift_Del_p.IVILGLDCAGK23fs|ARL4A_ENST00000356797.3_Frame_Shift_Del_p.IVILGLDCAGK23fs|ARL4A_ENST00000396662.1_Frame_Shift_Del_p.IVILGLDCAGK23fs|ARL4A_ENST00000404894.1_Frame_Shift_Del_p.IVILGLDCAGK23fs	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	23					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		CTTTCCACATTGTTATTCTGGGTTTGGACTGTGCTGGAAAGACAACTGT	0.406													7	83	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149515189	149515189	+	RNA	DEL	A	A	-	rs112122477		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr7:149515189delA	ENST00000378016.2	+	0	11577							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCTCGAGTAACTGCCCCAG	0.667													4	7	---	---	---	---					
FAM86B3P	286042	broad.mit.edu	37	8	8097122	8097123	+	RNA	INS	-	-	T	rs148799888		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr8:8097122_8097123insT	ENST00000523017.1	-	0	548																											TTCTGATAGAAttttttttttt	0.426													6	10	---	---	---	---					
DOCK8	81704	broad.mit.edu	37	9	420560	420561	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:420560_420561delTG	ENST00000432829.2	+	31	4112_4113	c.3796_3797delTG	c.(3796-3798)tfs	p.C1266fs	DOCK8_ENST00000453981.1_Frame_Shift_Del_p.C1334fs|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000382329.1_Frame_Shift_Del_p.C801fs|DOCK8_ENST00000469391.1_Frame_Shift_Del_p.C1234fs	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1334					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACTTTTCATCTGTGTGTTATGT	0.411													8	110	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18533290	18533290	+	Splice_Site	DEL	G	G	-			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:18533290delG	ENST00000380548.4	+	3	576	c.237_splice	c.e3+1	p.V79_splice	ADAMTSL1_ENST00000380566.4_Splice_Site_p.V79_splice|ADAMTSL1_ENST00000380570.4_Splice_Site_p.V79_splice|ADAMTSL1_ENST00000276935.6_Splice_Site_p.V79_splice|ADAMTSL1_ENST00000327883.7_Splice_Site_p.V79_splice|ADAMTSL1_ENST00000431052.2_Splice_Site_p.V79_splice	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	79	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCAGTAATGTGGTAAGTATAA	0.333													16	45	---	---	---	---					
ABO	28	broad.mit.edu	37	9	136131057	136131057	+	RNA	DEL	G	G	-	rs8176750		TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr9:136131057delG	ENST00000453660.2	-	0	1071							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	p.P353fs?(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGCCGCTCACGGGTTCCGGAC	0.662													7	1	---	---	---	---					
CNTF	1270	broad.mit.edu	37	11	58391793	58391794	+	Frame_Shift_Ins	INS	-	-	C			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:58391793_58391794insC	ENST00000361987.4	+	2	481_482	c.401_402insC	c.(400-402)accfs	p.T134fs	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	134					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GAATACAAGATCCCCCGCAATG	0.480													12	44	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108128207	108128208	+	Splice_Site	INS	-	-	T			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr11:108128207_108128208insT	ENST00000278616.4	+	15	2635_2636		c.e15-1		ATM_ENST00000452508.2_Splice_Site	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATTCACAATAGTCTCTAATGCA	0.297			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			7	41	---	---	---	---					
TBX3	6926	broad.mit.edu	37	12	115118942	115118942	+	Frame_Shift_Del	DEL	A	A	-			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr12:115118942delA	ENST00000349155.2	-	2	1362	c.399delT	c.(397-399)ttfs	p.F133fs	TBX3_ENST00000257566.3_Frame_Shift_Del_p.F133fs	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	133					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TAAATGGAGGAAACATTCGCC	0.328													14	101	---	---	---	---					
AATF	26574	broad.mit.edu	37	17	35378272	35378273	+	Frame_Shift_Ins	INS	-	-	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr17:35378272_35378273insA	ENST00000225402.5	+	10	1757_1758	c.1506_1507insA	c.(1504-1509)caaaaafs	p.QK502fs		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	502					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GCAAAATCCACAAAAAAGTAGA	0.361													15	20	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1207090	1207091	+	Frame_Shift_Ins	INS	-	-	A			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chr19:1207090_1207091insA	ENST00000326873.7	+	1	1351_1352	c.178_179insA	c.(178-180)cggfs	p.R60fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	60	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.G56fs*4(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGGCTCTTACGGCAAGGTG	0.629		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			18	27	---	---	---	---					
FOXO4	4303	broad.mit.edu	37	X	70320642	70320642	+	Frame_Shift_Del	DEL	G	G	-			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:70320642delG	ENST00000374259.3	+	2	894	c.562delG	c.(562-564)gcfs	p.G188fs	FOXO4_ENST00000341558.3_Frame_Shift_Del_p.G133fs	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	188					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AGGCAAGAGCGGCAAAgcccc	0.627											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	25	---	---	---	---					
SLITRK2	84631	broad.mit.edu	37	X	144904859	144904859	+	Frame_Shift_Del	DEL	A	A	-			TCGA-53-7813-01A-11D-2167-08	TCGA-53-7813-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fe51ad-3d21-42f5-9ccf-1f8c37560f1b	3d0cb74b-6f66-41bc-8af3-29e99f78ae29	g.chrX:144904859delA	ENST00000370490.1	+	1	5171	c.916delA	c.(916-918)aafs	p.K306fs	SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.K306fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.K306fs|SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.K306fs|SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.K306fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	306						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCGGCCGCCCAAAATGAGAAA	0.552													18	69	---	---	---	---					
