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
HDX	139324	broad.mit.edu	37	X	83723704	83723704	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chrX:83723704G>A	ENST00000297977.5	-	3	1138	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	HDX_ENST00000373177.2_Missense_Mutation_p.P343S|HDX_ENST00000506585.2_Missense_Mutation_p.P285S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	343						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P343S(1)|p.P343T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CCTGGTCCGGGCAAGGTTGTA	0.423000													3	47					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56127726	56127726	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr11:56127726G>A	ENST00000303039.3	+	1	36	c.4G>A	c.(4-6)Gct>Act	p.A2T		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A2T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CTCTGACATGGCTCCTGAAAA	0.428000													26	27					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74585457	74585457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr8:74585457C>A	ENST00000355780.5	-	5	417	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	STAU2_ENST00000521451.1_Intron|STAU2_ENST00000521727.1_Nonsense_Mutation_p.E79*|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000519961.1_Nonsense_Mutation_p.E99*|STAU2_ENST00000524300.1_Nonsense_Mutation_p.E99*|STAU2_ENST00000524104.1_Nonsense_Mutation_p.E67*|STAU2_ENST00000522695.1_Nonsense_Mutation_p.E67*|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521419.1_Nonsense_Mutation_p.E61*|STAU2_ENST00000521210.1_5'UTR|STAU2_ENST00000517542.1_Nonsense_Mutation_p.E61*|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000522509.1_Nonsense_Mutation_p.E67*	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	99	DRBM 1.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.E99*(1)|p.E67*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CCATTCAGTTCCACAGTTGGA	0.383000													46	16					8.00217e-19	1.22533e-18	1	1	0
KLHL4	56062	broad.mit.edu	37	X	86877364	86877364	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chrX:86877364A>T	ENST00000373119.4	+	5	1223	c.1078A>T	c.(1078-1080)Agg>Tgg	p.R360W	KLHL4_ENST00000373114.4_Missense_Mutation_p.R360W	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	360						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.R360W(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGTGCAGAATAGGCAAGGAGA	0.408000													40	14					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150739111	150739111	+	Missense_Mutation	SNP	G	G	A	rs144722322	byFrequency	TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:150739111G>A	ENST00000358849.4	+	14	1774	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N	ABCB8_ENST00000297504.6_Missense_Mutation_p.D578N|ABCB8_ENST00000542328.1_Missense_Mutation_p.D473N|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Missense_Mutation_p.D561N	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	578	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D561N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAAGCTTCCGATGAAGAGGT	0.577000													4	57					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244483	46244483	+	Silent	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr12:46244483C>A	ENST00000334344.6	+	15	2749	c.2577C>A	c.(2575-2577)tcC>tcA	p.S859S	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.S710S|ARID2_ENST00000444670.1_Silent_p.S469S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	859	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S859S(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTTCTGCATCCAATATTGTCT	0.453000			"""N, S, F"""		hepatocellular carcinoma								3	78					1	1	1	1	0
TRIL	9865	broad.mit.edu	37	7	28997377	28997377	+	RNA	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:28997377G>T	ENST00000322982.3	-	0	557				AC005013.5_ENST00000436594.1_lincRNA			Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										TGCAGAGAGCGGATCTGGTTG	0.632000													5	25					0.0215528	0.022117	1	1	0
ZNF559	84527	broad.mit.edu	37	19	9452452	9452452	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr19:9452452C>T	ENST00000393883.2	+	6	973	c.325C>T	c.(325-327)Cac>Tac	p.H109Y	ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000585352.1_3'UTR|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000587557.1_Missense_Mutation_p.H173Y|ZNF559_ENST00000603380.1_Missense_Mutation_p.H109Y|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.H29Y	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H109Y(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CCTTAAGACTCACAGGAGAAC	0.358000													29	20					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189906364	189906364	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr2:189906364C>G	ENST00000374866.3	-	50	3855	c.3581G>C	c.(3580-3582)gGg>gCg	p.G1194A		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1194					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G1194A(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCAATTGGCCCAAGTGGCCC	0.458000													35	27					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50555597	50555597	+	Translation_Start_Site	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr22:50555597G>A	ENST00000395843.1	+	0	1273				MOV10L1_ENST00000545383.1_Missense_Mutation_p.R424H|MOV10L1_ENST00000395858.3_Missense_Mutation_p.R424H|MOV10L1_ENST00000262794.5_Missense_Mutation_p.R424H|MOV10L1_ENST00000540615.1_Missense_Mutation_p.R404H			Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)						germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.R424H(1)|p.R404H(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AATCCTGGCCGCTGCAAGGAG	0.388000													59	40					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579138	82579138	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:82579138T>A	ENST00000423517.2	-	6	11103	c.10766A>T	c.(10765-10767)gAc>gTc	p.D3589V	PCLO_ENST00000437081.1_Missense_Mutation_p.D309V|PCLO_ENST00000333891.8_Missense_Mutation_p.D3589V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3520					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.D3589V(2)|p.D3520V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCGTTTCTTGTCTTTGGGTGG	0.483000													33	24					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9034680	9034680	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr3:9034680G>T	ENST00000383836.3	-	20	2895	c.2468C>A	c.(2467-2469)cCa>cAa	p.P823Q	SRGAP3_ENST00000360413.3_Missense_Mutation_p.P799Q	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	823					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.P823Q(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ATCCAGCAATGGCCCACTGCT	0.592000			T	RAF1	pilocytic astrocytoma								7	30					0.00198382	0.0020793	1	1	0
SEC24A	10802	broad.mit.edu	37	5	134056703	134056703	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr5:134056703G>C	ENST00000398844.2	+	21	3274	c.2986G>C	c.(2986-2988)Gtt>Ctt	p.V996L		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	996					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.V996L(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATGCTTTGGGTTGGAAAAAA	0.333000													7	46					0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4768321	4768321	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr12:4768321C>G	ENST00000266544.5	+	5	550	c.530C>G	c.(529-531)tCt>tGt	p.S177C		NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	177					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	p.S177C(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	ATTAAAAGCTCTTCTAGATAT	0.373000													9	35					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47345883	47345883	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr11:47345883A>T	ENST00000342922.4	+	29	4790	c.4433A>T	c.(4432-4434)aAa>aTa	p.K1478I	MADD_ENST00000402192.2_Missense_Mutation_p.K1477I|MADD_ENST00000395344.3_Missense_Mutation_p.K1431I|MADD_ENST00000402799.1_Missense_Mutation_p.K1435I|MADD_ENST00000311027.5_Missense_Mutation_p.K1537I|MADD_ENST00000406482.1_Missense_Mutation_p.K1435I|MADD_ENST00000407859.3_Missense_Mutation_p.K1455I|MADD_ENST00000405573.2_Missense_Mutation_p.K347I|MADD_ENST00000395336.3_Missense_Mutation_p.K1537I|MADD_ENST00000349238.3_Missense_Mutation_p.K1498I	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1537					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.K1537I(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAAAGCATCAAACCCGGTGAG	0.582000													4	22					0	0	1	0	0
EGLN2	112398	broad.mit.edu	37	19	41306994	41306994	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr19:41306994G>T	ENST00000593726.1	+	1	1545	c.517G>T	c.(517-519)Gcg>Tcg	p.A173S	EGLN2_ENST00000303961.4_Missense_Mutation_p.A173S|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.A173S			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	173					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	p.A173S(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GCTGCCCTCTGCGCCCGAGCG	0.667000													41	31					2.40579e-17	3.59951e-17	1	1	0
CDH13	1012	broad.mit.edu	37	16	83520147	83520147	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:83520147C>T	ENST00000566620.1	+	7	1137	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.R330W|CDH13_ENST00000428848.3_Missense_Mutation_p.R244W	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	283	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.R283W(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGCCCTCCTGCGGTATAATAT	0.527000													13	51					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17487843	17487843	+	Silent	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr19:17487843G>A	ENST00000252590.4	-	1	316	c.255C>T	c.(253-255)acC>acT	p.T85T		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	85						caveola|integral to membrane|perinuclear region of cytoplasm		p.T85T(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGAGCTCCTTGGTCAAGTTGG	0.622000													19	11					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55259441	55259441	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:55259441G>T	ENST00000275493.2	+	21	2676	c.2499G>T	c.(2497-2499)ttG>ttT	p.L833F	EGFR_ENST00000455089.1_Missense_Mutation_p.L788F|EGFR_ENST00000454757.2_Missense_Mutation_p.L780F|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	833	Protein kinase.		L -> V (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L833F(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACCGTCGCTTGGTGCACCGCG	0.547000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			17	49					1.5739e-10	2.05656e-10	1	1	0
FAT3	120114	broad.mit.edu	37	11	92086077	92086077	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr11:92086077C>A	ENST00000298047.6	+	1	816	c.799C>A	c.(799-801)Cat>Aat	p.H267N	FAT3_ENST00000541502.1_Missense_Mutation_p.H267N|FAT3_ENST00000525166.1_Missense_Mutation_p.H117N|FAT3_ENST00000409404.2_Missense_Mutation_p.H267N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	267	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.H267N(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCAACAATCCATGTAGTCAC	0.443000										TCGA Ovarian(4;0.039)			43	68					1.76056e-25	2.87558e-25	1	1	0
SDF4	51150	broad.mit.edu	37	1	1159282	1159282	+	Silent	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:1159282C>A	ENST00000263741.7	-	3	685	c.393G>T	c.(391-393)acG>acT	p.T131T	SDF4_ENST00000545427.1_Silent_p.T131T|SDF4_ENST00000360001.6_Silent_p.T131T	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	131	EF-hand 1.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	p.T131T(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		AGTGCTCGGCCGTCTTCTCCA	0.632000													11	19					6.40141e-05	7.00937e-05	1	1	0
SMARCAD1	56916	broad.mit.edu	37	4	95162158	95162158	+	Splice_Site	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr4:95162158G>T	ENST00000354268.4	+	6	778		c.e6+1		SMARCAD1_ENST00000457823.2_Splice_Site			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1						chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.?(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ACTGGATCATGTAAGTTTACA	0.333000													4	19					0.150653	0.152995	1	1	0
MAP3K11	4296	broad.mit.edu	37	11	65375749	65375749	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr11:65375749C>T	ENST00000309100.3	-	2	1395	c.910G>A	c.(910-912)Gac>Aac	p.D304N	MAP3K11_ENST00000530153.1_Missense_Mutation_p.D47N	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	304	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	p.D304N(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CTCCAGACGTCACTGCCCTTA	0.637000													7	31					0	0	1	0	0
PLSCR5	389158	broad.mit.edu	37	3	146311746	146311746	+	Silent	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr3:146311746C>T	ENST00000443512.1	-	4	1417	c.414G>A	c.(412-414)ttG>ttA	p.L138L	PLSCR5_ENST00000482567.1_Silent_p.L126L|PLSCR5_ENST00000492200.1_Silent_p.L138L	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	138								p.L138L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TGTTACATCTCAAGGGCCTGT	0.438000													15	49					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91356980	91356980	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr14:91356980T>C	ENST00000261991.3	-	14	1860	c.1687A>G	c.(1687-1689)Ata>Gta	p.I563V	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I484V	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	563	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.I563V(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AAATCAATTATTTTAATTTCC	0.408000													20	23					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67147734	67147734	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:67147734G>T	ENST00000371037.4	+	15	1074	c.997G>T	c.(997-999)Gtg>Ttg	p.V333L	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.V337L|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	333	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.V333L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAGGGAAAAAGTGGTGTCCCC	0.592000													48	108					7.88023e-25	1.25571e-24	1	1	0
OR2G6	391211	broad.mit.edu	37	1	248684959	248684959	+	Silent	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:248684959C>A	ENST00000343414.4	+	1	44	c.12C>A	c.(10-12)acC>acA	p.T4T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T4T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGAGGAAACCAACAACAGCT	0.398000													14	109					4.36969e-10	5.52554e-10	1	1	0
MLNR	2862	broad.mit.edu	37	13	49794774	49794774	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr13:49794774T>C	ENST00000398307.1	+	1	301	c.301T>C	c.(301-303)Tcg>Ccg	p.S101P	MLNR_ENST00000218721.1_Missense_Mutation_p.S101P			O43193	MTLR_HUMAN	motilin receptor	101					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	p.S101P(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CCTCTGGCGCTCGCGGCCCTG	0.682000													7	2					0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231774828	231774828	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr2:231774828C>A	ENST00000392040.1	-	2	1042	c.850G>T	c.(850-852)Gat>Tat	p.D284Y	GPR55_ENST00000392039.2_Missense_Mutation_p.D284Y	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	284					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	p.D284Y(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CAGAAAACATCCAGGCAGCAG	0.512000													54	38					2.69953e-25	4.3728e-25	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664639	22664639	+	RNA	SNP	G	G	A	rs9306349	by1000genomes	TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr22:22664639G>A	ENST00000426066.1	+	0	820					NR_027293.1																						CCAGCCTTCTGTAACCCAGTA	0.428000													3	33					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67003946	67003946	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr17:67003946C>T	ENST00000340001.4	-	25	3600	c.3389G>A	c.(3388-3390)cGc>cAc	p.R1130H	ABCA9_ENST00000370732.2_Missense_Mutation_p.R1130H|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Intron	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1130					transport	integral to membrane	ATP binding|ATPase activity	p.R1130H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCTCCCATTGCGAAAAATGAA	0.313000													12	36					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50667801	50667801	+	Splice_Site	SNP	T	T	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr14:50667801T>C	ENST00000216373.5	-	3	489	c.213_splice	c.e3-1	p.E72_splice	SOS2_ENST00000543680.1_Splice_Site_p.E72_splice	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	72					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.E72G(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTGAACTCGCTCCTGCTCAAT	0.358000													16	42					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17199412	17199412	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr21:17199412C>T	ENST00000285681.2	+	14	1952	c.1583C>T	c.(1582-1584)cCt>cTt	p.P528L	USP25_ENST00000285679.6_Missense_Mutation_p.P528L|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.P528L			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	528					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.P528L(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCCCGGATACCTCCAGATTTG	0.463000													20	36					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912915	77912915	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chrX:77912915C>A	ENST00000321110.1	-	2	1298	c.1003G>T	c.(1003-1005)Ggg>Tgg	p.G335W		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	335							nucleic acid binding|zinc ion binding	p.G335W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGACCCTCCCCTTGGCAGAGT	0.463000													18	6					2.35188e-11	3.13584e-11	1	1	0
SALL1	6299	broad.mit.edu	37	16	51175394	51175394	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:51175394T>A	ENST00000440970.1	-	2	879	c.448A>T	c.(448-450)Atc>Ttc	p.I150F	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.I247F|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	247	Poly-Ser.		Missing.|S -> SS.		adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I247F(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATCTGTTCGATCAATTGCAGC	0.537000													11	71					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48711844	48711844	+	Silent	SNP	C	C	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr8:48711844C>G	ENST00000314191.2	-	73	10277	c.10221G>C	c.(10219-10221)ggG>ggC	p.G3407G	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.G3407G	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3408	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.G3407G(1)|p.G3408G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CATCAATCACCCCAGCTGCAG	0.552000								Non-homologous end-joining					33	23					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	49					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84228380	84228380	+	Silent	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr9:84228380G>A	ENST00000376499.3	-	12	2039	c.975C>T	c.(973-975)gaC>gaT	p.D325D	TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376484.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	325	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	p.D325D(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCGTTGGCATGTCGCTCCGAG	0.537000													10	36					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25486758	25486758	+	RNA	SNP	T	T	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr15:25486758T>C	ENST00000453082.2	+	0	2077					NR_003343.1																						TGGGCCAGTGTCCATCAGCCA	0.597000													16	6					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	69364318	69364318	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:69364318C>T	ENST00000342771.4	+	2	677	c.356C>T	c.(355-357)aCg>aTg	p.T119M	AUTS2_ENST00000406775.2_Missense_Mutation_p.T119M|AUTS2_ENST00000403018.2_Missense_Mutation_p.T119M	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	119								p.T119M(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AAACGCCAGACGCCCCTGACC	0.478000													20	45					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96256587	96256587	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr4:96256587A>G	ENST00000453304.1	-	2	668	c.320T>C	c.(319-321)gTa>gCa	p.V107A	UNC5C_ENST00000504962.1_Missense_Mutation_p.V107A|UNC5C_ENST00000506749.1_Missense_Mutation_p.V107A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	107	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.V107A(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTTTCATCTACTATGTGGTC	0.418000													7	29					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124824817	124824817	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr8:124824817A>G	ENST00000334705.7	+	24	2636	c.2390A>G	c.(2389-2391)cAg>cGg	p.Q797R		NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	797								p.Q797R(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTGCTTTCACAGTCATCGTGT	0.383000													52	29					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118484728	118484728	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr5:118484728G>T	ENST00000311085.8	+	18	3286	c.3206G>T	c.(3205-3207)aGa>aTa	p.R1069I	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1069I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1069								p.R1069I(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTAATAGTAGATCTTCCCAG	0.398000													32	125					9.65021e-13	1.332e-12	1	1	0
PDE10A	10846	broad.mit.edu	37	6	165806181	165806181	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr6:165806181A>T	ENST00000366882.1	-	17	1734	c.1580T>A	c.(1579-1581)aTg>aAg	p.M527K	PDE10A_ENST00000539869.2_Missense_Mutation_p.M537K|PDE10A_ENST00000354448.4_Missense_Mutation_p.M527K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	527					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.M527K(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TATGGCATACATGCAGTGTGC	0.443000													8	29					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53272307	53272307	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:53272307A>G	ENST00000566029.1	+	12	2895	c.2686A>G	c.(2686-2688)Att>Gtt	p.I896V	CHD9_ENST00000398510.3_Missense_Mutation_p.I896V|CHD9_ENST00000447540.1_Missense_Mutation_p.I896V|CHD9_ENST00000564845.1_Missense_Mutation_p.I896V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	896	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.I896V(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TATTCAATCAATTACATTCCT	0.358000													17	58					0	0	1	0	0
PRKAB1	5564	broad.mit.edu	37	12	120106160	120106160	+	Silent	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr12:120106160G>A	ENST00000229328.5	+	1	603	c.111G>A	c.(109-111)ctG>ctA	p.L37L	PRKAB1_ENST00000541640.1_Silent_p.L37L	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	37					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		p.L37L(1)		endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	CCAAGATCCTGATGGACAGCC	0.647000													3	13					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059800	152059800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:152059800G>A	ENST00000368806.1	-	3	422	c.358C>T	c.(358-360)Cag>Tag	p.Q120*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	120							calcium ion binding	p.Q120*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTGTCCACTGACCATCTCCG	0.453000													18	107					0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158993	58158993	+	Splice_Site	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr12:58158993G>T	ENST00000228606.4	-	4	800	c.589_splice	c.e4-1	p.G197_splice	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	197					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	p.G197G(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CCGCGGCGATGCCTTGTCGGG	0.687000											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	22					5.9392e-07	6.8075e-07	1	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258612	25258612	+	Missense_Mutation	SNP	C	C	A	rs138595438	by1000genomes	TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:25258612C>A	ENST00000328086.7	-	5	1708	c.905G>T	c.(904-906)cGa>cTa	p.R302L		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	302					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R302L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GTAGTTGCTTCGTAGGATACT	0.468000													48	56					4.21674e-32	7.00407e-32	1	1	0
LMO7	4008	broad.mit.edu	37	13	76397902	76397902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr13:76397902C>T	ENST00000357063.3	+	16	4258	c.2998C>T	c.(2998-3000)Cag>Tag	p.Q1000*	LMO7_ENST00000465261.2_Nonsense_Mutation_p.Q715*|LMO7_ENST00000321797.8_Nonsense_Mutation_p.Q715*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.Q565*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.Q666*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.Q1000*			Q8WWI1	LMO7_HUMAN	LIM domain 7	1000						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.Q666*(1)|p.Q715*(1)|p.Q1000*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCCCAAGACCAGGCTGCCAC	0.478000													8	24					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22237269	22237269	+	Silent	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:22237269G>T	ENST00000263026.5	+	2	693	c.219G>T	c.(217-219)ggG>ggT	p.G73G		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	73					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	p.G73G(2)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GCTCCAGCGGGTCCCCGGCAA	0.532000													20	36					1.64113e-05	1.82763e-05	1	1	0
TNIK	23043	broad.mit.edu	37	3	170929013	170929013	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr3:170929013G>C	ENST00000436636.2	-	4	542	c.198C>G	c.(196-198)atC>atG	p.I66M	TNIK_ENST00000369326.5_Missense_Mutation_p.I66M|TNIK_ENST00000341852.6_Missense_Mutation_p.I66M|TNIK_ENST00000284483.8_Missense_Mutation_p.I66M|TNIK_ENST00000475336.1_Missense_Mutation_p.I66M|TNIK_ENST00000357327.5_Missense_Mutation_p.I66M|TNIK_ENST00000470834.1_Missense_Mutation_p.I66M|TNIK_ENST00000538048.1_Missense_Mutation_p.I66M|TNIK_ENST00000460047.1_Missense_Mutation_p.I66M|TNIK_ENST00000488470.1_Missense_Mutation_p.I66M	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	66	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.I66M(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTCTTGTTTGATTTCTTCCT	0.333000													9	48					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423368	107423368	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr2:107423368G>T	ENST00000409382.3	-	6	1966	c.1356C>A	c.(1354-1356)caC>caA	p.H452Q	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.H452Q	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	452					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.H452Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ATTCATACACGTGCACCTCTC	0.498000													14	5					0.000308642	0.000332384	1	1	0
ADNP	23394	broad.mit.edu	37	20	49510304	49510304	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr20:49510304G>A	ENST00000396029.3	-	5	1514	c.947C>T	c.(946-948)tCt>tTt	p.S316F	ADNP_ENST00000371602.4_Missense_Mutation_p.S316F|ADNP_ENST00000349014.3_Missense_Mutation_p.S316F|ADNP_ENST00000396032.3_Missense_Mutation_p.S316F	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	316						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S316F(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GACTCCTGTAGAATTTAAGTT	0.463000													5	79					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74585458	74585458	+	Silent	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr8:74585458C>A	ENST00000355780.5	-	5	416	c.198G>T	c.(196-198)gtG>gtT	p.V66V	STAU2_ENST00000521451.1_Intron|STAU2_ENST00000521727.1_Silent_p.V78V|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000519961.1_Silent_p.V98V|STAU2_ENST00000524300.1_Silent_p.V98V|STAU2_ENST00000524104.1_Silent_p.V66V|STAU2_ENST00000522695.1_Silent_p.V66V|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521419.1_Silent_p.V60V|STAU2_ENST00000521210.1_5'UTR|STAU2_ENST00000517542.1_Silent_p.V60V|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000522509.1_Silent_p.V66V	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	98	DRBM 1.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.E99*(1)|p.E67*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CATTCAGTTCCACAGTTGGAG	0.378000													46	16					4.01344e-20	6.24312e-20	1	1	0
BAI1	575	broad.mit.edu	37	8	143560728	143560728	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr8:143560728G>C	ENST00000517894.1	+	8	2500	c.1606G>C	c.(1606-1608)Gtc>Ctc	p.V536L	BAI1_ENST00000323289.5_Missense_Mutation_p.V536L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	536	TSP type-1 5.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.V536L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGTTGCAGCGTCACGTGTGG	0.692000													12	3					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													3	64					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15538748	15538748	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr21:15538748C>T	ENST00000344577.2	-	5	756	c.731G>A	c.(730-732)gGa>gAa	p.G244E	LIPI_ENST00000536861.1_Missense_Mutation_p.G223E	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	223					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.G244E(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATCTATATGTCCCAAGGGCTC	0.348000													39	51					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67686373	67686373	+	Splice_Site	SNP	A	A	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:67686373A>G	ENST00000334583.6	+	28	3145		c.e28-1		RLTPR_ENST00000545661.1_Splice_Site	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing									p.?(2)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCTCCCCACCAGGATGACAGT	0.572000													8	4					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229355	3229355	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chrX:3229355G>A	ENST00000217939.6	-	7	7043	c.6889C>T	c.(6889-6891)Cgc>Tgc	p.R2297C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2297	Ig-like C2-type 7.					extracellular region		p.R2297C(2)		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)				CGCTTGGTGCGTCCACCGCTG	0.557000													13	42					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169810738	169810738	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr5:169810738G>T	ENST00000274629.4	-	3	693	c.251C>A	c.(250-252)gCc>gAc	p.A84D	KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.A84D|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	84					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	p.A84D(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CCACCTGCCGGCAGCTGACAC	0.592000													7	29					0.248553	0.249827	1	1	0
OR4C11	219429	broad.mit.edu	37	11	55371129	55371129	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr11:55371129G>A	ENST00000302231.4	-	1	745	c.721C>T	c.(721-723)Cac>Tac	p.H241Y		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H241Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ACAATTATGTGAGACGTGCAA	0.403000													36	38					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26906151	26906151	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr5:26906151C>T	ENST00000231021.4	-	5	900	c.728G>A	c.(727-729)gGc>gAc	p.G243D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	243	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G243D(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCCCATCTGGCCACCCATGTC	0.453000													35	88					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56679786	56679786	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr17:56679786C>T	ENST00000389934.3	-	12	1619	c.1502G>A	c.(1501-1503)cGg>cAg	p.R501Q	TEX14_ENST00000349033.5_Missense_Mutation_p.R501Q|TEX14_ENST00000240361.8_Missense_Mutation_p.R507Q	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	507	Protein kinase.					cytoplasm	ATP binding|protein kinase activity	p.R507Q(1)|p.R501Q(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGAATATACCGGATATCTTG	0.408000													9	64					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724004	140724004	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr5:140724004C>A	ENST00000253812.6	+	1	404	c.404C>A	c.(403-405)aCa>aAa	p.T135K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.T135K(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTTCCCAACAGAGGAATTG	0.333000													8	22					0.000274275	0.000297005	1	1	0
SLC10A1	6554	broad.mit.edu	37	14	70245197	70245197	+	Missense_Mutation	SNP	A	A	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr14:70245197A>C	ENST00000216540.4	-	4	929	c.796T>G	c.(796-798)Tgt>Ggt	p.C266G		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	266					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.C266G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		ATGGTGGAACAGAGTTGGACA	0.512000													13	43					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40581051	40581051	+	Silent	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr15:40581051C>T	ENST00000260402.3	-	32	3672	c.3423G>A	c.(3421-3423)tcG>tcA	p.S1141S	PLCB2_ENST00000456256.2_Silent_p.S1126S|PLCB2_ENST00000557821.1_Silent_p.S1137S	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1141					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.S1137S(1)|p.S1141S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGGCCCTCACCGACTCCTTCA	0.642000													7	38					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649603	142649603	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:142649603G>T	ENST00000355265.2	-	10	1670	c.1196C>A	c.(1195-1197)cCa>cAa	p.P399Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	399					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.P399Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CACCATGGGTGGTTGCTCTGT	0.542000													21	53					4.59853e-10	5.77764e-10	1	1	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999135	112999135	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:112999135C>A	ENST00000271277.6	+	6	1246	c.1021C>A	c.(1021-1023)Cct>Act	p.P341T		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	341						actin cytoskeleton	protein binding	p.P341T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGCCACTCCTGCTTACTC	0.488000													32	89					6.70999e-13	9.32736e-13	1	1	0
NPY5R	4889	broad.mit.edu	37	4	164271827	164271827	+	Silent	SNP	A	A	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr4:164271827A>T	ENST00000515560.1	+	4	1924	c.402A>T	c.(400-402)tcA>tcT	p.S134S	NPY5R_ENST00000506953.1_Silent_p.S134S|NPY5R_ENST00000338566.3_Silent_p.S134S			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	134					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.S134S(1)|p.L130fs*9(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TTTTAATATCAATTGCCATTG	0.358000													38	103					0	0	1	0	0
TMOD1	7111	broad.mit.edu	37	9	100353718	100353718	+	Splice_Site	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr9:100353718G>T	ENST00000395211.2	+	9	1151		c.e9+1		TMOD1_ENST00000375175.1_Splice_Site|TMOD1_ENST00000259365.3_Splice_Site	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1						muscle filament sliding	cytosol	actin binding	p.?(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		AATGACCTTGGTGAGTAGAAA	0.502000													20	46					7.45023e-12	1.01406e-11	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	9916122	9916122	+	Splice_Site	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:9916122C>A	ENST00000396573.2	-	11	2476	c.2168_splice	c.e11+1	p.G723_splice	GRIN2A_ENST00000535259.1_Splice_Site_p.G566_splice|GRIN2A_ENST00000562109.1_Splice_Site_p.G723_splice|GRIN2A_ENST00000330684.3_Splice_Site_p.G723_splice|GRIN2A_ENST00000396575.2_Splice_Site_p.G723_splice|GRIN2A_ENST00000404927.2_Splice_Site_p.G723_splice	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	723					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.G723W(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CATCCTTACCCCGTTTTCAGG	0.463000													49	61					1.95508e-11	2.62462e-11	1	1	0
EGFR	1956	broad.mit.edu	37	7	55259524	55259524	+	Missense_Mutation	SNP	T	T	A	rs121913444		TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:55259524T>A	ENST00000275493.2	+	21	2759	c.2582T>A	c.(2581-2583)cTg>cAg	p.L861Q	EGFR_ENST00000455089.1_Missense_Mutation_p.L816Q|EGFR_ENST00000454757.2_Missense_Mutation_p.L808Q|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	861	Protein kinase.		L -> Q (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L861Q(53)|p.L861R(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTGGCCAAACTGCTGGGTGCG	0.557000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			16	54					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35712916	35712916	+	Silent	SNP	C	C	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr9:35712916C>G	ENST00000314888.9	-	27	3830	c.3477G>C	c.(3475-3477)ctG>ctC	p.L1159L	TLN1_ENST00000540444.1_Silent_p.L1159L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1159					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.L1159L(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCCTTGTCCAGCACATCAC	0.617000													4	4					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845485	62845485	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr4:62845485C>A	ENST00000512091.1	+	17	3553	c.2806C>A	c.(2806-2808)Caa>Aaa	p.Q936K	LPHN3_ENST00000507625.1_Missense_Mutation_p.Q1004K|LPHN3_ENST00000514591.1_Missense_Mutation_p.Q936K|LPHN3_ENST00000508946.1_Missense_Mutation_p.Q936K|LPHN3_ENST00000504896.1_Missense_Mutation_p.Q936K|LPHN3_ENST00000514157.1_Missense_Mutation_p.Q936K|LPHN3_ENST00000508693.1_Missense_Mutation_p.Q1004K|LPHN3_ENST00000511324.1_Missense_Mutation_p.Q1004K|LPHN3_ENST00000506720.1_Missense_Mutation_p.Q1004K|LPHN3_ENST00000506746.1_Missense_Mutation_p.Q1004K|LPHN3_ENST00000509896.1_Missense_Mutation_p.Q1004K|LPHN3_ENST00000507164.1_Missense_Mutation_p.Q1004K|LPHN3_ENST00000545650.1_Missense_Mutation_p.Q936K|LPHN3_ENST00000506700.1_Missense_Mutation_p.Q936K|LPHN3_ENST00000514996.1_Missense_Mutation_p.Q936K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	923					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.Q936K(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCGAACTGACCAACCAGTAAG	0.443000													14	75					9.31168e-06	1.0489e-05	1	1	0
C10orf137	26098	broad.mit.edu	37	10	127426555	127426555	+	Silent	SNP	A	A	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr10:127426555A>T	ENST00000337623.3	+	13	1830	c.1725A>T	c.(1723-1725)ctA>ctT	p.L575L	C10orf137_ENST00000356792.4_Silent_p.L609L	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.L575L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCTATGTTCTAGAGGTAAGTT	0.338000													37	32					0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429084	23429084	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr8:23429084G>T	ENST00000519973.1	+	4	931	c.733G>T	c.(733-735)Ggg>Tgg	p.G245W		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	245					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		p.G245W(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CGGGCTGGCCGGGGCCCTCGC	0.652000													6	8					1.06961e-07	1.26292e-07	1	1	0
SALL1	6299	broad.mit.edu	37	16	51174200	51174200	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:51174200G>A	ENST00000440970.1	-	2	2073	c.1642C>T	c.(1642-1644)Cca>Tca	p.P548S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P645S|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	645					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P645S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTGCCGCTGGGGAGCTCAGG	0.627000													10	44					0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46633812	46633812	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:46633812A>T	ENST00000303383.3	-	9	1542	c.1276T>A	c.(1276-1278)Tgc>Agc	p.C426S		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	426								p.C426S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GCACCAGTGCAGTCCACAAAA	0.408000													14	30					0	0	1	0	0
VHLL	391104	broad.mit.edu	37	1	156268936	156268936	+	Silent	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:156268936C>A	ENST00000339922.3	-	1	492	c.45G>T	c.(43-45)gcG>gcT	p.A15A		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	15					protein ubiquitination	nucleus		p.A15A(1)		endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCTGGGTGCCCGCCTGGGCCT	0.617000													15	102					4.14922e-12	5.68704e-12	1	1	0
PTPRK	5796	broad.mit.edu	37	6	128319937	128319937	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr6:128319937C>A	ENST00000368227.3	-	17	3009	c.2643G>T	c.(2641-2643)agG>agT	p.R881S	PTPRK_ENST00000368215.3_Missense_Mutation_p.R868S|PTPRK_ENST00000368207.3_Missense_Mutation_p.R895S|PTPRK_ENST00000368210.3_Missense_Mutation_p.R881S|PTPRK_ENST00000368213.5_Missense_Mutation_p.R869S|PTPRK_ENST00000368226.4_Missense_Mutation_p.R869S|PTPRK_ENST00000532331.1_Missense_Mutation_p.R885S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	868					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R869>?(1)|p.R869S(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AATCAGCTACCCTGATGGCTG	0.473000													27	20					2.65835e-16	3.91756e-16	1	1	0
CXorf36	79742	broad.mit.edu	37	X	45051168	45051168	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chrX:45051168C>A	ENST00000398000.2	-	2	400	c.326G>T	c.(325-327)cGc>cTc	p.R109L	RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.R109L|CXorf36_ENST00000477281.1_5'UTR|RP11-342D14.1_ENST00000438181.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	109						extracellular region		p.R109L(2)		endometrium(1)|large_intestine(2)|lung(4)	7						CTCCACAGGGCGCCAGATTTT	0.488000													22	11					3.62473e-10	4.6133e-10	1	1	0
C19orf55	148137	broad.mit.edu	37	19	36253234	36253234	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr19:36253234G>C	ENST00000544099.1	+	5	583	c.520G>C	c.(520-522)Gct>Cct	p.A174P	C19orf55_ENST00000421853.2_Missense_Mutation_p.A74P|C19orf55_ENST00000537459.1_Missense_Mutation_p.A174P|C19orf55_ENST00000536950.1_Missense_Mutation_p.A173P|C19orf55_ENST00000396908.4_Missense_Mutation_p.A174P			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	174								p.A174P(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCATGCTGTGGCTCCCCTTCA	0.547000													4	1					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220307776	220307776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:220307776G>T	ENST00000366922.1	+	15	1985	c.1654G>T	c.(1654-1656)Gga>Tga	p.G552*	IARS2_ENST00000302637.5_Nonsense_Mutation_p.G624*			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	624					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	p.G624*(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GTACTTGGAAGGAAAAGACCA	0.353000													27	29					7.38237e-10	9.15787e-10	1	1	0
USH2A	7399	broad.mit.edu	37	1	215813937	215813937	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:215813937C>A	ENST00000366943.2	-	68	15317	c.14931G>T	c.(14929-14931)ttG>ttT	p.L4977F	USH2A_ENST00000307340.3_Missense_Mutation_p.L4977F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4977	Fibronectin type-III 35.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.L4977F(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGTGGTGTCCAAGCCGCTGT	0.552000										HNSCC(13;0.011)			20	21					6.32553e-13	8.85574e-13	1	1	0
LRRC66	339977	broad.mit.edu	37	4	52861716	52861716	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr4:52861716C>A	ENST00000343457.3	-	4	1478	c.1472G>T	c.(1471-1473)tGc>tTc	p.C491F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	491						integral to membrane		p.C491F(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTTGTCCCCGCACTGTCCTGG	0.552000													19	62					3.32936e-07	3.88425e-07	1	1	0
ZP4	57829	broad.mit.edu	37	1	238048740	238048740	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:238048740G>T	ENST00000366570.4	-	8	1269	c.1111C>A	c.(1111-1113)Ccc>Acc	p.P371T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	371	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.P371T(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCAGTGCTGGGTGTTGCCCAA	0.537000													42	31					9.9998e-32	1.64703e-31	1	1	0
UTP20	27340	broad.mit.edu	37	12	101757487	101757487	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr12:101757487A>G	ENST00000261637.4	+	45	6098	c.5924A>G	c.(5923-5925)gAt>gGt	p.D1975G		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1975					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.D1975G(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTAGGAAAAGATCAGGTTACA	0.398000													20	21					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7866983	7866983	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr5:7866983G>C	ENST00000264669.5	-	2	1350	c.1214C>G	c.(1213-1215)cCt>cGt	p.P405R	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	405					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.P405R(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AATCTGACGAGGTGAAAATTT	0.403000													20	57					0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2958508	2958508	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr4:2958508G>C	ENST00000416614.2	-	3	426	c.361C>G	c.(361-363)Cta>Gta	p.L121V	NOP14_ENST00000398071.4_Missense_Mutation_p.L121V|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.L121V|NOP14_ENST00000502735.1_Missense_Mutation_p.L121V			P78316	NOP14_HUMAN	NOP14 nucleolar protein	121					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	p.L121V(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCTTCATTTAGATTGTAGATG	0.378000													9	53					0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29855757	29855757	+	Silent	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr17:29855757C>A	ENST00000325874.8	+	13	1843	c.1614C>A	c.(1612-1614)cgC>cgA	p.R538R	RAB11FIP4_ENST00000394744.2_Silent_p.R436R	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	538	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.R538R(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CCAGGGCCCGCGAGGTGGAGC	0.667000													8	7					0.000157383	0.000171373	1	1	0
PDGFRL	5157	broad.mit.edu	37	8	17434764	17434764	+	Translation_Start_Site	SNP	G	G	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr8:17434764G>C	ENST00000541323.1	+	2	448	c.3G>C	c.(1-3)atG>atC	p.M1I	PDGFRL_ENST00000251630.6_Start_Codon_SNP_p.M1I|PDGFRL_ENST00000398074.3_Start_Codon_SNP_p.M1I	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	1						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	p.M1I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		TTCCCGAGATGAAGGTCTGGC	0.711000											OREG0018579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	9					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167798572	167798572	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:167798572T>C	ENST00000367848.1	-	26	3904	c.3407A>G	c.(3406-3408)aAg>aGg	p.K1136R	ADCY10_ENST00000545172.1_Missense_Mutation_p.K1075R|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.K1228R			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1228					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.K1228R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GGCATAATACTTGCAGTGAAA	0.423000													20	67					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99465655	99465655	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr15:99465655C>A	ENST00000268035.6	+	11	3091	c.2480C>A	c.(2479-2481)cCc>cAc	p.P827H	IGF1R_ENST00000558762.1_Missense_Mutation_p.P827H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	827					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.P827H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AGGACTATGCCCGCAGGTATG	0.552000													26	22					4.22769e-11	5.59884e-11	1	1	0
OR2A14	135941	broad.mit.edu	37	7	143826473	143826473	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:143826473A>G	ENST00000408899.2	+	1	323	c.268A>G	c.(268-270)Acc>Gcc	p.T90A		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T90A(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCAGGAAAGCACCATCTCCTT	0.438000													54	202					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261168	1261168	+	Splice_Site	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:1261168G>T	ENST00000348261.5	+	22	4472	c.4223_splice	c.e22-1	p.R1408_splice	CACNA1H_ENST00000358590.4_Splice_Site_p.R1408_splice|CACNA1H_ENST00000565831.1_Splice_Site_p.R1408_splice	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1408					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.R1408S(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCCCCTCCAGGGTCATCAGCC	0.627000													16	38					0.00152264	0.00161318	1	1	0
TP53	7157	broad.mit.edu	37	17	7578264	7578264	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr17:7578264G>C	ENST00000420246.2	-	6	717	c.585C>G	c.(583-585)atC>atG	p.I195M	TP53_ENST00000413465.2_Missense_Mutation_p.I195M|TP53_ENST00000359597.4_Missense_Mutation_p.I195M|TP53_ENST00000269305.4_Missense_Mutation_p.I195M|TP53_ENST00000455263.2_Missense_Mutation_p.I195M|TP53_ENST00000445888.2_Missense_Mutation_p.I195M|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.R196*(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.I195M(3)|p.P191_E198>Q(3)|p.I195fs*14(2)|p.I195fs*50(1)|p.H193_I195>AP(1)|p.I63M(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I102M(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195fs*12(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTCCACTCGGATAAGATGCT	0.547000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	12					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43258594	43258594	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr19:43258594C>A	ENST00000404209.4	-	5	1230	c.1134G>T	c.(1132-1134)aaG>aaT	p.K378N	PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.K256N|PSG8_ENST00000401467.2_Missense_Mutation_p.K285N|PSG8_ENST00000306511.4_Missense_Mutation_p.K378N	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	378	Ig-like C2-type 3.					extracellular region		p.K378N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGATAAAGAGCTTTTGTCCTG	0.463000													46	171					4.18559e-23	6.61593e-23	1	1	0
TP53BP2	7159	broad.mit.edu	37	1	223990466	223990466	+	Silent	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:223990466C>T	ENST00000391878.2	-	9	1344	c.576G>A	c.(574-576)aaG>aaA	p.K192K	TP53BP2_ENST00000343537.7_Silent_p.K321K	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	315					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	p.K192K(1)|p.K321K(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GAGCTGCCTTCTTCTTCCACA	0.468000													42	274					0	0	1	0	0
FAM45B	55855	broad.mit.edu	37	X	129629590	129629590	+	RNA	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chrX:129629590C>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA														p.A153D(1)									GCCCGAAAGGCCTACCCGGCT	0.413000													37	20					6.97489e-18	1.05975e-17	1	1	0
MYLK3	91807	broad.mit.edu	37	16	46781866	46781866	+	Silent	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:46781866C>A	ENST00000394809.4	-	1	355	c.240G>T	c.(238-240)ggG>ggT	p.G80G	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	80					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.G80G(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGTGGGGAACCCCATCAGCCC	0.711000													7	23					0.00198382	0.0020793	1	1	0
POU2AF1	5450	broad.mit.edu	37	11	111225164	111225164	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr11:111225164G>T	ENST00000393067.3	-	5	1107	c.593C>A	c.(592-594)cCa>cAa	p.P198Q		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	198					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.P198Q(1)		breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		AGGTAGGGCTGGGGCCGGAGG	0.642000			T	BCL6	NHL								14	37					4.3838e-07	5.08417e-07	1	1	0
PDK3	5165	broad.mit.edu	37	X	24537108	24537108	+	Silent	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chrX:24537108G>T	ENST00000441463.2	+	6	654	c.654G>T	c.(652-654)ctG>ctT	p.L218L	PDK3_ENST00000379162.4_Silent_p.L218L	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	218	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.L218L(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CTCCAGAGCTGGAAGTTGAAG	0.358000													32	9					4.3181e-19	6.66415e-19	1	1	0
URB2	9816	broad.mit.edu	37	1	229781606	229781606	+	Splice_Site	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:229781606G>T	ENST00000258243.2	+	6	3932	c.3795_splice	c.e6-1	p.A1266_splice		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1266						nucleolus		p.A1266S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTTGCCCCAGGCTGTTGTGTC	0.547000													91	111					1.55023e-36	2.61936e-36	1	1	0
TYK2	7297	broad.mit.edu	37	19	10469871	10469871	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr19:10469871C>A	ENST00000525621.1	-	15	2636	c.2155G>T	c.(2155-2157)Gcc>Tcc	p.A719S	TYK2_ENST00000264818.6_Missense_Mutation_p.A719S|TYK2_ENST00000524462.1_Missense_Mutation_p.A534S|TYK2_ENST00000529370.1_Missense_Mutation_p.A719S	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	719	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.A719S(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGGGCGCTGGCCAGCTGCTGG	0.677000													7	4					0.0381472	0.038942	1	1	0
CYB5R4	51167	broad.mit.edu	37	6	84603269	84603269	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr6:84603269G>T	ENST00000369681.4	+	3	398	c.258G>T	c.(256-258)atG>atT	p.M86I	CYB5R4_ENST00000369679.4_Missense_Mutation_p.M52I	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	86	Cytochrome b5 heme-binding.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	p.M86I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GCCCTTATATGGAGTATCATC	0.338000													36	29					9.62906e-15	1.398e-14	1	1	0
TP53	7157	broad.mit.edu	37	17	7577535	7577535	+	Missense_Mutation	SNP	C	C	A	rs67185453		TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr17:7577535C>A	ENST00000420246.2	-	7	878	c.746G>T	c.(745-747)aGg>aTg	p.R249M	TP53_ENST00000413465.2_Missense_Mutation_p.R249M|TP53_ENST00000359597.4_Missense_Mutation_p.R249M|TP53_ENST00000269305.4_Missense_Mutation_p.R249M|TP53_ENST00000455263.2_Missense_Mutation_p.R249M|TP53_ENST00000445888.2_Missense_Mutation_p.R249M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249M(38)|p.R249K(20)|p.R249T(16)|p.0?(8)|p.?(5)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGATGGGCCTCCGGTTCAT	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	9					6.40141e-05	7.00937e-05	1	1	0
TECPR2	9895	broad.mit.edu	37	14	102906821	102906821	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr14:102906821G>T	ENST00000359520.7	+	11	2853	c.2627G>T	c.(2626-2628)tGt>tTt	p.C876F	TECPR2_ENST00000558678.1_Missense_Mutation_p.C876F	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	876							protein binding	p.C876F(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCTTTTGCTTGTGGGAAAGTC	0.478000													19	69					1.15919e-05	1.29829e-05	1	1	0
CTDSPL2	51496	broad.mit.edu	37	15	44789291	44789291	+	Silent	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr15:44789291G>T	ENST00000260327.4	+	7	1400	c.837G>T	c.(835-837)ccG>ccT	p.P279P	CTDSPL2_ENST00000558966.1_Silent_p.P279P|CTDSPL2_ENST00000558373.1_Silent_p.P207P|CTDSPL2_ENST00000561189.1_3'UTR|CTDSPL2_ENST00000396780.1_Silent_p.P207P	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	279							phosphoprotein phosphatase activity	p.P279P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		CTGCTCTTCCGTTGAAAACAA	0.343000													21	20					1.96895e-08	2.38218e-08	1	1	0
CHD5	26038	broad.mit.edu	37	1	6194240	6194240	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:6194240T>A	ENST00000262450.3	-	20	3191	c.3092A>T	c.(3091-3093)aAg>aTg	p.K1031M	CHD5_ENST00000378021.1_De_novo_Start_InFrame	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1031	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.K1031M(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTTCAGCATCTTCTGTAGCAG	0.622000													23	47					0	0	1	0	0
CASP2	835	broad.mit.edu	37	7	143001797	143001797	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:143001797G>T	ENST00000310447.5	+	10	1389	c.1148G>T	c.(1147-1149)gGt>gTt	p.G383V	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	383					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	p.G383V(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					ACCAAACGAGGTTCCTGGTAC	0.547000													58	71					2.89935e-36	4.85704e-36	1	1	0
SOWAHB	345079	broad.mit.edu	37	4	77817883	77817883	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr4:77817883C>A	ENST00000334306.2	-	1	1119	c.1120G>T	c.(1120-1122)Gcg>Tcg	p.A374S		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	374								p.A374S(1)									GGGTTCCCCGCCCAGGATTCC	0.562000													14	60					7.93312e-07	9.04007e-07	1	1	0
NEURL3	93082	broad.mit.edu	37	2	97166170	97166170	+	RNA	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr2:97166170C>A	ENST00000310865.3	-	0	752									neuralized E3 ubiquitin protein ligase 3																		CCCATGGTCGCCTCACCCAGC	0.662000													13	2					3.27435e-08	3.93726e-08	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181706779	181706779	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:181706779G>C	ENST00000526775.1	+	22	3649	c.3484G>C	c.(3484-3486)Gag>Cag	p.E1162Q	CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1113Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1162Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1132Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E788Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1181Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1181Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1181					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E1181Q(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GACCAACTCGGAGCGCAACAA	0.597000													45	65					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525370	248525370	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:248525370G>A	ENST00000366475.1	+	1	488	c.488G>A	c.(487-489)cGt>cAt	p.R163H		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R163H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCCTCTCCGTTACCCTGTC	0.527000													116	154					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98129870	98129870	+	Silent	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr10:98129870G>A	ENST00000357947.3	-	20	3090	c.2865C>T	c.(2863-2865)gaC>gaT	p.D955D		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	955	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D955D(1)		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)		TGTCGTAGCCGTCGTAGGCTT	0.637000													21	16					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27805334	27805334	+	Silent	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr2:27805334C>A	ENST00000408964.2	+	1	5946	c.5895C>A	c.(5893-5895)ctC>ctA	p.L1965L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1965								p.L1965L(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAACTCTCCTCGGGACCACAC	0.507000													41	32					1.34996e-11	1.82478e-11	1	1	0
ARHGAP12	94134	broad.mit.edu	37	10	32098161	32098161	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr10:32098161G>A	ENST00000375250.5	-	15	2276	c.2035C>T	c.(2035-2037)Cat>Tat	p.H679Y	ARHGAP12_ENST00000344936.2_Missense_Mutation_p.H709Y|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.H704Y|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.H657Y|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.H657Y	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	709	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.H709Y(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				ATCTTACCATGATTGACTGCA	0.333000													12	40					0	0	1	0	0
XCL2	6846	broad.mit.edu	37	1	168510283	168510283	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:168510283C>A	ENST00000367819.2	-	3	284	c.252G>T	c.(250-252)atG>atT	p.M84I		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	84					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.M84I(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					ATTTCCTGTCCATGCTCCTGA	0.488000													25	27					7.26314e-15	1.06237e-14	1	1	0
ANKHD1	54882	broad.mit.edu	37	5	139907856	139907856	+	Silent	SNP	T	T	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr5:139907856T>A	ENST00000297183.6	+	29	5449	c.5325T>A	c.(5323-5325)ccT>ccA	p.P1775P	ANKHD1_ENST00000544120.1_Silent_p.P158P|ANKHD1_ENST00000360839.2_Silent_p.P1775P|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.P1775P	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1									p.P1775P(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGATTCCTAAAAATCATA	0.403000													3	78					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17280755	17280755	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:17280755C>G	ENST00000375541.5	+	22	3293	c.3224C>G	c.(3223-3225)tCa>tGa	p.S1075*	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1075					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.S1075*(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACGGCGCTGTCAGAGAAGTTG	0.632000													13	97					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149482801	149482801	+	RNA	SNP	G	G	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:149482801G>C	ENST00000378016.2	+	0	3217							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)			CGTGCGTCTGGAGGGCACTGT	0.622000													5	6					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97839179	97839179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:97839179C>A	ENST00000370192.3	-	16	2096	c.1996G>T	c.(1996-1998)Gag>Tag	p.E666*		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	666	Uracil binding (Potential).				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.E666*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AAATTTAACTCCAGGGCATCT	0.428000													10	33					1.08611e-07	1.27471e-07	1	1	0
ATP10B	23120	broad.mit.edu	37	5	160034041	160034041	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr5:160034041C>T	ENST00000327245.5	-	19	3737	c.2891G>A	c.(2890-2892)cGt>cAt	p.R964H		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	964					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R964H(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGTAGTTCACGAAATTGCTT	0.438000													16	60					0	0	1	0	0
ATP5SL	55101	broad.mit.edu	37	19	41944255	41944255	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr19:41944255G>A	ENST00000221943.9	-	2	88	c.83C>T	c.(82-84)gCa>gTa	p.A28V	ATP5SL_ENST00000301183.11_Missense_Mutation_p.A34V|ATP5SL_ENST00000590641.2_Missense_Mutation_p.A34V|ATP5SL_ENST00000589970.1_Missense_Mutation_p.A28V|ATP5SL_ENST00000597457.1_Missense_Mutation_p.A28V|ATP5SL_ENST00000438807.3_Missense_Mutation_p.A28V|ATP5SL_ENST00000417807.3_Missense_Mutation_p.A34V|ATP5SL_ENST00000595425.1_Missense_Mutation_p.A28V|ATP5SL_ENST00000592922.2_Missense_Mutation_p.A28V	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	28								p.A28V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TGGGGCCACTGCCGCACCCAG	0.582000													15	33					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49510018	49510018	+	Silent	SNP	G	G	A	rs146061441		TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr20:49510018G>A	ENST00000396029.3	-	5	1800	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	ADNP_ENST00000371602.4_Silent_p.S411S|ADNP_ENST00000349014.3_Silent_p.S411S|ADNP_ENST00000396032.3_Silent_p.S411S	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	411						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S411S(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ACTGAGAGAGGGAAGGAGACT	0.552000													9	102					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775338	24775338	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr8:24775338C>T	ENST00000221166.5	+	3	2752	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L	NEFM_ENST00000437366.2_Intron|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.P281L|NEFM_ENST00000518131.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	657	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton	p.P657L(1)|p.P657Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCTCCTGTGCCGAAATCACCA	0.507000													20	15					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2138643	2138643	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr19:2138643G>A	ENST00000355272.6	-	2	373	c.167C>T	c.(166-168)gCg>gTg	p.A56V	AP3D1_ENST00000356926.4_Missense_Mutation_p.A56V|AP3D1_ENST00000345016.5_Missense_Mutation_p.A56V|AP3D1_ENST00000350812.6_Missense_Mutation_p.A56V	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	56					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	p.A56V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCGCGTTCGCCTTCACCGC	0.517000													23	47					0	0	1	0	0
POLR3H	171568	broad.mit.edu	37	22	41936719	41936719	+	Silent	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr22:41936719G>A	ENST00000355209.4	-	2	535	c.192C>T	c.(190-192)ggC>ggT	p.G64G	POLR3H_ENST00000337566.5_Silent_p.G64G|POLR3H_ENST00000407461.1_Silent_p.G64G|POLR3H_ENST00000420561.1_Intron|POLR3H_ENST00000396504.2_Silent_p.G64G	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	64					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.G64G(2)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TGTGTGATGCGCCATCCCCAG	0.502000													3	58					0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115273024	115273024	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:115273024C>A	ENST00000438362.2	-	12	1727	c.1349G>T	c.(1348-1350)aGa>aTa	p.R450I	CSDE1_ENST00000534699.1_Missense_Mutation_p.R404I|CSDE1_ENST00000530886.1_Missense_Mutation_p.R274I|CSDE1_ENST00000261443.5_Missense_Mutation_p.R373I|CSDE1_ENST00000369530.1_Missense_Mutation_p.R419I|CSDE1_ENST00000358528.4_Missense_Mutation_p.R404I|CSDE1_ENST00000339438.6_Missense_Mutation_p.R373I	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	404	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	p.R404I(2)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCATGATTTCTTTGAGCAGA	0.363000													12	40					0.000978159	0.00104765	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7708677	7708677	+	Silent	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr17:7708677C>T	ENST00000572933.1	+	61	10868	c.9408C>T	c.(9406-9408)aaC>aaT	p.N3136N	DNAH2_ENST00000389173.2_Silent_p.N3136N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3136	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.N3136N(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCGAGGCAACGAGCCCACAT	0.498000													10	34					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245861603	245861603	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:245861603C>T	ENST00000366518.4	+	10	4981	c.4877C>T	c.(4876-4878)gCc>gTc	p.A1626V	KIF26B_ENST00000407071.2_Missense_Mutation_p.A2007V			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2007					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A2007V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGAGGGGGTGCCAGCAAGGTG	0.642000													14	14					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974040	49974040	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr11:49974040G>T	ENST00000555099.1	+	1	98	c.66G>T	c.(64-66)caG>caT	p.Q22H		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q22H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CAAAAATGCAGAAAATCATAT	0.383000													22	111					3.83957e-06	4.35003e-06	1	1	0
KRTAP5-6	440023	broad.mit.edu	37	11	1718520	1718520	+	Silent	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr11:1718520G>T	ENST00000382160.1	+	1	96	c.45G>T	c.(43-45)ggG>ggT	p.G15G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	15						keratin filament		p.G15G(1)		endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCGGCTGTGGGGGCTGTGGCT	0.652000													33	120					6.50621e-10	8.1224e-10	1	1	0
SERPINB5	5268	broad.mit.edu	37	18	61160254	61160254	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr18:61160254G>A	ENST00000382771.4	+	5	785	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	SERPINB5_ENST00000464346.1_3'UTR|SERPINB5_ENST00000489441.1_Missense_Mutation_p.A165T	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	165					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	p.A165T(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GGTTAATGCTGCCTACTTTGT	0.408000													32	53					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629408	9629408	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr5:9629408A>T	ENST00000382492.2	-	1	1055	c.737T>A	c.(736-738)tTt>tAt	p.F246Y	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	246					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.F246Y(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGAAGAGAGAAAAACTTTTAT	0.458000													32	37					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173150	51173150	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:51173150G>A	ENST00000440970.1	-	2	3123	c.2692C>T	c.(2692-2694)Cgg>Tgg	p.R898W	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R995W|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	995					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R995W(2)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AATTTACCCCGGTCTCTAAAA	0.433000													9	47					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19408000	19408000	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr19:19408000T>G	ENST00000247001.5	-	8	1388	c.1041A>C	c.(1039-1041)ttA>ttC	p.L347F	SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	347	Pro-rich.				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TGGCTGGGGGTAAGGACCCTG	0.672000													6	39					0	0	1	0	0
DPF1	8193	broad.mit.edu	37	19	38709662	38709662	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr19:38709662G>T	ENST00000416611.1	-	4	461	c.338C>A	c.(337-339)cCg>cAg	p.P113Q	DPF1_ENST00000456296.1_Missense_Mutation_p.P113Q|DPF1_ENST00000355526.4_Missense_Mutation_p.P139Q|DPF1_ENST00000420980.2_Missense_Mutation_p.P139Q|DPF1_ENST00000414789.1_Missense_Mutation_p.P57Q|DPF1_ENST00000412732.1_Missense_Mutation_p.P57Q			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	139					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	p.P112Q(1)|p.P139Q(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGCCCTTCCGGGAGGCCACC	0.607000													54	57					2.82306e-37	4.81148e-37	1	1	0
STARD8	9754	broad.mit.edu	37	X	67937333	67937333	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chrX:67937333C>A	ENST00000252336.6	+	5	709	c.337C>A	c.(337-339)Cag>Aag	p.Q113K	STARD8_ENST00000374599.3_Missense_Mutation_p.Q193K|STARD8_ENST00000374597.3_Missense_Mutation_p.Q113K	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	113					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.Q113K(2)|p.Q193K(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CACCCAGGGCCAGGAGGGTCC	0.632000													32	5					4.65686e-17	6.91474e-17	1	1	0
LDB3	11155	broad.mit.edu	37	10	88476273	88476273	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr10:88476273C>A	ENST00000429277.2	+	10	1581	c.1436C>A	c.(1435-1437)tCg>tAg	p.S479*	LDB3_ENST00000458213.2_Nonsense_Mutation_p.S364*|LDB3_ENST00000361373.4_Nonsense_Mutation_p.S474*|LDB3_ENST00000352360.5_Nonsense_Mutation_p.S217*|LDB3_ENST00000263066.6_Nonsense_Mutation_p.S364*	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	474						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	p.S479*(1)|p.S474*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCTGCACCCTCGGTGGCCTAC	0.657000													46	25					2.24722e-20	3.52364e-20	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20618729	20618729	+	Silent	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr4:20618729C>T	ENST00000504154.1	+	35	4296	c.4044C>T	c.(4042-4044)ccC>ccT	p.P1348P	SLIT2_ENST00000503837.1_Silent_p.P1344P|SLIT2_ENST00000273739.5_Silent_p.P1361P|SLIT2_ENST00000503823.1_Silent_p.P1340P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1348	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.P1348P(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CATGCCAGCCCAGCAGCCAGG	0.577000													21	25					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753772	140753772	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr5:140753772A>T	ENST00000517434.1	+	1	122	c.122A>T	c.(121-123)aAa>aTa	p.K41I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.K41I(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGAGAAAGGCTCCTTC	0.647000													5	30					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3255025	3255025	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:3255025T>G	ENST00000304646.2	+	1	779	c.779T>G	c.(778-780)tTt>tGt	p.F260C	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F260C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GCTGTGTATTTTAACCCTCTG	0.493000													65	111					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107710286	107710286	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:107710286G>C	ENST00000388781.3	-	18	2252	c.2169C>G	c.(2167-2169)agC>agG	p.S723R	LAMB4_ENST00000388780.3_Missense_Mutation_p.S723R|LAMB4_ENST00000205386.4_Missense_Mutation_p.S723R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	723	Laminin IV type B.				cell adhesion	basement membrane		p.S723R(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGTCCTGCTTGCTGCAGAAAT	0.428000													44	57					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32674751	32674751	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr11:32674751T>C	ENST00000335185.5	-	12	900	c.857A>G	c.(856-858)cAt>cGt	p.H286R	CCDC73_ENST00000534415.1_Intron	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	286								p.H286R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CTGCTGCATATGTTGGAAAGA	0.303000													29	42					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156222815	156222815	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:156222815T>A	ENST00000361813.5	-	18	2701	c.2557A>T	c.(2557-2559)Atg>Ttg	p.M853L	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	853					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	p.M853L(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TAGGGAGACATGGCTGACTGG	0.632000													6	13					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799763	45799763	+	Silent	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr10:45799763C>A	ENST00000553795.1	-	4	416	c.108G>T	c.(106-108)tcG>tcT	p.S36S	OR13A1_ENST00000374401.2_Silent_p.S36S|OR13A1_ENST00000536058.1_Silent_p.S36S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S36S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CTGGGTGCTCCGAAAAGCCCT	0.527000													23	15					3.10358e-05	3.43673e-05	1	1	0
XRRA1	143570	broad.mit.edu	37	11	74617397	74617397	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr11:74617397C>A	ENST00000340360.6	-	10	1197	c.866G>T	c.(865-867)aGt>aTt	p.S289I	XRRA1_ENST00000527087.1_Missense_Mutation_p.S289I|XRRA1_ENST00000321448.8_Missense_Mutation_p.S56I|RP11-147I3.1_ENST00000533875.1_RNA	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	289					response to X-ray	cytoplasm|nucleus		p.S289I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TTTATGGGGACTTCCCCTGCC	0.463000													11	45					0.00829132	0.00855315	1	1	0
SPAG6	9576	broad.mit.edu	37	10	22680767	22680767	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr10:22680767G>T	ENST00000376603.2	+	8	1485	c.1343G>T	c.(1342-1344)cGg>cTg	p.R448L	SPAG6_ENST00000376624.3_Missense_Mutation_p.R372L|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000313311.6_Missense_Mutation_p.R372L|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.R347L|SPAG6_ENST00000376601.1_Missense_Mutation_p.R133L			O75602	SPAG6_HUMAN	sperm associated antigen 6	372					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	p.R372L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GAACACGCACGGGCTGTTGCA	0.448000													15	18					6.31663e-08	7.50339e-08	1	1	0
OR10J3	441911	broad.mit.edu	37	1	159284274	159284274	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:159284274G>C	ENST00000332217.5	-	1	175	c.176C>G	c.(175-177)cCc>cGc	p.P59R		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P59R(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GAAGTACATGGGGGTGTGAAG	0.468000													54	57					0	0	1	0	0
STAT5A	6776	broad.mit.edu	37	17	40453374	40453374	+	Silent	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr17:40453374C>T	ENST00000345506.4	+	10	1713	c.1071C>T	c.(1069-1071)ggC>ggT	p.G357G	STAT5A_ENST00000452307.2_Silent_p.G357G|STAT5A_ENST00000590949.1_Silent_p.G357G|STAT5A_ENST00000546010.2_Silent_p.G327G|STAT5A_ENST00000588868.1_Silent_p.G357G	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	357					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G357G(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGCTGGTGGGCGGGAAGCTGA	0.562000													33	23					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514257	157514257	+	Silent	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:157514257G>T	ENST00000361835.3	-	5	796	c.639C>A	c.(637-639)acC>acA	p.T213T	FCRL5_ENST00000368191.3_Silent_p.T128T|FCRL5_ENST00000368189.3_Silent_p.T213T|FCRL5_ENST00000368190.3_Silent_p.T213T|FCRL5_ENST00000356953.4_Silent_p.T213T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	213	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity	p.T213T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGAGAGCTGGGTCTCACAGG	0.557000													30	109					3.1745e-13	4.50871e-13	1	1	0
SAGE1	55511	broad.mit.edu	37	X	134988657	134988657	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chrX:134988657G>A	ENST00000535938.1	+	7	850	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	SAGE1_ENST00000370709.3_Missense_Mutation_p.R228Q|SAGE1_ENST00000324447.3_Missense_Mutation_p.R228Q|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	228								p.R228Q(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CTTCGACCACGGCGTATTAAT	0.418000													73	110					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80762088	80762088	+	Splice_Site	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr12:80762088C>T	ENST00000458043.2	+	54	6593	c.6588_splice	c.e54+1	p.A2196_splice	OTOGL_ENST00000546620.1_Splice_Site_p.A215_splice|OTOGL_ENST00000547103.1_Splice_Site_p.A2184_splice	NM_173591.3	NP_775862.3			otogelin-like									p.A2196V(2)|p.A561V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTGTATACGCGGTATGTTTC	0.428000													4	5					0	0	1	0	0
ZNF416	55659	broad.mit.edu	37	19	58083957	58083957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr19:58083957C>A	ENST00000196489.3	-	4	1537	c.1315G>T	c.(1315-1317)Gag>Tag	p.E439*		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E439*(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TCATCACACTCAAAGGGCCTA	0.468000													34	30					8.4185e-14	1.2044e-13	1	1	0
CASKIN1	57524	broad.mit.edu	37	16	2229900	2229900	+	Silent	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:2229900G>T	ENST00000343516.6	-	18	3561	c.3469C>A	c.(3469-3471)Cgg>Agg	p.R1157R		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1157	Pro-rich.				signal transduction	cytoplasm		p.R1157R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCGGCCTCCCGCTCCTTGGCC	0.667000													4	9					0.184627	0.186531	1	1	0
E2F7	144455	broad.mit.edu	37	12	77438543	77438543	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr12:77438543T>A	ENST00000322886.7	-	6	1097	c.862A>T	c.(862-864)Aga>Tga	p.R288*	E2F7_ENST00000416496.2_Nonsense_Mutation_p.R288*	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	288					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.R288*(2)|p.R288G(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTCATAATTCTCAGAGACTTG	0.388000													37	21					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101798476	101798476	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr9:101798476C>T	ENST00000375001.3	+	20	2737	c.2314C>T	c.(2314-2316)Cgg>Tgg	p.R772W		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	772	Triple-helical region 3 (COL3).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.R772W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAAAGGAGACCGGGGACCCAA	0.478000													20	45					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77659344	77659344	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr18:77659344C>T	ENST00000316249.3	+	2	929	c.929C>T	c.(928-930)tCg>tTg	p.S310L	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	310					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.S310L(1)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGGCTGCGTTCGCTGGGCCTG	0.726000													2	2					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28602427	28602427	+	Splice_Site	SNP	T	T	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr13:28602427T>A	ENST00000380982.4	-	16	2024		c.e16-2		FLT3_ENST00000241453.7_Splice_Site|FLT3_ENST00000537084.1_Splice_Site			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.?(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGCTTTTTCTGTCAAAGAAA	0.383000			"""Mis, O"""		"""AML, ALL"""								6	13					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650286	232650286	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:232650286G>A	ENST00000366630.1	-	2	1158	c.800C>T	c.(799-801)gCc>gTc	p.A267V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A267V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	267					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.A267V(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CATCAGGAGGGCACTGTCCAC	0.493000													33	50					0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238462217	238462217	+	Silent	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr2:238462217G>T	ENST00000264605.3	+	16	2079	c.1785G>T	c.(1783-1785)gtG>gtT	p.V595V	MLPH_ENST00000410032.1_Silent_p.V452V|MLPH_ENST00000338530.4_Silent_p.V567V|MLPH_ENST00000445024.2_3'UTR|MLPH_ENST00000409373.1_Silent_p.V475V	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	595							metal ion binding	p.V595V(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGAAACCTGTGGTGGCCCACC	0.502000													20	13					4.35082e-09	5.36327e-09	1	1	0
OR4S2	219431	broad.mit.edu	37	11	55418437	55418437	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr11:55418437G>T	ENST00000312422.2	+	1	58	c.58G>T	c.(58-60)Gag>Tag	p.E20*		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E20*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TCAGAGCCCAGAGATTGAGAA	0.373000													29	50					7.01153e-11	9.22323e-11	1	1	0
GPR55	9290	broad.mit.edu	37	2	231774829	231774829	+	Silent	SNP	C	C	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr2:231774829C>A	ENST00000392040.1	-	2	1041	c.849G>T	c.(847-849)ctG>ctT	p.L283L	GPR55_ENST00000392039.2_Silent_p.L283L	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	283					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	p.D284Y(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGAAAACATCCAGGCAGCAGT	0.507000													55	39					4.88506e-25	7.84812e-25	1	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140772574	140772574	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr5:140772574G>T	ENST00000398604.2	+	1	194	c.194G>T	c.(193-195)cGt>cTt	p.R65L	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1												p.R65L(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGAGTCCGTATCGTCTCC	0.617000													14	46					3.41278e-10	4.37193e-10	1	1	0
MMD2	221938	broad.mit.edu	37	7	4949568	4949568	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:4949568C>T	ENST00000404774.3	-	6	747	c.553G>A	c.(553-555)Gag>Aag	p.E185K	MMD2_ENST00000401401.3_Missense_Mutation_p.E161K|MMD2_ENST00000406755.1_Missense_Mutation_p.E161K	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	185						integral to membrane	receptor activity	p.E161K(1)|p.E185K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CAGAGAAGCTCCACAAGCTTG	0.577000													20	20					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178418906	178418906	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr5:178418906C>G	ENST00000231188.5	-	2	861	c.683G>C	c.(682-684)aGt>aCt	p.S228T	GRM6_ENST00000517717.1_Missense_Mutation_p.S228T	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	228					detection of visible light|visual perception	integral to plasma membrane		p.S228T(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTCAACCCCACTTTCGCCATA	0.632000													9	25					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28702079	28702079	+	Silent	SNP	A	A	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr12:28702079A>T	ENST00000545336.1	+	16	1718	c.1299A>T	c.(1297-1299)atA>atT	p.I433I	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Silent_p.I397I|CCDC91_ENST00000381259.1_Silent_p.I433I|CCDC91_ENST00000306172.5_Silent_p.I403I|CCDC91_ENST00000381256.1_Silent_p.I397I			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	433					protein transport	Golgi apparatus|membrane		p.I433I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTGCTTTAATAGCTACGGAAC	0.373000													54	31					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18625111	18625111	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:18625111G>T	ENST00000406451.3	+	3	380	c.230G>T	c.(229-231)cGg>cTg	p.R77L	HDAC9_ENST00000406072.1_Missense_Mutation_p.R105L|HDAC9_ENST00000441542.2_Missense_Mutation_p.R77L|HDAC9_ENST00000432645.2_Missense_Mutation_p.R77L|HDAC9_ENST00000401921.1_Missense_Mutation_p.R77L|HDAC9_ENST00000456174.2_Missense_Mutation_p.R46L|HDAC9_ENST00000524023.1_Missense_Mutation_p.R46L|HDAC9_ENST00000417496.2_Missense_Mutation_p.R119L|HDAC9_ENST00000405010.3_Missense_Mutation_p.R77L|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000428307.2_Missense_Mutation_p.R77L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	77					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.R77L(3)|p.R119L(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AACTTGACACGGCAGCACCAG	0.483000													19	20					5.35267e-07	6.17131e-07	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105408258	105408258	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr14:105408258G>T	ENST00000333244.5	-	7	13649	c.13530C>A	c.(13528-13530)gaC>gaA	p.D4510E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4510						nucleus		p.D4510E(1)		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)			GAATGCGGAGGTCAGTGGTCT	0.622000													35	84					4.11147e-13	5.79747e-13	1	1	0
MYBPC3	4607	broad.mit.edu	37	11	47374196	47374196	+	Translation_Start_Site	SNP	C	C	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr11:47374196C>T	ENST00000545968.1	-	1	57	c.3G>A	c.(1-3)atG>atA	p.M1I	MYBPC3_ENST00000256993.4_Start_Codon_SNP_p.M1I|MYBPC3_ENST00000399249.2_Start_Codon_SNP_p.M1I	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.M1I(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CCGGCTCAGGCATCCTGAGAG	0.602000													20	34					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102709964	102709964	+	Missense_Mutation	SNP	G	G	A	rs147533686	by1000genomes	TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr11:102709964G>A	ENST00000299855.5	-	7	1202	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	316	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R316C(3)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AGGGATTTGCGCCAAAAGTGC	0.403000													28	32					0	0	1	0	0
CYB5B	80777	broad.mit.edu	37	16	69458735	69458735	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr16:69458735A>G	ENST00000512062.1	+	1	308	c.137A>G	c.(136-138)tAc>tGc	p.Y46C	CYB5B_ENST00000561792.1_Missense_Mutation_p.Y46C|CYB5B_ENST00000307892.8_Missense_Mutation_p.Y50C|CYB5B_ENST00000515314.1_Missense_Mutation_p.Y46C			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	46	Cytochrome b5 heme-binding.				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding	p.Y50C(1)		endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				GGGCGAGTCTACGATGTCACC	0.597000													12	15					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68490853	68490853	+	Silent	SNP	T	T	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr4:68490853T>A	ENST00000322244.4	-	29	2630	c.2571A>T	c.(2569-2571)ggA>ggT	p.G857G		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	857					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.G857G(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AATCTATGTGTCCATTATGAT	0.388000													22	57					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42643114	42643114	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr18:42643114G>T	ENST00000282030.5	+	6	4538	c.4242G>T	c.(4240-4242)atG>atT	p.M1414I		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1414						nucleus	DNA binding	p.M1360I(1)|p.M1414I(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCGGAAGATGTGCAACTACA	0.532000									Schinzel-Giedion syndrome				17	20					4.7546e-09	5.82439e-09	1	1	0
EPS15	2060	broad.mit.edu	37	1	51829698	51829698	+	Silent	SNP	G	G	C			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr1:51829698G>C	ENST00000371733.3	-	23	2295	c.2199C>G	c.(2197-2199)gtC>gtG	p.V733V	EPS15_ENST00000371730.2_Silent_p.V599V|EPS15_ENST00000396122.4_Silent_p.V410V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	733	15 X 3 AA repeats of D-P-F.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)|p.V733V(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTTCATTGTTGACCTTTGTTT	0.343000			T	MLL	ALL								3	40					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47976473	47976473	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:47976473G>T	ENST00000289672.2	-	4	418	c.368C>A	c.(367-369)gCg>gAg	p.A123E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	123					cell-cell adhesion	integral to membrane		p.A123E(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATCCAGAGGCGCCTGTGTTTT	0.348000													28	84					1.39806e-14	2.01484e-14	1	1	0
KIAA0195	9772	broad.mit.edu	37	17	73484840	73484840	+	Splice_Site	SNP	G	G	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr17:73484840G>A	ENST00000314256.7	+	7	1007	c.612_splice	c.e7-1	p.D205_splice	KIAA0195_ENST00000375248.5_Splice_Site_p.D215_splice|KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000583795.1_3'UTR	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	205					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	p.D205N(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCCGGCAGGATGACGAGCA	0.612000													19	75					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5245847	5245847	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr19:5245847T>A	ENST00000372412.4	-	10	1164	c.931A>T	c.(931-933)Acc>Tcc	p.T311S	PTPRS_ENST00000357368.4_Missense_Mutation_p.T310S|PTPRS_ENST00000353284.2_Missense_Mutation_p.T297S|PTPRS_ENST00000348075.2_Missense_Mutation_p.T297S|PTPRS_ENST00000592099.1_Missense_Mutation_p.T297S|PTPRS_ENST00000262963.6_Missense_Mutation_p.T306S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.T297S|PTPRS_ENST00000587303.1_Missense_Mutation_p.T310S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	310	Ig-like C2-type 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T310S(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCCACGCAGGTGTAGTTGGCC	0.632000													15	7					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32658718	32658719	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr2:32658718_32658719insT	ENST00000421745.2	+	13	3389_3390	c.3255_3256insT	c.(3253-3258)aggggafs	p.R1085fs		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1085					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAGCAACAGCTGGGATGAACA	0.351													10	11	---	---	---	---					
OR5H7P	79291	broad.mit.edu	37	3	97957802	97957802	+	RNA	DEL	G	G	-			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr3:97957802delG	ENST00000508616.1	+	0	26																											TTTTATTTTCGCAGATTCAAT	0.274													14	16	---	---	---	---					
SPDYE1	285955	broad.mit.edu	37	7	44042208	44042208	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:44042208delC	ENST00000258704.3	+	2	416	c.279delC	c.(277-279)agfs	p.S93fs	POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	93										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						TAGATCCCAGCCCCCCGCATA	0.572													3	3	---	---	---	---					
TRBV7-4	28594	broad.mit.edu	37	7	142176678	142176679	+	RNA	DEL	CA	CA	-			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr7:142176678_142176679delCA	ENST00000390369.2	-	0	49																											GTAGTCATCGCACACACACACA	0.460													8	72	---	---	---	---					
IRS2	8660	broad.mit.edu	37	13	110435129	110435129	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr13:110435129delG	ENST00000375856.3	-	1	3786	c.3272delC	c.(3271-3273)cgfs	p.P1091fs		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1091					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TTCTGGCTTCGGGGGGGCCGC	0.682													2	4	---	---	---	---					
PPM1E	22843	broad.mit.edu	37	17	56833457	56833458	+	In_Frame_Ins	INS	-	-	GAACCC	rs72376816	by1000genomes	TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr17:56833457_56833458insGAACCC	ENST00000308249.2	+	1	228_229	c.99_100insGAACCC	c.(97-102)ccaacc>ccGAACCCaacc	p.32_33insPN		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	32	11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaacc	0.673													6	2	---	---	---	---					
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-	rs77187934		TCGA-05-5423-01A-01D-1625-08	TCGA-05-5423-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	209d853d-6c50-4223-a572-a90d58aee51e	6452e130-5262-4556-b762-a7c3b4e53f74	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000422689.2_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													3	6	---	---	---	---					
