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
NPAP1	23742	broad.mit.edu	37	15	24922305	24922305	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr15:24922305G>T	ENST00000329468.2	+	1	1765	c.1291G>T	c.(1291-1293)Gac>Tac	p.D431Y		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGACTTGGCTGACCTGGCTAC	0.542000													7	62					0.00198382	0.00223979	0.001984	1	0
KRT40	125115	broad.mit.edu	37	17	39137108	39137108	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr17:39137108G>T	ENST00000377755.4	-	5	938	c.904C>A	c.(904-906)Cag>Aag	p.Q302K	KRT40_ENST00000398486.2_Missense_Mutation_p.Q302K			Q6A162	K1C40_HUMAN	keratin 40	302	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				ATCTCCATCTGGCAGCCCTGC	0.522000													17	136					2.5808e-16	3.99681e-16	0.006122	1	0
PCDH10	57575	broad.mit.edu	37	4	134073195	134073195	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr4:134073195C>G	ENST00000264360.4	+	1	2726	c.1900C>G	c.(1900-1902)Cgc>Ggc	p.R634G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	634	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CATGGACTGGCGCACCGGGGA	0.692000													19	53					0	0	0.001882	0	0
MUC5B	727897	broad.mit.edu	37	11	1264070	1264070	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr11:1264070C>T	ENST00000447027.1	+	31	6027	c.5969C>T	c.(5968-5970)tCc>tTc	p.S1990F	MUC5B_ENST00000529681.1_Missense_Mutation_p.S1987F|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1987	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCTCTTCCTCCCTGGGCACC	0.637000													45	197					0	0	0.003610	0	0
TMEM215	401498	broad.mit.edu	37	9	32784340	32784340	+	Silent	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr9:32784340C>T	ENST00000342743.5	+	2	524	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	53						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GCCTACCAGGCATCGCAGCCA	0.587000													10	50					0	0	0.006214	0	0
GBP3	2635	broad.mit.edu	37	1	89480335	89480335	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:89480335T>A	ENST00000370481.4	-	4	543	c.323A>T	c.(322-324)gAc>gTc	p.D108V		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	108						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ATTCTGGTTGTCACCCTGGAA	0.473000													25	61					0	0	0.008361	0	0
ARMC9	80210	broad.mit.edu	37	2	232146780	232146780	+	Silent	SNP	G	G	A	rs34385474	byFrequency	TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:232146780G>A	ENST00000349938.4	+	17	1754	c.1560G>A	c.(1558-1560)ccG>ccA	p.P520P	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	520							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGATACAGCCGTATGTGAATG	0.423000													7	140					0	0	0.003080	0	0
SMG1	23049	broad.mit.edu	37	16	18866017	18866017	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr16:18866017C>T	ENST00000446231.2	-	30	4856	c.4444G>A	c.(4444-4446)Gaa>Aaa	p.E1482K	SMG1_ENST00000389467.3_Missense_Mutation_p.E1482K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1482	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATATCAAGTTCGGGCCCCCAT	0.338000													8	56					0	0	0.003080	0	0
OR52R1	119695	broad.mit.edu	37	11	4824767	4824767	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr11:4824767G>C	ENST00000380382.1	-	1	1080	c.1081C>G	c.(1081-1083)Ctc>Gtc	p.L361V	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.L282V|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTAGATAGAGATTAGCAAAC	0.468000													34	130					0	0	0.002445	0	0
C1orf173	127254	broad.mit.edu	37	1	75038965	75038965	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:75038965C>A	ENST00000326665.5	-	14	2647	c.2429G>T	c.(2428-2430)aGg>aTg	p.R810M	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	810	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCCACGCCCTCAAGGGAGC	0.557000													15	89					0.000308642	0.000364948	0.003163	1	0
CD163	9332	broad.mit.edu	37	12	7649703	7649703	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr12:7649703C>T	ENST00000359156.4	-	5	1007	c.805G>A	c.(805-807)Gta>Ata	p.V269I	CD163_ENST00000432237.2_Missense_Mutation_p.V269I|CD163_ENST00000396620.3_Missense_Mutation_p.V269I|CD163_ENST00000541972.1_Missense_Mutation_p.V257I	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	269	SRCR 3.	Cleavage; in calcium-free condition.			acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACTCCATCTACCAGTCTCAGG	0.458000													9	86					0	0	0.006214	0	0
ASTN2	23245	broad.mit.edu	37	9	119202889	119202889	+	Splice_Site	SNP	T	T	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr9:119202889T>A	ENST00000313400.4	-	22	3881	c.3782_splice	c.e22+1	p.R1261_splice	ASTN2_ENST00000373996.3_Splice_Site_p.R1257_splice|ASTN2_ENST00000288520.5_Splice_Site_p.R362_splice|ASTN2_ENST00000361477.3_Splice_Site_p.R313_splice|ASTN2_ENST00000361209.2_Splice_Site_p.R1210_splice|ASTN2_ENST00000341734.4_Splice_Site_p.R313_splice			O75129	ASTN2_HUMAN	astrotactin 2	1261						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGCCCATACCTGGGCCCCAGC	0.507000													5	45					0	0	0.000602	0	0
OPRL1	4987	broad.mit.edu	37	20	62730084	62730084	+	Missense_Mutation	SNP	G	G	A	rs138440707		TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr20:62730084G>A	ENST00000349451.3	+	6	1457	c.1045G>A	c.(1045-1047)Gtg>Atg	p.V349M	OPRL1_ENST00000336866.2_Missense_Mutation_p.V349M|OPRL1_ENST00000355631.4_Missense_Mutation_p.V349M	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	349					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GTCTGACCGCGTGCGCAGCAT	0.642000													14	49					0	0	0.001855	0	0
ABCB5	340273	broad.mit.edu	37	7	20721241	20721241	+	Silent	SNP	T	T	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr7:20721241T>A	ENST00000404938.2	+	15	2473	c.1821T>A	c.(1819-1821)gcT>gcA	p.A607A	ABCB5_ENST00000258738.6_Silent_p.A162A	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	162	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAGCACATGCTGAACTAATGG	0.428000													10	51					0	0	0.008291	0	0
CDHR2	54825	broad.mit.edu	37	5	176011494	176011494	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr5:176011494G>A	ENST00000510636.1	+	19	2486	c.2212G>A	c.(2212-2214)Ggt>Agt	p.G738S	CDHR2_ENST00000506348.1_Missense_Mutation_p.G738S|CDHR2_ENST00000261944.5_Missense_Mutation_p.G738S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	738	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTCGGGGAGTGGTGCCAACTA	0.642000													42	134					0	0	0.002222	0	0
MAL2	114569	broad.mit.edu	37	8	120252494	120252494	+	Silent	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr8:120252494C>T	ENST00000276681.6	+	4	495	c.393C>T	c.(391-393)tgC>tgT	p.C131C	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	131	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			ATTTGCATTGCAATACAACCA	0.403000													7	51					0	0	0.003080	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178540919	178540919	+	Silent	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr5:178540919G>T	ENST00000251582.7	-	22	3686	c.3585C>A	c.(3583-3585)atC>atA	p.I1195I		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1195					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGAGCTCTTGGATTCTTTGGT	0.433000													13	136					2.68362e-12	4.04856e-12	0.001368	1	0
PEAR1	375033	broad.mit.edu	37	1	156882331	156882331	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:156882331A>T	ENST00000338302.3	+	18	2351	c.2126A>T	c.(2125-2127)cAg>cTg	p.Q709L	PEAR1_ENST00000292357.7_Missense_Mutation_p.Q709L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	709						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCCATGCCAGTGTGGTCCT	0.607000													19	66					0	0	0.007413	0	0
FAM47C	442444	broad.mit.edu	37	X	37027425	37027425	+	Silent	SNP	C	C	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chrX:37027425C>G	ENST00000358047.3	+	1	994	c.942C>G	c.(940-942)cgC>cgG	p.R314R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	314										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						CCAAGTCACGCGTATCTCATC	0.607000													20	37					0	0	0.008871	0	0
POLR1A	25885	broad.mit.edu	37	2	86272749	86272749	+	Silent	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:86272749G>A	ENST00000263857.6	-	20	3255	c.2877C>T	c.(2875-2877)atC>atT	p.I959I	POLR1A_ENST00000409681.1_Silent_p.I959I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	959					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAGGAGGTTTGATGCCGGTGA	0.507000													13	122					0	0	0.002450	0	0
B3GAT1	27087	broad.mit.edu	37	11	134251867	134251867	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr11:134251867T>A	ENST00000524765.1	-	5	5514	c.970A>T	c.(970-972)Aag>Tag	p.K324*	B3GAT1_ENST00000537389.1_Nonsense_Mutation_p.K337*|B3GAT1_ENST00000392580.1_Nonsense_Mutation_p.K324*|B3GAT1_ENST00000312527.4_Nonsense_Mutation_p.K324*			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	324					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		AAGCCCTTCTTGCCCTCATTC	0.607000													6	70					0	0	0.001168	0	0
TMEM132E	124842	broad.mit.edu	37	17	32961947	32961947	+	Silent	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr17:32961947C>T	ENST00000321639.5	+	8	1876	c.1548C>T	c.(1546-1548)tcC>tcT	p.S516S		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	516						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CGACATCATCCGAGGGCACTG	0.637000													8	85					0	0	0.008291	0	0
GPR158	57512	broad.mit.edu	37	10	25861630	25861630	+	Missense_Mutation	SNP	G	G	T	rs138045559		TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr10:25861630G>T	ENST00000376351.3	+	7	1926	c.1567G>T	c.(1567-1569)Ggc>Tgc	p.G523C		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	523						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATATATGACTGGCGGACGGGT	0.418000													13	69					0.000219431	0.000264831	0.002450	1	0
TOR1A	1861	broad.mit.edu	37	9	132584947	132584947	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr9:132584947A>C	ENST00000351698.4	-	2	405	c.357T>G	c.(355-357)atT>atG	p.I119M	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	119					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				CACCCTCGTAAATATTCTCTG	0.488000													10	128					0	0	0.000978	0	0
FCGBP	8857	broad.mit.edu	37	19	40411646	40411646	+	Nonsense_Mutation	SNP	T	T	A	rs139603547		TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr19:40411646T>A	ENST00000221347.6	-	7	3989	c.3982A>T	c.(3982-3984)Aag>Tag	p.K1328*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1328	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACCGTGACCTTCCACTGTCTC	0.647000													30	119					0	0	0.002836	0	0
F8	2157	broad.mit.edu	37	X	154159066	154159066	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chrX:154159066G>A	ENST00000360256.4	-	14	3199	c.2999C>T	c.(2998-3000)cCt>cTt	p.P1000L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1000	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CAACAAAGCAGGTCCATGAGC	0.343000													16	47					0	0	0.004990	0	0
TNRC6A	27327	broad.mit.edu	37	16	24803129	24803129	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr16:24803129A>T	ENST00000395799.3	+	6	3295	c.3166A>T	c.(3166-3168)Agt>Tgt	p.S1056C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S1056C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1056	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AGAGGCAAGCAGTGGCTCTGG	0.408000													4	12					0	0	0.000602	0	0
AKAP9	10142	broad.mit.edu	37	7	91622330	91622330	+	Silent	SNP	A	A	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr7:91622330A>G	ENST00000359028.2	+	6	798	c.573A>G	c.(571-573)gaA>gaG	p.E191E	AKAP9_ENST00000358100.2_Silent_p.E191E|AKAP9_ENST00000356239.3_Silent_p.E179E|AKAP9_ENST00000394564.1_Silent_p.E179E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	191					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGAGCTGGAAGAAATGAGGG	0.433000			T	BRAF	papillary thyroid								6	51					0	0	0.001984	0	0
ZNF28	7576	broad.mit.edu	37	19	53303701	53303701	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr19:53303701G>T	ENST00000438150.2	-	2	2131	c.1238C>A	c.(1237-1239)cCa>cAa	p.P413Q	ZNF28_ENST00000360272.4_Missense_Mutation_p.P413Q|ZNF28_ENST00000414252.2_Missense_Mutation_p.P413Q|ZNF28_ENST00000457749.2_Missense_Mutation_p.P466Q			P17035	ZNF28_HUMAN	zinc finger protein 28	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACATTTGTATGGTTTCTCTGC	0.388000													11	93					3.07112e-06	3.95181e-06	0.000978	1	0
ZNF217	7764	broad.mit.edu	37	20	52198292	52198292	+	Silent	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr20:52198292C>T	ENST00000371471.2	-	2	1499	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	ZNF217_ENST00000302342.3_Silent_p.A358A			O75362	ZN217_HUMAN	zinc finger protein 217	358					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A358A(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCACGGAGGGCGCTTCGCCGT	0.557000													9	110					0	0	0.004482	0	0
WLS	79971	broad.mit.edu	37	1	68603589	68603589	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:68603589C>A	ENST00000262348.4	-	11	1643	c.1390G>T	c.(1390-1392)Ggc>Tgc	p.G464C	GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.G462C|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.G373C|WLS_ENST00000540432.1_Missense_Mutation_p.G464C	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	464					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						ACTGTGACGCCGCCCCATTTC	0.438000													12	53					2.27111e-07	3.03393e-07	0.001368	1	0
TBX1	6899	broad.mit.edu	37	22	19750849	19750849	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr22:19750849G>A	ENST00000332710.4	+	4	625	c.496G>A	c.(496-498)Gac>Aac	p.D166N	TBX1_ENST00000329705.7_Missense_Mutation_p.D166N|TBX1_ENST00000359500.3_Missense_Mutation_p.D166N	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	166					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CGTGCCGGTGGACGATAAGCG	0.612000													13	40					0	0	0.001855	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884933	12884933	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:12884933T>C	ENST00000535591.1	-	4	1373	c.1178A>G	c.(1177-1179)cAa>cGa	p.Q393R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	393										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGCCCTAATTTGAGCAAATCT	0.488000													30	317					0	0	0.006320	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744057	135744057	+	Silent	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:135744057G>A	ENST00000375845.3	-	7	2415	c.2385C>T	c.(2383-2385)tcC>tcT	p.S795S	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.S682S|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.S812S|MAP3K19_ENST00000392917.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TCTGTTTCATGGACTGCTCAG	0.388000													6	68					0	0	0.001168	0	0
FER	2241	broad.mit.edu	37	5	108382819	108382819	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr5:108382819A>G	ENST00000281092.4	+	16	2228	c.1844A>G	c.(1843-1845)tAt>tGt	p.Y615C	FER_ENST00000438717.2_Missense_Mutation_p.Y440C	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	615	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTCAAGCAATATGATCATCCC	0.313000													5	27					0	0	0.000602	0	0
ADNP2	22850	broad.mit.edu	37	18	77896341	77896341	+	Silent	SNP	G	G	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr18:77896341G>C	ENST00000262198.4	+	4	3500	c.3045G>C	c.(3043-3045)gtG>gtC	p.V1015V		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1015					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CGAGTGTTGTGCCTTTTAAAA	0.507000													13	47					0	0	0.003163	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													4	69					0	0	0.000248	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			3	10					3.59834e-05	4.40356e-05	0.001168	1	0
CDH2	1000	broad.mit.edu	37	18	25616479	25616479	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr18:25616479T>A	ENST00000399380.3	-	1	70	c.34A>T	c.(34-36)Act>Tct	p.T12S	CDH2_ENST00000269141.3_Intron			P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	0				Missing (in Ref. 3; AAB22854).	adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AATTTCTCAGTGAAGATACAC	0.328000													30	135					0	0	0.003755	0	0
ENPP2	5168	broad.mit.edu	37	8	120594688	120594688	+	Silent	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr8:120594688G>T	ENST00000427067.2	-	18	1866	c.1686C>A	c.(1684-1686)ggC>ggA	p.G562G	ENPP2_ENST00000259486.6_Silent_p.G618G|ENPP2_ENST00000522167.1_Silent_p.G205G|ENPP2_ENST00000522826.1_Silent_p.G566G|ENPP2_ENST00000075322.6_Silent_p.G566G			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	566					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CACAAGTGCAGCCCAGGTCAA	0.438000													18	99					1.02788e-11	1.51159e-11	0.004990	1	0
PTPRS	5802	broad.mit.edu	37	19	5274329	5274329	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr19:5274329T>A	ENST00000372412.4	-	3	351	c.118A>T	c.(118-120)Aag>Tag	p.K40*	PTPRS_ENST00000348075.2_Nonsense_Mutation_p.K40*|PTPRS_ENST00000357368.4_Nonsense_Mutation_p.K40*|PTPRS_ENST00000353284.2_Nonsense_Mutation_p.K40*|PTPRS_ENST00000592099.1_Nonsense_Mutation_p.K40*|PTPRS_ENST00000262963.6_Nonsense_Mutation_p.K40*|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Nonsense_Mutation_p.K40*|PTPRS_ENST00000588012.1_Nonsense_Mutation_p.K40*|PTPRS_ENST00000590509.1_Nonsense_Mutation_p.K40*			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	40	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)		ATCTGGTCCTTGGGTTCTTTG	0.597000													16	28					0	0	0.004007	0	0
CNP	1267	broad.mit.edu	37	17	40120102	40120102	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr17:40120102G>A	ENST00000393892.2	+	2	164	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	CNP_ENST00000472031.1_Intron|CNP_ENST00000591072.1_Intron|CNP_ENST00000393888.1_5'UTR|CNP_ENST00000592446.1_3'UTR	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	7					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGCTTCTCCCGAAAAAGCCAC	0.567000													7	98					0	0	0.003080	0	0
NUP214	8021	broad.mit.edu	37	9	134034776	134034776	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr9:134034776C>T	ENST00000359428.5	+	18	2587	c.2443C>T	c.(2443-2445)Cgg>Tgg	p.R815W	RP11-544A12.4_ENST00000589128.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.R805W|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.R816W|RP11-544A12.4_ENST00000589667.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	815	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ATAGGAAATTCGGCGCCTTCA	0.343000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								6	25					0	0	0.001984	0	0
KPTN	11133	broad.mit.edu	37	19	47986421	47986421	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr19:47986421G>C	ENST00000338134.3	-	4	553	c.446C>G	c.(445-447)gCg>gGg	p.A149G	KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	149					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CACTCACTCCGCATGGCACAG	0.577000													43	230					0	0	0.003610	0	0
MRPL18	29074	broad.mit.edu	37	6	160211662	160211662	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr6:160211662A>G	ENST00000367034.4	+	1	165	c.43A>G	c.(43-45)Agg>Ggg	p.R15G	MRPL18_ENST00000480842.1_3'UTR	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	15					rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		CTCGGTTTGCAGGAACCCTGG	0.557000													3	63					0	0	0.000248	0	0
NXPH4	11247	broad.mit.edu	37	12	57619307	57619307	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr12:57619307T>A	ENST00000349394.5	+	2	879	c.704T>A	c.(703-705)gTg>gAg	p.V235E		NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	235	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						AATTGCCACGTGGAGTATGAG	0.692000													4	26					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179451522	179451522	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:179451522G>A	ENST00000589042.1	-	308	64330	c.64106C>T	c.(64105-64107)cCc>cTc	p.P21369L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P19728L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18801L|TTN_ENST00000342175.6_Missense_Mutation_p.P12496L|TTN_ENST00000359218.5_Missense_Mutation_p.P12429L|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P12304L|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19728	Ig-like 113.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCTTGGGGGATCCGGCTC	0.408000													10	104					0	0	0.001368	0	0
NCAPD2	9918	broad.mit.edu	37	12	6619879	6619879	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr12:6619879C>T	ENST00000315579.5	+	5	1146	c.347C>T	c.(346-348)gCc>gTc	p.A116V	NCAPD2_ENST00000545962.1_Missense_Mutation_p.A71V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	116	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CATCTAAATGCCCTCAAAATG	0.502000													5	104					0	0	0.001168	0	0
ABCB5	340273	broad.mit.edu	37	7	20689732	20689732	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr7:20689732C>A	ENST00000404938.2	+	12	1946	c.1294C>A	c.(1294-1296)Cag>Aag	p.Q432K	ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000443026.2_5'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	616	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TACGGTAGTCCAGCTTCTGCA	0.478000													6	57					2.0095e-06	2.6049e-06	0.001984	1	0
PIGG	54872	broad.mit.edu	37	4	515677	515677	+	Missense_Mutation	SNP	G	G	A	rs138569779	byFrequency	TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr4:515677G>A	ENST00000453061.2	+	8	1667	c.1561G>A	c.(1561-1563)Gtg>Atg	p.V521M	PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.V388M|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.V513M|PIGG_ENST00000509768.1_Missense_Mutation_p.V432M|PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.V432M	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	521					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GCTGCTGTGTGTGATTGTGTC	0.587000													5	60					0	0	0.000602	0	0
USH1C	10083	broad.mit.edu	37	11	17542494	17542494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr11:17542494C>T	ENST00000005226.7	-	14	1132	c.1133G>A	c.(1132-1134)tGg>tAg	p.W378*	USH1C_ENST00000527020.1_Nonsense_Mutation_p.W359*|USH1C_ENST00000318024.4_Nonsense_Mutation_p.W378*|USH1C_ENST00000527720.1_Nonsense_Mutation_p.W347*	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	378					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTTTGAGCCCCAGTCTTCTTC	0.498000													105	448					0	0	0.003610	0	0
OR51F1	256892	broad.mit.edu	37	11	4790208	4790208	+	Splice_Site	SNP	T	T	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr11:4790208T>C	ENST00000380383.1	-	1	960		c.e1+1		MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Splice_Site			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1							integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACTATGTCTGTTCATTTTGTA	0.403000													5	31					0	0	0.001168	0	0
CDH23	64072	broad.mit.edu	37	10	73569756	73569756	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr10:73569756G>A	ENST00000224721.6	+	60	8922	c.8917G>A	c.(8917-8919)Gtg>Atg	p.V2973M	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.V728M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2968	Cadherin 27.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCCCGACCGTGTGCGCGGCTT	0.602000													21	106					0	0	0.002780	0	0
MERTK	10461	broad.mit.edu	37	2	112754934	112754934	+	Silent	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:112754934G>T	ENST00000295408.4	+	10	1742	c.1485G>T	c.(1483-1485)gcG>gcT	p.A495A	MERTK_ENST00000421804.2_Silent_p.A495A|MERTK_ENST00000409780.1_Silent_p.A319A			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	495					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAACTCCGGCGCCTGGCAACG	0.448000													46	171					3.21987e-24	5.16952e-24	0.003610	1	0
KIAA1161	57462	broad.mit.edu	37	9	34371852	34371852	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr9:34371852C>T	ENST00000297625.7	-	2	1213	c.988G>A	c.(988-990)Gac>Aac	p.D330N		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	364					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TCATCGAAGTCGAAGTCGCCA	0.582000													6	62					0	0	0.001168	0	0
DST	667	broad.mit.edu	37	6	56371588	56371588	+	Splice_Site	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr6:56371588C>A	ENST00000370754.5	-	76	19146		c.e76-1		DST_ENST00000244364.6_Splice_Site|DST_ENST00000370769.4_Splice_Site|DST_ENST00000370788.2_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000421834.2_Splice_Site|DST_ENST00000312431.6_Splice_Site|DST_ENST00000340834.4_Splice_Site|DST_ENST00000361203.3_Splice_Site			Q03001	DYST_HUMAN	dystonin						cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCTTATGGTCTAGAATAAGA	0.378000													27	94					4.02929e-09	5.73273e-09	0.002096	1	0
ZNF600	162966	broad.mit.edu	37	19	53268962	53268962	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr19:53268962G>C	ENST00000338230.3	-	3	2314	c.2047C>G	c.(2047-2049)Caa>Gaa	p.Q683E		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	683					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CCAGTATGTTGTTTCAGGTGT	0.403000													13	63					0	0	0.001368	0	0
NRP2	8828	broad.mit.edu	37	2	206581061	206581061	+	Silent	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:206581061G>T	ENST00000360409.3	+	3	1187	c.396G>T	c.(394-396)ggG>ggT	p.G132G	NRP2_ENST00000357785.5_Silent_p.G132G|NRP2_ENST00000272849.3_Silent_p.G132G|NRP2_ENST00000355117.4_Silent_p.G132G|NRP2_ENST00000540841.1_Silent_p.G132G|NRP2_ENST00000417189.1_Silent_p.G132G|NRP2_ENST00000540178.1_Silent_p.G132G|NRP2_ENST00000412873.2_Silent_p.G132G|NRP2_ENST00000357118.4_Silent_p.G132G	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	132	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCCGGCAGGGGGCAGGCTTCT	0.607000													19	76					8.10497e-08	1.09951e-07	0.001523	1	0
RNF144A	9781	broad.mit.edu	37	2	7170334	7170334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:7170334G>A	ENST00000320892.6	+	8	1177	c.735G>A	c.(733-735)tgG>tgA	p.W245*	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	245						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CTGTGATCTGGCATCGGACAC	0.537000													6	90					0	0	0.001984	0	0
TARDBP	23435	broad.mit.edu	37	1	11082410	11082410	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:11082410C>T	ENST00000240185.3	+	6	1058	c.944C>T	c.(943-945)gCg>gTg	p.A315V	TARDBP_ENST00000439080.2_Missense_Mutation_p.A199V|TARDBP_ENST00000315091.3_Intron	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	315	Gly-rich.		A -> T (in ALS10).		3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AACTTTGGTGCGTTCAGCATT	0.532000													5	82					0	0	0.000602	0	0
ZP4	57829	broad.mit.edu	37	1	238048857	238048857	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:238048857C>A	ENST00000366570.4	-	8	1152	c.994G>T	c.(994-996)Ggt>Tgt	p.G332C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	332	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			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)			TCACCAACACCGTAGTAAGAG	0.483000													10	58					0.000442599	0.000519831	0.006214	1	0
KCNF1	3754	broad.mit.edu	37	2	11053812	11053812	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:11053812G>T	ENST00000295082.1	+	1	1750	c.1260G>T	c.(1258-1260)gaG>gaT	p.E420D		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	420						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GCGTCCTGGAGACCGCGGCCA	0.622000													4	40					0.000602214	0.000702583	0.000602	1	0
CACNA1B	774	broad.mit.edu	37	9	140968458	140968458	+	Silent	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr9:140968458G>T	ENST00000277549.5	+	34	4948	c.2379G>T	c.(2377-2379)ctG>ctT	p.L793L	CACNA1B_ENST00000371357.1_Silent_p.L1598L|CACNA1B_ENST00000277551.2_Silent_p.L1599L|CACNA1B_ENST00000371355.4_Silent_p.L1600L|CACNA1B_ENST00000371363.1_Silent_p.L1597L|CACNA1B_ENST00000371372.1_Silent_p.L1599L			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1599					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGCAGGCCCTGCCCTACGTGT	0.642000													29	114					8.16721e-17	1.27613e-16	0.002096	1	0
NRP2	8828	broad.mit.edu	37	2	206581060	206581060	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:206581060G>T	ENST00000360409.3	+	3	1186	c.395G>T	c.(394-396)gGg>gTg	p.G132V	NRP2_ENST00000357785.5_Missense_Mutation_p.G132V|NRP2_ENST00000272849.3_Missense_Mutation_p.G132V|NRP2_ENST00000355117.4_Missense_Mutation_p.G132V|NRP2_ENST00000540841.1_Missense_Mutation_p.G132V|NRP2_ENST00000417189.1_Missense_Mutation_p.G132V|NRP2_ENST00000540178.1_Missense_Mutation_p.G132V|NRP2_ENST00000412873.2_Missense_Mutation_p.G132V|NRP2_ENST00000357118.4_Missense_Mutation_p.G132V	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	132	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCCCGGCAGGGGGCAGGCTTC	0.607000													19	78					8.10497e-08	1.09951e-07	0.001523	1	0
KRTAP19-8	728299	broad.mit.edu	37	21	32410632	32410632	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr21:32410632T>G	ENST00000382822.2	-	1	163	c.131A>C	c.(130-132)tAt>tCt	p.Y44S		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	44						intermediate filament				endometrium(2)|upper_aerodigestive_tract(1)	3						GCTGAATCCATAGCCTCCGTA	0.517000													19	97					0	0	0.008871	0	0
WT1	7490	broad.mit.edu	37	11	32413568	32413568	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr11:32413568G>T	ENST00000332351.3	-	9	1666	c.1382C>A	c.(1381-1383)tCc>tAc	p.S461Y	WT1_ENST00000379079.2_Missense_Mutation_p.S249Y|WT1_ENST00000448076.3_Missense_Mutation_p.S461Y|WT1_ENST00000530998.1_Missense_Mutation_p.S232Y	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	393					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V380_S410del(1)|p.S249F(1)|p.S393F(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTCGGACCGGGAGAACTTTCG	0.433000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				28	162					9.45814e-24	1.5047e-23	0.004878	1	0
OR4D10	390197	broad.mit.edu	37	11	59245081	59245081	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr11:59245081A>G	ENST00000530162.1	+	1	236	c.179A>G	c.(178-180)tAt>tGt	p.Y60C		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACGCCCATGTATTTTTTGCTC	0.438000													16	188					0	0	0.003163	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767139	77767139	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr8:77767139G>A	ENST00000521891.2	+	10	8430	c.7982G>A	c.(7981-7983)aGg>aAg	p.R2661K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2616K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2616K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2635K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2616						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCGCGGGAGAGGAAAGGCCAG	0.522000										HNSCC(33;0.089)			19	89					0	0	0.006122	0	0
AC009120.6	0	broad.mit.edu	37	16	74366531	74366531	+	RNA	SNP	A	A	C	rs3743922	by1000genomes	TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr16:74366531A>C	ENST00000561921.1	-	0	455																											CCCGGATCCCATTTGCATAGC	0.602000													6	17					0	0	0.001984	0	0
CSPG4	1464	broad.mit.edu	37	15	75981484	75981484	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr15:75981484C>A	ENST00000308508.5	-	3	2014	c.1922G>T	c.(1921-1923)cGg>cTg	p.R641L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	641	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATCGCTGACCCGGAACGTCAA	0.687000													7	52					6.5536e-12	9.71932e-12	0.003080	1	0
ANKRD36	375248	broad.mit.edu	37	2	97779487	97779487	+	Missense_Mutation	SNP	G	G	A	rs2315151	by1000genomes	TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:97779487G>A	ENST00000420699.2	+	1	255	c.11G>A	c.(10-12)gGc>gAc	p.G4D	ANKRD36_ENST00000461153.2_Missense_Mutation_p.G4D	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	4										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ATGGAAGACGGCAAGCGGGAG	0.562000													4	134					0	0	0.000248	0	0
PBXIP1	57326	broad.mit.edu	37	1	154919123	154919123	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:154919123C>T	ENST00000368463.3	-	10	1098	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	PBXIP1_ENST00000368465.1_Missense_Mutation_p.A314T|PBXIP1_ENST00000539880.1_Missense_Mutation_p.A170T|PBXIP1_ENST00000542459.1_Missense_Mutation_p.A188T	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	343					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACACAGTCGGCCTCCAGCCCC	0.706000													12	21					0	0	0.001855	0	0
FSHR	2492	broad.mit.edu	37	2	49381520	49381520	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:49381520T>A	ENST00000406846.2	-	1	156	c.37A>T	c.(37-39)Agc>Tgc	p.S13C	FSHR_ENST00000304421.4_Missense_Mutation_p.S13C|FSHR_ENST00000346173.3_Missense_Mutation_p.S13C	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	13				S -> R (in Ref. 8; CAA48179).	female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAGCCCAAGCTCAGGAATGCC	0.498000									Gonadal Dysgenesis, 46 XX				19	37					0	0	0.007413	0	0
ZIC3	7547	broad.mit.edu	37	X	136649338	136649338	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chrX:136649338C>A	ENST00000287538.5	+	1	1038	c.488C>A	c.(487-489)cCc>cAc	p.P163H	ZIC3_ENST00000370606.3_Missense_Mutation_p.P163H	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	163					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					TTGCTGTTTCCCGGGCTGCAT	0.711000													13	31					0.000308642	0.000364948	0.003163	1	0
HSPA12B	116835	broad.mit.edu	37	20	3728940	3728940	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr20:3728940G>A	ENST00000254963.2	+	8	897	c.752G>A	c.(751-753)cGc>cAc	p.R251H	HSPA12B_ENST00000542646.1_Missense_Mutation_p.R85H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	251							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GTATACTGCCGCAAGCTGCGC	0.682000													11	62					0	0	0.000978	0	0
RASAL1	8437	broad.mit.edu	37	12	113553497	113553497	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr12:113553497G>A	ENST00000546530.1	-	11	1231	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	RASAL1_ENST00000261729.5_Missense_Mutation_p.R316W|RASAL1_ENST00000446861.3_Missense_Mutation_p.R316W|RASAL1_ENST00000548055.1_Missense_Mutation_p.R316W|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	316	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCCAGTCCCCGGCCAAGAAAG	0.627000													7	49					0	0	0.003080	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													7	47					0	0	0.006214	0	0
NID2	22795	broad.mit.edu	37	14	52505627	52505627	+	Missense_Mutation	SNP	G	G	A	rs148168699	byFrequency	TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr14:52505627G>A	ENST00000216286.5	-	9	2094	c.2095C>T	c.(2095-2097)Cgc>Tgc	p.R699C	NID2_ENST00000541773.1_Missense_Mutation_p.R646C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	699	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGGTGGATGCGGTAGGACCAT	0.512000													6	91					0	0	0.001168	0	0
IQGAP2	10788	broad.mit.edu	37	5	75996968	75996968	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr5:75996968G>T	ENST00000274364.6	+	34	4732	c.4435G>T	c.(4435-4437)Gtg>Ttg	p.V1479L	IQGAP2_ENST00000396234.3_Missense_Mutation_p.V975L|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000502745.1_Missense_Mutation_p.V975L|IQGAP2_ENST00000379730.3_Missense_Mutation_p.V981L	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1479					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGCGAAGCCAGTGAAGTACAC	0.408000													10	59					2.17888e-05	2.7236e-05	0.006214	1	0
PELI2	57161	broad.mit.edu	37	14	56755184	56755184	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr14:56755184C>G	ENST00000267460.4	+	4	625	c.339C>G	c.(337-339)gaC>gaG	p.D113E		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	113					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GCCCTATCGACTTCGTTGTCA	0.478000													10	31					0	0	0.000978	0	0
CNTROB	116840	broad.mit.edu	37	17	7851025	7851025	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr17:7851025G>T	ENST00000380262.3	+	14	3055	c.2130G>T	c.(2128-2130)aaG>aaT	p.K710N	CNTROB_ENST00000565740.1_Missense_Mutation_p.K710N|CNTROB_ENST00000563694.1_Missense_Mutation_p.K710N|CNTROB_ENST00000380255.3_3'UTR	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	710	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	p.K710N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AGGGCCTCAAGAATTTTTTGC	0.542000													12	91					1.08611e-07	1.46207e-07	0.000978	1	0
RIMS2	9699	broad.mit.edu	37	8	105261795	105261795	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr8:105261795C>T	ENST00000507740.1	+	20	3348	c.3112C>T	c.(3112-3114)Cca>Tca	p.P1038S	RIMS2_ENST00000262231.10_Missense_Mutation_p.P1063S|RIMS2_ENST00000406091.3_Missense_Mutation_p.P1224S|RIMS2_ENST00000339750.2_Missense_Mutation_p.P160S|RIMS2_ENST00000436393.2_Missense_Mutation_p.P1242S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1286					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTGTAAAACCAGGTTCCAA	0.403000										HNSCC(12;0.0054)			4	43					0	0	0.000248	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651344	84651344	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr15:84651344G>C	ENST00000286744.5	+	21	3188	c.2964G>C	c.(2962-2964)caG>caC	p.Q988H	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Q988H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	988	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTCTGCACAGGAAACAGTTG	0.567000													38	85					0	0	0.007835	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735552	55735552	+	Missense_Mutation	SNP	T	T	G	rs140763949		TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr11:55735552T>G	ENST00000312345.2	-	1	438	c.388A>C	c.(388-390)Aaa>Caa	p.K130Q		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATGCAGACTTTGTGGTTCATC	0.453000													7	33					0	0	0.008291	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													3	74					0	0	0.004672	0	0
TAP2	6891	broad.mit.edu	37	6	32803552	32803552	+	Splice_Site	SNP	T	T	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr6:32803552T>A	ENST00000374897.2	-	4	740		c.e4-2		TAP2_ENST00000374899.4_Splice_Site|TAP2_ENST00000452392.2_Splice_Site	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)						antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GACAGTGAGCTGTGGGGTAGG	0.582000													7	72					0	0	0.006214	0	0
NAA25	80018	broad.mit.edu	37	12	112471045	112471045	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr12:112471045G>A	ENST00000261745.4	-	23	3036	c.2788C>T	c.(2788-2790)Ctc>Ttc	p.L930F		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	930						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACCGGTGAGAGAGAAGTGTCT	0.368000													16	66					0	0	0.004990	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180673	142180673	+	RNA	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr7:142180673C>A	ENST00000390368.2	-	0	251																											GAATCAGCCTCAGCCCCATGC	0.512000													25	529					4.87955e-14	7.42541e-14	0.005443	1	0
SLC6A7	6534	broad.mit.edu	37	5	149578887	149578887	+	Silent	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr5:149578887C>A	ENST00000230671.2	+	5	1052	c.681C>A	c.(679-681)atC>atA	p.I227I	SLC6A7_ENST00000524041.1_Silent_p.I227I	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	227						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCTGGGTCATCGTGTTCCTCT	0.642000													23	64					1.22574e-08	1.70241e-08	0.002299	1	0
CCZ1B	221960	broad.mit.edu	37	7	6862974	6862974	+	Silent	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr7:6862974C>T	ENST00000316731.8	-	5	980	c.408G>A	c.(406-408)tcG>tcA	p.S136S	CCZ1B_ENST00000538180.1_5'UTR	NM_198097.3	NP_932765.1	P86790	CCZ1L_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	136						lysosomal membrane											GCCGCAGCACCGAGCTATAAA	0.493000													11	97					0	0	0.007413	0	0
CLUL1	27098	broad.mit.edu	37	18	641480	641480	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr18:641480G>T	ENST00000581619.1	+	7	2070	c.1223G>T	c.(1222-1224)gGc>gTc	p.G408V	CLUL1_ENST00000579494.1_Missense_Mutation_p.G383V|CLUL1_ENST00000338387.7_Missense_Mutation_p.G383V|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000540035.1_Missense_Mutation_p.G435V|CLUL1_ENST00000400606.2_Missense_Mutation_p.G383V			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	383					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GGGCAATTTGGCTGGGTGTCT	0.493000													11	94					5.50884e-06	6.98584e-06	0.001368	1	0
PBXIP1	57326	broad.mit.edu	37	1	154919124	154919124	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:154919124C>A	ENST00000368463.3	-	10	1097	c.1026G>T	c.(1024-1026)gaG>gaT	p.E342D	PBXIP1_ENST00000368465.1_Missense_Mutation_p.E313D|PBXIP1_ENST00000539880.1_Missense_Mutation_p.E169D|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E187D	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	342					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACAGTCGGCCTCCAGCCCCT	0.701000													11	22					4.3838e-07	5.81186e-07	0.001855	1	0
CEP250	11190	broad.mit.edu	37	20	34078568	34078568	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr20:34078568A>G	ENST00000397527.1	+	21	3412	c.2692A>G	c.(2692-2694)Atg>Gtg	p.M898V	RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Intron	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	898	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAGACAGAAATGGAGGCCAT	0.572000													7	94					0	0	0.003080	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs140467724	by1000genomes	TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147																											CCCATCTGGTTTTTGAGTTTG	0.547000													5	255					0	0	0.000602	0	0
ACAP2	23527	broad.mit.edu	37	3	195000115	195000115	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr3:195000115A>G	ENST00000326793.6	-	23	2509	c.2279T>C	c.(2278-2280)aTg>aCg	p.M760T	ACAP2_ENST00000472860.1_5'UTR	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	760					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ATTGGATGCCATTTGGGAAAA	0.313000													9	35					0	0	0.008291	0	0
KATNB1	10300	broad.mit.edu	37	16	57775655	57775655	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr16:57775655G>T	ENST00000379661.3	+	3	489	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	33	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CAAAGCCTCCGGGCGGCTGCT	0.647000													9	40					0.000274275	0.000328754	0.004482	1	0
OR2T33	391195	broad.mit.edu	37	1	248436327	248436327	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:248436327T>C	ENST00000318021.2	-	1	811	c.790A>G	c.(790-792)Agg>Ggg	p.R264G		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			TTAGTGGACCTATGGGATTTG	0.483000													41	161					0	0	0.008740	0	0
TEX2	55852	broad.mit.edu	37	17	62238285	62238285	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr17:62238285T>A	ENST00000258991.3	-	8	2785	c.2701A>T	c.(2701-2703)Att>Ttt	p.I901F	TEX2_ENST00000583097.1_Missense_Mutation_p.I894F|TEX2_ENST00000584379.1_Missense_Mutation_p.I894F			Q8IWB9	TEX2_HUMAN	testis expressed 2	894					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TCCAAATCAATCCAGAGTCCT	0.363000													18	97					0	0	0.004990	0	0
CSMD1	64478	broad.mit.edu	37	8	2824215	2824215	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr8:2824215C>A	ENST00000602557.1	-	59	9535	c.8980G>T	c.(8980-8982)Gat>Tat	p.D2994Y	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000520002.1_Missense_Mutation_p.D2994Y|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.D2993Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2994	Sushi 23.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGAATGCCATCACTACTGACA	0.552000													4	20					0.00198382	0.00223979	0.001984	1	0
TDRD7	23424	broad.mit.edu	37	9	100245485	100245485	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr9:100245485C>T	ENST00000355295.4	+	15	3062	c.2767C>T	c.(2767-2769)Cac>Tac	p.H923Y	TDRD7_ENST00000422139.2_Missense_Mutation_p.H849Y|TDRD7_ENST00000540902.1_Missense_Mutation_p.H243Y	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	923	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGTGGCCTGTCACCCAGGCTA	0.512000													14	60					0	0	0.006122	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953771	8953771	+	Silent	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr19:8953771C>T	ENST00000595891.1	+	3	648	c.417C>T	c.(415-417)atC>atT	p.I139I	MBD3L1_ENST00000305625.2_Silent_p.I139I			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GAGTGGGTATCTCGCAGCTCC	0.522000													5	27					0	0	0.000602	0	0
THSD7B	80731	broad.mit.edu	37	2	137814267	137814267	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:137814267G>C	ENST00000409968.1	+	3	595	c.417G>C	c.(415-417)caG>caC	p.Q139H	THSD7B_ENST00000272643.3_Missense_Mutation_p.Q139H|THSD7B_ENST00000413152.2_Missense_Mutation_p.Q108H					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATGGACTGCAGCACCGGATGG	0.552000													15	93					0	0	0.003163	0	0
PRSS37	136242	broad.mit.edu	37	7	141537006	141537006	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr7:141537006A>C	ENST00000350549.3	-	4	844	c.473T>G	c.(472-474)aTg>aGg	p.M158R	PRSS37_ENST00000438520.1_Missense_Mutation_p.M158R	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	158	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TCGATCAGACATCACGGGGGC	0.453000													7	70					0	0	0.004482	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565042	58565042	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr19:58565042C>T	ENST00000282326.1	+	6	1097	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	284					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGTAGTGCCGCGTGGGCCCCG	0.627000													8	69					0	0	0.003080	0	0
ZNF248	57209	broad.mit.edu	37	10	38121171	38121171	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr10:38121171C>A	ENST00000395867.3	-	6	1662	c.1112G>T	c.(1111-1113)cGg>cTg	p.R371L	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.R371L|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GTGAGCTCTCCGAAGCTGGGT	0.418000													15	92					3.52763e-06	4.5061e-06	0.004990	1	0
GPR180	160897	broad.mit.edu	37	13	95273342	95273342	+	Silent	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr13:95273342C>T	ENST00000376958.4	+	6	772	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	249						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TTTTTGACATCGCTTCCCAAA	0.343000													4	62					0	0	0.000248	0	0
PSG8	440533	broad.mit.edu	37	19	43258571	43258571	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr19:43258571G>T	ENST00000404209.4	-	5	1253	c.1157C>A	c.(1156-1158)aCa>aAa	p.T386K	PSG8_ENST00000406636.3_Missense_Mutation_p.T264K|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Missense_Mutation_p.T293K|PSG8_ENST00000306511.4_Missense_Mutation_p.T386K	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	386	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCTATGCTTTGTAGTAATTTG	0.468000													56	249					1.45723e-30	2.36125e-30	0.003610	1	0
POTEC	388468	broad.mit.edu	37	18	14542792	14542792	+	Silent	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr18:14542792G>T	ENST00000358970.5	-	1	353	c.354C>A	c.(352-354)ggC>ggA	p.G118G	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	118										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTCCCCAAGCGCCCACGTTGC	0.597000													14	200					1.05317e-09	1.5107e-09	0.002450	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84706565	84706565	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr15:84706565G>T	ENST00000567476.1	+	30	5259	c.5037G>T	c.(5035-5037)ttG>ttT	p.L1679F	ADAMTSL3_ENST00000286744.5_3'UTR			P82987	ATL3_HUMAN	ADAMTS-like 3	0	PLAC.		R -> H (in dbSNP:rs11857906).			proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATAAACCTTTGGAGGGGTCAT	0.378000													20	28					7.41877e-09	1.03863e-08	0.001882	1	0
ZBTB4	57659	broad.mit.edu	37	17	7365687	7365687	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr17:7365687C>A	ENST00000311403.4	-	4	2953	c.2614G>T	c.(2614-2616)Gtg>Ttg	p.V872L	ZBTB4_ENST00000380599.4_Missense_Mutation_p.V872L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AATTCCTGCACAGGTGGGTAT	0.627000													9	46					1.58986e-06	2.07631e-06	0.008291	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768513	77768513	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr8:77768513C>A	ENST00000521891.2	+	10	9804	c.9356C>A	c.(9355-9357)cCg>cAg	p.P3119Q	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3074Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3074Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3093Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3074	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P3103L(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCTCCTTGCCGGGATTTCCA	0.512000										HNSCC(33;0.089)			12	41					0.00010058	0.000122233	0.001368	1	0
OTOS	150677	broad.mit.edu	37	2	241078674	241078674	+	Silent	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:241078674G>T	ENST00000391989.2	-	5	413	c.183C>A	c.(181-183)ccC>ccA	p.P61P	OTOS_ENST00000319460.1_Silent_p.P61P			Q8NHW6	OTOSP_HUMAN	otospiralin	61						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CCTCGATCTGGGGGTAGGCCC	0.622000													11	114					1.58986e-06	2.07631e-06	0.008291	1	0
GJA5	2702	broad.mit.edu	37	1	147230940	147230940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:147230940C>T	ENST00000271348.2	-	2	568	c.407G>A	c.(406-408)tGg>tAg	p.W136*	GJA5_ENST00000369237.1_Nonsense_Mutation_p.W136*	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	136					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCCTTCCTCCCAGCAGGACAG	0.602000													8	138					0	0	0.004482	0	0
KIAA1683	80726	broad.mit.edu	37	19	18375896	18375896	+	Silent	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr19:18375896C>T	ENST00000392413.3	-	3	2669	c.2454G>A	c.(2452-2454)caG>caA	p.Q818Q	KIAA1683_ENST00000600359.2_Silent_p.Q772Q|KIAA1683_ENST00000600328.2_Silent_p.Q818Q	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	818						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGGTCCCCCCTGAGTGGTCT	0.687000													9	134					0	0	0.008291	0	0
PPIG	9360	broad.mit.edu	37	2	170493582	170493582	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:170493582G>T	ENST00000260970.3	+	14	2034	c.1814G>T	c.(1813-1815)cGa>cTa	p.R605L	PPIG_ENST00000448752.2_Missense_Mutation_p.R605L|PPIG_ENST00000409714.3_Missense_Mutation_p.R590L	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	605	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R605Q(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GGACGGTCACGAAGCCGAGAG	0.488000													5	26					2.7689e-08	3.81541e-08	0.001984	1	0
TTN	7273	broad.mit.edu	37	2	179583959	179583959	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:179583959C>A	ENST00000589042.1	-	83	24382	c.24158G>T	c.(24157-24159)gGc>gTc	p.G8053V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G7736V|TTN_ENST00000342992.6_Missense_Mutation_p.G6809V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7736	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTGTATATGCCTGTGTCGGA	0.502000													6	107					0.00116845	0.00134525	0.001168	1	0
TTC25	83538	broad.mit.edu	37	17	40101407	40101407	+	RNA	SNP	A	A	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr17:40101407A>C	ENST00000591658.1	+	0	1144							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CCTGATGCAAAATCGAGAGCC	0.473000													3	14					0	0	0.004672	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													4	73					0	0	0.001168	0	0
SPTA1	6708	broad.mit.edu	37	1	158609780	158609780	+	Silent	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:158609780C>A	ENST00000368148.3	-	34	4935	c.4755G>T	c.(4753-4755)ctG>ctT	p.L1585L	SPTA1_ENST00000368147.3_Silent_p.L1585L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1585					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATGTTCCTTCAGCTGTTCCA	0.478000													23	104					4.26978e-12	6.38642e-12	0.003330	1	0
KRT7	3855	broad.mit.edu	37	12	52629142	52629142	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr12:52629142C>A	ENST00000331817.5	+	2	711	c.528C>A	c.(526-528)ttC>ttA	p.F176L		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	176	Coil 1B.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		TGGAGGACTTCAAGAATAAGT	0.622000													10	36					0.000673444	0.000780481	0.008291	1	0
CDH7	1005	broad.mit.edu	37	18	63430252	63430252	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr18:63430252G>T	ENST00000536984.2	+	2	868	c.174G>T	c.(172-174)gaG>gaT	p.E58D	CDH7_ENST00000323011.3_Missense_Mutation_p.E58D|CDH7_ENST00000581601.1_3'UTR|CDH7_ENST00000397968.2_Missense_Mutation_p.E58D			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	58	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTGTGCTGGAGGAATACATGG	0.458000													12	48					4.36969e-10	6.3198e-10	0.001855	1	0
PRIM2	5558	broad.mit.edu	37	6	57398228	57398228	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr6:57398228C>A	ENST00000607273.1	+	10	1018	c.931C>A	c.(931-933)Cta>Ata	p.L311I	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	311					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GCAGTATGTCCTATTTCTGAA	0.403000													6	188					5.4927e-09	7.7518e-09	0.004482	1	0
PLEK	5341	broad.mit.edu	37	2	68615552	68615552	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr2:68615552A>G	ENST00000234313.7	+	6	870	c.691A>G	c.(691-693)Agt>Ggt	p.S231G		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	231					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGAGAATTCCAGTGATGATGA	0.458000													6	138					0	0	0.001984	0	0
ECM1	1893	broad.mit.edu	37	1	150485219	150485219	+	Silent	SNP	G	G	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:150485219G>C	ENST00000369047.4	+	9	1448	c.1323G>C	c.(1321-1323)ctG>ctC	p.L441L	ECM1_ENST00000369049.4_Silent_p.L468L|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Silent_p.L316L	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	441					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTCCTGGGCTGATCCACAACA	0.522000													26	310					0	0	0.001786	0	0
TONSL	4796	broad.mit.edu	37	8	145661703	145661703	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr8:145661703T>C	ENST00000409379.3	-	17	2142	c.2113A>G	c.(2113-2115)Agc>Ggc	p.S705G	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	705					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGTCTAGTGCTATTAGAGGGG	0.652000													6	90					0	0	0.001984	0	0
CCDC57	284001	broad.mit.edu	37	17	80059641	80059641	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr17:80059641T>C	ENST00000392347.1	-	17	2704	c.2668A>G	c.(2668-2670)Aca>Gca	p.T890A	CCDC57_ENST00000389641.4_Missense_Mutation_p.T890A	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	890										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GAGGCTCCTGTGGTCTTGGCC	0.612000													16	105					0	0	0.004007	0	0
ZNF420	147923	broad.mit.edu	37	19	37619025	37619025	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr19:37619025C>T	ENST00000337995.3	+	5	1347	c.1132C>T	c.(1132-1134)Ctt>Ttt	p.L378F	ZNF420_ENST00000304239.7_Missense_Mutation_p.L378F|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGCTCACAACTTACTCAACA	0.418000													8	83					0	0	0.004482	0	0
AFF2	2334	broad.mit.edu	37	X	148037518	148037518	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chrX:148037518C>A	ENST00000370460.2	+	11	2422	c.1943C>A	c.(1942-1944)cCa>cAa	p.P648Q	AFF2_ENST00000342251.3_Missense_Mutation_p.P615Q|AFF2_ENST00000286437.5_Missense_Mutation_p.P289Q|AFF2_ENST00000370457.5_Missense_Mutation_p.P615Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	648					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCCAAACCAAATATTACC	0.478000													48	48					6.08268e-21	9.58981e-21	0.003610	1	0
UBE3B	89910	broad.mit.edu	37	12	109936113	109936113	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr12:109936113G>A	ENST00000342494.3	+	11	1490	c.895G>A	c.(895-897)Gat>Aat	p.D299N	UBE3B_ENST00000280774.5_Missense_Mutation_p.D299N|UBE3B_ENST00000434735.2_Missense_Mutation_p.D299N	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	299					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCGATGCCGTGATGTATGTGA	0.438000													23	141					0	0	0.003954	0	0
MYOF	26509	broad.mit.edu	37	10	95216684	95216684	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr10:95216684C>A	ENST00000371501.4	-	2	221	c.99G>T	c.(97-99)aaG>aaT	p.K33N	MYOF_ENST00000371489.1_Missense_Mutation_p.K33N|MYOF_ENST00000371488.3_Missense_Mutation_p.K33N|MYOF_ENST00000359263.4_Missense_Mutation_p.K33N|MYOF_ENST00000358334.5_Missense_Mutation_p.K33N|MYOF_ENST00000371502.4_Missense_Mutation_p.K33N			Q9NZM1	MYOF_HUMAN	myoferlin	33	C2 1.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTTTGTTTTCTTTTTCTCAT	0.313000													5	46					1.23904e-05	1.55994e-05	0.000602	1	0
SPTA1	6708	broad.mit.edu	37	1	158609781	158609781	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:158609781A>G	ENST00000368148.3	-	34	4934	c.4754T>C	c.(4753-4755)cTg>cCg	p.L1585P	SPTA1_ENST00000368147.3_Missense_Mutation_p.L1585P	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1585					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATGTTCCTTCAGCTGTTCCAG	0.483000													22	104					0	0	0.002780	0	0
CSMD1	64478	broad.mit.edu	37	8	3216716	3216716	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr8:3216716C>A	ENST00000602557.1	-	22	3820	c.3265G>T	c.(3265-3267)Ggg>Tgg	p.G1089W	CSMD1_ENST00000400186.3_Missense_Mutation_p.G1089W|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1089W|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1089W|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1088W|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1088W|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1088W			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1089	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGGCGGCCCCCACCCAGGCAG	0.557000													12	113					0.00316338	0.00354866	0.003163	1	0
RBM15	64783	broad.mit.edu	37	1	110882201	110882201	+	Silent	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr1:110882201C>T	ENST00000369784.3	+	1	1074	c.174C>T	c.(172-174)tcC>tcT	p.S58S	RBM15_ENST00000487146.2_Silent_p.S58S|RBM15_ENST00000602849.1_Silent_p.S58S	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	58					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAAACGCTCCCGTGGTGGTG	0.652000			T	MKL1	acute megakaryocytic leukemia								11	48					0	0	0.000978	0	0
OR4M1	441670	broad.mit.edu	37	14	20248875	20248875	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr14:20248875T>A	ENST00000315957.4	+	1	475	c.394T>A	c.(394-396)Tat>Aat	p.Y132N		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACCCCTCCACTATGCTACCAT	0.507000													20	410					0	0	0.002299	0	0
OR2B2	81697	broad.mit.edu	37	6	27879450	27879450	+	Silent	SNP	T	T	G	rs147063988	by1000genomes	TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr6:27879450T>G	ENST00000303324.2	-	1	724	c.648A>C	c.(646-648)atA>atC	p.I216I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I216I(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AAGCATACGATATAAGGATGA	0.443000													3	47					0	0	0.000602	0	0
KCNAB1	7881	broad.mit.edu	37	3	156175266	156175266	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr3:156175266G>A	ENST00000302490.8	+	4	1199	c.328G>A	c.(328-330)Gcc>Acc	p.A110T	KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000490337.1_Missense_Mutation_p.A128T|KCNAB1_ENST00000471742.1_Missense_Mutation_p.A117T|KCNAB1_ENST00000389634.5_Missense_Mutation_p.A110T|KCNAB1_ENST00000389636.5_Missense_Mutation_p.A128T	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	128						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATGACCATCGCCTATGAAAG	0.473000													14	97					0	0	0.004007	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	49					0	0	0.000248	0	0
LRRC30	339291	broad.mit.edu	37	18	7231146	7231146	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr18:7231146A>G	ENST00000383467.2	+	1	24	c.10A>G	c.(10-12)Agg>Ggg	p.R4G		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	4										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AATGGGGGCCAGGCAGTCAAG	0.607000													7	80					0	0	0.003080	0	0
DOCK2	1794	broad.mit.edu	37	5	169126453	169126453	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr5:169126453G>T	ENST00000256935.8	+	12	1203	c.1123G>T	c.(1123-1125)Gga>Tga	p.G375*		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	375					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGGGACAGTGGAGGGCAAGG	0.517000													15	65					6.72482e-11	9.80703e-11	0.003163	1	0
PURA	5813	broad.mit.edu	37	5	139493896	139493898	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr5:139493896_139493898delGGC	ENST00000331327.3	+	1	189_191	c.130_132delGGC	c.(130-132)del	p.G49del	PURA_ENST00000505703.1_3'UTR	NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	49	Gly-rich.				DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	p.G44delG(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			cggcggcagtggcggcggcggcg	0.778													2	4	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976964	119976964	+	Frame_Shift_Del	DEL	G	G	-	rs149649522		TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr9:119976964delG	ENST00000313400.4	-	3	788	c.688delC	c.(688-690)agfs	p.Q230fs	ASTN2_ENST00000361209.2_Frame_Shift_Del_p.Q230fs|ASTN2_ENST00000373996.3_Frame_Shift_Del_p.Q230fs|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	230						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAACGTCGCTGGGCGTACAGC	0.607													7	60	---	---	---	---					
FLT3	2322	broad.mit.edu	37	13	28589835	28589835	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr13:28589835delG	ENST00000380982.4	-	21	2635	c.2554delC	c.(2554-2556)gtfs	p.R852fs	FLT3_ENST00000241453.7_Frame_Shift_Del_p.R849fs|FLT3_ENST00000537084.1_Frame_Shift_Del_p.R808fs			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	849	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			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)	ACAGGCAGACGGGCCTGTGGA	0.413			"""Mis, O"""		"""AML, ALL"""								13	61	---	---	---	---					
EIF2AK4	440275	broad.mit.edu	37	15	40268969	40268969	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr15:40268969delG	ENST00000263791.5	+	12	2216	c.2173delG	c.(2173-2175)ccfs	p.A725fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.A725fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	725	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCGTTTCCCCGCCACCGGCCC	0.711													10	89	---	---	---	---					
SCIMP	388325	broad.mit.edu	37	17	5124612	5124612	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr17:5124612delT	ENST00000574081.1	-	3	283	c.179delA	c.(178-180)ccfs	p.H60fs	SCIMP_ENST00000571800.1_Frame_Shift_Del_p.H53fs|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000399600.4_Frame_Shift_Del_p.H53fs|SCIMP_ENST00000574297.1_Frame_Shift_Del_p.H60fs|RP11-333E1.1_ENST00000575601.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN	SLP adaptor and CSK interacting membrane protein	60						integral to membrane											TACTTGCTTGTGTTTCAGGGG	0.423													8	95	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1207136	1207137	+	Frame_Shift_Ins	INS	-	-	CTCCT			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chr19:1207136_1207137insCTCCT	ENST00000326873.7	+	1	1397_1398	c.224_225insCTCCT	c.(223-225)agcfs	p.S75fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	75	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.R75M(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGCAGGAGGGCCGTCAAGA	0.619		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			9	18	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47041355	47041355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6983-01A-11D-1945-08	TCGA-55-6983-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d4d37e4-0f9b-4f44-bda6-f4c280067d72	f71b30ee-ce4c-4a56-9cf9-ad2e139a5689	g.chrX:47041355delC	ENST00000377604.3	+	16	2441	c.1699delC	c.(1699-1701)ccfs	p.P567fs	RBM10_ENST00000345781.6_Frame_Shift_Del_p.P490fs|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Frame_Shift_Del_p.P489fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	567	Tyr-rich.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCTAGCTGTTCCCGACGTCTC	0.577													20	13	---	---	---	---					
