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
SFMBT2	57713	broad.mit.edu	37	10	7262417	7262417	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:7262417G>A	ENST00000361972.4	-	11	1376	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	SFMBT2_ENST00000397167.1_Missense_Mutation_p.S429F	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	429					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACTCACAACGGAGGCCACACA	0.517000													40	155					0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28472193	28472193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:28472193C>T	ENST00000361902.1	-	5	591	c.542G>A	c.(541-543)tGg>tAg	p.W181*	GPX6_ENST00000474923.1_Missense_Mutation_p.G148R	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	181					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CTCAAAGTTCCAGCGGATATC	0.527000													3	41					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683191	6683191	+	Missense_Mutation	SNP	G	G	A	rs143419082		TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:6683191G>A	ENST00000321535.4	+	2	134	c.4G>A	c.(4-6)Gac>Aac	p.D2N		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	2										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TTCCTGGATGGACGAAGAAAG	0.507000													3	47					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32560521	32560521	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:32560521G>A	ENST00000319778.6	-	13	2632	c.2330C>T	c.(2329-2331)tCc>tTc	p.S777F	EPC1_ENST00000263062.8_Missense_Mutation_p.S800F|EPC1_ENST00000375110.2_Missense_Mutation_p.S727F	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	800					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGGGACCTTGGAAACTTGACA	0.433000													21	92					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934293	56934293	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:56934293C>T	ENST00000333201.9	+	5	476	c.266C>T	c.(265-267)tCa>tTa	p.S89L	ZNF583_ENST00000291598.7_Missense_Mutation_p.S89L	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AGTGAATTTTCATCAAAGCAA	0.313000													4	31					0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50373952	50373952	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:50373952G>A	ENST00000394688.3	-	6	796	c.637C>T	c.(637-639)Cca>Tca	p.P213S	BRD7_ENST00000394689.2_Missense_Mutation_p.P213S			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	213	Bromo.				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ATGGTCTCTGGTTTATTGTAA	0.333000													8	62					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165584552	165584552	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:165584552C>T	ENST00000375458.2	-	4	809	c.588G>A	c.(586-588)caG>caA	p.Q196Q	COBLL1_ENST00000194871.6_Silent_p.Q249Q|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000342193.4_Silent_p.Q196Q|COBLL1_ENST00000392717.2_Silent_p.Q234Q|COBLL1_ENST00000409184.3_Silent_p.Q234Q	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	234										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CAAGAGGCTCCTGCGATTGAT	0.373000													9	62					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75843624	75843624	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:75843624G>A	ENST00000322507.8	-	33	5923	c.5614C>T	c.(5614-5616)Cgt>Tgt	p.R1872C	COL12A1_ENST00000345356.6_Missense_Mutation_p.R708C|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1872C|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1872C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1872	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTGTACTGACGAGGATTTCCC	0.448000													4	61					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737548	13737548	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:13737548C>T	ENST00000265104.4	-	66	11372	c.11268G>A	c.(11266-11268)agG>agA	p.R3756R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3756	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTCCTTCATCCTTCTTTTGT	0.373000									Kartagener syndrome				6	48					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813502	106813502	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:106813502G>A	ENST00000407775.2	+	8	1442	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E266K|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E266K|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E129K	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	398					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGTGACATGGAACACTCTCC	0.502000													13	65					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112194136	112194136	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:112194136G>A	ENST00000455480.2	+	22	3309		c.e22-1		ACAD10_ENST00000313698.4_Splice_Site|RP11-162P23.2_ENST00000546840.2_Intron	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10								acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GTGTCTGCCAGGCCTTTGGAG	0.632000													3	18					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043605	20043605	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:20043605C>T	ENST00000570682.1	-	2	814	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	172						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATGTAGTCTTCAGTCCAGATG	0.517000													7	28					0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902842	4902842	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:4902842G>A	ENST00000381781.2	-	1	37	c.38C>T	c.(37-39)cCc>cTc	p.P13L		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	13					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AGACATGGGGGGTTGGGGGGT	0.527000													17	38					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691266	153691266	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:153691266C>T	ENST00000304337.2	-	2	1711	c.891G>A	c.(889-891)aaG>aaA	p.K297K		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	297	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ATTTTAGGTTCTTTACCTCTG	0.353000													25	100					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255196	140255196	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:140255196C>T	ENST00000398631.2	+	1	139	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTGGGCCGCATCGCTCA	0.652000													15	67					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17766051	17766051	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:17766051C>T	ENST00000581396.1	-	10	1142	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	TOM1L2_ENST00000542206.1_Missense_Mutation_p.R251H|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R301H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.R346H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R354H|TOM1L2_ENST00000379504.3_Missense_Mutation_p.R399H|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R354H|TOM1L2_ENST00000478943.1_Missense_Mutation_p.R132H	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	399					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ATACGTCTTGCGCTGCTCAGC	0.527000													4	198					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	22					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1730378	1730378	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:1730378C>T	ENST00000313288.4	+	4	1355	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	417						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAACTTCATCCCGTTCGGAGG	0.622000													13	48					0	0	1	0	0
TSSK6	83983	broad.mit.edu	37	19	19626088	19626088	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:19626088G>A	ENST00000360913.3	-	1	750	c.149C>T	c.(148-150)cCg>cTg	p.P50L	TSSK6_ENST00000585580.3_Missense_Mutation_p.P50L			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	50	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GACGAAGTCCGGGGGCGCTCG	0.612000													9	32					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18691963	18691963	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:18691963G>A	ENST00000251296.1	+	6	1170	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	263						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCCAACCACAGAGAACATACC	0.672000													27	116					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325379	31325379	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr18:31325379G>A	ENST00000269197.5	+	12	5567	c.5567G>A	c.(5566-5568)gGg>gAg	p.G1856E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1856					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GATGTTAAAGGGGTGCCTTGT	0.458000													11	175					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141722068	141722068	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:141722068G>A	ENST00000475668.2	+	7	765	c.710_splice	c.e7-1	p.L237_splice	MGAM_ENST00000549489.2_Splice_Site_p.L237_splice			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	237	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGTGTCTAGGTTTGACTCGA	0.517000													7	45					0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183855532	183855532	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:183855532C>T	ENST00000273783.3	+	3	567	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F	EIF2B5_ENST00000444495.1_Missense_Mutation_p.L149F|EIF2B5_ENST00000498831.1_3'UTR	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	149					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTCTGACTTTCTTCTGGTGTA	0.463000													7	24					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509799	106509799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:106509799G>A	ENST00000359195.3	+	2	2103	c.1793G>A	c.(1792-1794)tGg>tAg	p.W598*	PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.W598*|PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.W598*	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	598					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCAGTGAAATGGGGACAGCAA	0.438000													14	82					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31152904	31152904	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:31152904G>A	ENST00000268281.4	-	12	1845	c.1787C>T	c.(1786-1788)cCa>cTa	p.P596L	PRSS36_ENST00000569305.1_Missense_Mutation_p.P591L|PRSS36_ENST00000418068.2_Missense_Mutation_p.P596L	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	596	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GACCCCCACTGGAGCAGCCTC	0.682000													4	51					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782973	80782973	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:80782973T>C	ENST00000466387.1	+	16	2420	c.1696T>C	c.(1696-1698)Tat>Cat	p.Y566H	CTNNA2_ENST00000402739.4_Missense_Mutation_p.Y566H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Y566H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Y600H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Y566H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Y245H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Y566H			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	566					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCTGGGGTTTATACTGAGAA	0.473000													14	87					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3629315	3629315	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:3629315G>A	ENST00000325418.4	+	1	2105	c.2086G>A	c.(2086-2088)Gat>Aat	p.D696N	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	696	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										CTTGGAACGGGATGGGATTGT	0.502000													8	57					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61102941	61102941	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:61102941T>C	ENST00000196169.3	+	11	2091	c.1303T>C	c.(1303-1305)Tat>Cat	p.Y435H	TDRD3_ENST00000535286.1_Missense_Mutation_p.Y528H|TDRD3_ENST00000377894.2_Missense_Mutation_p.Y435H|TDRD3_ENST00000377881.2_Missense_Mutation_p.Y435H	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	435					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ATCTGTAGATTATAATAATCA	0.338000													11	27					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114817546	114817546	+	Silent	SNP	G	G	A	rs34594581		TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:114817546G>A	ENST00000334062.7	-	3	379	c.258C>T	c.(256-258)ttC>ttT	p.F86F	RASA3_ENST00000542651.1_Silent_p.F86F|RASA3_ENST00000389544.4_Silent_p.F54F	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	86	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AATCCCTCCGGAAAACGTCTC	0.453000													5	30					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11337309	11337309	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:11337309G>A	ENST00000315872.6	-	27	3893	c.3445C>T	c.(3445-3447)Cca>Tca	p.P1149S	ROCK2_ENST00000401753.1_Missense_Mutation_p.P906S	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1149					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCCATACCTGGAAACCCATCA	0.418000													11	48					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678524	100678524	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:100678524G>A	ENST00000306151.4	+	3	3891	c.3827G>A	c.(3826-3828)gGa>gAa	p.G1276E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1276	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTAGTGAAGGAAGTACTCTA	0.502000													53	270					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15652223	15652223	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:15652223A>C	ENST00000262041.5	-	3	1113	c.704T>G	c.(703-705)tTc>tGc	p.F235C		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	235					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CCTGTTTTGGAACCAGACTTT	0.418000													9	66					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626216	142626216	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:142626216C>T	ENST00000265310.1	-	5	836		c.e5-1		TRPV5_ENST00000442623.1_Splice_Site	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5						protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGGTGCTCCCCTGTGGACACA	0.597000													4	17					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622000													5	267					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51263088	51263088	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:51263088C>T	ENST00000266037.9	+	15	1284	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	421	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGTGATATCCGCAATGACCT	0.463000													20	57					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39282993	39282993	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:39282993G>A	ENST00000425054.2	-	5	875	c.876C>T	c.(874-876)ctC>ctT	p.L292L	KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000373229.5_Intron	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCCCGGGATGGAGTGGTCTAA	0.567000													3	14					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192225446	192225446	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:192225446G>A	ENST00000392318.3	+	8	899	c.652G>A	c.(652-654)Gag>Aag	p.E218K	MYO1B_ENST00000304164.4_Missense_Mutation_p.E218K|MYO1B_ENST00000339514.4_Missense_Mutation_p.E218K|MYO1B_ENST00000392316.1_Missense_Mutation_p.E218K	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	218	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGCCTCTGAAGAGCTCCTCAG	0.448000													6	90					0	0	1	0	0
C9orf117	286207	broad.mit.edu	37	9	130473571	130473571	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:130473571G>A	ENST00000373295.2	+	4	691	c.651G>A	c.(649-651)acG>acA	p.T217T		NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	217										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGGTGACCACGAACCGGATGT	0.577000													4	23					0	0	1	0	0
MAPK8	5599	broad.mit.edu	37	10	49628257	49628257	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:49628257C>T	ENST00000374189.1	+	6	691	c.510C>T	c.(508-510)ttC>ttT	p.F170F	MAPK8_ENST00000360332.3_Silent_p.F170F|MAPK8_ENST00000374182.3_Silent_p.F170F|MAPK8_ENST00000374174.1_Silent_p.F170F|MAPK8_ENST00000395611.3_Silent_p.F170F			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	170	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TTCTTGACTTCGGTCTGGCCA	0.413000													7	60					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34192733	34192733	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:34192733G>A	ENST00000297161.2	+	16	2280	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N	BMPER_ENST00000426693.1_Missense_Mutation_p.D636N	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	636	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGCTGTGTACGATACCTGTGG	0.507000													20	124					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39873121	39873121	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:39873121G>A	ENST00000502986.2	+	11	1505	c.1263G>A	c.(1261-1263)taG>taA	p.*421*	IDO2_ENST00000389060.4_Silent_p.*408*|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	0					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CACGTGGTTAGGAGGCTGCCC	0.557000													8	41					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288801	125288801	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:125288801G>A	ENST00000304880.2	-	1	771	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGAGGACACAGGTAGGCACTG	0.537000													9	26					0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130677018	130677018	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:130677018C>T	ENST00000335791.5	-	3	390	c.115G>A	c.(115-117)Gac>Aac	p.D39N	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	39					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						AAGTGGTGGTCCAGGCAGGTG	0.642000													7	12					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540842	55540842	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:55540842C>T	ENST00000220676.1	+	4	4548	c.4400C>T	c.(4399-4401)tCt>tTt	p.S1467F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1467					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAATTGGAATCTTTTGAAGAA	0.378000													8	21					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2054075	2054075	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:2054075C>T	ENST00000262113.4	+	22	2919	c.2778C>T	c.(2776-2778)atC>atT	p.I926I	MYOM2_ENST00000523438.1_Silent_p.I351I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	926	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGGCAACATCTATCTGGGCT	0.473000													10	48					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323203	31323203	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr18:31323203C>T	ENST00000269197.5	+	12	3391	c.3391C>T	c.(3391-3393)Cct>Tct	p.P1131S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCGGTTGCCTCCTCCGCTCAG	0.478000													4	20					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99306869	99306869	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:99306869C>T	ENST00000336374.2	-	11	1044	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	348					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGCACAGTATCATAGGTGGGT	0.378000													10	32					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19236121	19236121	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:19236121C>T	ENST00000562034.1	+	5	4804	c.1006C>T	c.(1006-1008)Ccc>Tcc	p.P336S	SYT17_ENST00000562711.2_Missense_Mutation_p.P393S|SYT17_ENST00000355377.2_Missense_Mutation_p.P397S|SYT17_ENST00000568433.1_Missense_Mutation_p.P91S|SYT17_ENST00000568115.1_Missense_Mutation_p.P336S			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	397	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CTTCAAAGTTCCCCAAGAAGA	0.458000													10	47					0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15323568	15323568	+	RNA	SNP	T	T	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr21:15323568T>C	ENST00000344693.5	-	0	834					NR_027270.1																						AGGAAGGATGTTTTGCAGGAG	0.318000													16	104					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685448	125685448	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:125685448A>G	ENST00000371126.1	-	1	1386	c.1144T>C	c.(1144-1146)Ttc>Ctc	p.F382L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	382										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCTCCAGGAATTTCTGGGCC	0.622000													3	49					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48580158	48580158	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:48580158G>C	ENST00000262384.3	-	6	2469	c.2233C>G	c.(2233-2235)Cag>Gag	p.Q745E	N4BP1_ENST00000565423.1_Intron	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	745					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				AACGTGTACTGCAGCAGCCTA	0.527000													5	48					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040432	103040432	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:103040432G>A	ENST00000264260.2	+	4	821	c.232G>A	c.(232-234)Gac>Aac	p.D78N	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	78					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGGTAGTAACGACCTATCTGA	0.438000													7	24					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655039	31655039	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr21:31655039C>A	ENST00000340345.4	-	1	237	c.212G>T	c.(211-213)tGc>tTc	p.C71F		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	71						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGGAGATTTGCAGGTTGGTGC	0.532000													12	40					9.31168e-06	9.4589e-06	1	1	0
SKIV2L	6499	broad.mit.edu	37	6	31927100	31927100	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:31927100C>T	ENST00000375394.2	+	2	162	c.49C>T	c.(49-51)Cta>Tta	p.L17L	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_5'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	17						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCCCCTGGACCTACCCCTTCG	0.582000													69	318					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508119	37508119	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:37508119G>A	ENST00000374660.1	+	40	3767	c.3668G>A	c.(3667-3669)aGg>aAg	p.R1223K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R1104K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R1104K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTAACTAAAAGGGCATCTCAA	0.333000													29	112					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584164	179584164	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:179584164G>A	ENST00000589042.1	-	83	24177	c.23953C>T	c.(23953-23955)Cct>Tct	p.P7985S	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6741S|TTN_ENST00000591111.1_Missense_Mutation_p.P7668S|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7668	Ig-like 62.						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)			ATGAAGGAAGGAGGCACAATC	0.488000													9	67					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8218844	8218844	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:8218844C>T	ENST00000539824.1	+	7	935	c.561C>T	c.(559-561)tcC>tcT	p.S187S	SH3TC1_ENST00000245105.3_Silent_p.S263S			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	263							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCGTGTCCTCCGAGGAGGTGG	0.662000													4	21					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33312736	33312736	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:33312736A>G	ENST00000242067.6	+	8	1336	c.815A>G	c.(814-816)aAg>aGg	p.K272R	BBS9_ENST00000350941.3_Missense_Mutation_p.K272R|BBS9_ENST00000354265.4_Missense_Mutation_p.K272R|BBS9_ENST00000355070.2_Missense_Mutation_p.K272R|BBS9_ENST00000396127.2_Missense_Mutation_p.K272R|BBS9_ENST00000425508.2_Missense_Mutation_p.K227R	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	272					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTTTGCCTTAAGGATAATGGA	0.373000									Bardet-Biedl syndrome				13	118					0	0	1	0	0
ARPC2	10109	broad.mit.edu	37	2	219110154	219110154	+	Silent	SNP	A	A	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:219110154A>G	ENST00000295685.10	+	7	822	c.561A>G	c.(559-561)gaA>gaG	p.E187E	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Silent_p.E187E	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	187					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		AGTTCAAAGAAGGACGCAGAG	0.517000													9	61					0	0	1	0	0
C21orf33	8209	broad.mit.edu	37	21	45563173	45563173	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr21:45563173A>G	ENST00000291577.6	+	6	701	c.608A>G	c.(607-609)aAg>aGg	p.K203R	C21orf33_ENST00000348499.5_Missense_Mutation_p.K172R	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	203						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		GAAGGTGGCAAGTGGCCTTAT	0.627000													6	29					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103293071	103293071	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:103293071G>A	ENST00000428762.1	-	14	1849	c.1690C>T	c.(1690-1692)Ctc>Ttc	p.L564F	RELN_ENST00000424685.2_Missense_Mutation_p.L564F|RELN_ENST00000343529.5_Missense_Mutation_p.L564F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	564					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTAGAAGGGAGAACAGGCAAG	0.438000													21	62					0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2905646	2905646	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:2905646G>A	ENST00000161006.3	-	4	553	c.488C>T	c.(487-489)cCt>cTt	p.P163L	PRSS22_ENST00000574768.1_5'UTR|PRSS22_ENST00000571228.1_Intron	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	163	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						AGAGGCATCAGGTAGGCAGAT	0.587000													7	58					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76749711	76749711	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:76749711G>A	ENST00000261183.3	-	24	3107	c.2628C>T	c.(2626-2628)ctC>ctT	p.L876L	OSBPL8_ENST00000393249.2_Silent_p.L834L|OSBPL8_ENST00000393250.4_Silent_p.L834L	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	876					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GCAAAATCAGGAGGAAAATGA	0.358000													6	31					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88702692	88702692	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:88702692C>T	ENST00000372027.4	-	6	1922	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	617						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCAGCACCTCCTCCCCGAAG	0.731000													4	10					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194063399	194063399	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:194063399G>A	ENST00000323830.3	-	2	122	c.33C>T	c.(31-33)tcC>tcT	p.S11S	CPN2_ENST00000429275.1_Silent_p.S11S	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	11					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGAGCAGGAGGGAGGTCCAGA	0.587000													7	23					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56161183	56161183	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:56161183G>A	ENST00000399503.3	+	5	1052	c.1052G>A	c.(1051-1053)cGt>cAt	p.R351H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	351				R -> H (in Ref. 2; AAC97073).	cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGCTGTGCACGTGGAACATTC	0.348000													6	46					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039382	31039382	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:31039382G>A	ENST00000355537.3	+	4	3003	c.2856G>A	c.(2854-2856)gtG>gtA	p.V952V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	952					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCACGGAGTGGATGGTGGTG	0.537000													32	129					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13523065	13523065	+	Silent	SNP	A	A	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:13523065A>G	ENST00000341083.3	-	6	1037	c.741T>C	c.(739-741)tcT>tcC	p.S247S	BEND7_ENST00000396900.2_Silent_p.S299S|BEND7_ENST00000396898.2_Silent_p.S312S|BEND7_ENST00000378605.3_Silent_p.S260S	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	299							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TTGACAATATAGAGTCCAGCT	0.403000													3	70					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52901848	52901848	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr18:52901848G>A	ENST00000354452.3	-	16	2028	c.1417C>T	c.(1417-1419)Ccg>Tcg	p.P473S	TCF4_ENST00000564228.1_Missense_Mutation_p.P402S|TCF4_ENST00000561992.1_Missense_Mutation_p.P343S|TCF4_ENST00000537856.3_Missense_Mutation_p.P343S|TCF4_ENST00000564999.1_Missense_Mutation_p.P473S|TCF4_ENST00000356073.4_Missense_Mutation_p.P473S|TCF4_ENST00000566279.1_Missense_Mutation_p.P413S|TCF4_ENST00000544241.2_Missense_Mutation_p.P402S|TCF4_ENST00000457482.3_Missense_Mutation_p.P313S|TCF4_ENST00000540999.1_Missense_Mutation_p.P449S|TCF4_ENST00000568673.1_Missense_Mutation_p.P449S|TCF4_ENST00000567880.1_Missense_Mutation_p.P413S|TCF4_ENST00000543082.1_Missense_Mutation_p.P431S|TCF4_ENST00000568740.1_Missense_Mutation_p.P448S|TCF4_ENST00000570287.2_Missense_Mutation_p.P313S|TCF4_ENST00000398339.1_Missense_Mutation_p.P575S|TCF4_ENST00000566286.1_Missense_Mutation_p.P470S|TCF4_ENST00000565018.2_Missense_Mutation_p.P473S|TCF4_ENST00000564403.2_Missense_Mutation_p.P479S|TCF4_ENST00000570177.2_Missense_Mutation_p.P343S|TCF4_ENST00000561831.3_Missense_Mutation_p.P313S|TCF4_ENST00000537578.1_Missense_Mutation_p.P449S	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	473					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TGTGGAACCGGAACCTGGTTT	0.602000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	65					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45821516	45821516	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:45821516G>A	ENST00000358525.4	-	3	454	c.339C>T	c.(337-339)ctC>ctT	p.L113L	SLC6A20_ENST00000353278.4_Silent_p.L113L|SLC6A20_ENST00000456124.2_Silent_p.L113L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	113					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGGAGTGGAAGAGGTACCAGA	0.627000													3	3					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31200457	31200457	+	Silent	SNP	A	A	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:31200457A>G	ENST00000254108.7	+	9	951	c.846A>G	c.(844-846)tcA>tcG	p.S282S	FUS_ENST00000380244.3_Silent_p.S281S|FUS_ENST00000568685.1_Silent_p.S283S|FUS_ENST00000474990.1_3'UTR	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	282					cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		AGGATAATTCAGACAACAACA	0.378000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								8	104					0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144124642	144124642	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:144124642A>C	ENST00000307017.4	+	5	1638	c.1132A>C	c.(1132-1134)Aca>Cca	p.T378P	USP38_ENST00000510377.1_Missense_Mutation_p.T378P	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	378					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					AGTACAATTAACAGAATTGAT	0.333000													24	47					0	0	1	0	0
C10orf53	282966	broad.mit.edu	37	10	50901947	50901947	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:50901947C>T	ENST00000374113.3	+	2	272	c.225C>T	c.(223-225)ccC>ccT	p.P75P	C10orf53_ENST00000374111.3_Intron|C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374112.3_Intron			Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				TCGGTAAGCCCTTTGGCGATG	0.448000													8	44					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57094314	57094314	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:57094314A>T	ENST00000278412.2	-	16	2187	c.1921T>A	c.(1921-1923)Tcc>Acc	p.S641T	RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	641	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GAGGGCGTGGATTTCTTTTCC	0.498000													6	39					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554789	150554789	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:150554789C>T	ENST00000493429.1	+	4	1815	c.1231C>T	c.(1231-1233)Cat>Tat	p.H411Y	AOC1_ENST00000416793.2_Missense_Mutation_p.H411Y|AOC1_ENST00000360937.4_Missense_Mutation_p.H411Y|AOC1_ENST00000467291.1_Missense_Mutation_p.H411Y					amine oxidase, copper containing 1																		TGACCCGGTCCATTATCCCCG	0.577000													17	73					0	0	1	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27666038	27666038	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:27666038G>A	ENST00000543753.1	+	4	418	c.371G>A	c.(370-372)gGt>gAt	p.G124D	KRTCAP3_ENST00000407293.1_Missense_Mutation_p.G106D|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.G124D	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	124						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					GTGGCCAACGGTGGCCGCCGC	0.617000													10	123					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35756497	35756497	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:35756497G>A	ENST00000540320.1	+	29	5197	c.4662_splice	c.e29-1	p.D1555_splice	NBEA_ENST00000400445.3_Splice_Site_p.D1555_splice|NBEA_ENST00000379939.2_Splice_Site_p.D1552_splice|NBEA_ENST00000310336.4_Splice_Site_p.D1555_splice			Q8NFP9	NBEA_HUMAN	neurobeachin	1555						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTTTCATAGGATGATAGCAA	0.343000													8	48					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994732	140994732	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:140994732C>T	ENST00000285879.4	+	4	1828	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	514							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCTCCTCTCCAGATTCCTC	0.507000										HNSCC(15;0.026)			36	58					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179554673	179554673	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:179554673C>A	ENST00000393371.2	-	5	946	c.650G>T	c.(649-651)cGg>cTg	p.R217L	RASGEF1C_ENST00000522500.1_Missense_Mutation_p.R66L|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R217L|RASGEF1C_ENST00000519883.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	217	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGATGTGCCGCAGCCGCTC	0.627000													3	14					0.00024832	0.000250268	1	1	0
PACS2	23241	broad.mit.edu	37	14	105859672	105859672	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:105859672G>A	ENST00000447393.1	+	23	2738	c.2563_splice	c.e23+1	p.V855_splice	PACS2_ENST00000551743.1_Splice_Site_p.V365_splice|PACS2_ENST00000551801.1_Splice_Site_p.V52_splice|PACS2_ENST00000547217.1_Splice_Site_p.V821_splice|PACS2_ENST00000325438.8_Splice_Site_p.V851_splice|PACS2_ENST00000458164.2_Splice_Site_p.V866_splice|PACS2_ENST00000430725.2_Splice_Site_p.V776_splice	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	851					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CATGCTGCGGGGTGAGCACCA	0.617000													4	33					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50555432	50555432	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr15:50555432C>T	ENST00000267845.3	-	2	606	c.204_splice	c.e2+1	p.G68_splice	HDC_ENST00000543581.1_Splice_Site_p.G68_splice	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	68					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TGTGTCTCACCCCAGGCATGA	0.582000													10	97					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113333	161113333	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:161113333C>T	ENST00000523217.1	+	2	378	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	GABRA6_ENST00000274545.5_Missense_Mutation_p.R46W|GABRA6_ENST00000522269.1_3'UTR	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	46					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTATGACAATCGGCTGCGGCC	0.493000										TCGA Ovarian(5;0.080)			7	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605802	179605802	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:179605802G>A	ENST00000589042.1	-	48	12382	c.12158C>T	c.(12157-12159)cCa>cTa	p.P4053L	TTN_ENST00000359218.5_Missense_Mutation_p.P3815L|TTN_ENST00000460472.2_Missense_Mutation_p.P3690L|TTN_ENST00000342175.6_Missense_Mutation_p.P3882L|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P3736L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3736							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)			GGGTGTCTGTGGAAAATCCTC	0.478000													14	131					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71575507	71575507	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:71575507C>T	ENST00000304743.2	+	34	6934	c.6488C>T	c.(6487-6489)tCa>tTa	p.S2163L	PCNX_ENST00000439984.3_Missense_Mutation_p.S2052L|PCNX_ENST00000238570.5_Missense_Mutation_p.S2091L|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2163	Ser-rich.					integral to membrane		p.S2163L(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AACTTGCCATCATCCATCCAA	0.572000													7	40					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51685575	51685575	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:51685575C>T	ENST00000267012.4	-	10	1376	c.1315G>A	c.(1315-1317)Gcc>Acc	p.A439T	BIN2_ENST00000452142.2_Missense_Mutation_p.A407T|BIN2_ENST00000544402.1_Missense_Mutation_p.A413T|BIN2_ENST00000604560.1_Missense_Mutation_p.A412T	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	439	Pro-rich.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTCCAGAGGCTGTAGGGCTG	0.622000													8	32					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76799510	76799510	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:76799510G>A	ENST00000312010.6	-	16	3091	c.2767C>T	c.(2767-2769)Ctt>Ttt	p.L923F	USP36_ENST00000542802.2_Missense_Mutation_p.L923F|USP36_ENST00000449938.2_Missense_Mutation_p.L528F	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	923					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCTTCACCAAGACCTTCTGCT	0.582000													7	51					0	0	1	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244973	1244973	+	RNA	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:1244973G>A	ENST00000581398.1	+	0	927				CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA	NR_033339.1																						TGTTCCAAGCGCTGCCTTCTC	0.567000													4	16					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66431973	66431973	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:66431973C>T	ENST00000341529.3	+	9	1597	c.1449C>T	c.(1447-1449)taC>taT	p.Y483Y	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	483	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCAAGCCCTACCAGCCCAAAG	0.572000													21	95					0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30261045	30261045	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:30261045C>T	ENST00000378982.2	+	1	989	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	265	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CAACAGTGATCCCCCACGCTA	0.502000													11	21					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16138351	16138351	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:16138351C>T	ENST00000399408.2	+	8	1029	c.854C>T	c.(853-855)cCg>cTg	p.P285L	ABCC1_ENST00000349029.5_Missense_Mutation_p.P285L|ABCC1_ENST00000345148.5_Missense_Mutation_p.P285L|ABCC1_ENST00000346370.5_Missense_Mutation_p.P285L|ABCC1_ENST00000399410.3_Missense_Mutation_p.P285L|ABCC1_ENST00000351154.5_Missense_Mutation_p.P285L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	285					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCTGCCCAGCCGAAAGAGAGT	0.557000													3	34					0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142326766	142326766	+	RNA	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:142326766G>A	ENST00000390393.3	+	0	272																											CGTGGATGGTGGAATCACTCA	0.527000													11	66					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986016	11986016	+	RNA	SNP	C	C	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:11986016C>A	ENST00000434078.2	+	0	608					NR_027425.1																						AACGTCTTGGCGGCAGGCGCC	0.478000													5	56					0.000602214	0.000602214	1	1	0
FAM49B	51571	broad.mit.edu	37	8	130891648	130891648	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:130891648G>A	ENST00000519824.2	-	3	333	c.60C>T	c.(58-60)ttC>ttT	p.F20F	FAM49B_ENST00000517654.1_Silent_p.F20F|FAM49B_ENST00000518879.1_Intron|FAM49B_ENST00000519110.1_Silent_p.F20F|FAM49B_ENST00000519540.1_Silent_p.F20F|FAM49B_ENST00000523509.1_Silent_p.F20F|FAM49B_ENST00000522746.1_Silent_p.F20F|FAM49B_ENST00000401979.2_Silent_p.F20F|FAM49B_ENST00000522250.1_Intron|FAM49B_ENST00000522941.1_Intron	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	20										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			CAAAATCAAGGAAAAAATTTG	0.373000													6	27					0	0	1	0	0
ACOT6	641372	broad.mit.edu	37	14	74086109	74086109	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:74086109G>A	ENST00000381139.1	+	2	521	c.190G>A	c.(190-192)Gat>Aat	p.D64N	RP3-414A15.10_ENST00000555011.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	64						cytosol	carboxylesterase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		ACTTGTCGATGATCTAGGAAA	0.403000													4	66					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128814897	128814897	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:128814897G>A	ENST00000270861.5	+	13	2697	c.2423G>A	c.(2422-2424)gGt>gAt	p.G808D	PLK4_ENST00000507249.1_Missense_Mutation_p.G747D|PLK4_ENST00000513090.1_Missense_Mutation_p.G776D|PLK4_ENST00000514379.1_Missense_Mutation_p.G767D|PLK4_ENST00000515069.1_Missense_Mutation_p.G730D	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	808					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AGAAAACCTGGTAGTACTAGT	0.353000													12	101					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455304	70455304	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:70455304C>T	ENST00000503640.1	-	6	1425	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	UGT2A1_ENST00000512704.1_Missense_Mutation_p.R413Q|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R466Q|UGT2A1_ENST00000514019.1_Missense_Mutation_p.R623Q|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R457Q	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	457					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAAGACTGCTCGATCCAGGGG	0.448000													19	63					0	0	1	0	0
TRBV7-4	28594	broad.mit.edu	37	7	142176756	142176756	+	RNA	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:142176756C>T	ENST00000390369.2	-	0	34																											CCCTAGGAAACCCAGGACCAC	0.512000													14	59					0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3548013	3548013	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:3548013C>A	ENST00000355415.2	-	4	839	c.670G>T	c.(670-672)Gtg>Ttg	p.V224L	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Missense_Mutation_p.V224L|MFSD12_ENST00000398558.4_Missense_Mutation_p.V224L	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	224					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						ACACCCACCACCAGCAGGGAC	0.701000													4	31					0.00024832	0.000250268	1	1	0
EXPH5	23086	broad.mit.edu	37	11	108381647	108381647	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:108381647G>A	ENST00000265843.4	-	6	4697	c.4587C>T	c.(4585-4587)aaC>aaT	p.N1529N	EXPH5_ENST00000428840.1_Silent_p.N1453N|EXPH5_ENST00000443411.1_Silent_p.N1341N|EXPH5_ENST00000525344.1_Silent_p.N1522N	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1529					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GACTCTCTAAGTTTGGTTCAT	0.433000													6	25					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445603	85445603	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:85445603G>A	ENST00000316356.4	-	7	1333	c.769C>T	c.(769-771)Cct>Tct	p.P257S	SYTL2_ENST00000389960.4_Missense_Mutation_p.P256S|SYTL2_ENST00000524452.1_Missense_Mutation_p.P256S|SYTL2_ENST00000528231.1_Missense_Mutation_p.P256S|SYTL2_ENST00000527523.1_Missense_Mutation_p.P208S			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	256					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTTGTCTAGGAAAAGACTGG	0.473000													5	75					0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110607256	110607256	+	Missense_Mutation	SNP	G	G	A	rs121908168		TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:110607256G>A	ENST00000369792.4	-	2	634	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	183			R -> W (in FND1).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCTGCTCCCGGGCATACACA	0.597000													7	31					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112642585	112642585	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:112642585T>C	ENST00000471858.1	-	7	1149	c.917A>G	c.(916-918)aAc>aGc	p.N306S	CD200R1_ENST00000308611.3_Missense_Mutation_p.N329S|CD200R1_ENST00000295863.4_3'UTR	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	306					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CTTCACCTTGTTTGTAGTATC	0.378000													6	33					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28913433	28913433	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:28913433G>A	ENST00000282397.4	-	17	2611	c.2360C>T	c.(2359-2361)tCt>tTt	p.S787F	FLT1_ENST00000540678.1_Missense_Mutation_p.S5F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	787					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TATTTCAGAAGAAGACTGAGA	0.383000													4	27					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767909	77767909	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:77767909C>T	ENST00000521891.2	+	10	9200	c.8752C>T	c.(8752-8754)Ccc>Tcc	p.P2918S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2892S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2873S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2873S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2873						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)			ATCCAGCAATCCCTTTAAATC	0.493000										HNSCC(33;0.089)			10	30					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328342	61328342	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr18:61328342C>T	ENST00000283752.5	-	2	252	c.109G>A	c.(109-111)Gca>Aca	p.A37T	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.A37T	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	37					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATCCCTAATGCTGATGTGATG	0.418000													14	65					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5897000	5897000	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr20:5897000G>A	ENST00000378961.4	+	2	282	c.78G>A	c.(76-78)agG>agA	p.R26R	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	26						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TGGATAACAGGAACCACAATG	0.393000													3	11					0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90362398	90362398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:90362398G>A	ENST00000371939.3	+	9	1103	c.789G>A	c.(787-789)tgG>tgA	p.W263*		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	263					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TGCTTCATTGGAGTCAGGTAT	0.348000													4	41					0	0	1	0	0
PPIL6	285755	broad.mit.edu	37	6	109748299	109748299	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:109748299C>T	ENST00000521072.2	-	4	1061	c.481G>A	c.(481-483)Gag>Aag	p.E161K	PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000424445.2_Missense_Mutation_p.E129K|PPIL6_ENST00000440797.2_Missense_Mutation_p.E161K	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	161	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		AGTATCACCTCAAAAATCAAT	0.303000													8	16					0	0	1	0	0
TSSK6	83983	broad.mit.edu	37	19	19626089	19626089	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:19626089G>A	ENST00000360913.3	-	1	749	c.148C>T	c.(148-150)Ccg>Tcg	p.P50S	TSSK6_ENST00000585580.3_Missense_Mutation_p.P50S			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	50	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ACGAAGTCCGGGGGCGCTCGC	0.612000													9	32					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208464	140208464	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:140208464G>A	ENST00000529310.1	+	1	902	c.788G>A	c.(787-789)aGa>aAa	p.R263K	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R263K|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGTTATCAGACTGAATGCT	0.408000													6	59					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7457031	7457031	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:7457031T>C	ENST00000399422.4	+	1	152	c.104T>C	c.(103-105)cTt>cCt	p.L35P		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	35					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CCTCTGACTCTTGCTGACTTT	0.473000													18	100					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	39					0	0	1	0	0
SMYD2	56950	broad.mit.edu	37	1	214498026	214498026	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:214498026C>T	ENST00000366957.5	+	6	599	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.H193Y	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	193	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		AGAACTTTCTCATTTGGGATC	0.338000													18	82					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64601265	64601265	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:64601265C>T	ENST00000342711.5	-	22	2509	c.2510G>A	c.(2509-2511)aGg>aAg	p.R837K		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	837					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCCTCCATGCCTTGTGGCCTC	0.647000													11	62					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104570979	104570979	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:104570979C>T	ENST00000551177.1	+	9	1049	c.957C>T	c.(955-957)gtC>gtT	p.V319V	ASPG_ENST00000455920.2_Silent_p.V319V|ASPG_ENST00000546892.2_Silent_p.V319V	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	319	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GAGCCGGCGTCATCTCAGGCT	0.682000													4	22					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38905539	38905539	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:38905539C>T	ENST00000312150.4	-	7	1274	c.1214G>A	c.(1213-1215)gGa>gAa	p.G405E		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	405	Tail.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ATTTCCAGATCCATAATCTTT	0.358000													9	98					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829763	61829763	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:61829763C>T	ENST00000280772.1	-	37	11067	c.10876G>A	c.(10876-10878)Gaa>Aaa	p.E3626K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3626					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGCCTCTCTTCAACAAAATCC	0.473000													5	42					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27215684	27215684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:27215684G>T	ENST00000230582.3	+	2	109	c.94G>T	c.(94-96)Gag>Tag	p.E32*	PRSS16_ENST00000421826.2_Nonsense_Mutation_p.E32*	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	32					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCGCCTGGGTGAGCACATTCA	0.632000													12	59					9.31168e-06	9.4589e-06	1	1	0
CCR5	1234	broad.mit.edu	37	3	46414966	46414966	+	Silent	SNP	G	G	A	rs333	byFrequency	TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:46414966G>A	ENST00000343801.4	+	3	930	c.573G>A	c.(571-573)aaG>aaA	p.K191K	CCR5_ENST00000292303.4_Silent_p.K191K|CCR5_ENST00000445772.1_Silent_p.K191K|RP11-24F11.2_ENST00000451485.1_RNA	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	191					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	p.K191N(1)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	AATTCTGGAAGAATTTCCAGA	0.448000													35	156					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	62055094	62055094	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:62055094C>T	ENST00000577390.1	-	2	1168	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	CDH8_ENST00000577730.1_Missense_Mutation_p.E72K|CDH8_ENST00000299345.6_Missense_Mutation_p.E72K|CDH8_ENST00000584337.1_Missense_Mutation_p.E72K	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	72	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAAAACTCTTCCAGGACAAAC	0.423000													5	40					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69621313	69621313	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:69621313C>T	ENST00000337103.4	+	8	2585	c.994_splice	c.e8+1	p.F331_splice	C8orf34_ENST00000539993.1_Splice_Site_p.F356_splice|C8orf34_ENST00000518698.1_Splice_Site_p.F442_splice|C8orf34_ENST00000325233.3_Splice_Site_p.F100_splice			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	356					signal transduction		cAMP-dependent protein kinase regulator activity	p.F331F(1)|p.F356F(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGATTCATTCGGTAAGTTTT	0.343000													3	21					0	0	1	0	0
SUMF2	25870	broad.mit.edu	37	7	56140705	56140705	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:56140705G>A	ENST00000434526.2	+	3	328	c.297G>A	c.(295-297)gaG>gaA	p.E99E	SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000437307.2_Silent_p.E80E|SUMF2_ENST00000342190.6_Silent_p.E99E|SUMF2_ENST00000395435.2_Silent_p.E99E|SUMF2_ENST00000395436.2_Silent_p.E99E|SUMF2_ENST00000413756.1_Silent_p.E80E	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	80						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTGTCAGGGAGAAAAAGTATC	0.473000													9	25					0	0	1	0	0
SCNM1	79005	broad.mit.edu	37	1	151141482	151141482	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:151141482G>A	ENST00000368905.4	+	7	725	c.614G>A	c.(613-615)gGa>gAa	p.G205E		NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	205					mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATCCCAGATGGACGAGGTCGA	0.453000													12	40					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79027271	79027271	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:79027271C>T	ENST00000446378.2	+	2	2714	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	895						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACGATACACACCCTCTTCTAC	0.468000													7	22					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175712	143175712	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:143175712C>T	ENST00000408916.1	+	1	747	c.747C>T	c.(745-747)tcC>tcT	p.S249S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	249					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCTTTCTGTCCCTGATCATTG	0.507000													10	66					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93730273	93730273	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:93730273G>A	ENST00000334746.5	-	4	1536	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F	BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Missense_Mutation_p.S59F	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	410										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ATATGGATGAGAACTCCACTT	0.408000													4	42					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382590	51382590	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:51382590G>A	ENST00000216392.7	-	10	1524	c.1192C>T	c.(1192-1194)Cct>Tct	p.P398S	PYGL_ENST00000544180.2_Missense_Mutation_p.P364S|PYGL_ENST00000532462.1_Missense_Mutation_p.P398S	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	398					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AAATGTCGAGGGAGCAGCTTC	0.488000													4	29					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236659084	236659084	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:236659084G>A	ENST00000409538.1	+	6	1916	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	AGAP1_ENST00000336665.5_Missense_Mutation_p.E209K|AGAP1_ENST00000304032.7_Missense_Mutation_p.E209K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E48K|AGAP1_ENST00000409457.1_Missense_Mutation_p.E209K			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	209	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CACGTACTACGAGACGTGTGC	0.537000													11	97					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211518789	211518789	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:211518789G>A	ENST00000233072.5	+	29	3717	c.3521G>A	c.(3520-3522)cGa>cAa	p.R1174Q	CPS1_ENST00000430249.2_Missense_Mutation_p.R1180Q|CPS1_ENST00000451903.2_Missense_Mutation_p.R723Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1174	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GAAGGGGCCCGAGAAGTAGAA	0.423000													10	40					0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5565961	5565961	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:5565961A>T	ENST00000322653.4	-	1	818	c.793T>A	c.(793-795)Ttc>Atc	p.F265I	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATGGAGAAAAAGGCAGGT	0.502000													5	34					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141568589	141568589	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:141568589G>A	ENST00000220592.5	-	7	985	c.873C>T	c.(871-873)caC>caT	p.H291H	AGO2_ENST00000519980.1_Silent_p.H291H	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		GTTACGTTTGGTGACTGGCGG	0.582000													19	66					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45153928	45153928	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:45153928G>A	ENST00000296129.1	-	3	436	c.302C>T	c.(301-303)tCa>tTa	p.S101L	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.S101L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	101						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ACATGGGCCTGACATACAGTC	0.507000													30	109					0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55607264	55607264	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:55607264G>A	ENST00000263433.3	-	9	1213	c.1198C>T	c.(1198-1200)Ccg>Tcg	p.P400S	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.P400S|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.P326S	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	400						cytoplasm		p.P400T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGGTGCGGCGGGGAGGAGACG	0.612000													31	69					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119097172	119097172	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:119097172C>T	ENST00000328252.3	+	13	3799	c.3430C>T	c.(3430-3432)Ctg>Ttg	p.L1144L	PAPPA_ENST00000534838.1_Silent_p.L182L	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1144					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GAACAATCCCCTGATTATCCC	0.632000													13	36					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518175	8518175	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:8518175C>T	ENST00000381196.4	-	18	1759	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	PTPRD_ENST00000358503.5_Missense_Mutation_p.E393K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E406K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E406K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E406K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E396K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E396K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E403K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E403K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E406K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E393K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	406	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGCACAGGTTCGCTGGGAGGC	0.542000										TSP Lung(15;0.13)			52	87					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290979	141290979	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:141290979G>A	ENST00000247452.3	-	3	1142	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	265	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCATAGACGAAGTGCTCCC	0.507000										HNSCC(46;0.14)			22	41					0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957967	35957967	+	Silent	SNP	A	A	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:35957967A>G	ENST00000341959.2	-	1	184	c.129T>C	c.(127-129)aaT>aaC	p.N43N		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGGACCCCATTGCCCAGCA	0.557000													9	47					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88476299	88476299	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:88476299G>A	ENST00000429277.2	+	10	1607	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	LDB3_ENST00000458213.2_Missense_Mutation_p.E373K|LDB3_ENST00000361373.4_Missense_Mutation_p.E483K|LDB3_ENST00000263066.6_Missense_Mutation_p.E373K|LDB3_ENST00000352360.5_Missense_Mutation_p.E226K	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	483						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GGGCCCTGCGGAGCCTGCCAG	0.647000													28	80					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72131228	72131228	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:72131228G>A	ENST00000305425.4	-	6	1926	c.1504C>T	c.(1504-1506)Cct>Tct	p.P502S	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.P554S|DACH1_ENST00000313174.7_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	552					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTGGGCCCAGGAAGTACATTT	0.408000													7	53					0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:30795310C>T	ENST00000013222.5	+	3	651	c.635C>T	c.(634-636)tCc>tTc	p.S212F	INMT_ENST00000409539.1_Missense_Mutation_p.S211F|INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	212						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGTGAATTTTCCTGCGTGGCC	0.597000													11	50					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137688743	137688743	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:137688743C>G	ENST00000371817.3	+	36	3308	c.2894C>G	c.(2893-2895)cCc>cGc	p.P965R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	965	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAAAGGGCCCCCCTGTAAGT	0.587000													18	59					0	0	1	0	0
TEX37	200523	broad.mit.edu	37	2	88828806	88828806	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:88828806C>T	ENST00000303254.3	+	4	499	c.357C>T	c.(355-357)gcC>gcT	p.A119A		NM_152670.2	NP_689883.1			testis expressed 37																		TGCACCTGGCCCAGGGTGACC	0.587000													15	56					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35993821	35993821	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:35993821G>A	ENST00000297866.5	+	15	2570	c.2504G>A	c.(2503-2505)aGt>aAt	p.S835N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	835										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATGTACCCAGTGGACACATC	0.393000													20	29					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28250509	28250509	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:28250509C>T	ENST00000305242.5	-	10	1466	c.1374G>A	c.(1372-1374)gtG>gtA	p.V458V	ARMC4_ENST00000537576.1_Silent_p.V150V|ARMC4_ENST00000239715.3_Silent_p.V315V|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	458							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTAAATATTTCACCAGCTTCT	0.378000													8	56					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													4	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179632760	179632760	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:179632760C>T	ENST00000589042.1	-	39	9510	c.9286G>A	c.(9286-9288)Gaa>Aaa	p.E3096K	TTN_ENST00000359218.5_Missense_Mutation_p.E3050K|TTN_ENST00000460472.2_Missense_Mutation_p.E3050K|TTN_ENST00000342175.6_Missense_Mutation_p.E3050K|TTN_ENST00000342992.6_Missense_Mutation_p.E3096K|TTN_ENST00000360870.5_Missense_Mutation_p.E3096K|TTN_ENST00000591111.1_Missense_Mutation_p.E3096K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2833	Ig-like 18.						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)			ATCTGCAGTTCCTGGTCATCT	0.418000													5	54					0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50685526	50685526	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:50685526C>T	ENST00000230658.7	+	4	1110	c.525C>T	c.(523-525)caC>caT	p.H175H	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.H175H	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	175					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CCCACGTCCACAAGCAGCCGG	0.716000													4	26					0	0	1	0	0
MESP2	145873	broad.mit.edu	37	15	90321375	90321375	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr15:90321375A>T	ENST00000341735.3	+	2	1004	c.1004A>T	c.(1003-1005)cAg>cTg	p.Q335L	MESP2_ENST00000558723.1_3'UTR|MESP2_ENST00000560219.1_Missense_Mutation_p.Q37L	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	335					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CAGAGACTGCAGCCTCAGACC	0.637000													7	29					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121203251	121203251	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:121203251C>T	ENST00000392870.2	+	12	1582	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	GRK5_ENST00000369108.3_Missense_Mutation_p.S313F	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	418	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GAGGCCAAGTCCATCTGCAAG	0.642000													4	22					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825573	196825573	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:196825573G>A	ENST00000312428.6	-	18	2402	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	768	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATAAAGACGAAGATAAGGG	0.403000													14	79					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382591	51382591	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:51382591G>A	ENST00000216392.7	-	10	1523	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	PYGL_ENST00000544180.2_Silent_p.L363L|PYGL_ENST00000532462.1_Silent_p.L397L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	397					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AATGTCGAGGGAGCAGCTTCT	0.488000													4	29					0	0	1	0	0
NOC4L	79050	broad.mit.edu	37	12	132631868	132631868	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:132631868G>A	ENST00000330579.1	+	4	429	c.388G>A	c.(388-390)Gga>Aga	p.G130R		NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	130					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GCAGCTGGAAGGAGCGCACCC	0.652000													3	3					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73623540	73623540	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:73623540C>T	ENST00000317905.5	-	20	3097	c.2938G>A	c.(2938-2940)Gaa>Aaa	p.E980K	RECQL5_ENST00000423245.2_Missense_Mutation_p.E953K|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	980					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.E953K(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTCAGCTTCGCTCTCGCAC	0.627000								Other identified genes with known or suspected DNA repair function					10	97					0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123214542	123214542	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:123214542G>A	ENST00000432564.1	-	1	587	c.345C>T	c.(343-345)ttC>ttT	p.F115F	HCAR1_ENST00000436083.2_Silent_p.F115F|HCAR1_ENST00000356987.2_Silent_p.F115F	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	115					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GGACCACTTTGAAATACCTGT	0.617000													8	46					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9323666	9323666	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:9323666T>G	ENST00000377403.2	+	5	1416	c.1114T>G	c.(1114-1116)Ttg>Gtg	p.L372V	H6PD_ENST00000602477.1_Missense_Mutation_p.L383V	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	372	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CGCTCGGATCTTGTTCAAGAA	0.612000													5	54					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9034696	9034696	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:9034696C>T	ENST00000383836.3	-	20	2879	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	SRGAP3_ENST00000360413.3_Missense_Mutation_p.E794K	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	818					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTGCTGGCCTCGCTGTCAGCC	0.572000			T	RAF1	pilocytic astrocytoma								5	35					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33049960	33049960	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr20:33049960C>T	ENST00000374864.4	+	14	1571	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000262650.6_Missense_Mutation_p.P494L|ITCH_ENST00000535650.1_Missense_Mutation_p.P343L	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	494	Required for interaction with FYN.|WW 3.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GATGGAATTCCATATTTTGTG	0.348000													10	47					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63173858	63173858	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:63173858G>A	ENST00000449996.3	+	9	663	c.591G>A	c.(589-591)atG>atA	p.M197I	RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Missense_Mutation_p.M197I|RGS9_ENST00000262406.9_Missense_Mutation_p.M197I	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	197					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AGCCTGGAATGGACAATGTGC	0.463000													7	71					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	758338	758338	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:758338G>A	ENST00000215582.6	+	2	1495	c.1392G>A	c.(1390-1392)acG>acA	p.T464T		NM_173481.2	NP_775752.1			mitotic spindle positioning																		CAAAGGCCACGATGTCCCCGA	0.617000													9	50					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137688744	137688744	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:137688744C>T	ENST00000371817.3	+	36	3309	c.2895C>T	c.(2893-2895)ccC>ccT	p.P965P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	965	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAAAGGGCCCCCCTGTAAGTA	0.587000													18	58					0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37838725	37838725	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:37838725G>A	ENST00000324411.4	+	5	533	c.264G>A	c.(262-264)ggG>ggA	p.G88G	HKR1_ENST00000591134.1_Silent_p.G27G|HKR1_ENST00000589392.1_Silent_p.G69G|HKR1_ENST00000392153.3_Silent_p.G69G|HKR1_ENST00000592168.1_Silent_p.G27G|HKR1_ENST00000591259.1_Silent_p.G69G|HKR1_ENST00000541583.2_Silent_p.G27G|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000591417.1_Silent_p.G27G|HKR1_ENST00000586897.1_Silent_p.G27G	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	88	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGAGCGAGGGGAAGCGCCCT	0.498000													3	31					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152845623	152845623	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:152845623C>T	ENST00000263519.4	+	20	3656	c.3530C>T	c.(3529-3531)cCg>cTg	p.P1177L	ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000349466.2_Missense_Mutation_p.P1177L	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1177	Poly-Pro.				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCGCCCCCGTCCCCCAAC	0.602000													30	64					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236589	42236589	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:42236589C>T	ENST00000541110.1	-	5	1308	c.740G>A	c.(739-741)gGa>gAa	p.G247E	TRERF1_ENST00000372922.4_Missense_Mutation_p.G247E|TRERF1_ENST00000354325.2_Missense_Mutation_p.G247E|TRERF1_ENST00000340840.2_Missense_Mutation_p.G247E|TRERF1_ENST00000372917.4_Missense_Mutation_p.G247E			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	247	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGCTGTCCTCCCTGCACTGG	0.602000													6	50					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121353207	121353207	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:121353207C>T	ENST00000314583.3	-	10	841	c.750G>A	c.(748-750)agG>agA	p.R250R	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.R213R	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	250					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCTCTCGCTTCCTCTTCTCCT	0.547000													10	44					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122001057	122001057	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:122001057A>C	ENST00000334010.7	-	24	3813	c.3392T>G	c.(3391-3393)gTg>gGg	p.V1131G	RP5-1101C3.1_ENST00000602012.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.V1092G|RP5-1101C3.1_ENST00000482375.1_RNA|CADPS2_ENST00000449022.2_Missense_Mutation_p.V1133G|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.V1092G|RP5-1101C3.1_ENST00000602199.1_RNA	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1133					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GCCTTCCAACACTGAAACAAA	0.348000													5	22					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65822642	65822642	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:65822642C>T	ENST00000528302.1	+	4	408	c.354C>T	c.(352-354)ggC>ggT	p.G118G	SF3B2_ENST00000322535.6_Silent_p.G118G			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	118					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TTGGCCTTGGCTTTCCTATGG	0.652000													20	44					0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103346827	103346827	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:103346827C>T	ENST00000267273.6	-	1	27	c.22G>A	c.(22-24)Gcg>Acg	p.A8T		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	8							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GGCTGCTGCGCGGAGCTCAGA	0.577000													3	18					0	0	1	0	0
TRBJ2-4	28625	broad.mit.edu	37	7	142494712	142494712	+	RNA	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:142494712G>A	ENST00000390416.1	+	0	31																											TCGGCGCCGGGACCCGGCTCT	0.711000													3	10					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336563	126336563	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:126336563G>A	ENST00000394329.3	+	5	6458	c.6445G>A	c.(6445-6447)Gat>Aat	p.D2149N	FAT4_ENST00000335110.5_Missense_Mutation_p.D447N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2149	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGACATCAATGATAACAACCC	0.378000													15	75					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14801678	14801678	+	Silent	SNP	G	G	A	rs75281180	by1000genomes	TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr9:14801678G>A	ENST00000380881.4	-	21	4484	c.3669C>T	c.(3667-3669)caC>caT	p.H1223H	FREM1_ENST00000422223.2_Silent_p.H1222H|FREM1_ENST00000380880.3_Silent_p.H1222H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1222					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGGAAAAGCTGTGAACAGGTG	0.428000													21	24					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230654432	230654432	+	Silent	SNP	A	A	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:230654432A>T	ENST00000283943.5	-	30	4543	c.4365T>A	c.(4363-4365)atT>atA	p.I1455I	TRIP12_ENST00000389045.3_Silent_p.I1185I|TRIP12_ENST00000389044.4_Silent_p.I1503I	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1455					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTGGTGTGGGAATGAGGTAAA	0.363000													9	64					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11778031	11778031	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:11778031G>A	ENST00000356957.3	-	12	2412	c.2305C>T	c.(2305-2307)Ccc>Tcc	p.P769S	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.P742S			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	769	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTGTTGCAGGGAAAAAACAAG	0.408000													3	20					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428221	54428221	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:54428221C>T	ENST00000566473.2	+	4	292	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	ANKFN1_ENST00000318698.2_Missense_Mutation_p.R98C			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	98										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CGCAGCCAAACGCCTGTACAG	0.453000													10	58					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121881908	121881908	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:121881908C>T	ENST00000377069.4	-	16	2671	c.2265G>A	c.(2263-2265)ccG>ccA	p.P755P	KDM2B_ENST00000377071.4_Silent_p.P786P|KDM2B_ENST00000542973.1_Silent_p.P154P|KDM2B_ENST00000536437.1_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	786					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGCCGTCCGGCGGCACCTTCT	0.627000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	123					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89986740	89986740	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:89986740G>A	ENST00000405460.2	+	31	6929	c.6833G>A	c.(6832-6834)gGa>gAa	p.G2278E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2278					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACCATTAATGGACAGCTTGCT	0.488000													3	30					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924340	188924340	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:188924340G>A	ENST00000326866.4	+	4	787	c.379G>A	c.(379-381)Gta>Ata	p.V127I	ZFP42_ENST00000509524.1_Missense_Mutation_p.V127I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	127					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V127L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAAAAGGGGTAAAGAAAGA	0.418000													8	108					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46750981	46750981	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:46750981G>A	ENST00000311907.5	+	12	1580	c.1524G>A	c.(1522-1524)aaG>aaA	p.K508K	F2_ENST00000530231.1_Silent_p.K469K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	508	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCAACCTGAAGGAGACGTGGA	0.632000													7	89					0	0	1	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066487	46066487	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr21:46066487G>A	ENST00000334670.8	+	1	157	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	38	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CAGCTGCTGCGCCCCGGCCCC	0.697000													11	43					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55922487	55922487	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:55922487C>T	ENST00000288221.6	-	14	2749	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	832						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCTTCTTTTTCGGCCAGGGAC	0.537000													31	94					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087949	49087949	+	Missense_Mutation	SNP	G	G	A	rs113480935		TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:49087949G>A	ENST00000261900.3	-	9	1270	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	350					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TCACTAGTCCGATGACCCTGA	0.463000													24	81					0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34478338	34478338	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:34478338G>A	ENST00000241052.4	+	8	1119	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	344					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ACCTGGCATTGAGGCCAGTCC	0.488000													3	24					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113714963	113714963	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:113714963C>T	ENST00000397030.1	+	5	562	c.525C>T	c.(523-525)ttC>ttT	p.F175F	MCF2L_ENST00000375608.3_Silent_p.F172F|MCF2L_ENST00000375604.2_Silent_p.F199F|MCF2L_ENST00000423482.2_Silent_p.F140F|MCF2L_ENST00000375601.3_Silent_p.F146F|MCF2L_ENST00000442652.2_Silent_p.F172F|MCF2L_ENST00000434480.2_Silent_p.F148F|MCF2L_ENST00000375597.4_Silent_p.F140F|MCF2L_ENST00000421756.1_Silent_p.F146F|MCF2L_ENST00000535094.2_Silent_p.F142F			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	172	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CGGGTTTTTTCCAAAGGACTC	0.562000													4	43					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028583	37028583	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:37028583C>T	ENST00000358047.3	+	1	2152	c.2100C>T	c.(2098-2100)tcC>tcT	p.S700S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	700										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						CTGGAGTGTCCCGTCTCCACC	0.652000													14	34					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255187	70255187	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr7:70255187G>A	ENST00000342771.4	+	19	3306	c.2985G>A	c.(2983-2985)gaG>gaA	p.E995E	AUTS2_ENST00000406775.2_Silent_p.E971E	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	995										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGCCTCCAGAGGCCCCGCAGA	0.697000													6	24					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38185157	38185157	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:38185157G>A	ENST00000394126.1	-	13	1824	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	MED24_ENST00000394128.2_Missense_Mutation_p.S444F|MED24_ENST00000394127.2_Missense_Mutation_p.S431F|MED24_ENST00000356271.3_Missense_Mutation_p.S431F|MED24_ENST00000501516.3_Missense_Mutation_p.S463F			O75448	MED24_HUMAN	mediator complex subunit 24	444					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ACTCTTCCCGGACAGCATGTG	0.582000													10	52					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3436092	3436092	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:3436092C>T	ENST00000301365.4	-	8	1055	c.924G>A	c.(922-924)gaG>gaA	p.E308E	TRPV3_ENST00000572519.1_Silent_p.E308E|TRPV3_ENST00000576742.1_Silent_p.E308E			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	308						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TCTTGAAGTCCTCGGCCACGG	0.582000													4	40					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183675897	183675897	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr4:183675897C>T	ENST00000511685.1	+	22	4500	c.4377C>T	c.(4375-4377)taC>taT	p.Y1459Y	TENM3_ENST00000406950.2_Silent_p.Y1459Y|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GTGACTGTTACCAGAGTGGAG	0.488000													25	52					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4117584	4117584	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:4117584G>A	ENST00000262948.5	-	2	389	c.136C>T	c.(136-138)Ctt>Ttt	p.L46F	MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	46					activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTCGTCAAGTTCCAGCTCC	0.572000													11	69					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2415763	2415763	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:2415763G>A	ENST00000332578.3	+	10	1567	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	523	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCTGAAGGAAGGGTCCCG	0.677000													17	32					0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3117607	3117607	+	Missense_Mutation	SNP	G	G	T	rs145687578	byFrequency	TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:3117607G>T	ENST00000525643.2	+	4	439	c.107G>T	c.(106-108)cGt>cTt	p.R36L	IL32_ENST00000534507.1_Missense_Mutation_p.R82L|IL32_ENST00000008180.9_Intron|IL32_ENST00000396890.2_Missense_Mutation_p.R82L|IL32_ENST00000551513.1_Missense_Mutation_p.R82L|IL32_ENST00000531965.1_Missense_Mutation_p.R26L|IL32_ENST00000530538.2_Missense_Mutation_p.R36L|IL32_ENST00000552356.1_Intron|IL32_ENST00000551122.1_Missense_Mutation_p.R36L|IL32_ENST00000549213.1_Missense_Mutation_p.R36L|IL32_ENST00000382213.3_Missense_Mutation_p.R36L|IL32_ENST00000440815.3_Missense_Mutation_p.R36L|IL32_ENST00000530890.1_Intron|IL32_ENST00000396887.3_Missense_Mutation_p.R36L|IL32_ENST00000548246.1_Intron|IL32_ENST00000548652.1_Missense_Mutation_p.R36L|IL32_ENST00000444393.3_Missense_Mutation_p.R36L|IL32_ENST00000552936.1_Missense_Mutation_p.R60L|IL32_ENST00000528163.2_Missense_Mutation_p.R36L|IL32_ENST00000533097.2_Missense_Mutation_p.R36L|IL32_ENST00000548476.1_Missense_Mutation_p.R82L|IL32_ENST00000552664.1_Missense_Mutation_p.R36L|IL32_ENST00000526464.2_Missense_Mutation_p.R36L|IL32_ENST00000325568.5_Missense_Mutation_p.R36L|IL32_ENST00000529699.1_Missense_Mutation_p.R36L|IL32_ENST00000529550.1_Missense_Mutation_p.R36L			P24001	IL32_HUMAN	interleukin 32	82					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GAATCAGGACGTGGACAGGTG	0.557000													14	87					0.000308642	0.000309848	1	1	0
MUC16	94025	broad.mit.edu	37	19	9069874	9069874	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:9069874C>T	ENST00000397910.4	-	3	17775	c.17572G>A	c.(17572-17574)Gaa>Aaa	p.E5858K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5860	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGCCATTTCTGTGGATCCT	0.493000													24	112					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10647549	10647549	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:10647549C>T	ENST00000547195.1	-	8	1559	c.1059G>A	c.(1057-1059)caG>caA	p.Q353Q	MRVI1_ENST00000424001.1_Silent_p.Q129Q|MRVI1_ENST00000436272.1_Silent_p.Q417Q|MRVI1_ENST00000527509.2_Silent_p.Q353Q|MRVI1_ENST00000552103.1_Silent_p.Q353Q|MRVI1_ENST00000531107.1_Silent_p.Q436Q|MRVI1_ENST00000545852.1_Silent_p.Q129Q|MRVI1_ENST00000421747.1_Silent_p.Q435Q|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000558540.1_Silent_p.Q129Q|MRVI1_ENST00000423302.2_Silent_p.Q444Q|MRVI1_ENST00000534266.2_Silent_p.Q129Q	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	417					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCCGCACGGGCTGCACTTGTA	0.597000													6	18					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28196592	28196592	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:28196592C>T	ENST00000305242.5	-	17	2702	c.2610_splice	c.e17+1	p.K870_splice	ARMC4_ENST00000537576.1_Splice_Site_p.K562_splice|ARMC4_ENST00000545014.1_Splice_Site_p.K395_splice	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	870							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCGTTCTTACCTTTGCATTTT	0.438000													4	21					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131543412	131543412	+	Missense_Mutation	SNP	C	C	T	rs141239435		TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:131543412C>T	ENST00000401867.1	-	9	1637	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	P4HA2_ENST00000360568.3_Missense_Mutation_p.A357T|P4HA2_ENST00000166534.4_Missense_Mutation_p.A357T|P4HA2_ENST00000379086.1_Missense_Mutation_p.A357T|P4HA2_ENST00000379100.2_Missense_Mutation_p.A357T|P4HA2_ENST00000379104.2_Missense_Mutation_p.A357T			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	357						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TTAGGTTTTGCGATCTCCTTG	0.517000													4	61					0	0	1	0	0
BTRC	8945	broad.mit.edu	37	10	103298056	103298056	+	Silent	SNP	T	T	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:103298056T>A	ENST00000370187.3	+	13	1702	c.1584T>A	c.(1582-1584)atT>atA	p.I528I	BTRC_ENST00000393441.4_Silent_p.I487I|BTRC_ENST00000408038.2_Silent_p.I492I|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	528					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TTAGAAAAATTAAAGTGTGGG	0.423000													5	62					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719963	95719963	+	RNA	SNP	A	A	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:95719963A>T	ENST00000480546.1	-	0	1334					NR_002319.2																						GAATCTTCTTAAATACCGTGT	0.498000													8	68					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372465	175372465	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:175372465C>T	ENST00000367674.1	-	4	1495	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	TNR_ENST00000263525.2_Missense_Mutation_p.E263K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	263	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E263K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACCTCAGTTCCCTGCAGTCC	0.637000													9	37					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50089666	50089666	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:50089666C>T	ENST00000376042.1	+	10	3968	c.3670C>T	c.(3670-3672)Cgt>Tgt	p.R1224C	CCNB3_ENST00000376038.1_Missense_Mutation_p.R120C|CCNB3_ENST00000348603.2_Missense_Mutation_p.R120C|CCNB3_ENST00000276014.7_Missense_Mutation_p.R1224C			Q8WWL7	CCNB3_HUMAN	cyclin B3	1224					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAACTCACCTCGTGTGGATGA	0.463000													15	32					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55539276	55539276	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:55539276C>T	ENST00000219070.4	+	13	2414	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	MMP2_ENST00000543485.1_Silent_p.A559A|MMP2_ENST00000437642.2_Silent_p.A585A|MMP2_ENST00000570308.1_Silent_p.A559A	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	635	Hemopexin-like 4.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TCAAGGGTGCCTATTACCTGA	0.527000													25	97					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690878	38690878	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:38690878C>T	ENST00000449981.2	+	2	402	c.293C>T	c.(292-294)tCg>tTg	p.S98L						dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAGTGATTTCGGAAGTGCTG	0.502000													13	57					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280647	152280647	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:152280647G>A	ENST00000368799.1	-	3	6750	c.6715C>T	c.(6715-6717)Cgg>Tgg	p.R2239W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2239	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGATCCCCGGGGCCTGCTT	0.577000									Ichthyosis				45	159					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990618	197990618	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:197990618G>A	ENST00000328737.2	-	5	406	c.330C>T	c.(328-330)gtC>gtT	p.V110V	ANKRD44_ENST00000337207.5_Silent_p.V110V|ANKRD44_ENST00000450567.1_Silent_p.V110V|ANKRD44_ENST00000409153.1_Silent_p.V135V|ANKRD44_ENST00000282272.8_Silent_p.V127V|ANKRD44_ENST00000409919.1_Silent_p.V135V|ANKRD44_ENST00000539527.1_Silent_p.V63V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	135							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTCGGTCGGAGACATTGACAC	0.557000													21	102					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3436091	3436091	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:3436091C>T	ENST00000301365.4	-	8	1056	c.925G>A	c.(925-927)Gac>Aac	p.D309N	TRPV3_ENST00000572519.1_Missense_Mutation_p.D309N|TRPV3_ENST00000576742.1_Missense_Mutation_p.D309N			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	309						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GTCTTGAAGTCCTCGGCCACG	0.577000													4	39					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20681305	20681305	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr16:20681305C>T	ENST00000307493.4	-	5	823	c.756G>A	c.(754-756)agG>agA	p.R252R	ACSM1_ENST00000520010.1_Silent_p.R252R|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	252					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCGTAATTTCCTACTAACTC	0.512000													4	16					0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6626623	6626623	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:6626623C>T	ENST00000379953.2	+	4	673	c.321C>T	c.(319-321)ccC>ccT	p.P107P	LY86_ENST00000230568.4_Silent_p.P107P			O95711	LY86_HUMAN	lymphocyte antigen 86	107					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CGGCTCTGCCCAAGTTTTCTT	0.488000													13	38					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124361487	124361487	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:124361487G>A	ENST00000368909.3	+	29	3624	c.3518G>A	c.(3517-3519)gGa>gAa	p.G1173E	DMBT1_ENST00000368955.3_Missense_Mutation_p.G1163E|DMBT1_ENST00000330163.4_Missense_Mutation_p.G674E|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1163E|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.G674E|DMBT1_ENST00000338354.3_Missense_Mutation_p.G1173E	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1173	SRCR 9.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAGCCCCAGGAAATGCCCGG	0.602000													22	77					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169569529	169569529	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr3:169569529G>A	ENST00000316428.5	-	7	1094	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	LRRC31_ENST00000523069.1_Missense_Mutation_p.S346L|LRRC31_ENST00000264676.5_Missense_Mutation_p.S290L	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	346										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTTGTTGGCTGATAAATCCAA	0.393000													11	47					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844357	123844357	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:123844357C>T	ENST00000369005.1	+	4	2682	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L	TACC2_ENST00000453444.2_Missense_Mutation_p.P781L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P781L|TACC2_ENST00000515273.1_Missense_Mutation_p.P781L|TACC2_ENST00000334433.3_Missense_Mutation_p.P781L|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	781						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTGCCACATCCCCCCCAGGGG	0.637000													5	50					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004825	74004825	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr17:74004825C>T	ENST00000301607.3	-	22	4714	c.4461G>A	c.(4459-4461)caG>caA	p.Q1487Q	EVPL_ENST00000586740.1_Silent_p.Q1509Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1487	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGTCTTCTCCTGGTCCAGGT	0.572000													14	93					0	0	1	0	0
PPIL6	285755	broad.mit.edu	37	6	109748297	109748297	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:109748297C>T	ENST00000521072.2	-	4	1063	c.483_splice	c.e4+1	p.E161_splice	PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000424445.2_Splice_Site_p.E129_splice|PPIL6_ENST00000440797.2_Splice_Site_p.E161_splice	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	161	PPIase cyclophilin-type.				protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		AAAGTATCACCTCAAAAATCA	0.308000													8	16					0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172434464	172434464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:172434464C>T	ENST00000367727.4	+	6	565	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	C1orf105_ENST00000367725.4_Nonsense_Mutation_p.Q113*|C1orf105_ENST00000367726.1_3'UTR	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	123										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						ACCCAAATTCCAGACTACACC	0.373000													14	39					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45397874	45397874	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr15:45397874G>A	ENST00000389039.6	-	18	2686	c.2301C>T	c.(2299-2301)atC>atT	p.I767I	DUOX2_ENST00000603300.1_Silent_p.I767I			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	767					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGATCTCCAGGATGCGTTCCC	0.562000													17	61					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362522	36362522	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:36362522C>T	ENST00000221891.4	+	5	738	c.546C>T	c.(544-546)agC>agT	p.S182S	APLP1_ENST00000586861.1_Silent_p.S176S|APLP1_ENST00000537454.2_Silent_p.S143S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	182					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGCCTGCAGCTCCCAGGGCC	0.642000													14	52					0	0	1	0	0
BCL2A1	597	broad.mit.edu	37	15	80263245	80263245	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr15:80263245G>T	ENST00000267953.3	-	1	543	c.217C>A	c.(217-219)Caa>Aaa	p.Q73K	BCL2A1_ENST00000335661.6_Missense_Mutation_p.Q73K	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	73					anti-apoptosis|apoptosis	cytoplasm	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						TCCATCACTTGGTTGAATAGT	0.393000													29	120					1.08312e-15	1.11345e-15	1	1	0
PSG9	5678	broad.mit.edu	37	19	43762228	43762228	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:43762228G>A	ENST00000244293.7	-	4	1156	c.1090C>T	c.(1090-1092)Ctc>Ttc	p.L364F	PSG9_ENST00000270077.3_Intron|PSG9_ENST00000596730.1_Missense_Mutation_p.L271F|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	0	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTCAGGAGGAGAATTTGGGAT	0.448000													9	12					0	0	1	0	0
IFT43	112752	broad.mit.edu	37	14	76488735	76488735	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:76488735G>A	ENST00000556742.1	+	3	216	c.213G>A	c.(211-213)tcG>tcA	p.S71S	IFT43_ENST00000314067.6_Silent_p.S71S|IFT43_ENST00000238628.6_Silent_p.S71S|IFT43_ENST00000553338.1_3'UTR	NM_001255995.1	NP_001242924.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	71					cilium morphogenesis|intraflagellar retrograde transport			p.S71S(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGAAGGCTTCGAAGTGAGTAC	0.478000													14	87					0	0	1	0	0
CHURC1	91612	broad.mit.edu	37	14	65390803	65390803	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr14:65390803C>T	ENST00000607599.1	+	2	269	c.215C>T	c.(214-216)tCc>tTc	p.S72F	CHURC1_ENST00000549115.1_Missense_Mutation_p.S72F|CHURC1_ENST00000359118.2_Missense_Mutation_p.S45F|CHURC1-FNTB_ENST00000542227.1_5'UTR|CHURC1_ENST00000548752.2_Missense_Mutation_p.S72F|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.S45F|CHURC1_ENST00000552002.2_Missense_Mutation_p.S45F	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		ACAAACAAATCCTTGAAAGAA	0.393000													8	52					0	0	1	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28294491	28294491	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:28294491T>C	ENST00000414429.1	-	8	1576	c.673A>G	c.(673-675)Aag>Gag	p.K225E	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.K225E|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.K225E|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.K225E|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.K66E					zinc finger and SCAN domain containing 31																		TTTTCTGCCTTGCTGTCTCGT	0.428000													16	89					0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110607257	110607257	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr1:110607257G>A	ENST00000369792.4	-	2	633	c.546C>T	c.(544-546)gcC>gcT	p.A182A		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTGCTCCCGGGCATACACAT	0.592000													7	31					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891609	18891609	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr12:18891609G>A	ENST00000317658.3	+	1	565	c.407G>A	c.(406-408)gGa>gAa	p.G136E		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	136					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.G136A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TATCCAAAAGGAAATTGCAAC	0.403000													6	49					0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45051207	45051207	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chrX:45051207G>A	ENST00000398000.2	-	2	361	c.287C>T	c.(286-288)tCt>tTt	p.S96F	CXorf36_ENST00000377934.4_Missense_Mutation_p.S96F|RP11-342D14.1_ENST00000450527.1_RNA|RP11-342D14.1_ENST00000438181.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	96						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						TGCAGGATAAGAAAGCAAGGA	0.483000													4	16					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76476288	76476288	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:76476288C>T	ENST00000396423.2	+	10	1419	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L	HNF4G_ENST00000354370.1_Missense_Mutation_p.S395L	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	395					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AACCAAGCATCAGTCATTTCA	0.413000													22	92					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28202788	28202788	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr15:28202788C>A	ENST00000354638.3	-	16	1885	c.1730G>T	c.(1729-1731)gGg>gTg	p.G577V	OCA2_ENST00000353809.5_Missense_Mutation_p.G553V|OCA2_ENST00000382996.2_Missense_Mutation_p.G577V	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	577					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAGCACCTTCCCCAGCAGCAG	0.657000									Oculocutaneous Albinism				9	44					5.68852e-11	5.82451e-11	1	1	0
SPEG	10290	broad.mit.edu	37	2	220331918	220331918	+	Silent	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr2:220331918G>A	ENST00000312358.7	+	10	3036	c.2904G>A	c.(2902-2904)ctG>ctA	p.L968L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	968	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCGGTCCCTGGCCGTGCTGG	0.677000											OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	113					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676149	37676149	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:37676149G>A	ENST00000532828.2	-	5	2541	c.2290C>T	c.(2290-2292)Cat>Tat	p.H764Y	ZNF585B_ENST00000531805.1_Missense_Mutation_p.H709Y|ZNF585B_ENST00000312908.5_Missense_Mutation_p.H352Y|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGCTCTGATGAACACTGAAC	0.458000													8	80					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13443692	13443692	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:13443692G>A	ENST00000360228.5	-	9	1245	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P416S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	416					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCATCAAAGGGATGCCTCTGC	0.567000													3	26					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1279761	1279761	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr10:1279761G>A	ENST00000381312.1	-	6	1713	c.1388C>T	c.(1387-1389)tCg>tTg	p.S463L	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	463	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CACGAATATCGATCGCTCTGA	0.527000													7	37					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73205311	73205311	+	Silent	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr5:73205311C>T	ENST00000545377.1	+	34	4412	c.4236C>T	c.(4234-4236)ctC>ctT	p.L1412L	ARHGEF28_ENST00000512883.1_Silent_p.L332L|ARHGEF28_ENST00000296799.4_Silent_p.L1099L|ARHGEF28_ENST00000513042.2_Silent_p.L1412L|ARHGEF28_ENST00000426542.2_Silent_p.L1412L|ARHGEF28_ENST00000437974.1_Silent_p.L1412L|ARHGEF28_ENST00000287898.5_Silent_p.L1368L|ARHGEF28_ENST00000296794.6_Silent_p.L1412L	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		GCCTGTCTCTCGGCCACTCTA	0.607000													4	12					0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74799858	74799858	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr11:74799858C>T	ENST00000305159.3	-	1	941	c.901G>A	c.(901-903)Gat>Aat	p.D301N		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GCCTTTACATCCCTGTTTCTC	0.483000													14	58					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756264	10756264	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr8:10756264A>G	ENST00000416569.2	-	3	1150	c.1124T>C	c.(1123-1125)tTt>tCt	p.F375S	XKR6_ENST00000304437.2_Missense_Mutation_p.F96S	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	375						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AAAGAGGGCAAAAGAGATCAC	0.547000													4	46					0	0	1	0	0
NDUFB7	4713	broad.mit.edu	37	19	14677067	14677067	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr19:14677067G>A	ENST00000215565.2	-	3	353	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	98					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8					NADH(DB00157)	TCCTTCATGCGCATCACATAG	0.667000													3	39					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40582260	40582260	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr15:40582260G>A	ENST00000260402.3	-	30	3482	c.3233C>T	c.(3232-3234)tCc>tTc	p.S1078F	PLCB2_ENST00000456256.2_Missense_Mutation_p.S1063F|PLCB2_ENST00000557821.1_Missense_Mutation_p.S1074F	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1078					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTGGATGTGGGAGTTGTTAAT	0.468000													6	43					0	0	1	0	0
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243																											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													3	4	---	---	---	---					
DST	667	broad.mit.edu	37	6	56501426	56501426	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr6:56501426delG	ENST00000370754.5	-	22	2889	c.2890delC	c.(2890-2892)agfs	p.Q964fs	DST_ENST00000370788.2_Frame_Shift_Del_p.Q786fs|DST_ENST00000370769.4_Frame_Shift_Del_p.Q786fs|DST_ENST00000421834.2_Frame_Shift_Del_p.Q786fs|DST_ENST00000361203.3_Frame_Shift_Del_p.Q786fs|DST_ENST00000244364.6_Frame_Shift_Del_p.Q460fs|DST_ENST00000312431.6_Frame_Shift_Del_p.Q786fs|DST_ENST00000370765.6_Frame_Shift_Del_p.Q460fs|DST_ENST00000446842.2_Frame_Shift_Del_p.Q460fs|DST_ENST00000518935.1_Frame_Shift_Del_p.Q460fs			Q03001	DYST_HUMAN	dystonin	786					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)			CAGCTCCACTGCGTCTGCATT	0.448													19	82	---	---	---	---					
RFC3	5983	broad.mit.edu	37	13	34398063	34398063	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FS-A4F8-06A-11D-A25O-08	TCGA-FS-A4F8-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A893974E-B95F-4FD4-952A-6500E12F7663	B0911371-FC4D-4045-B78E-769136C7A6B0	g.chr13:34398063delA	ENST00000380071.3	+	3	365	c.235delA	c.(235-237)aafs	p.K81fs	RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	81					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GACTCCATCTAAAAAAAAAAT	0.269													5	8	---	---	---	---					
