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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													8	126					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133946902	133946902	+	Missense_Mutation	SNP	C	C	T	rs149131135	byFrequency	TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr9:133946902C>T	ENST00000361069.4	+	18	3234	c.3101C>T	c.(3100-3102)aCg>aTg	p.T1034M	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1034	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGACTTTGACGGAGGGGTGG	0.622000													29	90					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33955863	33955863	+	Silent	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr15:33955863C>T	ENST00000389232.4	+	36	5614	c.5544C>T	c.(5542-5544)ctC>ctT	p.L1848L	RYR3_ENST00000415757.3_Silent_p.L1848L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1848	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACAATGAGCTCATGCAGGCCC	0.577000													14	14					0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156926	26156926	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:26156926G>C	ENST00000304218.3	+	1	368	c.308G>C	c.(307-309)gGt>gCt	p.G103A		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	103	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GGCGCGTCGGGTTCCTTCAAA	0.612000													16	147					0	0	1	0	0
PTGES3	10728	broad.mit.edu	37	12	57065601	57065601	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr12:57065601T>C	ENST00000262033.6	-	4	517	c.217A>G	c.(217-219)Att>Gtt	p.I73V	PTGES3_ENST00000448157.2_Missense_Mutation_p.I73V|PTGES3_ENST00000436399.2_Intron|PTGES3_ENST00000456859.2_Intron|PTGES3_ENST00000414274.3_Missense_Mutation_p.I73V|PTGES3_ENST00000537473.1_5'UTR	NM_006601.5	NP_006592.3	Q15185	TEBP_HUMAN	prostaglandin E synthase 3 (cytosolic)	73	CS.				chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance	cytosol|telomerase holoenzyme complex	prostaglandin-E synthase activity|telomerase activity|unfolded protein binding			large_intestine(1)|lung(1)	2						CAACATAAAATTGATCTGTCC	0.353000													27	69					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606127	21606127	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr3:21606127A>G	ENST00000281523.2	-	3	733	c.215T>C	c.(214-216)cTt>cCt	p.L72P	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	72						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TCGGTGGGGAAGAGGAACCCC	0.328000													22	155					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61988190	61988190	+	Silent	SNP	A	A	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:61988190A>G	ENST00000392824.4	-	2	166	c.105T>C	c.(103-105)ctT>ctC	p.L35L	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000309894.5_Silent_p.L35L|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	35						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CCTCTTTAAAAAGCCTGGATA	0.597000													18	166					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44171530	44171530	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr12:44171530G>C	ENST00000431837.1	+	6	750	c.442G>C	c.(442-444)Gac>Cac	p.D148H	IRAK4_ENST00000448290.2_Missense_Mutation_p.D272H|IRAK4_ENST00000551736.1_Missense_Mutation_p.D272H|IRAK4_ENST00000440781.2_Missense_Mutation_p.D148H	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	272					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|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTCATTGCTAGACAGACTCTC	0.338000													10	126					0	0	1	0	0
NRSN2	80023	broad.mit.edu	37	20	334238	334238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr20:334238C>T	ENST00000382291.3	+	4	814	c.574C>T	c.(574-576)Caa>Taa	p.Q192*	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Nonsense_Mutation_p.Q192*	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	192						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CCCCTTTGGGCAATCTTCTGT	0.592000													15	224					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165961555	165961555	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr4:165961555G>A	ENST00000512596.1	+	3	547	c.331G>A	c.(331-333)Gat>Aat	p.D111N	TRIM60_ENST00000341062.5_Missense_Mutation_p.D111N|TRIM60_ENST00000508504.1_Missense_Mutation_p.D111N	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	111						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CTGTGTTAAAGATCTAGAGAT	0.408000													11	71					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64678575	64678575	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:64678575G>A	ENST00000421419.2	-	10	1515	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ATG2A_ENST00000377264.3_Silent_p.F467F			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	467							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CTCGGGAACCGAAGGGCCCAT	0.597000													37	69					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145522979	145522979	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr5:145522979T>A	ENST00000394434.2	-	19	2039	c.1873A>T	c.(1873-1875)Att>Ttt	p.I625F	LARS_ENST00000274562.9_Missense_Mutation_p.I598F|LARS_ENST00000545646.1_Missense_Mutation_p.I579F|LARS_ENST00000510191.1_Missense_Mutation_p.I571F	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	625					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ACCAACCTAATGCCCAGCGGA	0.373000													100	260					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85452024	85452024	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr15:85452024C>G	ENST00000394573.1	+	9	995	c.793C>G	c.(793-795)Cag>Gag	p.Q265E	SLC28A1_ENST00000537624.1_Missense_Mutation_p.Q265E|SLC28A1_ENST00000286749.3_Missense_Mutation_p.Q265E|SLC28A1_ENST00000538177.1_Missense_Mutation_p.Q265E|SLC28A1_ENST00000537216.1_Missense_Mutation_p.Q265E|SLC28A1_ENST00000537703.1_Missense_Mutation_p.Q187E	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	265					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTTGCCTTTCAGGTCAGCTT	0.577000													18	47					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37365709	37365709	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr3:37365709C>A	ENST00000361924.2	+	14	2706	c.2332C>A	c.(2332-2334)Cat>Aat	p.H778N	GOLGA4_ENST00000356847.4_Missense_Mutation_p.H800N|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	778	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCATCAGGCTCATGTAGAAAA	0.423000													73	103					7.07328e-35	7.99189e-35	1	1	0
DDAH2	23564	broad.mit.edu	37	6	31695394	31695394	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:31695394G>A	ENST00000375792.3	-	6	1297	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F	DDAH2_ENST00000375789.2_Missense_Mutation_p.L223F|DDAH2_ENST00000375787.2_Missense_Mutation_p.L223F|DDAH2_ENST00000480913.1_5'UTR			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	223					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	CCAGGACGAAGAAAGAGACAG	0.587000													141	234					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58030927	58030927	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr14:58030927C>T	ENST00000556826.1	-	8	1620	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	SLC35F4_ENST00000339762.6_Missense_Mutation_p.D498N|SLC35F4_ENST00000554729.1_Missense_Mutation_p.D339N	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAGTCACATCATCCACATGC	0.502000													9	39					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18393545	18393545	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr3:18393545G>A	ENST00000338745.6	-	10	3452	c.1718C>T	c.(1717-1719)gCg>gTg	p.A573V	SATB1_ENST00000454909.2_Missense_Mutation_p.A573V|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.A573V	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	573					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTGATGCACCGCGTTGCTCTC	0.498000													28	235					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461568	50461568	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr19:50461568C>G	ENST00000447370.2	-	8	1713	c.1623G>C	c.(1621-1623)caG>caC	p.Q541H	SIGLEC11_ENST00000426971.2_Intron|CTC-326K19.6_ENST00000451973.1_Missense_Mutation_p.Q27H	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	541					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGAGCCACTCTGGGCCCCGT	0.632000													28	57					0	0	1	0	0
KCNIP3	30818	broad.mit.edu	37	2	96040071	96040071	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr2:96040071C>T	ENST00000295225.5	+	3	344	c.209C>T	c.(208-210)tCc>tTc	p.S70F	KCNIP3_ENST00000468529.1_Missense_Mutation_p.S44F|KCNIP3_ENST00000360990.3_Missense_Mutation_p.S70F|KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	70	EF-hand 1; degenerate.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	p.S70C(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CTGGAGCTGTCCACGGTGCGC	0.597000													34	89					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33038574	33038574	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr3:33038574G>A	ENST00000307363.5	-	16	2141	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L	GLB1_ENST00000399402.3_Missense_Mutation_p.P636L|GLB1_ENST00000307377.8_Missense_Mutation_p.P535L|GLB1_ENST00000445488.2_Missense_Mutation_p.P714L	NM_000404.2	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1	666					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GTTTTTTTGCGGGGGTGGGGG	0.483000													64	125					0	0	1	0	0
C6orf136	221545	broad.mit.edu	37	6	30618839	30618839	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:30618839G>C	ENST00000293604.6	+	3	1279	c.1086G>C	c.(1084-1086)gaG>gaC	p.E362D	C6orf136_ENST00000376473.5_Missense_Mutation_p.E181D|C6orf136_ENST00000376471.4_Missense_Mutation_p.E47D|C6orf136_ENST00000528347.2_Missense_Mutation_p.E38D	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	181										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCATCAATGAGATCCTCAACA	0.488000													37	299					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76255837	76255837	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:76255837G>A	ENST00000529032.1	+	18	3244	c.3244G>A	c.(3244-3246)Gct>Act	p.A1082T	C11orf30_ENST00000524767.1_Missense_Mutation_p.A1097T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A984T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A1083T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A991T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A1083T|C11orf30_ENST00000343878.3_Missense_Mutation_p.A1082T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A1082T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1082	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GTCGCTCCCAGCTTCTTCAGA	0.478000													8	97					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21825544	21825544	+	RNA	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:21825544C>T	ENST00000426869.3	+	0	248					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		gcgcggcatcccatcttcagg	0.637000													75	86					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101493479	101493479	+	Silent	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr12:101493479C>T	ENST00000392979.3	+	21	2386	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F	ANO4_ENST00000392977.3_Silent_p.F710F|ANO4_ENST00000550015.1_Silent_p.F230F|ANO4_ENST00000299222.9_Silent_p.F230F	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	710						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATGGACTCTTCGATGAATACT	0.333000										HNSCC(74;0.22)			23	67					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													4	88					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371091	240371091	+	Silent	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:240371091C>T	ENST00000319653.9	+	5	3209	c.2979C>T	c.(2977-2979)ccC>ccT	p.P993P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	993	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCACTTCCCGGAGCGGGCA	0.711000													10	53					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175479	207175479	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr2:207175479G>A	ENST00000374423.3	+	5	6613	c.6227G>A	c.(6226-6228)cGt>cAt	p.R2076H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2076							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTGAGAGGCGTAACTGGGTT	0.393000													33	41					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108117739	108117739	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:108117739A>G	ENST00000278616.4	+	8	1335	c.950A>G	c.(949-951)gAt>gGt	p.D317G	ATM_ENST00000452508.2_Missense_Mutation_p.D317G	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	317					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AACTTATATGATCTGCTAGTG	0.294000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			36	55					0	0	1	0	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727310	25727310	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:25727310G>A	ENST00000274764.2	+	1	174	c.174G>A	c.(172-174)tcG>tcA	p.S58S		NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	58					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						GCATCTCTTCGAAAGCTATGA	0.458000													45	272					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085406	64085406	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr3:64085406C>T	ENST00000295902.6	-	8	2441	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G675E|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	619						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTGGAGGTTTCCCTCCATCTC	0.572000													30	215					0	0	1	0	0
BRMS1	25855	broad.mit.edu	37	11	66108764	66108764	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:66108764C>G	ENST00000359957.3	-	4	431	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	BRMS1_ENST00000425825.2_Missense_Mutation_p.E91Q	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	91					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CCCACTTCCTCCAGCCGCAAC	0.607000													10	76					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52329810	52329810	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:52329810A>G	ENST00000371068.5	+	6	1137	c.1034A>G	c.(1033-1035)tAt>tGt	p.Y345C	EFHC1_ENST00000433625.2_Missense_Mutation_p.Y254C|EFHC1_ENST00000538167.1_Missense_Mutation_p.Y326C	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	345	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TTCTTCATTTATGATTGTGAT	0.403000													39	75					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17309002	17309002	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr19:17309002G>C	ENST00000595618.1	+	24	4275	c.4123G>C	c.(4123-4125)Gaa>Caa	p.E1375Q	MYO9B_ENST00000594824.1_Missense_Mutation_p.E1375Q|MYO9B_ENST00000397274.2_Missense_Mutation_p.E1375Q	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1375	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCTGCAGCAGAAACCACGGA	0.617000													6	43					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27255279	27255279	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr13:27255279G>T	ENST00000361042.4	+	8	1021	c.796G>T	c.(796-798)Gct>Tct	p.A266S	WASF3_ENST00000335327.5_Missense_Mutation_p.A269S			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	269					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TTCCTATGCAGCTGGTGACGT	0.607000													64	159					3.61411e-23	4.01397e-23	1	1	0
FAM227B	196951	broad.mit.edu	37	15	49663592	49663592	+	Silent	SNP	G	G	A	rs145082626		TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr15:49663592G>A	ENST00000299338.6	-	12	1320	c.1017C>T	c.(1015-1017)atC>atT	p.I339I		NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TATTGAAGTCGATACCTAAAA	0.328000													73	125					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555353	182555353	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:182555353C>T	ENST00000367559.3	-	2	842	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	RNASEL_ENST00000444138.1_Missense_Mutation_p.A197T|RNASEL_ENST00000539397.1_Missense_Mutation_p.A197T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	197					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTGTCACAGGCGTTTACATCT	0.527000													16	139					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113439521	113439521	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr13:113439521G>C	ENST00000487903.1	+	2	200	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	ATP11A_ENST00000375645.3_Missense_Mutation_p.E38Q|ATP11A_ENST00000375630.2_Missense_Mutation_p.E38Q|ATP11A_ENST00000283558.8_Missense_Mutation_p.E38Q			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	38					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	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_lung(25;0.134)|all_epithelial(44;0.141)				TCCGGGCGCAGAGGCCTACAT	0.557000											OREG0003855	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	147					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11454225	11454225	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:11454225G>A	ENST00000227756.4	-	3	949	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		GGGGGCGTGCGTTCCATGGCC	0.577000													5	20					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113192271	113192271	+	Silent	SNP	A	A	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr9:113192271A>T	ENST00000401783.2	-	34	5880	c.5544T>A	c.(5542-5544)ggT>ggA	p.G1848G	SVEP1_ENST00000374469.1_Silent_p.G1825G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1848	Sushi 8.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAGCCGGTTTACCACATGAAA	0.348000													35	48					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701260	8701260	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:8701260C>T	ENST00000329805.4	-	1	1407	c.1179G>A	c.(1177-1179)atG>atA	p.M393I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	393						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CATGGTCCTTCATGTGCCAGA	0.552000													17	103					0	0	1	0	0
OXT	5020	broad.mit.edu	37	20	3052875	3052875	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr20:3052875G>A	ENST00000217386.2	+	2	309	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	91					signal transduction		neurohypophyseal hormone activity			lung(2)	2					Oxytocin(DB00107)	GCCAGAAGGCGTGCGGGAGCG	0.766000													7	31					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37253046	37253046	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:37253046T>G	ENST00000310758.4	-	12	1495	c.848A>C	c.(847-849)cAg>cCg	p.Q283P	ELMO1_ENST00000448602.1_Missense_Mutation_p.Q283P|ELMO1_ENST00000442504.1_Missense_Mutation_p.Q283P	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	283					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GATGGCCCGCTGGGCTCGGAT	0.443000													4	54					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169773374	169773374	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:169773374G>A	ENST00000286031.6	+	6	1171	c.471G>A	c.(469-471)atG>atA	p.M157I	C1orf112_ENST00000456684.1_Missense_Mutation_p.M215I|C1orf112_ENST00000359326.4_Missense_Mutation_p.M157I|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Missense_Mutation_p.M128I	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	157										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTTGAATATGGTAATAGGTG	0.323000													96	155					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4794934	4794934	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:4794934G>C	ENST00000355280.6	+	16	2120	c.1924G>C	c.(1924-1926)Gac>Cac	p.D642H	MINK1_ENST00000347992.7_Missense_Mutation_p.D642H|MINK1_ENST00000453408.3_Missense_Mutation_p.D622H	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	642					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCAGAATTCAGACCCCACCTC	0.662000													10	7					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	90					0	0	1	0	0
ELK3	2004	broad.mit.edu	37	12	96640905	96640905	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr12:96640905C>T	ENST00000228741.3	+	3	721	c.395C>T	c.(394-396)aCg>aTg	p.T132M	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	132					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTCAGAAGCACGAGCCGCAAC	0.612000													4	32					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25367381	25367381	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr13:25367381G>A	ENST00000255324.5	+	10	1189	c.1137G>A	c.(1135-1137)caG>caA	p.Q379Q	RNF17_ENST00000381921.1_Silent_p.Q379Q|RNF17_ENST00000255325.6_Silent_p.Q379Q|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	379					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCCAGCCACAGAAAGACGTTG	0.428000													111	192					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30186505	30186505	+	Silent	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr22:30186505C>G	ENST00000397771.2	-	20	2232	c.2055G>C	c.(2053-2055)ctG>ctC	p.L685L	ASCC2_ENST00000307790.3_Silent_p.L685L|ASCC2_ENST00000542393.1_Silent_p.L609L			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CCTTCTCTCTCAGCACTGCAG	0.587000													7	71					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201984377	201984377	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:201984377C>T	ENST00000359651.3	+	8	4234	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.R348W|ELF3_ENST00000367283.3_Missense_Mutation_p.R348W			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	348					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGTGGATGGCCGGCGACTCGT	0.557000													37	93					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88986632	88986632	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr4:88986632G>A	ENST00000237596.2	+	11	2291	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q	PKD2_ENST00000508588.1_Missense_Mutation_p.R160Q|PKD2_ENST00000502363.1_Missense_Mutation_p.R160Q|PKD2_ENST00000511337.1_3'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	742	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GACGAACTTCGACAAGATCTC	0.403000													18	274					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577511	7577511	+	Missense_Mutation	SNP	A	A	T	rs28934577		TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:7577511A>T	ENST00000420246.2	-	7	902	c.770T>A	c.(769-771)cTg>cAg	p.L257Q	TP53_ENST00000413465.2_Missense_Mutation_p.L257Q|TP53_ENST00000445888.2_Missense_Mutation_p.L257Q|TP53_ENST00000455263.2_Missense_Mutation_p.L257Q|TP53_ENST00000359597.4_Missense_Mutation_p.L257Q|TP53_ENST00000269305.4_Missense_Mutation_p.L257Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	257	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> P (in sporadic cancers; somatic mutation).|L -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934577).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L257Q(8)|p.L257P(8)|p.L257fs*6(2)|p.?(1)|p.T256fs*87(1)|p.L257R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAGTCTTCCAGTGTGATGAT	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	76					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099702	142099702	+	RNA	SNP	T	T	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:142099702T>G	ENST00000390359.3	-	0	138																											TCCTGTCCTCTCTTTGCGACT	0.473000													10	106					0	0	1	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280193	39280193	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:39280193C>T	ENST00000394014.1	-	1	226	c.182G>A	c.(181-183)tGc>tAc	p.C61Y		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	61	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGGGCGGCAGCAGGTGGG	0.672000													11	166					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53421522	53421522	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr13:53421522G>A	ENST00000377942.3	-	1	1253	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	PCDH8_ENST00000338862.4_Silent_p.N350N	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	350	Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGTCGGGTGCGTTGTCATTGA	0.736000													5	34					0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168942	60168942	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr12:60168942T>G	ENST00000261187.4	+	4	1030	c.866T>G	c.(865-867)aTg>aGg	p.M289R	SLC16A7_ENST00000547379.1_Missense_Mutation_p.M289R|SLC16A7_ENST00000552024.1_Missense_Mutation_p.M289R|SLC16A7_ENST00000552432.1_Missense_Mutation_p.M289R|SLC16A7_ENST00000543448.1_Missense_Mutation_p.M190R	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	289						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	CTATCTGTTATGGCTTTCGTT	0.383000													23	147					0	0	1	0	0
NAT6	24142	broad.mit.edu	37	3	50334066	50334066	+	Missense_Mutation	SNP	G	G	A	rs74426485	by1000genomes	TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr3:50334066G>A	ENST00000443842.1	-	2	1636	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	NAT6_ENST00000417393.1_Missense_Mutation_p.R277C|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000354862.4_Missense_Mutation_p.R299C|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|NAT6_ENST00000443094.2_Missense_Mutation_p.R277C|HYAL3_ENST00000359051.3_Intron					N-acetyltransferase 6 (GCN5-related)									p.R299C(1)		endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AATATGGGGCGCCCCCTCACA	0.547000													19	80					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89590476	89590476	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr16:89590476G>T	ENST00000268704.2	+	4	454	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	SPG7_ENST00000341316.2_Missense_Mutation_p.V147F	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	147					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CACCTTGCTGGTCATCGCGGT	0.592000													23	93					1.87028e-06	1.95257e-06	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62288108	62288108	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:62288108G>C	ENST00000378024.4	-	5	14055	c.13781C>G	c.(13780-13782)tCt>tGt	p.S4594C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4594					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCAGGCATAGAGATCTTCGG	0.493000													95	149					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810687	123810687	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:123810687C>T	ENST00000307033.2	+	1	438	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122S(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGCGTATGACCGCTACATTGC	0.517000													99	56					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93786488	93786488	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr10:93786488C>T	ENST00000265990.6	+	36	5523	c.5215C>T	c.(5215-5217)Cgg>Tgg	p.R1739W	BTAF1_ENST00000544642.1_Missense_Mutation_p.R567W	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1739	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGCCATGGACCGGGCCCATCG	0.468000													39	51					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33614798	33614798	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr3:33614798C>T	ENST00000399362.4	-	26	2880	c.2527G>A	c.(2527-2529)Gat>Aat	p.D843N	CLASP2_ENST00000307312.7_Missense_Mutation_p.D324N|CLASP2_ENST00000480013.1_Missense_Mutation_p.D623N|CLASP2_ENST00000359576.5_Missense_Mutation_p.D835N|CLASP2_ENST00000539981.1_Missense_Mutation_p.D613N|CLASP2_ENST00000468888.2_Missense_Mutation_p.D844N|CLASP2_ENST00000461133.3_Missense_Mutation_p.D602N	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	844										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTGGCGTCATCATCTGAATGC	0.393000													62	168					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													10	83					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126412578	126412578	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr4:126412578G>T	ENST00000394329.3	+	17	14614	c.14601G>T	c.(14599-14601)atG>atT	p.M4867I	FAT4_ENST00000335110.5_Missense_Mutation_p.M3108I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4867					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						CTTCCAGAATGCCCAAATTAT	0.458000													20	79					9.7654e-05	9.99518e-05	1	1	0
BHMT2	23743	broad.mit.edu	37	5	78379499	78379499	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr5:78379499G>C	ENST00000255192.3	+	7	896	c.830G>C	c.(829-831)aGa>aCa	p.R277T	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.R213T	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	277	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	AAATACGCCAGAGAGGCCTAC	0.498000													14	81					0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2893690	2893690	+	Silent	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:2893690C>G	ENST00000380698.4	-	5	611	c.522G>C	c.(520-522)ccG>ccC	p.P174P		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	174					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TTTCGTCAAACGGTTCATTCC	0.403000													19	266					0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67205880	67205880	+	Silent	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:67205880C>T	ENST00000393893.1	-	12	1540	c.1437G>A	c.(1435-1437)gaG>gaA	p.E479E	CORO1B_ENST00000341356.5_Silent_p.E479E|CORO1B_ENST00000539724.1_5'UTR	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	479					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GGCCCAGCTGCTCCTCCAGGC	0.692000													8	118					0	0	1	0	0
DECR1	1666	broad.mit.edu	37	8	91013751	91013751	+	Silent	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr8:91013751C>T	ENST00000220764.2	+	1	119	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_5'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	11					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTTCTTTACTCTGGGGTCCCG	0.677000											OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	56					0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178820444	178820444	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:178820444G>A	ENST00000234816.2	-	6	1743	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	ANGPTL1_ENST00000367629.1_Silent_p.C432C|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	432	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GAAAGTGGGCGCAGTTTCCTT	0.388000													13	98					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20598181	20598181	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr4:20598181A>G	ENST00000504154.1	+	32	3716	c.3464A>G	c.(3463-3465)aAg>aGg	p.K1155R	SLIT2_ENST00000503837.1_Missense_Mutation_p.K1151R|SLIT2_ENST00000273739.5_Missense_Mutation_p.K1168R|SLIT2_ENST00000503823.1_Missense_Mutation_p.K1147R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1155	EGF-like 6.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAGGGAGAAAAGTGTGAAAAA	0.403000													24	62					0	0	1	0	0
CCNH	902	broad.mit.edu	37	5	86690819	86690819	+	Silent	SNP	T	T	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr5:86690819T>C	ENST00000508855.1	-	7	805	c.753A>G	c.(751-753)ttA>ttG	p.L251L	CCNH_ENST00000504878.1_Intron|CCNH_ENST00000256897.4_Intron			P51946	CCNH_HUMAN	cyclin H	0					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CCAGAATGTATAACAAAAATA	0.338000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					55	137					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202864796	202864796	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:202864796C>T	ENST00000367261.3	-	8	1207	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	KLHL12_ENST00000367259.1_Missense_Mutation_p.R63Q|KLHL12_ENST00000435533.3_Missense_Mutation_p.R368Q	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	330					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GACGTAGATCCGGTCATGAAG	0.493000													13	98					0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101256983	101256983	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:101256983C>G	ENST00000223167.4	-	7	718	c.541G>C	c.(541-543)Gaa>Caa	p.E181Q		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	181	EF-hand 2.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						ATAAGTTTTTCTTTGATGCTG	0.562000													45	108					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961468	34961468	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chrX:34961468G>A	ENST00000329357.5	+	1	556	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	174										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GAAGACAACCGAGGTACCCAC	0.607000													12	41					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2051696	2051696	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr16:2051696C>A	ENST00000563630.1	-	6	978	c.736G>T	c.(736-738)Gtt>Ttt	p.V246F	ZNF598_ENST00000431526.1_Missense_Mutation_p.V301F|ZNF598_ENST00000562103.1_Missense_Mutation_p.V246F			Q86UK7	ZN598_HUMAN	zinc finger protein 598	301						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCGCCACCAACGACCCCTGCG	0.692000													5	34					0.014758	0.0148148	1	1	0
SORCS3	22986	broad.mit.edu	37	10	107005382	107005382	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr10:107005382G>A	ENST00000369701.3	+	21	3178	c.2951G>A	c.(2950-2952)gGg>gAg	p.G984E	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	984						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGGCTGCTGGGAATGCCCTC	0.483000													31	112					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62286481	62286481	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:62286481G>C	ENST00000378024.4	-	5	15682	c.15408C>G	c.(15406-15408)atC>atG	p.I5136M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5136					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTCGCCTTGATGTCAAGAC	0.542000													35	67					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505415	32505415	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr8:32505415C>T	ENST00000520502.2	+	1	179	c.179C>T	c.(178-180)gCg>gTg	p.A60V	NRG1_ENST00000287845.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000520407.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCCTGCTGTGCGTGCCTAGAA	0.607000													12	61					0	0	1	0	0
EIF3D	8664	broad.mit.edu	37	22	36919946	36919946	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr22:36919946C>T	ENST00000216190.8	-	5	758	c.388G>A	c.(388-390)Gag>Aag	p.E130K	EIF3D_ENST00000541106.1_Missense_Mutation_p.E81K|EIF3D_ENST00000405442.1_Missense_Mutation_p.E130K	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	130						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TCTCACCTCTCTTTCTGTTTG	0.507000													28	164					0	0	1	0	0
KCNS1	3787	broad.mit.edu	37	20	43726506	43726506	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr20:43726506G>C	ENST00000306117.1	-	4	1303	c.907C>G	c.(907-909)Cac>Gac	p.H303D	KCNS1_ENST00000537075.1_Missense_Mutation_p.H303D	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	303						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				TTGAGCGGGTGGCAGAAGAAG	0.637000													4	40					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799048	212799048	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:212799048G>C	ENST00000294829.3	+	1	1260	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	277										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGGGATTAAAGAGgcagcagc	0.552000													45	129					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70065826	70065826	+	RNA	SNP	T	T	C	rs3169319	by1000genomes	TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr16:70065826T>C	ENST00000531894.1	-	0	796					NR_003610.1													p.M209V(4)									GATCCAAACATAGTGTTACAG	0.453000													7	175					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121682795	121682795	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:121682795G>A	ENST00000393386.2	+	22	6346	c.5935G>A	c.(5935-5937)Gag>Aag	p.E1979K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E1112K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1979	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGTACAAACTGAGGTATGATT	0.333000													10	131					0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126655268	126655268	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr10:126655268C>G	ENST00000359653.4	+	2	1291	c.920C>G	c.(919-921)tCt>tGt	p.S307C		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	307					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AATCGTCCTTCTGCCTTTGAT	0.453000													20	183					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58238843	58238843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr19:58238843G>T	ENST00000317398.6	-	1	149	c.54C>A	c.(52-54)tgC>tgA	p.C18*	ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_Nonsense_Mutation_p.C18*|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGGGACGCAGGCACTTCCGTC	0.682000													11	85					0.00829132	0.00838773	1	1	0
MAPK7	5598	broad.mit.edu	37	17	19284257	19284257	+	Silent	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:19284257C>G	ENST00000308406.5	+	4	1121	c.735C>G	c.(733-735)ctC>ctG	p.L245L	MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Silent_p.L245L|MAPK7_ENST00000299612.7_Silent_p.L106L|MAPK7_ENST00000395604.3_Silent_p.L245L	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	245	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTATTGACCTCTGGTCTGTGG	0.542000													47	15					0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76507118	76507118	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:76507118C>T	ENST00000527881.1	+	2	1484	c.458C>T	c.(457-459)aCg>aTg	p.T153M	TSKU_ENST00000333090.4_Missense_Mutation_p.T153M			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	153						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCTTCACGACGCACAGTCAG	0.657000													31	79					0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174235277	174235277	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr4:174235277G>T	ENST00000265000.4	+	9	1641	c.1558G>T	c.(1558-1560)Gat>Tat	p.D520Y		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	520					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		AATAGCTTATGATATCACCTC	0.398000													41	90					2.2871e-25	2.55099e-25	1	1	0
PANK1	53354	broad.mit.edu	37	10	91348517	91348517	+	Silent	SNP	C	C	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr10:91348517C>A	ENST00000307534.4	-	6	1784	c.1629G>T	c.(1627-1629)gtG>gtT	p.V543V	PANK1_ENST00000322191.6_Silent_p.V259V|PANK1_ENST00000371774.2_Silent_p.V345V|PANK1_ENST00000342512.3_Silent_p.V318V	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	543					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TTCCAACAAACACAACTCTGT	0.363000													10	156					5.50884e-06	5.72831e-06	1	1	0
DNAH6	1768	broad.mit.edu	37	2	84811350	84811350	+	Silent	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr2:84811350G>C	ENST00000389394.3	+	15	2594	c.2457G>C	c.(2455-2457)gtG>gtC	p.V819V	DNAH6_ENST00000398278.2_Silent_p.V819V|DNAH6_ENST00000237449.6_Silent_p.V819V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	819	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACAACGAAGTGAATGAAGTAA	0.299000													46	84					0	0	1	0	0
SP8	221833	broad.mit.edu	37	7	20825272	20825272	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:20825272G>A	ENST00000361443.4	-	3	347	c.110C>T	c.(109-111)tCg>tTg	p.S37L	SP8_ENST00000418710.2_Missense_Mutation_p.S55L	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	37	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						AGAAGAGGACGAGGAGCGTTT	0.632000													8	82					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			11	58					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036356	177036356	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr2:177036356A>G	ENST00000468418.3	+	4	2743	c.653A>G	c.(652-654)tAc>tGc	p.Y218C	HOXD3_ENST00000249440.3_Missense_Mutation_p.Y218C|HOXD3_ENST00000410016.1_Missense_Mutation_p.Y218C			P31249	HXD3_HUMAN	homeobox D3	218					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		TTCAACCGCTACTTGTGCCGG	0.592000													8	104					0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13338067	13338067	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chrX:13338067G>A	ENST00000380622.2	-	0	451					NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like						protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AATTGTATCCGTGAGTTTCTG	0.418000													6	22					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047774	42047774	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:42047774C>T	ENST00000372584.1	-	3	3709	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E899K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E899K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E899K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	899	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCAGCTTCTCAGCTGGGAGC	0.622000													44	175					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47311518	47311518	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:47311518G>A	ENST00000342922.4	+	17	3214	c.2857G>A	c.(2857-2859)Gag>Aag	p.E953K	MADD_ENST00000349238.3_Missense_Mutation_p.E973K|MADD_ENST00000395344.3_Missense_Mutation_p.E910K|MADD_ENST00000402192.2_Missense_Mutation_p.E953K|MADD_ENST00000402799.1_Missense_Mutation_p.E910K|MADD_ENST00000406482.1_Missense_Mutation_p.E910K|MADD_ENST00000395336.3_Missense_Mutation_p.E973K|MADD_ENST00000311027.5_Missense_Mutation_p.E973K|MADD_ENST00000407859.3_Missense_Mutation_p.E930K	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	973					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GCTGGAGAGCGAGCAGCTGCG	0.607000													45	48					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			18	131					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42436301	42436301	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr15:42436301G>A	ENST00000397272.3	-	18	2114	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R673W	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	673	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	p.R673R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGCAGTCCCGCATGGGGGTG	0.587000													28	114					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12071261	12071261	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr10:12071261C>T	ENST00000356352.2	-	2	1101	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	UPF2_ENST00000357604.5_Missense_Mutation_p.V210M|UPF2_ENST00000397053.2_Missense_Mutation_p.V210M			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	210	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTTGCTTCCACGATGGAAGCT	0.413000													8	185					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16255498	16255498	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:16255498G>A	ENST00000375759.3	+	11	2967	c.2763G>A	c.(2761-2763)caG>caA	p.Q921Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	921					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGGTCTCTCAGACGGAGCCTG	0.448000													29	431					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135946549	135946549	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr9:135946549G>A	ENST00000372080.4	+	11	1685	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	CEL_ENST00000351304.7_Missense_Mutation_p.D488N	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	554					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CACAGTGACCGACCAGGAGGC	0.677000													3	35					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77758199	77758199	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:77758199G>A	ENST00000310942.4	+	5	1061	c.957G>A	c.(955-957)caG>caA	p.Q319Q		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	319					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGTGGAGCAGAAAGTGGGGA	0.682000													6	44					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580191	7580191	+	Silent	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:7580191C>G	ENST00000379802.3	+	23	4109	c.3768C>G	c.(3766-3768)ctC>ctG	p.L1256L	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1256	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGTCAGGCTCAATGACAGCA	0.453000													36	144					0	0	1	0	0
MBLAC2	153364	broad.mit.edu	37	5	89757257	89757257	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr5:89757257G>A	ENST00000316610.6	-	2	1042	c.567C>T	c.(565-567)gaC>gaT	p.D189D		NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	189							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						CATACACGACGTCTCCACTGA	0.463000													44	116					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6647218	6647218	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:6647218C>T	ENST00000299441.3	-	17	7075	c.6664G>A	c.(6664-6666)Gta>Ata	p.V2222I		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2222	Cadherin 21.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGGGTCTACGTGGAACAAT	0.592000													10	13					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906877	129906877	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr10:129906877A>G	ENST00000368654.3	-	13	3602	c.3227T>C	c.(3226-3228)cTg>cCg	p.L1076P	MKI67_ENST00000368653.3_Missense_Mutation_p.L716P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1076	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCTGGGTCCAGGATCTGCTT	0.547000													191	275					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52255970	52255970	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr3:52255970C>G	ENST00000597542.1	-	9	3391	c.2434G>C	c.(2434-2436)Gtg>Ctg	p.V812L	TLR9_ENST00000360658.2_Missense_Mutation_p.V788L|TLR9_ENST00000494383.1_Missense_Mutation_p.G941A			Q9NR96	TLR9_HUMAN	toll-like receptor 9	788					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCACACTTCACCCGGCTGGGC	0.652000													24	39					0	0	1	0	0
DCPS	28960	broad.mit.edu	37	11	126201377	126201377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:126201377C>T	ENST00000263579.4	+	3	783	c.454C>T	c.(454-456)Cga>Tga	p.R152*	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	152					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CCGCCTGATCCGAGAGACGGG	0.557000													17	132					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98146738	98146738	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr10:98146738C>A	ENST00000357947.3	-	14	2049	c.1824G>T	c.(1822-1824)gaG>gaT	p.E608D		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	608	EGF-like 1; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGGCGGCCAGCTCGTAGCCAG	0.572000													30	126					1.88708e-17	2.0522e-17	1	1	0
ESR2	2100	broad.mit.edu	37	14	64724049	64724049	+	Missense_Mutation	SNP	C	C	T	rs145661652		TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr14:64724049C>T	ENST00000557772.1	-	5	985	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	ESR2_ENST00000353772.3_Missense_Mutation_p.R329Q|ESR2_ENST00000542956.1_Missense_Mutation_p.R329Q|ESR2_ENST00000358599.5_Missense_Mutation_p.R329Q|ESR2_ENST00000553796.1_Missense_Mutation_p.R329Q|ESR2_ENST00000357782.2_Missense_Mutation_p.R329Q|ESR2_ENST00000341099.4_Missense_Mutation_p.R329Q|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Missense_Mutation_p.R329Q|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000555278.1_Missense_Mutation_p.R329Q	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	329	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CTCCAAGAGCCGCACTTGGTC	0.572000													70	139					0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2893699	2893699	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:2893699C>G	ENST00000380698.4	-	5	602	c.513G>C	c.(511-513)tgG>tgC	p.W171C		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	171					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				ACGGTTCATTCCACTTTCCTT	0.398000													16	260					0	0	1	0	0
CNTD2	79935	broad.mit.edu	37	19	40732354	40732354	+	Silent	SNP	C	C	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr19:40732354C>A	ENST00000430325.2	-	1	243	c.195G>T	c.(193-195)ctG>ctT	p.L65L	CNTD2_ENST00000433940.1_Silent_p.L65L	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	65					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						GCGCCTCCTCCAGCCCCGGCG	0.726000													10	35					2.17888e-05	2.23893e-05	1	1	0
KIAA1377	57562	broad.mit.edu	37	11	101833798	101833798	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:101833798A>G	ENST00000263468.8	+	6	2302	c.2032A>G	c.(2032-2034)Act>Gct	p.T678A	KIAA1377_ENST00000537689.1_Missense_Mutation_p.T479A	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	678							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TAGTGTTTCTACTTGTGCTGT	0.388000													73	108					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41903836	41903836	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr19:41903836G>T	ENST00000269980.2	+	1	472	c.104G>T	c.(103-105)aGa>aTa	p.R35I	CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|BCKDHA_ENST00000457836.2_Intron	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	35					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGACTGGCTAGATCTGTGAGT	0.612000													6	59					0.0215528	0.0215528	1	1	0
ZC3H14	79882	broad.mit.edu	37	14	89073637	89073637	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr14:89073637C>T	ENST00000251038.5	+	13	2023	c.1798C>T	c.(1798-1800)Cgc>Tgc	p.R600C	ZC3H14_ENST00000393514.5_Missense_Mutation_p.R575C|ZC3H14_ENST00000359301.3_Missense_Mutation_p.R435C|ZC3H14_ENST00000555900.1_Missense_Mutation_p.R302C|ZC3H14_ENST00000556945.1_Missense_Mutation_p.R469C|ZC3H14_ENST00000318308.6_Missense_Mutation_p.R171C|ZC3H14_ENST00000336693.4_Missense_Mutation_p.R435C|ZC3H14_ENST00000406216.3_Missense_Mutation_p.R146C|ZC3H14_ENST00000557607.1_Missense_Mutation_p.R289C|ZC3H14_ENST00000302216.8_Missense_Mutation_p.R444C|ZC3H14_ENST00000555755.1_Missense_Mutation_p.R595C	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	600						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ACTTTTGGAGCGCTGCAAGTA	0.458000													23	91					0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094892	139094892	+	Silent	SNP	C	C	G	rs77696415		TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:139094892C>G	ENST00000332797.6	+	1	236	c.81C>G	c.(79-81)ctC>ctG	p.L27L		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	27										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GGCTGTACCTCTTACGTCACT	0.637000													85	203					0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30690399	30690399	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:30690399C>T	ENST00000396389.1	+	2	682	c.89C>T	c.(88-90)tCt>tTt	p.S30F	TUBB_ENST00000435534.1_Missense_Mutation_p.S48F|TUBB_ENST00000327892.8_Missense_Mutation_p.S48F|TUBB_ENST00000330914.3_5'UTR|TUBB_ENST00000396384.1_5'UTR			P07437	TBB5_HUMAN	tubulin, beta class I	48					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GACCGCATCTCTGTGTACTAC	0.597000													14	97					0	0	1	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148930436	148930436	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr5:148930436A>T	ENST00000261798.5	-	1	524	c.92T>A	c.(91-93)aTc>aAc	p.I31N	CSNK1A1_ENST00000377843.2_Missense_Mutation_p.I31N|CSNK1A1_ENST00000515748.2_Missense_Mutation_p.I31N|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.I31N	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	31	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CGCCAAATAGATGTCCCCGAA	0.542000													66	82					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452655	100452655	+	Silent	SNP	C	C	G	rs148366892		TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr12:100452655C>G	ENST00000279907.7	-	14	2612	c.2400G>C	c.(2398-2400)tcG>tcC	p.S800S	UHRF1BP1L_ENST00000545232.2_Silent_p.S450S	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	800								p.S800S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTGCCTCTGACGAGGAAGGGG	0.403000													25	159					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37693174	37693174	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr8:37693174C>T	ENST00000412232.2	+	13	1949	c.1936C>T	c.(1936-1938)Ctc>Ttc	p.L646F	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	646					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCTGCAACTGCTCGTCTTCCG	0.682000													80	56					0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668448	59668448	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:59668448C>A	ENST00000521764.1	-	1	115	c.94G>T	c.(94-96)Ggt>Tgt	p.G32C		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	32					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					ACTGATTCACCACTATCAGAT	0.547000													64	91					1.53122e-18	1.67919e-18	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19651287	19651287	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr21:19651287A>G	ENST00000284885.3	-	23	2791	c.2758T>C	c.(2758-2760)Tat>Cat	p.Y920H		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	920	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTACCTTGATATACAACCGTC	0.323000													20	37					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131339209	131339209	+	Silent	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr9:131339209G>T	ENST00000372739.3	+	6	869	c.759G>T	c.(757-759)ggG>ggT	p.G253G	SPTAN1_ENST00000372731.4_Silent_p.G253G|SPTAN1_ENST00000358161.5_Silent_p.G253G	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	253					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGCTCTTTGGGGCAGCAGAAG	0.572000													28	47					3.73988e-18	4.08414e-18	1	1	0
DHX15	1665	broad.mit.edu	37	4	24529573	24529573	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr4:24529573G>C	ENST00000336812.4	-	14	2518	c.2362C>G	c.(2362-2364)Caa>Gaa	p.Q788E	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	788				KLQSKEYSQY -> QTSIQGIFTVLNSVLRTEVIERTALKD E (in Ref. 1; BAA23987).	mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TCCTTGGATTGAAGTTTGGCA	0.393000													8	95					0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113975984	113975984	+	Silent	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr13:113975984C>G	ENST00000332556.4	+	8	1250	c.1056C>G	c.(1054-1056)gtC>gtG	p.V352V	LAMP1_ENST00000397181.3_Silent_p.V299V	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	352	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CGTTTTCAGTCAATATATTCA	0.592000													29	120					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154090123	154090123	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chrX:154090123C>A	ENST00000360256.4	-	24	6793	c.6593G>T	c.(6592-6594)gGa>gTa	p.G2198V	F8_ENST00000330287.6_Missense_Mutation_p.G63V	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2198	F5/8 type C 2.		G -> V (in HEMA; severe sporadic).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACTCTCCATTCCCAATGGCAT	0.423000													112	33					7.21145e-53	8.25522e-53	1	1	0
CCM2	83605	broad.mit.edu	37	7	45108134	45108134	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:45108134C>G	ENST00000475551.1	+	5	1307	c.547C>G	c.(547-549)Ccc>Gcc	p.P183A	CCM2_ENST00000258781.6_Missense_Mutation_p.P189A|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Intron|CCM2_ENST00000541586.1_Missense_Mutation_p.P131A|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000381112.3_Missense_Mutation_p.P210A			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	189	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGCAGTTGGGCCCGTGGAGGC	0.617000													43	90					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640882	156640882	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:156640882C>T	ENST00000368223.3	-	4	3230	c.3098G>A	c.(3097-3099)gGa>gAa	p.G1033E		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1033	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCAGCCCCTCCCTTCACACT	0.667000													44	363					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84745188	84745188	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr10:84745188A>T	ENST00000372142.2	+	11	1601	c.1327A>T	c.(1327-1329)Att>Ttt	p.I443F	NRG3_ENST00000556918.1_Missense_Mutation_p.I470F|NRG3_ENST00000537893.1_Missense_Mutation_p.I290F|NRG3_ENST00000545131.1_Missense_Mutation_p.I290F|NRG3_ENST00000404547.1_Missense_Mutation_p.I664F|NRG3_ENST00000372141.2_Missense_Mutation_p.I640F|NRG3_ENST00000404576.2_Missense_Mutation_p.I444F	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	664					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GCAGATCCGAATTCTGACTGA	0.483000													9	176					0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226032929	226032929	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:226032929T>C	ENST00000366837.4	+	9	1445	c.1249T>C	c.(1249-1251)Tac>Cac	p.Y417H	EPHX1_ENST00000272167.5_Missense_Mutation_p.Y417H|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	417					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GAGGTTCAAGTACCCAAAGCT	0.552000													28	125					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	100964128	100964128	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:100964128A>C	ENST00000369162.2	-	39	6347	c.6003T>G	c.(6001-6003)caT>caG	p.H2001Q		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2001					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTCCACAGGCATGGATCAGTT	0.458000													24	157					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29116217	29116217	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr18:29116217C>G	ENST00000261590.8	+	11	1685	c.1476C>G	c.(1474-1476)atC>atG	p.I492M		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	492	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTGAAGACATCAACGACAACT	0.413000													6	79					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102818648	102818648	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:102818648G>C	ENST00000260302.3	-	8	1211	c.1183C>G	c.(1183-1185)Ctc>Gtc	p.L395V	MMP13_ENST00000340273.4_Missense_Mutation_p.L395V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	395	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAGAACAGGAGAGTCTTGCCT	0.443000													14	111					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77092648	77092648	+	Silent	SNP	T	T	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr15:77092648T>C	ENST00000563290.1	-	7	647	c.552A>G	c.(550-552)ccA>ccG	p.P184P	SCAPER_ENST00000324767.7_Silent_p.P184P|SCAPER_ENST00000538941.2_5'UTR			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	183						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TTGATGGACTTGGAATCACAT	0.353000													45	41					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62285979	62285979	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:62285979G>C	ENST00000378024.4	-	5	16184	c.15910C>G	c.(15910-15912)Ctg>Gtg	p.L5304V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5304					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCAAGTTCAGATCAAGGTCA	0.522000													50	97					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23548900	23548900	+	Silent	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr14:23548900C>T	ENST00000262710.1	-	6	2145	c.1818G>A	c.(1816-1818)ccG>ccA	p.P606P	ACIN1_ENST00000605057.1_Silent_p.P548P|ACIN1_ENST00000555053.1_Silent_p.P606P|ACIN1_ENST00000457657.1_Silent_p.P566P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	606	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGGATCTGAGCGGTGAATGAG	0.527000													102	187					0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174235265	174235265	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr4:174235265G>T	ENST00000265000.4	+	9	1629	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	516					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GTTCATGGAAGAAATAGCTTA	0.398000													42	94					1.00001e-27	1.12018e-27	1	1	0
CYB5R1	51706	broad.mit.edu	37	1	202935085	202935085	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:202935085C>A	ENST00000367249.4	-	4	349	c.275G>T	c.(274-276)aGc>aTc	p.S92I		NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	92	FAD-binding FR-type.			S -> N (in Ref. 1; AAF06147).	sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			GATGACCAGGCTGCCATCAAT	0.527000													13	48					1.49906e-05	1.54646e-05	1	1	0
EFR3A	23167	broad.mit.edu	37	8	133008705	133008705	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr8:133008705G>A	ENST00000254624.5	+	19	2343	c.2118G>A	c.(2116-2118)caG>caA	p.Q706Q	EFR3A_ENST00000519656.1_Silent_p.Q670Q|EFR3A_ENST00000334503.4_Silent_p.Q706Q	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	706						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TATCCATTCAGGTGGATATTT	0.318000													7	27					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62285546	62285546	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:62285546G>A	ENST00000378024.4	-	5	16617	c.16343C>T	c.(16342-16344)tCa>tTa	p.S5448L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5448					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTCGGTGCTGAAATCCGAGG	0.567000													53	97					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71479732	71479732	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr14:71479732C>A	ENST00000304743.2	+	11	3255	c.2809C>A	c.(2809-2811)Cta>Ata	p.L937I	PCNX_ENST00000238570.5_Missense_Mutation_p.L937I|PCNX_ENST00000439984.3_Missense_Mutation_p.L826I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	937						integral to membrane				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)		ATTGAATAGACTATTGACCAT	0.368000													21	148					4.4004e-07	4.61247e-07	1	1	0
REEP6	92840	broad.mit.edu	37	19	1496444	1496444	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr19:1496444C>T	ENST00000233596.3	+	4	613	c.509C>T	c.(508-510)aCc>aTc	p.T170I		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	170						integral to membrane				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		GCCGGAATAACCAGGAACGGT	0.662000													13	41					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11845695	11845695	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:11845695G>A	ENST00000262442.4	+	67	12804	c.12736G>A	c.(12736-12738)Gag>Aag	p.E4246K	DNAH9_ENST00000608377.1_Missense_Mutation_p.E558K|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4170K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCCAAAGTGGAGGAGCGCAC	0.542000													23	140					0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126080938	126080938	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:126080938C>G	ENST00000298317.4	-	2	255	c.202G>C	c.(202-204)Gct>Cct	p.A68P	RPUSD4_ENST00000534393.1_5'UTR|RPUSD4_ENST00000533628.1_Missense_Mutation_p.A68P	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	68					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CGCTGAACAGCGTTTGTGGAC	0.557000													94	109					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122261650	122261650	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:122261650G>A	ENST00000334010.7	-	5	1410	c.989C>T	c.(988-990)cCg>cTg	p.P330L	CADPS2_ENST00000449022.2_Missense_Mutation_p.P330L|CADPS2_ENST00000313070.7_Missense_Mutation_p.P330L|CADPS2_ENST00000412584.2_Missense_Mutation_p.P330L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	330					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						TTTAAATTCCGGACCACCTTT	0.378000													21	139					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59947181	59947181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:59947181G>A	ENST00000444766.3	-	21	3046	c.2971C>T	c.(2971-2973)Cga>Tga	p.R991*	INTS2_ENST00000251334.6_Nonsense_Mutation_p.R983*	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	991					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGAACTTCTCGAAGGTTACAG	0.408000													42	278					0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35284638	35284638	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:35284638C>T	ENST00000408931.3	-	4	1103	c.577G>A	c.(577-579)Ggt>Agt	p.G193S		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	193						nucleus	DNA binding	p.G193S(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGTTGCTCACCGGTAAAAGGA	0.383000													5	75					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4853757	4853757	+	Missense_Mutation	SNP	C	C	T	rs150412211		TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr12:4853757C>T	ENST00000252318.2	+	4	1088	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	251	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GAAAATAATACGGCATCCTGA	0.463000													29	42					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10798052	10798052	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr19:10798052G>C	ENST00000449870.1	+	18	2419	c.2102G>C	c.(2101-2103)gGg>gCg	p.G701A	ILF3_ENST00000590261.1_Missense_Mutation_p.G697A|ILF3_ENST00000588657.1_Missense_Mutation_p.G701A|ILF3_ENST00000318511.3_Missense_Mutation_p.G697A	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	697	Interaction with PRMT1.|Poly-Gly.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGGCATTCTGGGAATGCCAGT	0.642000													9	17					0	0	1	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840915	36840915	+	RNA	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr14:36840915G>A	ENST00000557188.1	+	0	546																											TGGCAAGATTGAGATACATGT	0.473000													40	37					0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43678471	43678471	+	Silent	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr15:43678471C>G	ENST00000564079.1	+	9	1197	c.957C>G	c.(955-957)ctC>ctG	p.L319L	TUBGCP4_ENST00000399460.3_Silent_p.L183L|TUBGCP4_ENST00000260383.7_Silent_p.L319L	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	319					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGCAGCCACTCTTCAGCTTGG	0.433000													17	55					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201054595	201054595	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:201054595G>A	ENST00000362061.3	-	8	1345	c.1119C>T	c.(1117-1119)ggC>ggT	p.G373G	CACNA1S_ENST00000367338.3_Silent_p.G373G	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	373	Binding to the beta subunit (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCATGACCTCGCCCTGCGTGA	0.577000											OREG0014068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	96	136					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157023793	157023793	+	Silent	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:157023793G>T	ENST00000348165.5	+	18	2613	c.2253G>T	c.(2251-2253)cgG>cgT	p.R751R		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	751	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGAAAAAGCGGATCCGTGTGC	0.428000													81	141					2.93416e-43	3.34417e-43	1	1	0
CAMLG	819	broad.mit.edu	37	5	134074314	134074314	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr5:134074314G>C	ENST00000297156.2	+	1	124	c.4G>C	c.(4-6)Gag>Cag	p.E2Q	CAMLG_ENST00000514518.1_Missense_Mutation_p.E2Q	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	2					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	CGGGAGGATGGAGTCGATGGC	0.726000													6	33					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433165	204433165	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:204433165A>T	ENST00000367187.3	-	6	1841	c.1285T>A	c.(1285-1287)Tgc>Agc	p.C429S	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.C429S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	429					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCCAGCCCGCAGGGCTTTAGC	0.547000													87	121					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110172959	110172959	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:110172959G>A	ENST00000256578.3	+	16	2610	c.2250G>A	c.(2248-2250)ccG>ccA	p.P750P	AMPD2_ENST00000528454.1_Silent_p.P632P|AMPD2_ENST00000342115.4_Silent_p.P669P|AMPD2_ENST00000393688.3_Silent_p.P631P|AMPD2_ENST00000528667.1_Silent_p.P750P|AMPD2_ENST00000358729.4_Silent_p.P675P|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	750					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCCGCTACCGGAGTACCTGT	0.617000													52	260					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5789417	5789417	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr19:5789417C>T	ENST00000309061.7	-	3	797	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	234					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTGGCTGAACCGGCGCAGGGC	0.721000													8	8					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368		TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr15:102292785C>G	ENST00000561463.1	+	0	831																		p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000													3	41					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52836750	52836750	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr3:52836750G>A	ENST00000449956.2	+	13	1643	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	546					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGCAGGAGCGGGACTACATC	0.607000													22	66					0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108552965	108552965	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr4:108552965C>A	ENST00000265174.4	-	11	1830	c.1558G>T	c.(1558-1560)Gtt>Ttt	p.V520F		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	520				IV -> MC (in Ref. 4; AAD09325).	3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TCTCGTCCAACAATGTAAAAG	0.458000													11	55					1.61879e-10	1.7387e-10	1	1	0
SHBG	6462	broad.mit.edu	37	17	7534652	7534652	+	Silent	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:7534652C>G	ENST00000380450.4	+	4	559	c.528C>G	c.(526-528)ctC>ctG	p.L176L	SHBG_ENST00000441599.2_Silent_p.L176L|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000416273.3_Silent_p.L176L|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Silent_p.L118L|SHBG_ENST00000574539.1_Silent_p.L118L|SHBG_ENST00000570547.1_Silent_p.L118L|SHBG_ENST00000340624.5_Silent_p.L118L|SHBG_ENST00000575903.1_Silent_p.L176L	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	176	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GGGGGCTGCTCTTCCCCGCTT	0.622000													10	42					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65298651	65298651	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr2:65298651A>G	ENST00000377990.2	+	3	624	c.421A>G	c.(421-423)Aca>Gca	p.T141A	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.T141A|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.T141A	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	141					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TCCCAGAACAACAACTATTTG	0.512000													61	90					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186931	140186931	+	Silent	SNP	A	A	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr5:140186931A>G	ENST00000530339.1	+	1	159	c.159A>G	c.(157-159)ggA>ggG	p.G53G	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.G53G|PCDHA4_ENST00000356878.4_Silent_p.G53G	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACCTGGGACTGGAGCTGG	0.647000													26	214					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961078	34961078	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chrX:34961078G>C	ENST00000329357.5	+	1	166	c.130G>C	c.(130-132)Gac>Cac	p.D44H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	44										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCCGCCTGTGGACACCCAGAA	0.567000													26	32					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047754	42047754	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:42047754C>G	ENST00000372584.1	-	3	3729	c.2715G>C	c.(2713-2715)aaG>aaC	p.K905N	HIVEP3_ENST00000429157.2_Missense_Mutation_p.K905N|HIVEP3_ENST00000247584.5_Missense_Mutation_p.K905N|HIVEP3_ENST00000372583.1_Missense_Mutation_p.K905N	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	905	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCAACCTCTTCTTTTTGGGTG	0.597000													51	180					0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104357040	104357040	+	Silent	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr10:104357040C>T	ENST00000369902.3	+	7	1066	c.900C>T	c.(898-900)ctC>ctT	p.L300L	SUFU_ENST00000369899.2_Silent_p.L300L|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Silent_p.L300L	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	300					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CCCGGCGACTCTCTGGCAAAG	0.612000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	76					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3990655	3990655	+	Silent	SNP	A	A	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:3990655A>T	ENST00000404826.2	+	6	1087	c.948A>T	c.(946-948)atA>atT	p.I316I	SDK1_ENST00000389531.3_Silent_p.I316I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	316	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGAATGTATAGCCAGTGCCA	0.542000													11	85					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31308861	31308861	+	Silent	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr16:31308861C>G	ENST00000544665.3	+	13	1454	c.1383C>G	c.(1381-1383)ctC>ctG	p.L461L	ITGAM_ENST00000287497.8_Silent_p.L461L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	461					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GGGCCTCCCTCTGCTCCGTGG	0.607000													49	188					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519687	113519687	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:113519687C>T	ENST00000284601.3	-	4	1528	c.1460G>A	c.(1459-1461)aGa>aAa	p.R487K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	487					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATGGAAATCTCTTCGTAAACA	0.368000													5	100					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851642	43851642	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr20:43851642C>G	ENST00000372769.3	+	2	1459	c.1369C>G	c.(1369-1371)Caa>Gaa	p.Q457E		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	457	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TAGTCAAGATCAAGAGCATGG	0.388000													68	101					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39058462	39058462	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr19:39058462C>G	ENST00000355481.4	+	92	13680	c.13549C>G	c.(13549-13551)Ccc>Gcc	p.P4517A	RYR1_ENST00000360985.3_Missense_Mutation_p.P4517A|RYR1_ENST00000359596.3_Missense_Mutation_p.P4522A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4522	Pro-rich.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCAGAGCCCCCCAAGAAGCA	0.597000													11	125					0	0	1	0	0
C6orf136	221545	broad.mit.edu	37	6	30617708	30617708	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:30617708C>T	ENST00000293604.6	+	2	1182	c.989C>T	c.(988-990)tCt>tTt	p.S330F	C6orf136_ENST00000376473.5_Missense_Mutation_p.S149F|C6orf136_ENST00000376471.4_Intron|C6orf136_ENST00000528347.2_Missense_Mutation_p.S6F	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	149										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GAACATCTGTCTGTCATGTAT	0.532000													34	198					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978482	247978482	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:247978482C>A	ENST00000357627.1	-	1	549	c.550G>T	c.(550-552)Gct>Tct	p.A184S		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CAAGAAATAGCTAATAACTGG	0.393000													45	104					5.44703e-19	5.99863e-19	1	1	0
LAMA1	284217	broad.mit.edu	37	18	6992672	6992672	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr18:6992672G>T	ENST00000389658.3	-	36	5149	c.5056C>A	c.(5056-5058)Cta>Ata	p.L1686I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1686	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGGGTAGTAGGAAATCTTCA	0.353000													13	115					7.03913e-09	7.46834e-09	1	1	0
GPER1	2852	broad.mit.edu	37	7	1131484	1131484	+	Silent	SNP	C	C	T	rs140084051		TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:1131484C>T	ENST00000397092.1	+	3	1004	c.120C>T	c.(118-120)acC>acT	p.T40T	C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397088.3_Silent_p.T40T|C7orf50_ENST00000397098.3_Intron|GPER1_ENST00000297469.3_Silent_p.T40T|GPER1_ENST00000401670.1_Silent_p.T40T|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron	NM_001039966.1	NP_001035055.1			G protein-coupled estrogen receptor 1	40																	TCCTGGGCACCGCCCTGGCCA	0.677000													48	112					0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20833801	20833801	+	Silent	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr18:20833801C>G	ENST00000256925.7	+	9	1662	c.1662C>G	c.(1660-1662)ctC>ctG	p.L554L	CABLES1_ENST00000420687.2_Silent_p.L289L|CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Silent_p.L227L	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	554					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGGGGAAACTCAACAAACAGA	0.522000													48	26					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30655651	30655651	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:30655651C>T	ENST00000389266.3	+	9	1412	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	391					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCGGAAAATGCGCCTGGGAGA	0.473000													5	139					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163828	150163828	+	Silent	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:150163828C>G	ENST00000307271.3	+	2	616	c.42C>G	c.(40-42)ctC>ctG	p.L14L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	14	Poly-Leu.					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGCGGCTCCTCCTCCTGGGAA	0.493000													51	112					0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57291024	57291024	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr3:57291024G>A	ENST00000288266.3	+	14	1339	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	398	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TCTGGAAGCTGTCACTCCTTC	0.413000													63	110					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887208	47887208	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr20:47887208C>T	ENST00000396105.1	-	3	1387	c.1141G>A	c.(1141-1143)Gtc>Atc	p.V381I	ZNFX1_ENST00000371752.1_Missense_Mutation_p.V381I|ZNFX1_ENST00000371754.4_Missense_Mutation_p.V381I	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	381							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAAGGTCTGACGAAATCTTCT	0.473000													25	168					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799571	212799571	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:212799571G>A	ENST00000294829.3	+	1	1783	c.1352G>A	c.(1351-1353)gGa>gAa	p.G451E	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	451										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AAAACAAGGGGAGACAAGATT	0.562000													23	60					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464936	25464936	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr10:25464936G>T	ENST00000376351.3	+	1	946	c.587G>T	c.(586-588)cGc>cTc	p.R196L	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	196						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAGGCCACGCGCGAGGAGAGC	0.687000													5	36					0.014758	0.0148148	1	1	0
HIF3A	64344	broad.mit.edu	37	19	46832591	46832591	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr19:46832591G>A	ENST00000339613.2	+	12	1655	c.1400G>A	c.(1399-1401)cGt>cAt	p.R467H	HIF3A_ENST00000377670.4_Missense_Mutation_p.R523H|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000600383.1_Missense_Mutation_p.R454H|HIF3A_ENST00000420102.2_Missense_Mutation_p.R472H|HIF3A_ENST00000300862.3_Missense_Mutation_p.R521H|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.R454H			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	523	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCCGGCCCCGTGCTCGGAGC	0.672000													14	117					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16528781	16528781	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr19:16528781G>A	ENST00000602009.1	-	5	1518	c.623C>T	c.(622-624)tCg>tTg	p.S208L	EPS15L1_ENST00000535753.2_Missense_Mutation_p.S362L|EPS15L1_ENST00000455140.2_Missense_Mutation_p.S362L|EPS15L1_ENST00000597937.1_Missense_Mutation_p.S362L|EPS15L1_ENST00000594975.1_Missense_Mutation_p.S362L|EPS15L1_ENST00000248070.6_Missense_Mutation_p.S362L			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	362	EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GCCTCTCTCCGAAGGCGGGAC	0.597000											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	97					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109171	21109171	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr14:21109171G>T	ENST00000320704.3	-	1	679	c.680C>A	c.(679-681)gCa>gAa	p.A227E		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GCTCAGGACTGCCAGCACAAT	0.527000													6	156					4.68919e-08	4.93499e-08	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23527470	23527470	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr5:23527470G>A	ENST00000296682.3	+	11	2455	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	758					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R758H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CGGGGCTTTCGCGATAAGTCA	0.572000										HNSCC(3;0.000094)			122	133					0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43825271	43825271	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:43825271G>T	ENST00000372462.1	+	2	495	c.292G>T	c.(292-294)Gag>Tag	p.E98*	CDC20_ENST00000310955.6_Nonsense_Mutation_p.E98*			Q12834	CDC20_HUMAN	cell division cycle 20	98					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGAGCAAGGAGAACCAGCC	0.557000													35	190					4.3181e-19	4.77552e-19	1	1	0
ZAN	7455	broad.mit.edu	37	7	100334565	100334565	+	RNA	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:100334565C>T	ENST00000542585.1	+	0	535				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGTCTTGGGGCGCCCAGCTCA	0.662000													4	22					0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95789941	95789941	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr8:95789941G>T	ENST00000414645.2	+	14	1601	c.1502G>T	c.(1501-1503)gGt>gTt	p.G501V		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	501						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					GCAGCATTTGGTGTATGTTCT	0.378000													79	445					6.44082e-31	7.24592e-31	1	1	0
TTN	7273	broad.mit.edu	37	2	179455906	179455906	+	Silent	SNP	C	C	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr2:179455906C>A	ENST00000589042.1	-	304	60770	c.60546G>T	c.(60544-60546)ctG>ctT	p.L20182L	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L11309L|TTN_ENST00000591111.1_Silent_p.L18541L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.L11117L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.L17614L|TTN_ENST00000359218.5_Silent_p.L11242L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18541	Fibronectin type-III 46.						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)			GAGTAACATCCAGAATATTAA	0.423000													64	257					2.89935e-36	3.29014e-36	1	1	0
FSCN3	29999	broad.mit.edu	37	7	127235518	127235518	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:127235518G>A	ENST00000265825.5	+	2	521	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_3'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	101						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CGTTTCCACCGGAACAGCAAG	0.562000													34	94					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95923534	95923534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr14:95923534G>A	ENST00000334258.5	-	4	783	c.769C>T	c.(769-771)Cag>Tag	p.Q257*	SYNE3_ENST00000557275.1_Nonsense_Mutation_p.Q257*|SYNE3_ENST00000553340.1_Nonsense_Mutation_p.Q257*	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						GAGAGGCGCTGCGTGATGGGC	0.577000													26	168					0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149607850	149607850	+	Splice_Site	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr5:149607850C>T	ENST00000348628.6	-	16	1775		c.e16-1		CAMK2A_ENST00000351010.6_Splice_Site|CAMK2A_ENST00000398376.3_Splice_Site	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha						interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACATCTTCCTGGGGGAAAG	0.557000													6	59					0	0	1	0	0
BRAP	8315	broad.mit.edu	37	12	112082174	112082174	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr12:112082174G>A	ENST00000419234.4	-	12	1801	c.1608C>T	c.(1606-1608)gtC>gtT	p.V536V	BRAP_ENST00000327551.6_Silent_p.V506V|BRAP_ENST00000539060.1_Silent_p.V357V	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	536					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						GGTAGAACATGACGTCACGCA	0.552000													47	90					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32407733	32407733	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chrX:32407733T>G	ENST00000357033.4	-	32	4609	c.4403A>C	c.(4402-4404)gAg>gCg	p.E1468A	DMD_ENST00000378677.2_Missense_Mutation_p.E1464A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1468	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAGACGCTGCTCAAAATTGGC	0.378000													8	94					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79117796	79117796	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr9:79117796A>T	ENST00000442371.1	+	3	1438	c.499A>T	c.(499-501)Atg>Ttg	p.M167L	GCNT1_ENST00000444201.2_Missense_Mutation_p.M167L|GCNT1_ENST00000536223.1_Missense_Mutation_p.M167L|GCNT1_ENST00000376730.4_Missense_Mutation_p.M167L	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	167	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AGCTGCAGTGATGGGCATCGC	0.478000													42	110					0	0	1	0	0
C5orf28	64417	broad.mit.edu	37	5	43454014	43454014	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr5:43454014G>C	ENST00000500337.2	-	4	389	c.58C>G	c.(58-60)Ctt>Gtt	p.L20V	C5orf28_ENST00000511525.1_Intron|C5orf28_ENST00000397080.3_Missense_Mutation_p.L20V|C5orf28_ENST00000512085.1_Missense_Mutation_p.L20V|C5orf28_ENST00000537319.1_Intron|C5orf28_ENST00000510130.1_Intron			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	20						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					CTGGAAATAAGAGATTCAGTG	0.438000													24	157					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116424266	116424266	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr12:116424266G>A	ENST00000281928.3	-	19	4349	c.4143C>T	c.(4141-4143)ccC>ccT	p.P1381P		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1381	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GAGTGGGGATGGGCAACGGCT	0.488000													16	94					0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90427380	90427380	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr10:90427380G>A	ENST00000394375.3	+	4	303	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	LIPF_ENST00000355843.2_Missense_Mutation_p.E64K|LIPF_ENST00000608620.1_Missense_Mutation_p.E54K|LIPF_ENST00000238983.4_Missense_Mutation_p.E54K	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	54					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		AGTTGTGACTGAAGATGGTTA	0.323000													17	140					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75472066	75472066	+	RNA	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr3:75472066G>C	ENST00000459803.1	-	0	1075					NR_024241.1																						TTCTTCCCATGAGATTGACTT	0.418000													37	101					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790479	133790479	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:133790479G>A	ENST00000321016.8	-	18	3371	c.3141C>T	c.(3139-3141)ttC>ttT	p.F1047F	IGSF9B_ENST00000533871.2_Silent_p.F1047F			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1047	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAGCCCCCCGAAGGGGAATT	0.657000													73	45					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152737380	152737380	+	Silent	SNP	G	G	A	rs147647355	by1000genomes	TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr2:152737380G>A	ENST00000360283.6	-	3	479	c.222C>T	c.(220-222)gaC>gaT	p.D74D	CACNB4_ENST00000534999.1_Silent_p.D74D|CACNB4_ENST00000201943.5_Silent_p.D108D|CACNB4_ENST00000539935.1_Silent_p.D108D|CACNB4_ENST00000397327.2_Silent_p.D61D|CACNB4_ENST00000427385.1_Silent_p.D90D			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	108					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GCACATCCTCGTCCAGGGCGC	0.473000													22	48					0	0	1	0	0
NDC1	55706	broad.mit.edu	37	1	54291557	54291557	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:54291557G>A	ENST00000371429.3	-	5	1106	c.508C>T	c.(508-510)Cta>Tta	p.L170L	NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000234725.8_Silent_p.L55L|NDC1_ENST00000540001.1_Silent_p.L170L|NDC1_ENST00000537333.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		CCAGTCAGTAGGAAAAAAAGA	0.368000													50	122					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74019789	74019789	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr4:74019789C>G	ENST00000358602.4	-	6	1158	c.1042G>C	c.(1042-1044)Gat>Cat	p.D348H	ANKRD17_ENST00000330838.6_Missense_Mutation_p.D348H|ANKRD17_ENST00000509867.2_Missense_Mutation_p.D235H	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	348					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTACAACATCTACATAGCCT	0.363000													32	216					0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941487	6941487	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:6941487G>C	ENST00000308027.6	+	3	668	c.360G>C	c.(358-360)ttG>ttC	p.L120F		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	120						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GCTGGGCTTTGACCTTCGCTC	0.587000													13	147					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102645974	102645974	+	Silent	SNP	T	T	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr11:102645974T>C	ENST00000279441.4	-	7	1047	c.1011A>G	c.(1009-1011)tcA>tcG	p.S337S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	337	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CATCCAAATATGATGGAAGAG	0.348000													8	63					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508381	106508381	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr7:106508381G>C	ENST00000359195.3	+	2	685	c.375G>C	c.(373-375)tgG>tgC	p.W125C	PIK3CG_ENST00000440650.2_Missense_Mutation_p.W125C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.W125C	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	125					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						TGCGCTACTGGAAGGCCACGC	0.637000													31	48					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28508617	28508617	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr16:28508617G>A	ENST00000564831.1	+	2	2288	c.2255G>A	c.(2254-2256)cGt>cAt	p.R752H	APOBR_ENST00000431282.1_Missense_Mutation_p.R743H|APOBR_ENST00000328423.5_Missense_Mutation_p.R743H	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	743	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CTCCCGGACCGTGAGGATGCA	0.617000													3	14					0	0	1	0	0
NKPD1	284353	broad.mit.edu	37	19	45655625	45655625	+	Silent	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr19:45655625G>C	ENST00000317951.4	-	4	2069	c.2070C>G	c.(2068-2070)ctC>ctG	p.L690L	NKPD1_ENST00000589776.1_Silent_p.L468L|NKPD1_ENST00000438936.2_Silent_p.L468L|NKPD1_ENST00000429338.1_Silent_p.L468L	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		AAACGTCCCAGAggcgcgcgc	0.711000													18	14					0	0	1	0	0
DHRS4L1	728635	broad.mit.edu	37	14	24517443	24517443	+	RNA	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr14:24517443G>C	ENST00000558293.1	+	0	516					NR_102693.1																						AGGGTACAGAGAGTGAGAGAG	0.537000													4	72					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047275	42047275	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:42047275C>A	ENST00000372584.1	-	3	4208	c.3194G>T	c.(3193-3195)gGa>gTa	p.G1065V	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G1065V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G1065V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G1065V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1065	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCCTGTCTTCCCTTGGGGGC	0.582000													20	95					2.94398e-08	3.11085e-08	1	1	0
DST	667	broad.mit.edu	37	6	56418362	56418362	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:56418362C>G	ENST00000370754.5	-	61	15134	c.15135G>C	c.(15133-15135)aaG>aaC	p.K5045N	DST_ENST00000244364.6_Missense_Mutation_p.K2453N|DST_ENST00000370769.4_Missense_Mutation_p.K4867N|DST_ENST00000421834.2_Missense_Mutation_p.K2779N|DST_ENST00000446842.2_Missense_Mutation_p.K4541N|DST_ENST00000361203.3_Missense_Mutation_p.K4865N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.K2779N			Q03001	DYST_HUMAN	dystonin	4865					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)			GCTCTTCTTTCTTTGTATCCA	0.388000													60	177					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128880800	128880800	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr2:128880800G>T	ENST00000375990.3	+	11	1445	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*	UGGT1_ENST00000259253.6_Nonsense_Mutation_p.E372*			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	372					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTTAGAACCGAAGTGGAAGA	0.323000													16	58					2.35188e-11	2.53653e-11	1	1	0
HAO2	51179	broad.mit.edu	37	1	119927526	119927526	+	Silent	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:119927526G>A	ENST00000361035.4	+	5	733	c.450G>A	c.(448-450)ctG>ctA	p.L150L	HAO2_ENST00000325945.3_Silent_p.L137L			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	137	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ACCTGCAGCTGAACAAACAGT	0.478000													84	120					0	0	1	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783795	149783795	+	Silent	SNP	C	C	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:149783795C>T	ENST00000427880.2	-	1	130	c.84G>A	c.(82-84)aaG>aaA	p.K28K	HIST2H2BF_ENST00000545683.1_Silent_p.K28K|HIST2H2BF_ENST00000369167.1_Silent_p.K28K|HIST2H2BF_ENST00000469483.1_5'UTR			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	28					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GCTTGCGCTTCTTGCCGTCCT	0.562000													144	245					0	0	1	0	0
MARCKS	4082	broad.mit.edu	37	6	114178958	114178958	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:114178958G>C	ENST00000368635.4	+	1	418	c.37G>C	c.(37-39)Gaa>Caa	p.E13Q		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	13					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		AGCGAAGGGAGAAGCCGCCGC	0.562000													8	17					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577077	7577077	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:7577077C>G	ENST00000420246.2	-	8	993	c.861G>C	c.(859-861)gaG>gaC	p.E287D	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E287D|TP53_ENST00000455263.2_Missense_Mutation_p.E287D|TP53_ENST00000359597.4_Missense_Mutation_p.E287D|TP53_ENST00000269305.4_Missense_Mutation_p.E287D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	287	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.N288fs*13(17)|p.0?(8)|p.E287E(5)|p.?(2)|p.E286fs*17(2)|p.E287D(2)|p.R283fs*16(2)|p.N288fs*18(1)|p.L265_K305del41(1)|p.N288fs*15(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCGGAGATTCTCTTCCTCTG	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			49	45					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000269305.4_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTCTTCCTCTGTGCGCCGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			48	39					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56572822	56572822	+	Silent	SNP	C	C	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr19:56572822C>G	ENST00000390649.3	+	15	3531	c.3531C>G	c.(3529-3531)ctC>ctG	p.L1177L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1177						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGCAGCTACTCAAGCCCCGAG	0.512000													52	84					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30486720	30486720	+	Splice_Site	SNP	A	A	G			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr16:30486720A>G	ENST00000356798.6	+	3	438	c.258A>G	c.(256-258)agA>agG	p.R86R	ITGAL_ENST00000454514.2_Splice_Site_p.R86R|ITGAL_ENST00000358164.5_Splice_Site_p.R86R|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	86					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TCACCCTGAGAGGTGAGTAAC	0.617000													19	128					0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23735166	23735166	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:23735166G>A	ENST00000450454.2	-	5	540	c.434C>T	c.(433-435)tCg>tTg	p.S145L	TCEA3_ENST00000461794.1_Missense_Mutation_p.S108L|TCEA3_ENST00000374601.3_Missense_Mutation_p.S145L	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	145	Ser-rich.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		CCTTTCCACCGATGGTCTTTT	0.483000													6	33					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27100816	27100821	+	Splice_Site	DEL	TTAGAA	TTAGAA	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:27100816_27100821delTTAGAA	ENST00000324856.7	+	18	4472_4474	c.4101_4103delTTAGAA	c.(4099-4104)cattag>cag	p.1367_1368H*>Q	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Splice_Site_p.984_985H*>Q|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1367	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGTCTCTGCCTTAGAATTACAAGCGG	0.549			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								19	86	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27101375	27101375	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:27101375delC	ENST00000324856.7	+	18	5028	c.4657delC	c.(4657-4659)cccfs	p.P1554fs	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P1171fs|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1554					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CACACGCCAGCCCCCATATGG	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								59	83	---	---	---	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:155886422_155886423delCT	ENST00000368320.3	-	12	1571_1572	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs			Q7Z7F0	K0907_HUMAN	KIAA0907	516								p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													10	378	---	---	---	---					
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr1:160589601delT	ENST00000302035.6	-	5	1178	c.829delA	c.(829-831)agcfs	p.S277fs	SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	277					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433													10	383	---	---	---	---					
RBM45	129831	broad.mit.edu	37	2	178988920	178988920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr2:178988920delA	ENST00000286070.5	+	8	1227	c.1135delA	c.(1135-1137)aaafs	p.K381fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	383					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	p.A382fs*7(2)|p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCCATCATGCAAAAAAAAAGC	0.353													7	180	---	---	---	---					
FYCO1	79443	broad.mit.edu	37	3	46014656	46014657	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr3:46014656_46014657delAG	ENST00000296137.2	-	6	667_668	c.462_463delCT	c.(460-465)ctctatfs	p.Y155fs	FYCO1_ENST00000535325.1_Frame_Shift_Del_p.Y155fs	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	155	RUN.			Y -> C (in Ref. 2; CAD91151).	transport	integral to membrane	metal ion binding|protein binding	p.L154L(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTCAGCTCATAGAGTTGGCCCA	0.475													62	105	---	---	---	---					
TMEM175	84286	broad.mit.edu	37	4	947122	947133	+	In_Frame_Del	DEL	TCTCTCTTCTTT	TCTCTCTTCTTT	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr4:947122_947133delTCTCTCTTCTTT	ENST00000264771.4	+	8	792_803	c.607_618delTCTCTCTTCTTT	c.(607-618)tctctcttctttdel	p.SLFF203del	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_In_Frame_Del_p.SLFF121del|TMEM175_ENST00000515740.1_In_Frame_Del_p.SLFF87del	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	203						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCCATCTTCTCTCTCTTCTTTGTCCCCTTGG	0.656													8	83	---	---	---	---					
PHOX2B	8929	broad.mit.edu	37	4	41749376	41749376	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr4:41749376delG	ENST00000226382.2	-	2	778	c.419delC	c.(418-420)gcgfs	p.A140fs		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	140					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.A140V(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTGGACTCGCGCCTCTGTGAG	0.642			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				10	127	---	---	---	---					
CDKN2AIPNL	91368	broad.mit.edu	37	5	133747459	133747459	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr5:133747459delG	ENST00000458198.2	-	1	130	c.87delC	c.(85-87)tccfs	p.S29fs	CDKN2AIPNL_ENST00000395009.3_Frame_Shift_Del_p.S29fs	NM_080656.2	NP_542387.1	Q96HQ2	C2AIL_HUMAN	CDKN2A interacting protein N-terminal like	29										central_nervous_system(1)|kidney(2)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTCTGAGTAGGAGCGGAACT	0.701											OREG0016789	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	30	---	---	---	---					
PCDHA12	56137	broad.mit.edu	37	5	140255631	140255631	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr5:140255631delC	ENST00000398631.2	+	1	574	c.574delC	c.(574-576)cctfs	p.P192fs	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.2	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)			AAGTATATTGCCTGAATTAGT	0.363													41	61	---	---	---	---					
PCDH1	5097	broad.mit.edu	37	5	141248302	141248302	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr5:141248302delG	ENST00000287008.3	-	2	882	c.735delC	c.(733-735)tccfs	p.S245fs	PCDH1_ENST00000456271.1_Frame_Shift_Del_p.S233fs|PCDH1_ENST00000503492.1_Frame_Shift_Del_p.S245fs|PCDH1_ENST00000536585.1_Frame_Shift_Del_p.S223fs|PCDH1_ENST00000394536.3_Frame_Shift_Del_p.S245fs	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	245	Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGAGGTCATAGGAGTCCCAGC	0.627													27	69	---	---	---	---					
HDAC2	3066	broad.mit.edu	37	6	114292109	114292110	+	In_Frame_Ins	INS	-	-	CTG			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr6:114292109_114292110insCTG	ENST00000398283.2	-	1	249_250	c.245_246insCAG	c.(244-246)agg>agCAGg	p.81_82insS	RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000519065.1_5'UTR|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN	histone deacetylase 2	0	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GGCTCCTCCTCctgctgctgct	0.688													3	4	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining					7	968	---	---	---	---					
RGS3	5998	broad.mit.edu	37	9	116356323	116356323	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr9:116356323delT	ENST00000462403.1	+	1	558	c.124delT	c.(124-126)tttfs	p.F44fs	RGS3_ENST00000343817.5_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374140.2_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	207					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCAGAAGGAATTTTTTTTTCC	0.622													8	405	---	---	---	---					
CD63	967	broad.mit.edu	37	12	56120682	56120683	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr12:56120682_56120683insAG	ENST00000549117.1	-	4	757_758	c.321_322insCT	c.(319-324)tttagafs	p.R108fs	CD63_ENST00000548898.1_Frame_Shift_Ins_p.R15fs|CD63_ENST00000548160.1_Frame_Shift_Ins_p.R15fs|CD63_ENST00000552692.1_Frame_Shift_Ins_p.R108fs|CD63_ENST00000550776.1_Frame_Shift_Ins_p.R26fs|CD63_ENST00000546939.1_Frame_Shift_Ins_p.R26fs|CD63_ENST00000552067.1_Frame_Shift_Ins_p.R15fs|CD63_ENST00000552754.1_Frame_Shift_Ins_p.R85fs|CD63_ENST00000420846.3_Frame_Shift_Ins_p.R108fs|CD63_ENST00000257857.4_Frame_Shift_Ins_p.R108fs	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	108					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ACCTTATCTCTAAACACATAGC	0.520													38	290	---	---	---	---					
TMEM194A	23306	broad.mit.edu	37	12	57466640	57466649	+	Frame_Shift_Del	DEL	ACGCTTTTCA	ACGCTTTTCA	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr12:57466640_57466649delACGCTTTTCA	ENST00000300128.4	-	2	197_206	c.174_183delTGAAAAGCGT	c.(172-183)tgtgaaaagcgtfs	p.CEKR58fs	TMEM194A_ENST00000553654.1_5'UTR|TMEM194A_ENST00000379391.3_Frame_Shift_Del_p.CEKR58fs	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	58						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTTGGCTGGCACGCTTTTCACAAACTTGGG	0.386													14	136	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312													9	11	---	---	---	---					
FOXA1	3169	broad.mit.edu	37	14	38060573	38060573	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr14:38060573delG	ENST00000250448.2	-	2	1477	c.1416delC	c.(1414-1416)tccfs	p.S472fs	FOXA1_ENST00000540786.1_Frame_Shift_Del_p.S439fs|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	472					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGGGAGCTAGGAAGTGTTTA	0.557													17	93	---	---	---	---					
PDXDC2P	283970	broad.mit.edu	37	16	70072983	70072984	+	RNA	INS	-	-	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr16:70072983_70072984insT	ENST00000531894.1	-	0	333					NR_003610.1																						GTTGCTTCAAGTTTTTTTTTTT	0.376													2	4	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635													8	128	---	---	---	---					
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	RNA	INS	-	-	T	rs144948060		TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347													5	6	---	---	---	---					
IGLV3-12	28802	broad.mit.edu	37	22	23114749	23114749	+	RNA	DEL	T	T	-	rs74864698		TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr22:23114749delT	ENST00000390313.2	+	0	55																											CATCCTCTCCTTTTTTTTTTT	0.498													8	21	---	---	---	---					
TMPRSS6	164656	broad.mit.edu	37	22	37480254	37480254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chr22:37480254delA	ENST00000442782.2	-	10	1420	c.1304delT	c.(1303-1305)ttgfs	p.L435fs	TMPRSS6_ENST00000406856.1_Intron|TMPRSS6_ENST00000346753.3_Intron|TMPRSS6_ENST00000381792.2_Intron|TMPRSS6_ENST00000406725.1_Intron			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	434	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TTGGGCTTCCAATGAGGGGGT	0.612													5	3	---	---	---	---					
RBMX	27316	broad.mit.edu	37	X	135961585	135961586	+	Translation_Start_Site	INS	-	-	T			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chrX:135961585_135961586insT	ENST00000570135.1	-	0	155_156				RBMX_ENST00000431446.3_Start_Codon_Ins|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000562646.1_Start_Codon_Ins|RBMX_ENST00000320676.7_Start_Codon_Ins			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked							catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCAACCATGTTTTTTTTT	0.391													8	107	---	---	---	---					
BRCC3	79184	broad.mit.edu	37	X	154327649	154327650	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FD-A43N-01A-11D-A23U-08	TCGA-FD-A43N-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad967f2-cade-41e1-9aaf-b651ebafb8ef	38660148-12e6-4dae-9041-075ca6892d9b	g.chrX:154327649_154327650delAG	ENST00000369462.1	+	8	633_634	c.608_609delAG	c.(607-609)cagfs	p.Q203fs	BRCC3_ENST00000399042.1_Frame_Shift_Del_p.Q203fs|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Intron|BRCC3_ENST00000369459.2_Intron|BRCC3_ENST00000340647.4_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	203					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q203Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					attgagggccagaaggaagagg	0.505													19	11	---	---	---	---					
