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
ESRRG	2104	broad.mit.edu	37	1	216850784	216850784	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:216850784A>G	ENST00000391890.3	-	4	554	c.37T>C	c.(37-39)Tcg>Ccg	p.S13P	ESRRG_ENST00000360012.3_Missense_Mutation_p.S13P|ESRRG_ENST00000366937.1_Missense_Mutation_p.S41P|ESRRG_ENST00000463665.1_Missense_Mutation_p.S13P|ESRRG_ENST00000359162.2_Missense_Mutation_p.S13P|ESRRG_ENST00000366940.2_Missense_Mutation_p.S13P|ESRRG_ENST00000493603.1_Missense_Mutation_p.S13P|ESRRG_ENST00000487276.1_Missense_Mutation_p.S13P|ESRRG_ENST00000361395.2_Missense_Mutation_p.S13P|ESRRG_ENST00000361525.3_Missense_Mutation_p.S13P|ESRRG_ENST00000493748.1_Missense_Mutation_p.S13P|ESRRG_ENST00000408911.3_Missense_Mutation_p.S36P|ESRRG_ENST00000366938.2_Missense_Mutation_p.S13P	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	36					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.S36P(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATGAAGGACGAACAGCTGGAA	0.527000													29	32					0	0	0.007291	0	0
ADAM28	10863	broad.mit.edu	37	8	24178763	24178763	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:24178763C>T	ENST00000265769.4	+	8	791	c.681C>T	c.(679-681)atC>atT	p.I227I	ADAM28_ENST00000397649.3_Intron|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Silent_p.I227I	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	227	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.I227I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGATGAGATCAGAAAGAGGG	0.318000													14	67					0	0	0.028581	0	0
EFCAB6	64800	broad.mit.edu	37	22	43972201	43972201	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:43972201C>T	ENST00000262726.7	-	26	3649	c.3396G>A	c.(3394-3396)caG>caA	p.Q1132Q	EFCAB6_ENST00000396231.2_Silent_p.Q980Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.Q1132Q(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTAAAGTTCTGGAGAAAAT	0.313000													11	37					0	0	0.016723	0	0
IMPG1	3617	broad.mit.edu	37	6	76720899	76720899	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:76720899G>T	ENST00000369950.3	-	8	1039	c.850C>A	c.(850-852)Cat>Aat	p.H284N	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	284	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.H284N(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTAACACATGGATTTTTTTG	0.313000													11	21					1.58986e-06	1.7012e-06	0.008291	1	0
USP44	84101	broad.mit.edu	37	12	95918479	95918479	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:95918479G>C	ENST00000258499.3	-	4	1998	c.1710C>G	c.(1708-1710)ctC>ctG	p.L570L	USP44_ENST00000393091.2_Silent_p.L570L|USP44_ENST00000537435.2_Silent_p.L570L|USP44_ENST00000552440.1_3'UTR	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	570					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.L570L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GGTGCAGTCTGAGAACCTGAG	0.403000													33	35					0	0	0.013726	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256020	140256020	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:140256020C>T	ENST00000398631.2	+	1	963	c.963C>T	c.(961-963)aaC>aaT	p.N321N	PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1												p.N321N(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)			TTCAGGTTAACGCCATTGATA	0.398000													4	91					0	0	0.009096	0	0
POLR2D	5433	broad.mit.edu	37	2	128605685	128605685	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:128605685T>C	ENST00000272645.4	-	4	481	c.425A>G	c.(424-426)tAt>tGt	p.Y142C	POLR2D_ENST00000487079.1_5'UTR|POLR2D_ENST00000409698.1_Missense_Mutation_p.Y104C|POLR2D_ENST00000409955.1_Missense_Mutation_p.Y110C	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	142					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding	p.Y142C(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		TGGAGATTAATACTGAAAGCT	0.458000													14	31					0	0	0.024245	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008156	41008156	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:41008156C>T	ENST00000352632.3	+	9	1105	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	SPTBN4_ENST00000338932.3_Missense_Mutation_p.S340F|SPTBN4_ENST00000344104.3_Missense_Mutation_p.S340F|SPTBN4_ENST00000598249.1_Missense_Mutation_p.S340F|SPTBN4_ENST00000595535.1_Missense_Mutation_p.S340F			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	340					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.S340F(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTTGCCAACTCCTTAAGTGGG	0.602000													17	59					0	0	0.004990	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15124021	15124021	+	Silent	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:15124021G>T	ENST00000253699.3	-	9	1306	c.693C>A	c.(691-693)atC>atA	p.I231I	ZFYVE20_ENST00000476527.2_Silent_p.I231I|ZFYVE20_ENST00000449964.2_Intron|ZFYVE20_ENST00000435849.3_Intron	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	231	Necessary for the correct targeting to endosomes.|Ser-rich.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	p.I231I(1)		NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TCATGCTGCTGATGCTGCCTC	0.602000													20	20					2.21704e-12	2.44771e-12	0.016522	1	0
GRM6	2916	broad.mit.edu	37	5	178410024	178410024	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:178410024C>T	ENST00000231188.5	-	9	2501	c.2323G>A	c.(2323-2325)Gtg>Atg	p.V775M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.V775M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	775					detection of visible light|visual perception	integral to plasma membrane		p.V775M(2)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTCTCGGGCACGCCACGGGCC	0.597000													17	47					0	0	0.004990	0	0
AP1G1	164	broad.mit.edu	37	16	71805129	71805129	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:71805129G>A	ENST00000299980.4	-	5	936	c.495C>T	c.(493-495)atC>atT	p.I165I	AP1G1_ENST00000423132.2_Silent_p.I165I|AP1G1_ENST00000569748.1_Silent_p.I165I|AP1G1_ENST00000393512.3_Silent_p.I165I|AP1G1_ENST00000433195.2_Silent_p.I188I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	165					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	p.I165I(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GAACTTTCCTGATGACATGAA	0.318000													15	18					0	0	0.004990	0	0
NES	10763	broad.mit.edu	37	1	156641159	156641159	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:156641159C>T	ENST00000368223.3	-	4	2953	c.2821G>A	c.(2821-2823)Gag>Aag	p.E941K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	941	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	p.E941K(1)		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)					TGCGGCAGCTCCTGTCCCTCC	0.547000													105	185					0	0	0.014410	0	0
SH3GL3	6457	broad.mit.edu	37	15	84233946	84233946	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:84233946C>A	ENST00000324537.5	+	6	691	c.199C>A	c.(199-201)Cag>Aag	p.Q67K	SH3GL3_ENST00000434347.1_Missense_Mutation_p.Q67K|SH3GL3_ENST00000427482.2_Missense_Mutation_p.Q59K|SH3GL3_ENST00000535412.1_Missense_Mutation_p.Q59K			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	59	BAR.|Required for dimerization upon membrane association (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.Q67K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGAATATCTTCAGCCAAATCC	0.294000													16	34					1.99824e-07	2.14417e-07	0.004990	1	0
CHMP1B	57132	broad.mit.edu	37	18	11851604	11851604	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:11851604G>A	ENST00000526991.2	+	1	210	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000423027.3_Intron|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000334049.6_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	32					cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding	p.E32K(2)		endometrium(1)|lung(1)|urinary_tract(1)	3						GGAAAAGGCCGAAAAGGCCAA	0.473000													6	9					0	0	0.021553	0	0
CRB1	23418	broad.mit.edu	37	1	197390429	197390429	+	Translation_Start_Site	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:197390429G>A	ENST00000367397.1	+	0	472				CRB1_ENST00000543483.1_Missense_Mutation_p.D190N|CRB1_ENST00000535699.1_Missense_Mutation_p.D422N|CRB1_ENST00000538660.1_Missense_Mutation_p.D491N|CRB1_ENST00000367400.3_Missense_Mutation_p.D491N|CRB1_ENST00000367399.2_Missense_Mutation_p.D379N|CRB1_ENST00000544212.1_De_novo_Start_OutOfFrame|CRB1_ENST00000476483.1_3'UTR			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.D491N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTTGAGGGCGATGGCTTCCT	0.517000													31	47					0	0	0.010818	0	0
THADA	63892	broad.mit.edu	37	2	43458382	43458382	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:43458382G>C	ENST00000405006.4	-	38	5918	c.5567C>G	c.(5566-5568)tCa>tGa	p.S1856*	THADA_ENST00000415080.2_Nonsense_Mutation_p.S1537*|AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Nonsense_Mutation_p.S1856*	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1856							binding	p.S1856*(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCCGGACTTTGAGAGGAGACA	0.512000													11	16					0	0	0.016723	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													6	8					3.59834e-05	3.77628e-05	0.021553	1	0
CCDC147	159686	broad.mit.edu	37	10	106139898	106139898	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:106139898C>A	ENST00000369704.3	+	9	1419	c.1285C>A	c.(1285-1287)Cag>Aag	p.Q429K	CCDC147_ENST00000312902.5_Missense_Mutation_p.Q51K|CCDC147_ENST00000369703.1_Missense_Mutation_p.Q51K	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	429								p.Q429K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGATGAGGCTCAGAAGCAGAG	0.493000													12	59					3.27435e-08	3.52339e-08	0.020292	1	0
NOA1	84273	broad.mit.edu	37	4	57829697	57829697	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:57829697C>G	ENST00000264230.4	-	7	3253	c.2016G>C	c.(2014-2016)aaG>aaC	p.K672N		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	672							GTP binding	p.K672N(1)									CCACACTTTTCTTGATGCGCT	0.458000													68	121					0	0	0.014410	0	0
EIF3E	3646	broad.mit.edu	37	8	109228656	109228656	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:109228656C>T	ENST00000220849.5	-	9	998	c.936G>A	c.(934-936)ctG>ctA	p.L312L	EIF3E_ENST00000519030.1_Silent_p.L219L|EIF3E_ENST00000519517.1_5'UTR	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	312	PCI.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	p.L312L(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CACATTCCCTCAGCTTTTTCT	0.289000													9	47					0	0	0.006214	0	0
SYT10	341359	broad.mit.edu	37	12	33532824	33532824	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:33532824C>G	ENST00000228567.3	-	6	1739	c.1443G>C	c.(1441-1443)tgG>tgC	p.W481C	SYT10_ENST00000535526.1_Missense_Mutation_p.W300C	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	481						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.W481C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCATTTCATTCCAGTGGTCTC	0.463000													42	78					0	0	0.008740	0	0
P4HTM	54681	broad.mit.edu	37	3	49043565	49043565	+	Silent	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:49043565C>G	ENST00000343546.4	+	8	1784	c.1416C>G	c.(1414-1416)gtC>gtG	p.V472V	P4HTM_ENST00000383729.4_Silent_p.V411V	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	411						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.V472V(1)|p.V411V(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	ACCTGCGTGTCAAGCCCCAAC	0.612000													32	36					0	0	0.009535	0	0
FBXO4	26272	broad.mit.edu	37	5	41929935	41929935	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:41929935G>A	ENST00000296812.2	+	3	618	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	FBXO4_ENST00000509134.1_Missense_Mutation_p.E188K|FBXO4_ENST00000281623.3_Missense_Mutation_p.E188K	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	188				E -> Q (in Ref. 1; AAF04468).	positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	p.E188K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AGGTTTGGAAGAATTGAATAC	0.418000													78	110					0	0	0.014410	0	0
EXT1	2131	broad.mit.edu	37	8	118816983	118816983	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:118816983T>A	ENST00000378204.2	-	10	2839	c.2033A>T	c.(2032-2034)tAt>tTt	p.Y678F		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	678					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	p.Y678F(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGTCTCCTTATACTGCTTCTT	0.478000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				31	58					0	0	0.008361	0	0
QTRT1	81890	broad.mit.edu	37	19	10812162	10812162	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:10812162C>T	ENST00000250237.5	+	1	36	c.26C>T	c.(25-27)tCc>tTc	p.S9F	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	9					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	p.S9F(1)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ACCCAGGCTTCCCTGGAGTCG	0.692000													3	14					0	0	0.004672	0	0
MARK1	4139	broad.mit.edu	37	1	220825393	220825393	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:220825393C>T	ENST00000402574.1	+	15	2234	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	MARK1_ENST00000366918.4_Missense_Mutation_p.S524L|MARK1_ENST00000366917.4_Missense_Mutation_p.S546L	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	546					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.S546L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GCTGTCCCCTCAGCACGACCC	0.517000													34	66					0	0	0.017118	0	0
BVES	11149	broad.mit.edu	37	6	105581450	105581450	+	Translation_Start_Site	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:105581450C>A	ENST00000314641.5	-	2	219	c.3G>T	c.(1-3)atG>atT	p.M1I	BVES_ENST00000446408.2_Start_Codon_SNP_p.M1I|BVES_ENST00000336775.5_Start_Codon_SNP_p.M1I	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	1					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	p.M1I(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTGTATAATTCATTTTGAAAA	0.323000													32	55					1.06801e-11	1.17574e-11	0.009535	1	0
ENTPD2	954	broad.mit.edu	37	9	139945381	139945381	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:139945381G>C	ENST00000355097.2	-	5	794	c.747C>G	c.(745-747)ctC>ctG	p.L249L	ENTPD2_ENST00000312665.5_Silent_p.L249L	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	249						integral to membrane	ATP binding	p.L249L(1)		endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGCCTCTGGAGGACCTGGT	0.647000													8	14					0	0	0.003080	0	0
ERBB2	2064	broad.mit.edu	37	17	37872839	37872839	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:37872839C>T	ENST00000406381.2	+	16	2138	c.1628C>T	c.(1627-1629)tCa>tTa	p.S543L	ERBB2_ENST00000540147.1_Missense_Mutation_p.S543L|ERBB2_ENST00000269571.5_Missense_Mutation_p.S573L|ERBB2_ENST00000541774.1_Missense_Mutation_p.S558L|ERBB2_ENST00000540042.1_Missense_Mutation_p.S543L|ERBB2_ENST00000445658.2_Missense_Mutation_p.S297L|ERBB2_ENST00000584601.1_Missense_Mutation_p.S543L|ERBB2_ENST00000584450.1_Missense_Mutation_p.S573L|ERBB2_ENST00000578199.1_Missense_Mutation_p.S543L	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	573					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S573L(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CAGAATGGCTCAGTGACCTGT	0.637000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			10	19					0	0	0.010729	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612209	44612209	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:44612209G>C	ENST00000273320.3	+	6	2036	c.1607G>C	c.(1606-1608)aGa>aCa	p.R536T	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R536T|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7									p.R536T(1)									TGTTCCAATAGAAATCTCATT	0.438000													39	27					0	0	0.025465	0	0
ZBTB49	166793	broad.mit.edu	37	4	4317400	4317400	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:4317400A>T	ENST00000337872.4	+	6	1535	c.1414A>T	c.(1414-1416)Att>Ttt	p.I472F	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I472F(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TCACATTATTATTCACTCAGG	0.393000													21	29					0	0	0.016522	0	0
PARP4	143	broad.mit.edu	37	13	25074482	25074482	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:25074482C>T	ENST00000381989.3	-	4	478	c.373G>A	c.(373-375)Gag>Aag	p.E125K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	125					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	p.E125K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCTTCCTCCTCTGTGGCACTG	0.398000													26	55					0	0	0.007291	0	0
RHBDL1	9028	broad.mit.edu	37	16	726483	726483	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:726483G>A	ENST00000219551.2	+	1	409	c.382G>A	c.(382-384)Gag>Aag	p.E128K	RHBDL1_ENST00000352681.3_Missense_Mutation_p.E63K			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	128					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	p.E128K(1)		endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CTGCTACCAGGAGCTGGTGGA	0.706000													9	9					0	0	0.013537	0	0
THEMIS	387357	broad.mit.edu	37	6	128040891	128040891	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:128040891C>G	ENST00000368250.1	-	6	2097	c.1599G>C	c.(1597-1599)caG>caC	p.Q533H	THEMIS_ENST00000537166.1_Missense_Mutation_p.Q577H|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q651H|THEMIS_ENST00000368248.2_Missense_Mutation_p.Q612H			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	612					negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.Q612H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCAAATCATTCTGACTACCAA	0.443000													42	27					0	0	0.027894	0	0
RYR2	6262	broad.mit.edu	37	1	237875065	237875065	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:237875065G>C	ENST00000366574.2	+	71	10568	c.10251G>C	c.(10249-10251)caG>caC	p.Q3417H	RYR2_ENST00000360064.6_Missense_Mutation_p.Q3415H|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.Q3401H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3417					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.Q3415H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAAGAGCAGAACTTCGTTG	0.328000													3	26					0	0	0.004672	0	0
GDI1	2664	broad.mit.edu	37	X	153665607	153665607	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:153665607G>A	ENST00000447750.2	+	1	342	c.7G>A	c.(7-9)Gag>Aag	p.E3K		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	3					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	p.E3K(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACCATGGACGAGGAATACGA	0.726000													3	1					0	0	0.004672	0	0
RBL2	5934	broad.mit.edu	37	16	53504333	53504333	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:53504333G>C	ENST00000262133.6	+	16	2421	c.2284G>C	c.(2284-2286)Gtc>Ctc	p.V762L	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	762	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.V762L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATTCTTCCCTGTCCAAGTCAA	0.502000													12	36					0	0	0.010729	0	0
RIN2	54453	broad.mit.edu	37	20	19941346	19941346	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:19941346C>G	ENST00000255006.6	+	5	650	c.501C>G	c.(499-501)atC>atG	p.I167M	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.I118M	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	118	SH2.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	p.I118M(1)|p.I167M(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCCACTAGATCTTCCTGGTTC	0.438000													3	7					0	0	0.004672	0	0
LAMB2	3913	broad.mit.edu	37	3	49161498	49161498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:49161498G>A	ENST00000418109.1	-	25	3624	c.3460C>T	c.(3460-3462)Cag>Tag	p.Q1154*	LAMB2_ENST00000305544.4_Nonsense_Mutation_p.Q1154*	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1154	Laminin EGF-like 13.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.Q1154*(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGTGACACTGAGGTGTATCT	0.562000													13	11					0	0	0.016723	0	0
KLC2	64837	broad.mit.edu	37	11	66030506	66030506	+	Splice_Site	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:66030506C>A	ENST00000394065.2	+	3	1352	c.334C>A	c.(334-336)Cgg>Agg	p.R112R	KLC2_ENST00000417856.1_Splice_Site_p.R251R|KLC2_ENST00000421552.1_Splice_Site_p.R174R|KLC2_ENST00000394067.2_Splice_Site_p.R251R|KLC2_ENST00000394066.2_Splice_Site_p.R174R|KLC2_ENST00000394078.1_Splice_Site_p.R251R|KLC2_ENST00000316924.5_Splice_Site_p.R251R			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	251					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.R251R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACTGGTCTATCGGTGAGGACT	0.602000													7	21					2.7689e-08	2.9879e-08	0.001984	1	0
MYH13	8735	broad.mit.edu	37	17	10219314	10219314	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:10219314A>G	ENST00000418404.3	-	27	3930	c.3767T>C	c.(3766-3768)gTa>gCa	p.V1256A	MYH13_ENST00000252172.4_Missense_Mutation_p.V1256A|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1256					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V1256A(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGATCTTCTACCGTCCGGCA	0.428000													17	39					0	0	0.028581	0	0
CAT	847	broad.mit.edu	37	11	34492549	34492549	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:34492549C>G	ENST00000241052.4	+	12	1568	c.1479C>G	c.(1477-1479)atC>atG	p.I493M	CAT_ENST00000534710.1_3'UTR	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	493					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	p.I493M(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GGAGCCACATCCAGGCTCTTC	0.507000													67	57					0	0	0.014410	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62865278	62865278	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:62865278G>C	ENST00000584306.1	-	8	3443	c.2913C>G	c.(2911-2913)ctC>ctG	p.L971L	LRRC37A3_ENST00000319651.5_Silent_p.L971L|LRRC37A3_ENST00000339474.5_Silent_p.L89L|LRRC37A3_ENST00000400877.3_Silent_p.L9L	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	971						integral to membrane		p.L971L(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GATTGTGATTGAGAATTCTGA	0.318000													32	104					0	0	0.025465	0	0
ITIH2	3698	broad.mit.edu	37	10	7785117	7785117	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:7785117G>A	ENST00000358415.4	+	17	2270	c.2104G>A	c.(2104-2106)Gac>Aac	p.D702N	ITIH2_ENST00000379587.4_Missense_Mutation_p.D691N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	702					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.D702N(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGTTGAAAATGACCCACATTT	0.318000													55	120					0	0	0.014410	0	0
TNFRSF13C	115650	broad.mit.edu	37	22	42321519	42321519	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:42321519C>T	ENST00000291232.3	-	3	451	c.407G>A	c.(406-408)gGa>gAa	p.G136E		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	136						integral to membrane	receptor activity	p.G136E(1)		lung(2)|urinary_tract(1)	3						ATCAGAGATTCCCGGAGACAG	0.637000													23	55					0	0	0.021523	0	0
A4GALT	53947	broad.mit.edu	37	22	43089310	43089310	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:43089310G>A	ENST00000401850.1	-	2	1137	c.648C>T	c.(646-648)ctC>ctT	p.L216L	A4GALT_ENST00000381278.3_Silent_p.L216L|A4GALT_ENST00000249005.2_Silent_p.L216L			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	216					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	p.L216L(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						ACGCGCCGTTGAGGACGTAGC	0.617000													11	32					0	0	0.013537	0	0
OR5B2	390190	broad.mit.edu	37	11	58189810	58189810	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:58189810G>A	ENST00000302581.2	-	1	976	c.925C>T	c.(925-927)Cta>Tta	p.L309L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L309L(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAAACTTATAGAAATTTTTGC	0.383000													21	32					0	0	0.010504	0	0
FNDC3A	22862	broad.mit.edu	37	13	49752710	49752710	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:49752710G>A	ENST00000492622.2	+	14	1842	c.1537G>A	c.(1537-1539)Ggt>Agt	p.G513S	FNDC3A_ENST00000398316.3_Missense_Mutation_p.G457S|FNDC3A_ENST00000541916.1_Missense_Mutation_p.G513S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	513	Fibronectin type-III 3.					Golgi membrane|integral to membrane		p.G513S(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCAGGGATATGGTTTTAAGCC	0.338000													9	24					0	0	0.006214	0	0
TJAP1	93643	broad.mit.edu	37	6	43472671	43472671	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:43472671G>A	ENST00000372444.2	+	11	1155	c.722G>A	c.(721-723)aGc>aAc	p.S241N	TJAP1_ENST00000372449.1_Missense_Mutation_p.S251N|TJAP1_ENST00000372452.1_Missense_Mutation_p.S241N|TJAP1_ENST00000372445.5_Missense_Mutation_p.S251N|TJAP1_ENST00000436109.2_Missense_Mutation_p.S241N|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000259751.1_Missense_Mutation_p.S241N|TJAP1_ENST00000438588.2_Missense_Mutation_p.S251N	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	251						Golgi apparatus|tight junction	protein binding	p.S241N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGTCAGGCAGCGCCGGGCGC	0.642000													54	86					0	0	0.014410	0	0
CACNG2	10369	broad.mit.edu	37	22	36960929	36960929	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:36960929C>T	ENST00000300105.6	-	4	1422	c.441G>A	c.(439-441)ctG>ctA	p.L147L		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	147					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.L147L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGATGTTACTCAGACCTGCGG	0.557000													71	99					0	0	0.014410	0	0
SLC39A8	64116	broad.mit.edu	37	4	103228665	103228665	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:103228665C>A	ENST00000424970.2	-	4	795	c.480G>T	c.(478-480)aaG>aaT	p.K160N	SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000356736.4_Missense_Mutation_p.K160N|SLC39A8_ENST00000394833.2_Missense_Mutation_p.K160N	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	160						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	p.K160N(1)		large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AGGTCAAAATCTTTGGGAAAT	0.388000													72	125					2.05175e-36	2.31201e-36	0.014410	1	0
ASH1L	55870	broad.mit.edu	37	1	155491121	155491121	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:155491121C>T	ENST00000368346.3	-	2	829	c.190G>A	c.(190-192)Gat>Aat	p.D64N	ASH1L_ENST00000392403.3_Missense_Mutation_p.D64N|ASH1L_ENST00000548830.1_Missense_Mutation_p.D64N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	64					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.D64N(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTCAAACCATCATCTTTCCCA	0.393000													188	399					0	0	0.014410	0	0
COL18A1	80781	broad.mit.edu	37	21	46925183	46925183	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr21:46925183C>T	ENST00000359759.4	+	34	4270	c.4249C>T	c.(4249-4251)Cac>Tac	p.H1417Y	COL18A1_ENST00000355480.5_Missense_Mutation_p.H1182Y|COL18A1_ENST00000400337.2_Missense_Mutation_p.H1002Y|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1417	Nonhelical region 10 (NC10).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	p.H1182Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCTGGCCCTCACAGGCAGAG	0.697000													5	12					0	0	0.014758	0	0
TGM5	9333	broad.mit.edu	37	15	43552715	43552715	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:43552715C>T	ENST00000220420.5	-	2	80	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TGM5_ENST00000349114.4_Missense_Mutation_p.E25K	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	25					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.E25K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACAGTGATCTCCTCCGTGTGG	0.582000													41	77					0	0	0.009718	0	0
FTO	79068	broad.mit.edu	37	16	53878094	53878094	+	Missense_Mutation	SNP	C	C	T	rs76762929	by1000genomes	TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:53878094C>T	ENST00000471389.1	+	4	1001	c.779C>T	c.(778-780)tCt>tTt	p.S260F	FTO_ENST00000394647.3_5'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	260	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S260F(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GAGGATGACTCTCATCTCGAA	0.408000													21	34					0	0	0.012319	0	0
PASK	23178	broad.mit.edu	37	2	242066101	242066101	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:242066101G>C	ENST00000403638.3	-	10	2320	c.2229C>G	c.(2227-2229)ctC>ctG	p.L743L	PASK_ENST00000358649.4_Silent_p.L743L|PASK_ENST00000544142.1_Silent_p.L557L|PASK_ENST00000234040.4_Silent_p.L743L|PASK_ENST00000405260.1_Silent_p.L743L|PASK_ENST00000539818.1_Silent_p.L527L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	743					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.L743L(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGAGTTCCTTGAGGTTCCAGG	0.547000													27	41					0	0	0.027356	0	0
ABCC4	10257	broad.mit.edu	37	13	95726579	95726579	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:95726579C>T	ENST00000376887.4	-	23	2921		c.e23-1		ABCC4_ENST00000412704.1_Splice_Site	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4						platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.?(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AACCAAGCCTCTGAATTTGAG	0.458000													7	15					0	0	0.001984	0	0
TTF2	8458	broad.mit.edu	37	1	117633211	117633211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:117633211G>T	ENST00000369466.4	+	15	2598	c.2554G>T	c.(2554-2556)Gag>Tag	p.E852*		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	p.E852*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGAAGATGAAGAGACTGTTTA	0.368000													17	51					4.35082e-09	4.72162e-09	0.010504	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													3	41					0	0	0.004672	0	0
NCOA3	8202	broad.mit.edu	37	20	46265061	46265061	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:46265061C>G	ENST00000372004.3	+	12	2147	c.1931C>G	c.(1930-1932)tCa>tGa	p.S644*	NCOA3_ENST00000341724.6_Nonsense_Mutation_p.S654*|NCOA3_ENST00000371997.3_Nonsense_Mutation_p.S654*|NCOA3_ENST00000371998.3_Nonsense_Mutation_p.S644*	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	644	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.S644*(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCCCTAGATTCAAGTTGTAAA	0.463000													39	63					0	0	0.023175	0	0
FAM175B	23172	broad.mit.edu	37	10	126505169	126505169	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:126505169C>G	ENST00000298492.5	+	3	233	c.188C>G	c.(187-189)tCa>tGa	p.S63*		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	63	MPN-like.					BRISC complex	polyubiquitin binding	p.S63*(1)		NS(1)	1						CAGCCTTGTTCAAAACTTTTT	0.323000													31	49					0	0	0.013726	0	0
IFIT3	3437	broad.mit.edu	37	10	91099496	91099496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:91099496C>T	ENST00000371818.4	+	2	1264	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Nonsense_Mutation_p.Q362*	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	362					type I interferon-mediated signaling pathway		protein binding	p.Q362*(1)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						ACAATCCCATCAGCGCTACTG	0.433000													39	51					0	0	0.027894	0	0
PLD5	200150	broad.mit.edu	37	1	242428713	242428713	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:242428713G>A	ENST00000536534.2	-	4	774	c.533C>T	c.(532-534)tCg>tTg	p.S178L	PLD5_ENST00000427495.1_Missense_Mutation_p.S116L|PLD5_ENST00000442594.2_Missense_Mutation_p.S86L|PLD5_ENST00000474177.1_5'UTR			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5							integral to membrane	catalytic activity	p.S178L(1)|p.S86L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AATATTTTGCGAAGTCAGCTG	0.358000													19	43					0	0	0.010504	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113673211	113673211	+	Silent	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:113673211C>A	ENST00000330212.3	+	3	1125	c.826C>A	c.(826-828)Cgg>Agg	p.R276R	ZDHHC23_ENST00000498275.1_Silent_p.R270R	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	276						integral to membrane	acyltransferase activity|zinc ion binding	p.R276R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ATGGCACTGCCGGATATGTGG	0.517000													9	22					1.12685e-05	1.1924e-05	0.004482	1	0
HMGCS1	3157	broad.mit.edu	37	5	43295898	43295898	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:43295898C>T	ENST00000325110.6	-	6	1067	c.861G>A	c.(859-861)caG>caA	p.Q287Q	HMGCS1_ENST00000433297.2_Silent_p.Q287Q	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	287					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	p.Q287Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TATCTCTATTCTGGTCATTAA	0.358000													59	72					0	0	0.014410	0	0
ACTN4	81	broad.mit.edu	37	19	39214966	39214966	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:39214966C>A	ENST00000252699.2	+	15	1938	c.1862C>A	c.(1861-1863)tCc>tAc	p.S621Y	ACTN4_ENST00000424234.2_Missense_Mutation_p.S231Y|ACTN4_ENST00000390009.3_Missense_Mutation_p.S402Y	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	621					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	p.S621Y(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCATCAACTCCAAGTGGGAG	0.667000													12	16					3.07112e-06	3.26787e-06	0.010729	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51914402	51914402	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:51914402C>T	ENST00000353836.5	-	10	1981	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q	SIGLEC10_ENST00000356298.5_Missense_Mutation_p.R682Q|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.R529Q|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.R439Q|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.R539Q|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.R682Q|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.R504Q|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.R624Q|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.R497Q	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	682				R -> K (in Ref. 3; AAK92542).	cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.R682Q(1)|p.R624Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CTTGGGCATCCGGGCCTCAGG	0.572000													25	77					0	0	0.016522	0	0
FAM107B	83641	broad.mit.edu	37	10	14572359	14572359	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:14572359G>C	ENST00000181796.2	-	3	858	c.625C>G	c.(625-627)Cac>Gac	p.H209D	FAM107B_ENST00000378462.1_Missense_Mutation_p.H34D|FAM107B_ENST00000378470.1_Missense_Mutation_p.H34D|FAM107B_ENST00000378467.4_Missense_Mutation_p.H34D|FAM107B_ENST00000468747.1_Missense_Mutation_p.H34D|FAM107B_ENST00000496330.1_Missense_Mutation_p.H34D|FAM107B_ENST00000378465.3_Missense_Mutation_p.H34D|FAM107B_ENST00000471815.1_5'UTR|FAM107B_ENST00000478076.1_Missense_Mutation_p.H34D|FAM107B_ENST00000479731.1_Missense_Mutation_p.H34D|FAM107B_ENST00000378458.2_Missense_Mutation_p.H34D	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	34								p.H209D(1)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTCTCTGTGAAGATCTTGA	0.348000													34	57					0	0	0.012213	0	0
NLRP4	147945	broad.mit.edu	37	19	56369819	56369819	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:56369819G>A	ENST00000301295.6	+	3	1482	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	NLRP4_ENST00000587891.1_Missense_Mutation_p.E279K|NLRP4_ENST00000346986.5_Missense_Mutation_p.E354K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	354	NACHT.						ATP binding	p.E354K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCTGAAGCAAGAGATGCAGAA	0.507000													25	43					0	0	0.018920	0	0
MDM2	4193	broad.mit.edu	37	12	69207366	69207366	+	Silent	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:69207366A>G	ENST00000462284.1	+	3	434	c.132A>G	c.(130-132)ttA>ttG	p.L44L	MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Silent_p.L38L|MDM2_ENST00000356290.4_Silent_p.L38L|MDM2_ENST00000393410.1_Silent_p.L38L|MDM2_ENST00000258149.5_Silent_p.L38L|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Silent_p.L44L|MDM2_ENST00000350057.5_Intron|MDM2_ENST00000544561.1_Silent_p.L38L|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Silent_p.L38L	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	38	Necessary for interaction with USP2.|SWIB.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	p.L44L(1)|p.L38L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGAAGTTATTAAAGTCTGTTG	0.353000			A		"""sarcoma, glioma, colorectal, other"""								45	80					0	0	0.014410	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736303	140736303	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:140736303G>A	ENST00000571252.1	+	1	1536	c.1536G>A	c.(1534-1536)ggG>ggA	p.G512G	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAATACAGGGATCCTATATG	0.527000													33	117					0	0	0.013726	0	0
CACHD1	57685	broad.mit.edu	37	1	65145288	65145288	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:65145288G>A	ENST00000371073.2	+	24	3255	c.3255G>A	c.(3253-3255)gtG>gtA	p.V1085V	CACHD1_ENST00000290039.5_Silent_p.V1034V|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1085					calcium ion transport	integral to membrane		p.V1034V(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTGATGAGGTGATCACATTAA	0.493000													31	64					0	0	0.009535	0	0
EPHA5	2044	broad.mit.edu	37	4	66230766	66230766	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:66230766G>A	ENST00000273854.3	-	12	2805	c.2205C>T	c.(2203-2205)aaC>aaT	p.N735N	EPHA5_ENST00000432638.2_Silent_p.N572N|EPHA5_ENST00000354839.4_Silent_p.N713N|EPHA5_ENST00000511294.1_Silent_p.N736N	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	735	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.N735N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AATGGATGATGTTAGGATGAT	0.363000										TSP Lung(17;0.13)			49	69					0	0	0.014410	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529770	80529770	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:80529770G>A	ENST00000295057.3	-	2	1831	c.1175C>T	c.(1174-1176)aCc>aTc	p.T392I	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.T392I|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	392						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.T392I(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGCGAGCGTGGTGGCCGAGCT	0.721000										HNSCC(69;0.2)			8	31					0	0	0.004482	0	0
PRF1	5551	broad.mit.edu	37	10	72360409	72360409	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:72360409T>G	ENST00000441259.1	-	2	410	c.250A>C	c.(250-252)Acc>Ccc	p.T84P	PRF1_ENST00000373209.2_Missense_Mutation_p.T84P	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	84	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	p.T84P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CGCTGGAGGGTGCCCTCCTGT	0.662000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				7	23					0	0	0.006214	0	0
UEVLD	55293	broad.mit.edu	37	11	18586472	18586472	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:18586472G>A	ENST00000396197.3	-	6	607	c.579C>T	c.(577-579)ctC>ctT	p.L193L	UEVLD_ENST00000541984.1_Silent_p.L93L|UEVLD_ENST00000300038.7_Silent_p.L193L|UEVLD_ENST00000379387.4_Silent_p.L171L|UEVLD_ENST00000320750.6_Silent_p.L171L|UEVLD_ENST00000535484.1_Silent_p.L155L|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000543987.1_Silent_p.L193L	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	193					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	p.L193L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGGCAATACCGAGTTCTCCAC	0.373000													17	11					0	0	0.004990	0	0
NPAS2	4862	broad.mit.edu	37	2	101580599	101580599	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:101580599C>T	ENST00000335681.5	+	8	963	c.678C>T	c.(676-678)ttC>ttT	p.F226F	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Silent_p.F291F	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	226					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.F226L(1)|p.F226F(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGTTTGCTTCATTGCCACCG	0.493000													33	49					0	0	0.015359	0	0
STIM2	57620	broad.mit.edu	37	4	26959236	26959236	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:26959236C>T	ENST00000382009.3	+	3	813	c.546C>T	c.(544-546)ttC>ttT	p.F182F	STIM2_ENST00000412829.2_Silent_p.F182F|STIM2_ENST00000465503.1_Silent_p.F95F|STIM2_ENST00000467087.1_Silent_p.F95F|STIM2_ENST00000467011.1_Silent_p.F95F|STIM2_ENST00000237364.5_Silent_p.F182F	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	95	SAM.				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	p.F182F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TTCTATAGTTCATCAGAGAAG	0.308000													18	70					0	0	0.004990	0	0
DNAAF1	123872	broad.mit.edu	37	16	84182710	84182710	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:84182710G>A	ENST00000378553.5	+	2	347	c.223G>A	c.(223-225)Gca>Aca	p.A75T	DNAAF1_ENST00000334315.5_Missense_Mutation_p.A75T	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	75			Missing (in CILD13).		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	p.A75T(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TGGTCACTTCGCACACCCAAG	0.478000													33	48					0	0	0.010818	0	0
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373000													3	96					0	0	0.009096	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881535	228881535	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:228881535C>G	ENST00000392056.3	-	7	4081	c.4035G>C	c.(4033-4035)gaG>gaC	p.E1345D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1345D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1345						cytoplasm	protein binding	p.E1345D(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGCACACTTCTCTGCTTGCG	0.512000													20	50					0	0	0.007413	0	0
RBMX2	51634	broad.mit.edu	37	X	129537824	129537824	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:129537824C>T	ENST00000305536.6	+	3	234	c.170C>T	c.(169-171)tCa>tTa	p.S57L	RBMX2_ENST00000469953.1_3'UTR|RBMX2_ENST00000370947.1_Missense_Mutation_p.S57L	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	57	RRM.						nucleotide binding|RNA binding	p.S57L(1)		breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						TGTGTGTTCTCACAGTAAGTG	0.403000													88	120					0	0	0.014410	0	0
WDR70	55100	broad.mit.edu	37	5	37605251	37605251	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:37605251C>T	ENST00000265107.4	+	10	1159	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S	WDR70_ENST00000504564.1_Missense_Mutation_p.P335S|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	335								p.P335S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAGTCATTCCCACTACGTG	0.423000													8	77					0	0	0.003080	0	0
NBR1	4077	broad.mit.edu	37	17	41355760	41355760	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:41355760C>T	ENST00000422280.1	+	20	3143	c.2684C>T	c.(2683-2685)tCt>tTt	p.S895F	NBR1_ENST00000341165.6_Missense_Mutation_p.S895F|NBR1_ENST00000542611.1_Intron|NBR1_ENST00000389312.4_Missense_Mutation_p.S895F|NBR1_ENST00000590996.1_Missense_Mutation_p.S895F|NBR1_ENST00000589872.1_Missense_Mutation_p.S895F	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	895					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	p.S895F(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GTTGCTGCCTCTGCATACAAG	0.502000													7	10					0	0	0.001984	0	0
FGFR3	2261	broad.mit.edu	37	4	1806119	1806119	+	Missense_Mutation	SNP	G	G	A	rs28931614		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:1806119G>A	ENST00000340107.4	+	9	1400	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.G380R|FGFR3_ENST00000481110.2_Missense_Mutation_p.G380R|FGFR3_ENST00000440486.2_Missense_Mutation_p.G380R	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	380					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.G380R(13)|p.G382R(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTCAGCTACGGGGTGGGCTT	0.672000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				156	222					0	0	0.014410	0	0
DFFB	1677	broad.mit.edu	37	1	3800260	3800260	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:3800260C>T	ENST00000378209.3	+	7	1295	c.972C>T	c.(970-972)ccC>ccT	p.P324P		NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	324					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding	p.P324P(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TCTACAAACCCCAGACAAGGT	0.498000													28	65					0	0	0.027356	0	0
PMFBP1	83449	broad.mit.edu	37	16	72159145	72159145	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:72159145C>T	ENST00000537465.1	-	16	2586	c.2428G>A	c.(2428-2430)Gag>Aag	p.E810K	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E660K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E805K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	810								p.E805K(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ACCTCCAGCTCACTCTCCTGG	0.498000											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	106					0	0	0.025465	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													3	50					0	0	0.009096	0	0
GPS2	2874	broad.mit.edu	37	17	7217458	7217458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:7217458G>T	ENST00000380728.2	-	5	638	c.338C>A	c.(337-339)tCa>tAa	p.S113*	GPS2_ENST00000389167.5_Nonsense_Mutation_p.S113*|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Nonsense_Mutation_p.S113*			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	113					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	p.S113*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTATGCAGCTGATGTTAGGGT	0.488000													54	36					1.93748e-29	2.17043e-29	0.014410	1	0
ARVCF	421	broad.mit.edu	37	22	19959927	19959927	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:19959927C>G	ENST00000263207.3	-	17	2940	c.2649G>C	c.(2647-2649)gaG>gaC	p.E883D	ARVCF_ENST00000406259.1_Missense_Mutation_p.E877D|ARVCF_ENST00000406522.1_Missense_Mutation_p.E814D|ARVCF_ENST00000344269.3_Missense_Mutation_p.E820D|ARVCF_ENST00000401994.1_Missense_Mutation_p.E820D	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	883					cell adhesion|multicellular organismal development		protein binding	p.E883D(1)		NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TGCCAGTTTTCTCGCCCTCTG	0.647000													8	31					0	0	0.004482	0	0
FSCN2	25794	broad.mit.edu	37	17	79496104	79496104	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:79496104C>G	ENST00000417245.2	+	1	683	c.547C>G	c.(547-549)Cgg>Ggg	p.R183G	FSCN2_ENST00000334850.7_Missense_Mutation_p.R183G	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	183					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	p.R183G(2)		endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCGGAGCCGACGGTACTGCCT	0.682000													4	7					0	0	0.009096	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664543	5664543	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:5664543G>C	ENST00000354852.5	+	14	2306	c.2133G>C	c.(2131-2133)aaG>aaC	p.K711N	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.K357N|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.K357N|TRIM34_ENST00000514226.1_Missense_Mutation_p.K357N|TRIM34_ENST00000495668.1_3'UTR	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		711						intracellular	zinc ion binding	p.K357N(1)|p.K711N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		ACGTGTCCAAGAAAACTGCCT	0.408000													22	12					0	0	0.016522	0	0
HJURP	55355	broad.mit.edu	37	2	234749700	234749700	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:234749700G>A	ENST00000411486.2	-	8	1791	c.1726C>T	c.(1726-1728)Cgt>Tgt	p.R576C	HJURP_ENST00000432087.1_Missense_Mutation_p.R522C|HJURP_ENST00000441687.1_Missense_Mutation_p.R491C	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	576					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.R576C(1)|p.R576S(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCATCGTAACGATTCCTTCCG	0.413000													32	59					0	0	0.010818	0	0
INTS10	55174	broad.mit.edu	37	8	19690831	19690831	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:19690831G>C	ENST00000397977.3	+	12	1927	c.1529G>C	c.(1528-1530)aGa>aCa	p.R510T		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	510					snRNA processing	integrator complex	protein binding	p.R510T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GGGGAGTACAGAGTGAGTACT	0.577000													7	21					0	0	0.001984	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	53					0	0	0.004672	0	0
ABCA13	154664	broad.mit.edu	37	7	48314904	48314904	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:48314904G>C	ENST00000435803.1	+	17	5665	c.5641G>C	c.(5641-5643)Gaa>Caa	p.E1881Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1881					transport	integral to membrane	ATP binding|ATPase activity	p.E1826Q(1)|p.E1881Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTCCCGAATGGAAATAACTAG	0.403000													38	58					0	0	0.017118	0	0
CCDC86	79080	broad.mit.edu	37	11	60609623	60609623	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:60609623G>A	ENST00000227520.5	+	1	80	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	9					interspecies interaction between organisms	nucleus		p.R9Q(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						AGGCGCAGCCGACGGCTGGGA	0.637000													3	19					0	0	0.009096	0	0
SPDYE3	441272	broad.mit.edu	37	7	99909483	99909483	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:99909483G>C	ENST00000332397.6	+	4	839	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	219								p.E219Q(2)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CCCTGAGCCTGAGGAGACCTG	0.592000													25	51					0	0	0.006320	0	0
DLG2	1740	broad.mit.edu	37	11	83770465	83770465	+	Missense_Mutation	SNP	G	G	T	rs146925269		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:83770465G>T	ENST00000398309.2	-	6	967	c.497C>A	c.(496-498)gCg>gAg	p.A166E	DLG2_ENST00000543673.1_Missense_Mutation_p.A271E|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.A105E|DLG2_ENST00000532653.1_Missense_Mutation_p.A166E|DLG2_ENST00000418306.2_Missense_Mutation_p.A115E|DLG2_ENST00000531015.1_Missense_Mutation_p.A133E|DLG2_ENST00000280241.8_Missense_Mutation_p.A205E|DLG2_ENST00000376104.2_Missense_Mutation_p.A271E|DLG2_ENST00000524982.1_Missense_Mutation_p.A166E|DLG2_ENST00000398301.2_Missense_Mutation_p.A205E|DLG2_ENST00000537455.1_5'UTR	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	166	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.A205E(1)|p.A115E(1)|p.A271E(1)|p.A166E(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGCTTCCACCGCTTTACTGTG	0.478000													5	43					0.000602214	0.000625125	0.014758	1	0
EPHX2	2053	broad.mit.edu	37	8	27398124	27398124	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:27398124G>A	ENST00000521400.1	+	15	1760	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	EPHX2_ENST00000517536.1_Missense_Mutation_p.E261K|EPHX2_ENST00000518379.1_Missense_Mutation_p.E412K|EPHX2_ENST00000380476.3_Missense_Mutation_p.E391K|EPHX2_ENST00000521780.1_Missense_Mutation_p.E378K	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	444	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	p.E444K(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GATGGTCACTGAGGAGGAAAT	0.502000													24	34					0	0	0.018920	0	0
POU2F1	5451	broad.mit.edu	37	1	167381395	167381395	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:167381395G>A	ENST00000367862.5	+	14	1957	c.1722G>A	c.(1720-1722)gtG>gtA	p.V574V	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Silent_p.V562V|POU2F1_ENST00000429375.2_Silent_p.V522V|POU2F1_ENST00000420254.3_Silent_p.V562V|POU2F1_ENST00000367866.2_Silent_p.V585V	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	562					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V585V(1)|p.V562V(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CCAGCCAGGTGATGGTGACAG	0.592000													11	32					0	0	0.013537	0	0
RFTN2	130132	broad.mit.edu	37	2	198498722	198498722	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:198498722C>G	ENST00000295049.4	-	4	975		c.e4-1			NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane		p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CGACATTAATCTGATATTTAA	0.318000													16	39					0	0	0.024245	0	0
GPR55	9290	broad.mit.edu	37	2	231775157	231775157	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:231775157T>A	ENST00000392040.1	-	2	713	c.521A>T	c.(520-522)gAt>gTt	p.D174V	GPR55_ENST00000392039.2_Missense_Mutation_p.D174V	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	174					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	p.D174V(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CCAGGTATCATCAGACATGTT	0.532000													49	58					0	0	0.014410	0	0
OTOF	9381	broad.mit.edu	37	2	26684967	26684967	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:26684967C>T	ENST00000272371.2	-	42	5401	c.5275G>A	c.(5275-5277)Gac>Aac	p.D1759N	OTOF_ENST00000403946.3_Missense_Mutation_p.D1759N|OTOF_ENST00000338581.6_Missense_Mutation_p.D992N|OTOF_ENST00000402415.3_Missense_Mutation_p.D1069N|OTOF_ENST00000339598.3_Missense_Mutation_p.D992N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1759					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.D1069N(1)|p.D1759Y(1)|p.D992N(1)|p.D1759N(1)|p.D1069Y(1)|p.D992Y(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGAAGATGTCACTGGACTTC	0.617000													74	100					0	0	0.014410	0	0
OTUD7A	161725	broad.mit.edu	37	15	31862286	31862286	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:31862286C>T	ENST00000382902.1	-	2	358	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	OTUD7A_ENST00000307050.4_Missense_Mutation_p.R89Q			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	89						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.R89Q(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CTGTGGCTCTCGCTCTGGCTG	0.642000													3	44					0	0	0.004672	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175392	207175392	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:207175392G>A	ENST00000374423.3	+	5	6526	c.6140G>A	c.(6139-6141)cGg>cAg	p.R2047Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2047							nucleic acid binding|zinc ion binding	p.R2047Q(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAATATAAACGGAATATCTTT	0.358000													9	19					0	0	0.004482	0	0
POT1	25913	broad.mit.edu	37	7	124475365	124475365	+	Silent	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:124475365T>A	ENST00000357628.3	-	15	2071	c.1473A>T	c.(1471-1473)ccA>ccT	p.P491P	POT1_ENST00000393329.1_Silent_p.P360P	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	491					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.P491P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTATAAGAAATGGTGCTGAAA	0.358000													47	87					0	0	0.013114	0	0
AGRN	375790	broad.mit.edu	37	1	957838	957838	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:957838G>A	ENST00000379370.2	+	2	509	c.459G>A	c.(457-459)gtG>gtA	p.V153V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	153	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.V153V(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGTTCTGTGTGGAAGGTGCGT	0.657000													23	30					0	0	0.014323	0	0
NBR1	4077	broad.mit.edu	37	17	41355748	41355748	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:41355748C>T	ENST00000422280.1	+	20	3131	c.2672C>T	c.(2671-2673)tCt>tTt	p.S891F	NBR1_ENST00000341165.6_Missense_Mutation_p.S891F|NBR1_ENST00000542611.1_Intron|NBR1_ENST00000389312.4_Missense_Mutation_p.S891F|NBR1_ENST00000590996.1_Missense_Mutation_p.S891F|NBR1_ENST00000589872.1_Missense_Mutation_p.S891F	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	891					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	p.S891F(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GGGGCTTTGTCTGTTGCTGCC	0.493000													7	11					0	0	0.004482	0	0
GLYR1	84656	broad.mit.edu	37	16	4862198	4862198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:4862198G>A	ENST00000321919.9	-	13	1247	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	GLYR1_ENST00000436648.5_Nonsense_Mutation_p.Q310*|GLYR1_ENST00000591451.1_Nonsense_Mutation_p.Q385*|GLYR1_ENST00000381983.3_Nonsense_Mutation_p.Q374*	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	391					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.Q391*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GACAGCTGCTGATTCCCTGAG	0.587000													4	24					0	0	0.009096	0	0
NR3C2	4306	broad.mit.edu	37	4	149357276	149357276	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:149357276G>C	ENST00000355292.3	-	2	1099	c.737C>G	c.(736-738)tCc>tGc	p.S246C	NR3C2_ENST00000344721.4_Missense_Mutation_p.S246C|NR3C2_ENST00000358102.3_Missense_Mutation_p.S246C|NR3C2_ENST00000512865.1_Missense_Mutation_p.S246C|NR3C2_ENST00000511528.1_Missense_Mutation_p.S246C			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	246	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.S246C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GTGCGACCTGGAGCCTCGATT	0.537000													24	45					0	0	0.021523	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880972	142880972	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:142880972T>C	ENST00000446620.1	+	1	461	c.461T>C	c.(460-462)aTt>aCt	p.I154T		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	154					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.I154T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AGGTGGAGAATTACTGGATTG	0.433000													34	60					0	0	0.019004	0	0
HLF	3131	broad.mit.edu	37	17	53345431	53345431	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:53345431G>C	ENST00000226067.5	+	2	908	c.435G>C	c.(433-435)caG>caC	p.Q145H	HLF_ENST00000575345.1_Missense_Mutation_p.Q60H|HLF_ENST00000573945.1_Missense_Mutation_p.Q60H|HLF_ENST00000430986.2_Missense_Mutation_p.Q60H	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	145					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q145H(1)		large_intestine(1)|ovary(2)	3						ACTGTATGCAGAGCCCCATCA	0.582000			T	TCF3	ALL								34	61					0	0	0.013726	0	0
HELT	391723	broad.mit.edu	37	4	185941474	185941474	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:185941474G>C	ENST00000338875.4	+	4	532	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	HELT_ENST00000515777.1_Missense_Mutation_p.E93Q|HELT_ENST00000505610.1_Missense_Mutation_p.E92Q	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	178	Orange.						DNA binding	p.E178Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGGCTACCACGAGTGCATGAA	0.577000													26	69					0	0	0.027356	0	0
COL6A3	1293	broad.mit.edu	37	2	238277457	238277457	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:238277457C>T	ENST00000295550.4	-	10	5101	c.4649G>A	c.(4648-4650)gGa>gAa	p.G1550E	COL6A3_ENST00000347401.3_Missense_Mutation_p.G1349E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1350E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1344E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1344E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G943E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1550	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.G1550E(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGGATTTTCCACCCAGGAC	0.562000													30	86					0	0	0.007291	0	0
ARSF	416	broad.mit.edu	37	X	3002367	3002367	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:3002367G>A	ENST00000381127.1	+	6	711	c.490G>A	c.(490-492)Ggc>Agc	p.G164S	ARSF_ENST00000359361.2_Missense_Mutation_p.G164S|ARSF_ENST00000537104.1_Missense_Mutation_p.G164S	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	164						extracellular region	arylsulfatase activity|metal ion binding	p.G164S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTACTACTATGGCATGCCGTT	0.512000													37	8					0	0	0.017118	0	0
DPP6	1804	broad.mit.edu	37	7	154561137	154561137	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:154561137G>A	ENST00000404039.1	+	9	1289	c.702G>A	c.(700-702)ttG>ttA	p.L234L	DPP6_ENST00000377770.3_Silent_p.L298L|DPP6_ENST00000332007.3_Silent_p.L236L|DPP6_ENST00000427557.1_Silent_p.L191L	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	298					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.L298L(1)|p.L234L(1)|p.L236L(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGAGATTTTGAAGACACACA	0.507000													25	45					0	0	0.021523	0	0
TYMS	7298	broad.mit.edu	37	18	670747	670747	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:670747G>A	ENST00000323274.10	+	5	751	c.612G>A	c.(610-612)gtG>gtA	p.V204V	TYMS_ENST00000323224.7_Silent_p.V170V|TYMS_ENST00000323250.5_Silent_p.V121V|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	204					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	p.V204V(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	TCTATGTGGTGAACAGTGAGC	0.552000													32	45					0	0	0.013726	0	0
PACS2	23241	broad.mit.edu	37	14	105859633	105859633	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:105859633C>G	ENST00000447393.1	+	23	2699	c.2524C>G	c.(2524-2526)Ctc>Gtc	p.L842V	PACS2_ENST00000325438.8_Missense_Mutation_p.L838V|PACS2_ENST00000458164.2_Missense_Mutation_p.L853V|PACS2_ENST00000547217.1_Missense_Mutation_p.L808V|PACS2_ENST00000430725.2_Missense_Mutation_p.L763V|PACS2_ENST00000551743.1_Missense_Mutation_p.L352V|PACS2_ENST00000551801.1_Missense_Mutation_p.L39V	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	838					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		p.L838V(1)		endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CATCAGCCGGCTCATCTGCAC	0.602000													16	23					0	0	0.004990	0	0
RPRD1A	55197	broad.mit.edu	37	18	33607165	33607165	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:33607165G>A	ENST00000399022.4	-	5	766	c.595C>T	c.(595-597)Cta>Tta	p.L199L	RPRD1A_ENST00000590898.1_Silent_p.L163L|RPRD1A_ENST00000357384.4_Silent_p.L199L|RPRD1A_ENST00000588737.1_Silent_p.L163L|RPRD1A_ENST00000319040.6_Silent_p.L199L|RPRD1A_ENST00000337059.5_Silent_p.L163L	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	199								p.L199L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TTATCTAATAGAGATACTTCT	0.368000													26	60					0	0	0.027356	0	0
NAIP	4671	broad.mit.edu	37	5	70308614	70308614	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:70308614C>T	ENST00000517649.1	-	4	419	c.129G>A	c.(127-129)caG>caA	p.Q43Q	NAIP_ENST00000194097.4_Silent_p.Q43Q|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Silent_p.Q43Q|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	43					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	p.Q43Q(1)		central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTCGCTCCTTCTGCTCCTCTT	0.463000													55	115					0	0	0.014410	0	0
FEZ2	9637	broad.mit.edu	37	2	36808439	36808439	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:36808439C>T	ENST00000379245.4	-	4	676	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	FEZ2_ENST00000405912.3_Missense_Mutation_p.E210K|FEZ2_ENST00000305852.7_Missense_Mutation_p.E39K	NM_001042548.1	NP_001036013.1	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	210					axon guidance|signal transduction		protein binding	p.E210K(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				TTACTCTCTTCATAACTGCCG	0.423000													90	158					0	0	0.014410	0	0
SLC12A9	56996	broad.mit.edu	37	7	100458882	100458882	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:100458882C>G	ENST00000354161.3	+	10	1466	c.1341C>G	c.(1339-1341)ttC>ttG	p.F447L	SLC12A9_ENST00000415287.1_Missense_Mutation_p.F358L|SLC12A9_ENST00000540482.1_Missense_Mutation_p.F447L|SLC12A9_ENST00000428758.1_Missense_Mutation_p.F447L|SLC12A9_ENST00000275729.3_Missense_Mutation_p.F358L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	447						integral to membrane|plasma membrane	cation:chloride symporter activity	p.F447L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCCCAACTTCCGGTGAGAGA	0.642000													35	110					0	0	0.023175	0	0
WBP1	23559	broad.mit.edu	37	2	74686773	74686773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:74686773C>T	ENST00000393972.3	+	3	378	c.175C>T	c.(175-177)Cga>Tga	p.R59*	WBP1_ENST00000409737.1_Intron|WBP1_ENST00000233615.2_Nonsense_Mutation_p.R25*|WBP1_ENST00000494741.1_3'UTR			Q96G27	WBP1_HUMAN	WW domain binding protein 1	25							WW domain binding	p.R25*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCCGCAGCTTCGAGAGCTGTG	0.592000													26	63					0	0	0.018920	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192861	123192861	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:123192861G>A	ENST00000264501.4	+	47	8555	c.8182G>A	c.(8182-8184)Gaa>Aaa	p.E2728K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E2728K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E2728K			Q2LD37	K1109_HUMAN	KIAA1109	2728					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.E2728K(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAGTCTTCAGAAACATTTGG	0.338000													11	36					0	0	0.008291	0	0
PASK	23178	broad.mit.edu	37	2	242066280	242066280	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:242066280G>A	ENST00000403638.3	-	10	2141	c.2050C>T	c.(2050-2052)Ccg>Tcg	p.P684S	PASK_ENST00000358649.4_Missense_Mutation_p.P684S|PASK_ENST00000544142.1_Missense_Mutation_p.P498S|PASK_ENST00000234040.4_Missense_Mutation_p.P684S|PASK_ENST00000405260.1_Missense_Mutation_p.P684S|PASK_ENST00000539818.1_Missense_Mutation_p.P468S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	684			P -> R (in dbSNP:rs56372985).		regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.P684S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CACTCTGTCGGAACGAGTTCG	0.622000													64	82					0	0	0.014410	0	0
ASXL2	55252	broad.mit.edu	37	2	25978935	25978935	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:25978935C>G	ENST00000435504.4	-	10	1281	c.988G>C	c.(988-990)Gaa>Caa	p.E330Q	ASXL2_ENST00000336112.4_Missense_Mutation_p.E302Q|ASXL2_ENST00000404843.1_Missense_Mutation_p.E70Q|ASXL2_ENST00000272341.4_Missense_Mutation_p.E70Q			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.E70Q(1)|p.E330Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAAGAATTCATTGTTAAGG	0.448000													41	93					0	0	0.014410	0	0
FBXO43	286151	broad.mit.edu	37	8	101153669	101153669	+	Silent	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:101153669T>C	ENST00000428847.2	-	2	1129	c.813A>G	c.(811-813)ttA>ttG	p.L271L		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	271					meiosis		zinc ion binding	p.L237L(2)|p.L271L(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CATTAATGCATAAACTGCTAT	0.383000													19	38					0	0	0.006122	0	0
CCDC33	80125	broad.mit.edu	37	15	74588272	74588272	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:74588272G>A	ENST00000321288.5	+	13	1882	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	CCDC33_ENST00000398814.3_Missense_Mutation_p.E425K|CCDC33_ENST00000563951.1_3'UTR			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	628							protein binding	p.E425K(1)|p.E628K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTGGTGCCTGAGATGTCCCA	0.587000													7	12					0	0	0.001984	0	0
CALM1	801	broad.mit.edu	37	14	90867659	90867659	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:90867659A>G	ENST00000356978.4	+	3	339	c.91A>G	c.(91-93)Aag>Gag	p.K31E	CALM1_ENST00000544280.2_5'UTR|CALM1_ENST00000553542.1_5'UTR|CALM1_ENST00000447653.3_Missense_Mutation_p.K32E	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	31	EF-hand 1.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.K31E(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	CATCACAACAAAGGAACTTGG	0.413000													56	27					0	0	0.014410	0	0
HMCES	56941	broad.mit.edu	37	3	129023617	129023617	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:129023617G>A	ENST00000383463.4	+	7	1103	c.1014G>A	c.(1012-1014)ctG>ctA	p.L338L	HMCES_ENST00000417226.2_Silent_p.L296L|HMCES_ENST00000389735.3_Silent_p.L338L|HMCES_ENST00000502878.2_Silent_p.L338L	NM_020187.2	NP_064572.2			5-hydroxymethylcytosine (hmC) binding, ES cell-specific	338								p.L338L(1)									AGCAATGGCTGAAGCGGGAGA	0.562000													19	18					0	0	0.006122	0	0
ASXL2	55252	broad.mit.edu	37	2	25994376	25994376	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:25994376G>A	ENST00000435504.4	-	6	730	c.437C>T	c.(436-438)tCa>tTa	p.S146L	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.S118L|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	146	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.S146L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGGTGGGTGATGGGCAGCC	0.443000													8	28					0	0	0.010729	0	0
STXBP5	134957	broad.mit.edu	37	6	147648368	147648368	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:147648368G>A	ENST00000367481.3	+	18	2144	c.2036G>A	c.(2035-2037)cGg>cAg	p.R679Q	STXBP5_ENST00000321680.6_Missense_Mutation_p.R679Q|STXBP5_ENST00000367480.3_Missense_Mutation_p.R679Q|STXBP5_ENST00000179882.6_Missense_Mutation_p.R350Q	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	679					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.R679Q(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GATCCTTATCGGAGAGAACCC	0.418000													28	57					0	0	0.007291	0	0
BTBD11	121551	broad.mit.edu	37	12	108008937	108008937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:108008937C>T	ENST00000280758.5	+	7	2527	c.1999C>T	c.(1999-2001)Cag>Tag	p.Q667*	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.Q204*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.Q667*|BTBD11_ENST00000490090.2_Nonsense_Mutation_p.Q667*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	667						integral to membrane	DNA binding	p.Q667*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTGTAGTTCAGGTATTAAC	0.438000													8	33					0	0	0.003080	0	0
RTDR1	27156	broad.mit.edu	37	22	23482515	23482515	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:23482515C>T	ENST00000216036.4	-	2	289	c.93G>A	c.(91-93)ctG>ctA	p.L31L	RTDR1_ENST00000406876.1_Silent_p.L31L	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	31							binding	p.L31L(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GCTCCTCCTTCAGCTTGGGCA	0.562000													7	22					0	0	0.003080	0	0
ASIC2	40	broad.mit.edu	37	17	31344625	31344625	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:31344625C>G	ENST00000225823.2	-	8	2391	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q	ASIC2_ENST00000359872.6_Missense_Mutation_p.E456Q	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	456					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.E507*(1)|p.E456*(1)|p.E456Q(1)|p.E507Q(1)								Amiloride(DB00594)	AATCTTACCTCATAAATATAA	0.473000													13	24					0	0	0.020292	0	0
SSPO	23145	broad.mit.edu	37	7	149508033	149508033	+	RNA	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:149508033C>T	ENST00000378016.2	+	0	9427							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGACTGCCCCTGTGCCCA	0.617000													13	24					0	0	0.016723	0	0
USP26	83844	broad.mit.edu	37	X	132161712	132161712	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:132161712C>T	ENST00000511190.1	-	6	1006	c.537G>A	c.(535-537)aaG>aaA	p.K179K	USP26_ENST00000370832.1_Silent_p.K179K|USP26_ENST00000406273.1_Silent_p.K179K	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	179					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.K179K(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTTCCTCTTCTTGTGCT	0.393000													21	42					0	0	0.014323	0	0
TYMS	7298	broad.mit.edu	37	18	670754	670754	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:670754G>A	ENST00000323274.10	+	5	758	c.619G>A	c.(619-621)Gag>Aag	p.E207K	TYMS_ENST00000323224.7_Missense_Mutation_p.E173K|TYMS_ENST00000323250.5_Missense_Mutation_p.E124K|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	207					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	p.E207K(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	GGTGAACAGTGAGCTGTCCTG	0.567000													30	46					0	0	0.012213	0	0
MAP6	4135	broad.mit.edu	37	11	75298211	75298211	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:75298211G>C	ENST00000304771.3	-	4	3085	c.2335C>G	c.(2335-2337)Ctg>Gtg	p.L779V	MAP6_ENST00000526740.1_Missense_Mutation_p.L450V|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	779	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	p.L779V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TGAGTCTTCAGAGGTTCAGGG	0.532000													37	55					0	0	0.021022	0	0
SNAPC2	6618	broad.mit.edu	37	19	7986934	7986934	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:7986934G>A	ENST00000221573.6	+	4	438	c.387G>A	c.(385-387)gcG>gcA	p.A129A	SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	129					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	p.A129A(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TCACCATCGCGGCCACGGAAC	0.632000													5	162					0	0	0.021553	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164682	12164682	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:12164682G>A	ENST00000379388.2	+	9	8477	c.8145G>A	c.(8143-8145)gtG>gtA	p.V2715V	HIVEP1_ENST00000541134.1_Silent_p.V580V	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2715					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.V2715V(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACAGGCTTGTGATAGCAACCT	0.448000													10	31					0	0	0.008291	0	0
NLRP2	55655	broad.mit.edu	37	19	55494635	55494635	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:55494635G>A	ENST00000543010.1	+	6	1712	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	NLRP2_ENST00000391721.4_Silent_p.E499E|NLRP2_ENST00000537859.1_Silent_p.E501E|NLRP2_ENST00000339757.7_Silent_p.E501E|NLRP2_ENST00000538819.1_Silent_p.E499E|NLRP2_ENST00000427260.2_Silent_p.E500E|NLRP2_ENST00000263437.6_Silent_p.E520E|NLRP2_ENST00000448584.2_Silent_p.E523E	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	523	NACHT.|Poly-Glu.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.E523E(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGAGGAAGAGGATAGGGACG	0.557000													19	58					0	0	0.007413	0	0
NUPL2	11097	broad.mit.edu	37	7	23236339	23236339	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:23236339G>A	ENST00000258742.5	+	5	822	c.563G>A	c.(562-564)aGg>aAg	p.R188K		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	188					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	p.R188K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGAGGAACAGGGTAAATGAA	0.328000													25	40					0	0	0.024334	0	0
SCN1A	6323	broad.mit.edu	37	2	166848324	166848324	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:166848324G>C	ENST00000423058.2	-	26	5478	c.5461C>G	c.(5461-5463)Cag>Gag	p.Q1821E	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.Q1821E|SCN1A_ENST00000375405.3_Missense_Mutation_p.Q1810E|SCN1A_ENST00000409050.1_Missense_Mutation_p.Q1793E	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1821						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q1821E(1)|p.Q1810E(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCCATGAACTGAGTTGCATCG	0.443000													34	97					0	0	0.010818	0	0
CSF1R	1436	broad.mit.edu	37	5	149437110	149437110	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:149437110C>T	ENST00000286301.3	-	16	2469	c.2178G>A	c.(2176-2178)atG>atA	p.M726I		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	726	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.M726I(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGACAGGCCTCATCTCCACAT	0.552000													7	22					0	0	0.001984	0	0
RNASE9	390443	broad.mit.edu	37	14	21025034	21025034	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:21025034G>A	ENST00000557068.1	-	4	1920	c.195C>T	c.(193-195)gtC>gtT	p.V65V	RNASE9_ENST00000557209.1_Silent_p.V70V|RNASE9_ENST00000554964.1_Silent_p.V65V|RNASE9_ENST00000404716.3_Silent_p.V70V|RNASE9_ENST00000556208.1_Silent_p.V70V|RNASE9_ENST00000555230.1_Silent_p.V65V|RNASE9_ENST00000553541.1_Silent_p.V65V|RNASE9_ENST00000553706.1_Silent_p.V70V|RNASE9_ENST00000429244.2_Silent_p.V65V|RNASE9_ENST00000338904.3_Silent_p.V65V			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	65						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.V65V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		CACGTCTTTTGACTTTTTCTT	0.363000													46	70					0	0	0.014410	0	0
TRIML2	205860	broad.mit.edu	37	4	189026057	189026057	+	Silent	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:189026057C>G	ENST00000512729.1	-	2	443	c.69G>C	c.(67-69)tcG>tcC	p.S23S	TRIML2_ENST00000536972.1_Silent_p.S73S|TRIML2_ENST00000326754.3_Silent_p.S23S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	23							ligase activity	p.S23S(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GTTTCTCCCTCGATGTGTTCA	0.403000													27	88					0	0	0.027356	0	0
BAIAP3	8938	broad.mit.edu	37	16	1398294	1398294	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:1398294G>C	ENST00000324385.5	+	33	3610	c.3452G>C	c.(3451-3453)aGa>aCa	p.R1151T	BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1088T|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1133T|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1116T|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1093T|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1133T|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R1080T	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1151					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.R1151T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCCGGCCCAGAGCCCAGGGT	0.731000													2	12					0	0	0.004672	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646667	80646667	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:80646667G>A	ENST00000466387.1	+	13	1955	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	CTNNA2_ENST00000343114.3_Missense_Mutation_p.E90K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E411K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E411K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E411K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E411K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E445K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	411					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.E411K(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAGCGGAAATGAAAAGGAAGT	0.458000													4	83					0	0	0.014758	0	0
ASXL2	55252	broad.mit.edu	37	2	25994388	25994388	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:25994388G>T	ENST00000435504.4	-	6	718	c.425C>A	c.(424-426)tCa>tAa	p.S142*	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S114*|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	142	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.S142*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGCAGCCTGACTGCGGGGA	0.453000													8	30					6.40141e-05	6.68125e-05	0.010729	1	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													4	37					0	0	0.014758	0	0
TCL1B	9623	broad.mit.edu	37	14	96152883	96152883	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:96152883G>A	ENST00000340722.7	+	1	130	c.79G>A	c.(79-81)Gag>Aag	p.E27K	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	27								p.E27K(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CTACGAAGATGAGGAGGGGAG	0.642000													22	25					0	0	0.012319	0	0
UNC79	57578	broad.mit.edu	37	14	94088400	94088400	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:94088400G>A	ENST00000553484.1	+	31	5041	c.4887G>A	c.(4885-4887)ctG>ctA	p.L1629L	UNC79_ENST00000555664.1_Silent_p.L1607L|UNC79_ENST00000256339.4_Silent_p.L1430L|UNC79_ENST00000393151.2_Silent_p.L1607L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1607						integral to membrane		p.L1430L(1)|p.L1629L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATTTAGATCTGATAGATCTAT	0.473000													13	35					0	0	0.013537	0	0
RGS7	6000	broad.mit.edu	37	1	240990424	240990424	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:240990424T>A	ENST00000366565.1	-	10	1039	c.658A>T	c.(658-660)Atg>Ttg	p.M220L	RGS7_ENST00000348120.2_Missense_Mutation_p.M167L|RGS7_ENST00000366563.1_Missense_Mutation_p.M220L|RGS7_ENST00000366562.4_Missense_Mutation_p.M220L|RGS7_ENST00000407727.1_Missense_Mutation_p.M220L|RGS7_ENST00000401882.1_Missense_Mutation_p.M167L|RGS7_ENST00000366564.1_Missense_Mutation_p.M220L|RGS7_ENST00000331110.7_Missense_Mutation_p.M194L|RGS7_ENST00000446183.2_Missense_Mutation_p.M136L	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	220					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.M220L(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGGTTTCTCATTCTGGATGAC	0.403000													21	49					0	0	0.014323	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308697	7308697	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:7308697C>T	ENST00000297498.2	-	3	405	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	SPAG11B_ENST00000528168.1_Missense_Mutation_p.R27Q|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000458665.1_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	80					spermatogenesis	extracellular region		p.R80Q(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TGAGGGTCCTCGAGCCTCCCG	0.468000													17	29					0	0	0.004990	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19407999	19407999	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:19407999C>T	ENST00000538714.1	+	5	336	c.332C>T	c.(331-333)tCt>tTt	p.S111F	PLEKHA5_ENST00000543806.1_Missense_Mutation_p.S3F|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.S111F|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.S111F|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.S111F|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.S111F|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.S3F|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.S111F|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.S111F	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	111							1-phosphatidylinositol binding|protein binding	p.S111F(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ACCATGACATCTGAAGAAAAG	0.378000													10	63					0	0	0.008291	0	0
ABCA5	23461	broad.mit.edu	37	17	67270112	67270112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:67270112G>A	ENST00000392676.3	-	20	2816	c.2752C>T	c.(2752-2754)Caa>Taa	p.Q918*	ABCA5_ENST00000588877.1_Nonsense_Mutation_p.Q918*|ABCA5_ENST00000392677.2_Nonsense_Mutation_p.Q918*			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	918					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.Q918*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GCAGAATTTTGAAGAAGCAGA	0.393000													34	49					0	0	0.015359	0	0
TREH	11181	broad.mit.edu	37	11	118529682	118529682	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:118529682G>A	ENST00000529101.1	-	13	1522	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	TREH_ENST00000397925.1_Nonsense_Mutation_p.Q462*|TREH_ENST00000530256.1_Nonsense_Mutation_p.Q370*|TREH_ENST00000525958.1_Nonsense_Mutation_p.Q462*|TREH_ENST00000264029.4_Nonsense_Mutation_p.Q493*			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	493					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	p.Q370*(1)|p.Q493*(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		TGAGCCAGCTGGAAAGCCACT	0.577000											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	42					0	0	0.014410	0	0
DOCK10	55619	broad.mit.edu	37	2	225670030	225670030	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:225670030C>G	ENST00000409592.3	-	36	4039	c.3926G>C	c.(3925-3927)aGa>aCa	p.R1309T	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1315T			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1315							GTP binding	p.R1313T(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGACAAGGGTCTTGGGATCTG	0.418000													40	52					0	0	0.008740	0	0
TIGD5	84948	broad.mit.edu	37	8	144681868	144681868	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:144681868C>G	ENST00000321385.3	+	1	1795	c.1648C>G	c.(1648-1650)Ctg>Gtg	p.L550V	TIGD5_ENST00000504548.2_Missense_Mutation_p.L599V			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	599					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	p.L550V(1)		NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGAAACAGCTCTGCGGTGGCT	0.687000													7	11					0	0	0.003080	0	0
ENTPD2	954	broad.mit.edu	37	9	139945964	139945964	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:139945964G>A	ENST00000355097.2	-	3	431	c.384C>T	c.(382-384)ctC>ctT	p.L128L	ENTPD2_ENST00000312665.5_Silent_p.L128L	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	128						integral to membrane	ATP binding	p.L128L(1)		endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACACTCACTTGAGCAGGCGCA	0.637000													13	25					0	0	0.020292	0	0
HDLBP	3069	broad.mit.edu	37	2	242192385	242192385	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:242192385C>G	ENST00000391975.1	-	11	1586	c.1359G>C	c.(1357-1359)aaG>aaC	p.K453N	HDLBP_ENST00000427183.2_Missense_Mutation_p.K420N|HDLBP_ENST00000391976.2_Missense_Mutation_p.K453N|HDLBP_ENST00000310931.4_Missense_Mutation_p.K453N	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	453	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	p.K453N(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGGCACCGCTCTTCCCAATGA	0.582000													13	74					0	0	0.020292	0	0
ZNF230	7773	broad.mit.edu	37	19	44514437	44514437	+	Silent	SNP	G	G	A	rs150544790		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:44514437G>A	ENST00000429154.2	+	5	474	c.246G>A	c.(244-246)gcG>gcA	p.A82A		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	82	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A82A(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGACTATTGCGGAAGCAGGAC	0.423000													3	36					0	0	0.004672	0	0
HDAC4	9759	broad.mit.edu	37	2	240036766	240036766	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:240036766C>G	ENST00000345617.3	-	13	2550	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	HDAC4_ENST00000543185.1_Missense_Mutation_p.E171Q|HDAC4_ENST00000541256.1_Missense_Mutation_p.E561Q	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	587					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.E587Q(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AAGAGCAGCTCCTGCTCACTG	0.677000													24	30					0	0	0.018920	0	0
RHBDL1	9028	broad.mit.edu	37	16	726497	726497	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:726497G>A	ENST00000219551.2	+	1	423	c.396G>A	c.(394-396)ctG>ctA	p.L132L	RHBDL1_ENST00000352681.3_Splice_Site_p.L67L			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	132					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	p.L132L(1)		endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				TGGTGGACCTGGTCAGTGCCA	0.706000													14	7					0	0	0.020292	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27501157	27501157	+	Missense_Mutation	SNP	G	G	A	rs145408176		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:27501157G>A	ENST00000406962.1	+	3	380	c.215G>A	c.(214-216)gGa>gAa	p.G72E	DNAJC5G_ENST00000404433.1_Silent_p.G143G|DNAJC5G_ENST00000402462.1_Silent_p.G159G|DNAJC5G_ENST00000296097.3_Silent_p.G159G			Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	0	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.G159G(1)		cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGATAGTGGGAGAAAATATC	0.473000													3	24					0	0	0.004672	0	0
TRPM3	80036	broad.mit.edu	37	9	73233873	73233873	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:73233873G>A	ENST00000377110.3	-	16	2475	c.2232C>T	c.(2230-2232)caC>caT	p.H744H	TRPM3_ENST00000357533.2_Silent_p.H748H|TRPM3_ENST00000358082.3_Silent_p.H606H|TRPM3_ENST00000396285.1_Silent_p.H591H|TRPM3_ENST00000423814.3_Silent_p.H771H|TRPM3_ENST00000360823.2_Silent_p.H606H|TRPM3_ENST00000396292.4_Silent_p.H616H|TRPM3_ENST00000377106.1_Silent_p.H616H|TRPM3_ENST00000377111.2_Silent_p.H744H|TRPM3_ENST00000396280.5_Silent_p.H593H|TRPM3_ENST00000408909.2_Silent_p.H603H|TRPM3_ENST00000377105.1_Silent_p.H603H			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity	p.H616H(1)|p.H748H(1)|p.H744H(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGAAGTCGCGGTGTTTGGCAG	0.612000													18	13					0	0	0.006122	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767490	77767490	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:77767490C>T	ENST00000521891.2	+	10	8781	c.8333C>T	c.(8332-8334)tCt>tTt	p.S2778F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2733F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2733F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2752F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2733						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S2762F(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGAGTGTTCTGAGGATGTA	0.403000										HNSCC(33;0.089)			13	18					0	0	0.020292	0	0
CD19	930	broad.mit.edu	37	16	28950083	28950083	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:28950083G>A	ENST00000538922.1	+	13	1638	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	CD19_ENST00000324662.3_Missense_Mutation_p.E525K|CD19_ENST00000567541.1_Missense_Mutation_p.E526K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	525					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	p.E525K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ACCCAATCATGAGGAAGGTGG	0.622000													21	31					0	0	0.014323	0	0
PARP9	83666	broad.mit.edu	37	3	122247537	122247537	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:122247537C>T	ENST00000360356.2	-	11	2466	c.2239G>A	c.(2239-2241)Gag>Aag	p.E747K	PARP9_ENST00000477522.2_Missense_Mutation_p.E712K|PARP9_ENST00000471785.1_Missense_Mutation_p.E712K|PARP9_ENST00000492382.1_Missense_Mutation_p.E292K	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	747	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	p.E747K(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TTGGCCTTCTCTGCCAGGTTT	0.378000													42	68					0	0	0.010771	0	0
NCF2	4688	broad.mit.edu	37	1	183542321	183542321	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:183542321G>A	ENST00000413720.1	-	4	747	c.473C>T	c.(472-474)aCg>aTg	p.T158M	NCF2_ENST00000367535.3_Splice_Site_p.T203M|NCF2_ENST00000418089.1_Intron|NCF2_ENST00000367536.1_Splice_Site_p.T203M	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	203					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	p.T203M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CCCACCTACCGTCGCCTTGCC	0.572000													90	130					0	0	0.014410	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973831	46973831	+	Silent	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:46973831C>A	ENST00000313683.10	-	2	767	c.462G>T	c.(460-462)ctG>ctT	p.L154L	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Silent_p.L154L	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	154								p.L154L(4)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCACTGCTCCCAGAAGCACCc	0.637000													30	70					1.74807e-11	1.91886e-11	0.010818	1	0
RSBN1	54665	broad.mit.edu	37	1	114310974	114310974	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:114310974G>C	ENST00000261441.5	-	5	1759	c.1696C>G	c.(1696-1698)Cgg>Ggg	p.R566G		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	566						nucleus		p.R566G(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACTGGTCCGAGGTAGGTAC	0.428000													12	63					0	0	0.020292	0	0
ASTN1	460	broad.mit.edu	37	1	176903363	176903363	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:176903363C>T	ENST00000367654.3	-	16	2831	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	ASTN1_ENST00000361833.2_Missense_Mutation_p.E866K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E866K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E866K	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane		p.E866K(1)|p.E865>?(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAACAGGACTCCTCAAAGCCG	0.517000													9	61					0	0	0.004482	0	0
FAM198B	51313	broad.mit.edu	37	4	159092463	159092463	+	Missense_Mutation	SNP	C	C	G	rs148186776		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:159092463C>G	ENST00000296530.8	-	2	686	c.65G>C	c.(64-66)cGg>cCg	p.R22P	RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.R22P|FAM198B_ENST00000585682.1_Missense_Mutation_p.R22P|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Missense_Mutation_p.R22P	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	22						Golgi membrane|integral to membrane		p.R22P(3)|p.R22L(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CTTACGCACCCGCGGGACGCA	0.587000													14	54					0	0	0.024245	0	0
PTPRB	5787	broad.mit.edu	37	12	70986212	70986212	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:70986212G>A	ENST00000334414.6	-	7	1674	c.1630C>T	c.(1630-1632)Cac>Tac	p.H544Y	PTPRB_ENST00000550358.1_Missense_Mutation_p.H544Y|PTPRB_ENST00000451516.2_Missense_Mutation_p.H326Y|PTPRB_ENST00000550857.1_Missense_Mutation_p.H326Y|PTPRB_ENST00000261266.5_Missense_Mutation_p.H326Y|PTPRB_ENST00000551525.1_Missense_Mutation_p.H543Y|PTPRB_ENST00000538708.1_Missense_Mutation_p.H326Y|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	326	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.H326Y(2)|p.H544Y(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTCCCTTTGTGAGACAGGGTG	0.418000													6	47					0	0	0.021553	0	0
ZNF496	84838	broad.mit.edu	37	1	247464253	247464253	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:247464253G>A	ENST00000294753.4	-	9	1796	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	ZNF496_ENST00000366498.2_Silent_p.F480F|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	444					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F444F(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGCTGTCGCTGAACAGCTCCC	0.642000													40	50					0	0	0.025465	0	0
GGA3	23163	broad.mit.edu	37	17	73235955	73235955	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:73235955C>A	ENST00000245541.6	-	13	1714	c.1498G>T	c.(1498-1500)Gtc>Ttc	p.V500F	GGA3_ENST00000582717.1_Missense_Mutation_p.V428F|GGA3_ENST00000578348.1_Missense_Mutation_p.V378F|GGA3_ENST00000582486.1_Missense_Mutation_p.V428F|GGA3_ENST00000538886.1_Missense_Mutation_p.V378F|GGA3_ENST00000351904.7_Missense_Mutation_p.V467F	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	500	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.V500F(1)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TGCCCAGGGACTGCGGGCTCA	0.617000													8	24					3.07112e-06	3.26787e-06	0.010729	1	0
NSD1	64324	broad.mit.edu	37	5	176721219	176721219	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:176721219G>C	ENST00000439151.2	+	23	6895	c.6850G>C	c.(6850-6852)Gag>Cag	p.E2284Q	NSD1_ENST00000347982.4_Missense_Mutation_p.E2015Q|NSD1_ENST00000354179.4_Missense_Mutation_p.E2015Q|NSD1_ENST00000361032.4_Missense_Mutation_p.E2181Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2284	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.E2284Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGACCTCTTGAGAGAACTGA	0.537000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			42	111					0	0	0.014410	0	0
CUL9	23113	broad.mit.edu	37	6	43155601	43155601	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:43155601G>A	ENST00000252050.4	+	7	1816	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	CUL9_ENST00000354495.3_Missense_Mutation_p.E468K|CUL9_ENST00000372647.2_Missense_Mutation_p.E578K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	578					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.E578K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCTGTCTAATGAACCAAGCAG	0.522000													20	41					0	0	0.010504	0	0
TICAM1	148022	broad.mit.edu	37	19	4816641	4816641	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:4816641C>A	ENST00000248244.5	-	2	1978	c.1749G>T	c.(1747-1749)caG>caT	p.Q583H		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	583	Sufficient to induce apoptosis.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	p.Q583H(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCTGCTCCATCTGTGCCTGGT	0.632000													5	42					3.59834e-05	3.77628e-05	0.021553	1	0
ZNF180	7733	broad.mit.edu	37	19	44981167	44981167	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:44981167G>A	ENST00000221327.4	-	5	1812	c.1531C>T	c.(1531-1533)Cat>Tat	p.H511Y	ZNF180_ENST00000592529.1_Missense_Mutation_p.H484Y|ZNF180_ENST00000391956.4_Missense_Mutation_p.H486Y	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H511Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GTTCTCTGATGAGCAACAAGT	0.393000													18	86					0	0	0.004990	0	0
KMT2C	58508	broad.mit.edu	37	7	152027735	152027735	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:152027735C>T	ENST00000355193.2	-	3	558	c.340G>A	c.(340-342)Gag>Aag	p.E114K	KMT2C_ENST00000262189.6_Missense_Mutation_p.E114K					lysine (K)-specific methyltransferase 2C									p.E114K(2)									GCCGATTCCTCAGACACAGAT	0.433000													17	84					0	0	0.006122	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33110210	33110210	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:33110210C>A	ENST00000267068.3	-	2	1119	c.955G>T	c.(955-957)Gta>Tta	p.V319L	N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.V319L|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	319								p.V319L(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CAATTATTTACATAATATCCA	0.348000													22	49					2.27731e-05	2.40312e-05	0.012319	1	0
SYT3	84258	broad.mit.edu	37	19	51129249	51129249	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:51129249T>C	ENST00000338916.4	-	5	1940	c.1307A>G	c.(1306-1308)aAc>aGc	p.N436S	SYT3_ENST00000544769.1_Missense_Mutation_p.N436S|SYT3_ENST00000600079.1_Missense_Mutation_p.N436S|SYT3_ENST00000593901.1_Missense_Mutation_p.N436S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	436	C2 2.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.N436S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GAGTGAGAAGTTGAGCTCCCC	0.557000													6	10					0	0	0.001984	0	0
DNPH1	10591	broad.mit.edu	37	6	43194090	43194090	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:43194090G>A	ENST00000393987.2	-	2	261	c.240C>T	c.(238-240)gaC>gaT	p.D80D	DNPH1_ENST00000230431.6_Silent_p.D80D	NM_199184.1	NP_954653.1			2'-deoxynucleoside 5'-phosphate N-hydrolase 1									p.D80D(2)									GCCACTCCAGGTCCTGCTCAT	0.617000													7	31					0	0	0.003080	0	0
DLX3	1747	broad.mit.edu	37	17	48070801	48070801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:48070801G>A	ENST00000434704.2	-	2	704	c.479C>T	c.(478-480)gCc>gTc	p.A160V	DLX3_ENST00000512495.2_Missense_Mutation_p.A40V	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	160						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A160V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGCCAGCTCGGCGCGCTCGGG	0.711000													3	14					0	0	0.014758	0	0
RP9	6100	broad.mit.edu	37	7	33139017	33139017	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:33139017G>C	ENST00000297157.3	-	3	232	c.215C>G	c.(214-216)cCa>cGa	p.P72R		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	72	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	p.P72R(2)		large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TGGTACATCTGGTATGCAATC	0.483000													4	72					0	0	0.014758	0	0
OSBPL10	114884	broad.mit.edu	37	3	31710301	31710301	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:31710301C>T	ENST00000396556.2	-	10	2051	c.1929G>A	c.(1927-1929)gtG>gtA	p.V643V	OSBPL10_ENST00000438237.2_Silent_p.V579V	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	643					lipid transport		lipid binding	p.V643V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GGTTGTGCTTCACTTCTGCGG	0.393000													44	36					0	0	0.013114	0	0
NAT16	375607	broad.mit.edu	37	7	100817751	100817751	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:100817751C>T	ENST00000443096.1	-	2	515	c.338G>A	c.(337-339)tGa>tAa	p.*113*	NAT16_ENST00000455377.1_Intron|NAT16_ENST00000300303.2_Intron			Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	0	N-acetyltransferase.						N-acetyltransferase activity										CACCCCATGTCACCTGGGCCG	0.662000													5	10					0	0	0.014758	0	0
CLCN4	1183	broad.mit.edu	37	X	10176604	10176604	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:10176604G>T	ENST00000380833.4	+	9	1754	c.1363G>T	c.(1363-1365)Gtt>Ttt	p.V455F	CLCN4_ENST00000421085.2_Missense_Mutation_p.V361F|CLCN4_ENST00000380829.1_Missense_Mutation_p.V424F	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	455						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.V455F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAATCGTCGTTACCATATT	0.527000													70	18					2.09306e-48	2.37255e-48	0.014410	1	0
PUM1	9698	broad.mit.edu	37	1	31478834	31478834	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:31478834G>C	ENST00000373747.3	-	5	685	c.586C>G	c.(586-588)Cag>Gag	p.Q196E	PUM1_ENST00000373741.4_Missense_Mutation_p.Q232E|PUM1_ENST00000257075.5_Missense_Mutation_p.Q196E|PUM1_ENST00000423018.2_Intron|PUM1_ENST00000440538.2_Missense_Mutation_p.Q196E|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000426105.2_Missense_Mutation_p.Q196E	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	196					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	p.Q196E(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGGAAACTCTGACCAGGTCTT	0.468000													10	36					0	0	0.006214	0	0
LCT	3938	broad.mit.edu	37	2	136570082	136570082	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:136570082G>A	ENST00000264162.2	-	7	2162	c.2152C>T	c.(2152-2154)Ccc>Tcc	p.P718S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	718	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.P718S(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGGTCTGGGGCCACACATGG	0.517000													22	41					0	0	0.014323	0	0
NUMA1	4926	broad.mit.edu	37	11	71719867	71719867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:71719867G>A	ENST00000393695.3	-	20	5414	c.5083C>T	c.(5083-5085)Cga>Tga	p.R1695*	NUMA1_ENST00000358965.6_Nonsense_Mutation_p.R1681*|NUMA1_ENST00000351960.6_Nonsense_Mutation_p.R559*	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1695					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.R1695*(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCAGGTCTCGAAGCTGCTGG	0.582000			T	RARA	APL								17	80					0	0	0.028581	0	0
MKL2	57496	broad.mit.edu	37	16	14340888	14340888	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:14340888G>C	ENST00000571589.1	+	12	1943	c.1771G>C	c.(1771-1773)Gag>Cag	p.E591Q	MKL2_ENST00000574045.1_Missense_Mutation_p.E591Q|MKL2_ENST00000318282.5_Missense_Mutation_p.E591Q|MKL2_ENST00000341243.5_Missense_Mutation_p.E580Q	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	580	Required for interaction with itself and with MKL1.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	p.E591Q(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTGGAACAAGAGCAGAAGCT	0.532000													7	38					0	0	0.003080	0	0
FAM174A	345757	broad.mit.edu	37	5	99897787	99897787	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:99897787G>C	ENST00000312637.4	+	2	690	c.464G>C	c.(463-465)aGa>aCa	p.R155T	FAM174A_ENST00000505792.1_3'UTR	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	155						integral to membrane		p.R155I(1)|p.R155T(1)		breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AAGACTAGGAGATATGGAGTT	0.294000													12	33					0	0	0.010729	0	0
ABCA13	154664	broad.mit.edu	37	7	48315084	48315084	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:48315084G>C	ENST00000435803.1	+	17	5845	c.5821G>C	c.(5821-5823)Gaa>Caa	p.E1941Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1941					transport	integral to membrane	ATP binding|ATPase activity	p.E1941Q(1)|p.E1886Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGCATCTCTGAACTCTGTCC	0.338000													47	88					0	0	0.014410	0	0
ZNF786	136051	broad.mit.edu	37	7	148769089	148769089	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:148769089G>A	ENST00000316286.9	-	3	789	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	ZNF786_ENST00000491431.1_Silent_p.L259L|ZNF786_ENST00000451334.3_Silent_p.L222L			Q8N393	ZN786_HUMAN	zinc finger protein 786	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L258L(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGGCCGCCAGATGGCGCAGC	0.677000													10	19					0	0	0.006214	0	0
TXNRD2	10587	broad.mit.edu	37	22	19864662	19864662	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:19864662C>A	ENST00000535882.1	-	17	1537	c.1538G>T	c.(1537-1539)gGc>gTc	p.G513V	TXNRD2_ENST00000400521.1_Missense_Mutation_p.G514V|TXNRD2_ENST00000400519.1_Missense_Mutation_p.G513V|TXNRD2_ENST00000542719.1_Missense_Mutation_p.G484V|TXNRD2_ENST00000400518.1_Missense_Mutation_p.G484V			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	514					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	p.G514V(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GGGGTCCAGGCCTGAGCGCTT	0.667000													12	6					1.36491e-13	1.51129e-13	0.016723	1	0
TSC22D4	81628	broad.mit.edu	37	7	100075057	100075057	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:100075057T>A	ENST00000300181.2	-	2	1359	c.605A>T	c.(604-606)gAg>gTg	p.E202V	TSC22D4_ENST00000393991.1_5'UTR|TSC22D4_ENST00000496728.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	202					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.E202V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCGCACTCTCACCGGTCTC	0.711000													11	13					0	0	0.008291	0	0
BIK	638	broad.mit.edu	37	22	43520163	43520163	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:43520163C>T	ENST00000216115.2	+	2	198	c.135C>T	c.(133-135)ttC>ttT	p.F45F		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	45					apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		p.F45F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				TGGAGGACTTCGATTCTTTGG	0.567000													33	62					0	0	0.017118	0	0
WHSC1	7468	broad.mit.edu	37	4	1957529	1957529	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:1957529G>A	ENST00000382895.3	+	16	3059	c.2628G>A	c.(2626-2628)aaG>aaA	p.K876K	WHSC1_ENST00000508803.1_Silent_p.K876K|WHSC1_ENST00000382888.3_Silent_p.K224K|WHSC1_ENST00000382892.2_Silent_p.K876K|WHSC1_ENST00000382891.5_Silent_p.K876K|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	876					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.K876K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGCTGGGAAGAAGCTGCACT	0.507000			T	IGH@	MM								17	34					0	0	0.028581	0	0
RPRD2	23248	broad.mit.edu	37	1	150443792	150443792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:150443792C>T	ENST00000401000.4	+	10	2355	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Nonsense_Mutation_p.R790*|RPRD2_ENST00000539519.1_Nonsense_Mutation_p.R764*			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	790	Ser-rich.						protein binding	p.R790*(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATCTACATATCGACCCTTTGG	0.507000													17	40					0	0	0.028581	0	0
TICAM1	148022	broad.mit.edu	37	19	4816911	4816911	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:4816911C>G	ENST00000248244.5	-	2	1708	c.1479G>C	c.(1477-1479)gaG>gaC	p.E493D		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	493					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	p.E493D(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCGGGGAGCTCTCCAGGGGCA	0.652000													6	29					0	0	0.001984	0	0
TFEC	22797	broad.mit.edu	37	7	115580778	115580778	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:115580778C>G	ENST00000265440.7	-	8	1051	c.871G>C	c.(871-873)Gat>Cat	p.D291H	TFEC_ENST00000320239.7_Missense_Mutation_p.D262H|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000457268.1_Missense_Mutation_p.D224H	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	291	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.D291H(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			AATGATAAATCTGTGAAGTAT	0.433000													55	106					0	0	0.014410	0	0
ITFG1	81533	broad.mit.edu	37	16	47347638	47347638	+	Splice_Site	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:47347638A>G	ENST00000320640.6	-	9	1126		c.e9+1		ITFG1_ENST00000544001.2_Splice_Site|RP11-474B12.1_ENST00000564739.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1							extracellular region|integral to membrane		p.?(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AACTTGATATACCTGCTTCAT	0.363000													18	31					0	0	0.008871	0	0
MYO18A	399687	broad.mit.edu	37	17	27437053	27437053	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:27437053C>T	ENST00000527372.1	-	19	3334	c.3154G>A	c.(3154-3156)Gag>Aag	p.E1052K	MYO18A_ENST00000533112.1_Missense_Mutation_p.E1052K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1052K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1052K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1052	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.E1052K(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCCCAGCCCTCAGCTACAGGC	0.647000													8	24					0	0	0.004482	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729146	37729146	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:37729146C>G	ENST00000330843.4	-	4	3186	c.3174G>C	c.(3172-3174)aaG>aaC	p.K1058N	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1058					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.K1058N(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGCTTGAGCTCTTGCCAAGAT	0.557000													56	98					0	0	0.014410	0	0
GTSE1	51512	broad.mit.edu	37	22	46725395	46725395	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:46725395G>C	ENST00000454366.1	+	11	2279	c.2067G>C	c.(2065-2067)ctG>ctC	p.L689L		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	670					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.L670L(1)|p.L689L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GCAGGCCTCTGATCGACCTCA	0.527000													43	80					0	0	0.007835	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035800	110035800	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:110035800C>A	ENST00000453089.2	+	5	2778	c.1897C>A	c.(1897-1899)Cac>Aac	p.H633N	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.H665N|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.H664N			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	664							endonuclease activity|nucleic acid binding|zinc ion binding	p.H664N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GAAGTGTCAACACATGCACCC	0.522000													57	57					2.08403e-16	2.31424e-16	0.014410	1	0
BST1	683	broad.mit.edu	37	4	15716979	15716979	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:15716979C>G	ENST00000382346.3	+	6	700	c.651C>G	c.(649-651)atC>atG	p.I217M	BST1_ENST00000265016.4_Missense_Mutation_p.I202M			Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	202					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity	p.I202M(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						CCTATCCCATCAAAGGGTAAG	0.388000													10	22					0	0	0.010729	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990777	39990777	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:39990777C>T	ENST00000332312.3	-	4	1624	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	478						proteinaceous extracellular matrix		p.E478K(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AGGCGCTCCTCGAGGCTCTGC	0.637000													14	62					0	0	0.020292	0	0
BRD8	10902	broad.mit.edu	37	5	137506551	137506551	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:137506551C>G	ENST00000254900.5	-	6	781	c.410G>C	c.(409-411)aGa>aCa	p.R137T	BRD8_ENST00000230901.5_Missense_Mutation_p.R137T|BRD8_ENST00000402931.1_Missense_Mutation_p.R137T|BRD8_ENST00000411594.2_Missense_Mutation_p.R137T|BRD8_ENST00000455658.2_Missense_Mutation_p.R96T	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	137					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.R137T(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCATCCAGTCTGCTGTCCAT	0.403000													55	22					0	0	0.014410	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30722669	30722669	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:30722669C>T	ENST00000215790.7	-	1	366	c.202G>A	c.(202-204)Gag>Aag	p.E68K	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.E68K	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	68						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.E68K(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACGCGCCCTCGGCGCCCTGC	0.716000													4	20					0	0	0.014758	0	0
SLC22A10	387775	broad.mit.edu	37	11	63066993	63066993	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:63066993G>A	ENST00000544661.1	+	7	925	c.497G>A	c.(496-498)aGa>aAa	p.R166K	SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_Missense_Mutation_p.R111K|SLC22A10_ENST00000332793.6_Missense_Mutation_p.R321K|SLC22A10_ENST00000526800.1_Missense_Mutation_p.R161K			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	321						integral to membrane	transmembrane transporter activity	p.R321K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAGGTTGTAAGATCCACCATG	0.423000													10	22					0	0	0.010729	0	0
TRPV3	162514	broad.mit.edu	37	17	3433367	3433367	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:3433367G>A	ENST00000301365.4	-	9	1327	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M	TRPV3_ENST00000576742.1_Missense_Mutation_p.T399M|TRPV3_ENST00000572519.1_Missense_Mutation_p.T399M			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	399						integral to membrane	calcium channel activity	p.T399M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TGAGTTGTCCGTGGTGGTGTC	0.607000													30	18					0	0	0.015359	0	0
SMARCA4	6597	broad.mit.edu	37	19	11123707	11123707	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:11123707C>A	ENST00000358026.2	+	16	2641	c.2357C>A	c.(2356-2358)aCc>aAc	p.T786N	SMARCA4_ENST00000450717.3_Missense_Mutation_p.T786N|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T786N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T786N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T786N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T786N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T786N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T786N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T786N|CTC-215O4.4_ENST00000587831.1_RNA	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	786	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.T786N(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGGGGAAGACCATCCAGACC	0.577000			"""F, N, Mis"""		NSCLC								18	26					3.52763e-06	3.74321e-06	0.004990	1	0
SDS	10993	broad.mit.edu	37	12	113830871	113830871	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:113830871C>T	ENST00000257549.4	-	8	984	c.862G>A	c.(862-864)Gag>Aag	p.E288K		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	288					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	p.E288K(1)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGATTCCCCTCCAGTTGGAGC	0.652000													57	92					0	0	0.014410	0	0
INSR	3643	broad.mit.edu	37	19	7267597	7267597	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:7267597C>T	ENST00000341500.5	-	2	450	c.411G>A	c.(409-411)atG>atA	p.M137I	INSR_ENST00000302850.5_Missense_Mutation_p.M137I	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	137					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.M137I(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGTGATGTTCATCAGGTTGT	0.522000													15	44					0	0	0.020292	0	0
PALB2	79728	broad.mit.edu	37	16	23646501	23646501	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:23646501C>G	ENST00000261584.4	-	4	1518	c.1366G>C	c.(1366-1368)Gag>Cag	p.E456Q		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	456					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.E456Q(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCAGTTTCCTCATTGGAAAGG	0.378000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					33	86					0	0	0.013726	0	0
CD248	57124	broad.mit.edu	37	11	66082600	66082600	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:66082600G>A	ENST00000311330.3	-	1	1915	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	633	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.I633I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GTGTAGGGCTGATGGGTGAGG	0.632000													24	42					0	0	0.016522	0	0
CD1D	912	broad.mit.edu	37	1	158151886	158151886	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:158151886C>G	ENST00000368171.3	+	4	892	c.393C>G	c.(391-393)ttC>ttG	p.F131L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	131					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.F131L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAAATAACTTCTTCCATGTAG	0.498000													104	223					0	0	0.014410	0	0
PTPRN	5798	broad.mit.edu	37	2	220161229	220161229	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:220161229C>A	ENST00000295718.2	-	17	2560	c.2320G>T	c.(2320-2322)Gac>Tac	p.D774Y	PTPRN_ENST00000409251.3_Missense_Mutation_p.D745Y|PTPRN_ENST00000423636.2_Missense_Mutation_p.D684Y|PTPRN_ENST00000497977.1_5'UTR	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	774	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.D774Y(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		ATCCGAGGGTCATGCTCAATC	0.592000													17	39					3.41278e-10	3.7142e-10	0.004990	1	0
AKAP6	9472	broad.mit.edu	37	14	32902953	32902953	+	Missense_Mutation	SNP	G	G	A	rs148757348		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:32902953G>A	ENST00000280979.4	+	2	424	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Missense_Mutation_p.R85Q|AKAP6_ENST00000557354.1_Missense_Mutation_p.R85Q	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	85					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.R85Q(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGAGGGTCCGAGACCTAACC	0.502000													20	17					0	0	0.007413	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227360	43227360	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:43227360C>T	ENST00000332499.2	+	1	2677	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	268					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	p.S268L(1)		breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGGGACTTCTCGGAGACGTAC	0.602000													19	31					0	0	0.007413	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21556227	21556227	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:21556227C>T	ENST00000298694.4	+	22	4615	c.4488C>T	c.(4486-4488)gcC>gcT	p.A1496A	ARHGEF40_ENST00000298693.3_Silent_p.A1448A			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1496					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.A1496A(1)		large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCACCCTGGCCAGTCGAGGGA	0.567000													22	23					0	0	0.012319	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482301	140482301	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:140482301C>T	ENST00000231130.2	+	1	2068	c.2068C>T	c.(2068-2070)Ctg>Ttg	p.L690L		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		690					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.L690L(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGTCTACCTGGTGGTGGC	0.682000													7	132					0	0	0.007413	0	0
KDM2A	22992	broad.mit.edu	37	11	67021049	67021049	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:67021049C>T	ENST00000529006.2	+	19	3504	c.3058C>T	c.(3058-3060)Cgg>Tgg	p.R1020W	KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.R478W|KDM2A_ENST00000530342.1_Missense_Mutation_p.R581W	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1020					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.R1020W(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CCCTCAAATTCGGGACTTGCT	0.552000													59	76					0	0	0.014410	0	0
KCNA10	3744	broad.mit.edu	37	1	111060995	111060995	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:111060995C>G	ENST00000369771.2	-	1	802	c.415G>C	c.(415-417)Gat>Cat	p.D139H		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	139						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.D139H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGGATTCCATCAAAACTGGGC	0.453000													31	64					0	0	0.008361	0	0
REXO1	57455	broad.mit.edu	37	19	1818820	1818820	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:1818820G>A	ENST00000170168.4	-	9	2881	c.2787C>T	c.(2785-2787)ctC>ctT	p.L929L		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	929						nucleus	exonuclease activity|nucleic acid binding	p.L929L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTACTCCCTGAGGCGGCTGT	0.677000													8	17					0	0	0.004482	0	0
C4orf17	84103	broad.mit.edu	37	4	100463168	100463168	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:100463168C>G	ENST00000326581.4	+	9	1344	c.982C>G	c.(982-984)Cag>Gag	p.Q328E		NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	328								p.Q328E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GCCTAACACTCAGGAGAGTGG	0.433000													14	50					0	0	0.020292	0	0
CSE1L	1434	broad.mit.edu	37	20	47691370	47691370	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:47691370G>C	ENST00000262982.2	+	11	1238	c.1115G>C	c.(1114-1116)aGa>aCa	p.R372T	CSE1L_ENST00000396192.3_Missense_Mutation_p.R316T|CSE1L_ENST00000542325.1_Missense_Mutation_p.R155T	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	372					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	p.R372T(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TACATAAGGAGAGATTTGGAA	0.388000													18	33					0	0	0.004990	0	0
SUPT20H	55578	broad.mit.edu	37	13	37618294	37618294	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:37618294T>C	ENST00000360252.4	-	7	567	c.320A>G	c.(319-321)tAt>tGt	p.Y107C	SUPT20H_ENST00000475892.1_Missense_Mutation_p.Y106C|SUPT20H_ENST00000542180.1_Missense_Mutation_p.Y94C|SUPT20H_ENST00000464744.1_Missense_Mutation_p.Y107C|SUPT20H_ENST00000356185.3_Missense_Mutation_p.Y107C|SUPT20H_ENST00000350612.6_Missense_Mutation_p.Y106C|SUPT20H_ENST00000470359.2_5'UTR	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)									p.Y106C(1)									TCCTTCTTCATAGGGCAGTCG	0.338000													26	27					0	0	0.007291	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140856170	140856170	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:140856170G>A	ENST00000308177.3	+	1	591	c.487G>A	c.(487-489)Gat>Aat	p.D163N	PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1												p.D163N(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACGATCCCGATGTGGGAAG	0.567000													18	55					0	0	0.008871	0	0
KRT74	121391	broad.mit.edu	37	12	52967248	52967248	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:52967248G>A	ENST00000549343.1	-	1	352	c.314C>T	c.(313-315)tCt>tTt	p.S105F	KRT74_ENST00000305620.2_Missense_Mutation_p.S105F			Q7RTS7	K2C74_HUMAN	keratin 74	105	Gly-rich.|Head.					keratin filament	structural molecule activity	p.S105F(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGGGCACACAGACAAACATGC	0.637000													35	48					0	0	0.015359	0	0
CREBBP	1387	broad.mit.edu	37	16	3820792	3820792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:3820792G>A	ENST00000262367.5	-	14	3468	c.2659C>T	c.(2659-2661)Cag>Tag	p.Q887*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q849*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	887					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.Q887*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTTGATGGCTGAGTGGGAGCT	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						40	14					0	0	0.025465	0	0
CDC16	8881	broad.mit.edu	37	13	115008757	115008757	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:115008757C>T	ENST00000360383.3	+	7	765	c.567C>T	c.(565-567)ccC>ccT	p.P189P	CDC16_ENST00000356221.3_Silent_p.P189P|CDC16_ENST00000252457.5_Silent_p.P188P|CDC16_ENST00000252458.6_Silent_p.P95P|CDC16_ENST00000375310.1_Silent_p.P95P|CDC16_ENST00000375312.3_Silent_p.P95P|CDC16_ENST00000375308.1_Silent_p.P95P	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	p.P188P(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AATCACTACCCCTTAGCAAGC	0.308000													21	58					0	0	0.018920	0	0
SWT1	54823	broad.mit.edu	37	1	185144079	185144079	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:185144079G>C	ENST00000367500.4	+	5	965	c.800G>C	c.(799-801)aGa>aCa	p.R267T	SWT1_ENST00000367501.3_Missense_Mutation_p.R267T	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	267								p.R267T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CAGGAAGAAAGAGAATACCTG	0.368000													54	88					0	0	0.014410	0	0
CDKN1A	1026	broad.mit.edu	37	6	36652060	36652060	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:36652060G>T	ENST00000405375.1	+	2	417	c.182G>T	c.(181-183)gGt>gTt	p.G61V	CDKN1A_ENST00000373711.2_Missense_Mutation_p.G61V|CDKN1A_ENST00000244741.5_Missense_Mutation_p.G61V|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Missense_Mutation_p.G95V	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	61					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	p.G61V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CCACTGGAGGGTGACTTCGCC	0.672000													14	29					2.61681e-11	2.86425e-11	0.020292	1	0
LMO7	4008	broad.mit.edu	37	13	76409323	76409323	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:76409323C>T	ENST00000526202.1	+	13	2193	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W	LMO7_ENST00000377534.3_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000357063.3_Intron|LMO7_ENST00000321797.8_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	1127						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GCCATTTATACGGCATAAAAC	0.393000													18	28					0	0	0.004990	0	0
ZZZ3	26009	broad.mit.edu	37	1	78045314	78045314	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:78045314C>G	ENST00000370801.3	-	10	2456		c.e10-1		ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Splice_Site	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCAGCTTTTTCTAAGCCATAC	0.333000													37	70					0	0	0.025465	0	0
EFCC1	79825	broad.mit.edu	37	3	128753034	128753034	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:128753034C>T	ENST00000480450.1	+	5	1311	c.1311C>T	c.(1309-1311)ctC>ctT	p.L437L	EFCC1_ENST00000436022.2_5'UTR					EF-hand and coiled-coil domain containing 1									p.L437L(1)									CGGAGAAGCTCATGACTTACT	0.622000													23	56					0	0	0.018920	0	0
MAK16	84549	broad.mit.edu	37	8	33346598	33346598	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:33346598G>A	ENST00000360128.6	+	5	790	c.333G>A	c.(331-333)caG>caA	p.Q111Q	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	111						nucleolus		p.Q111Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						AATGTAAGCAGAGATTCACCA	0.353000													40	60					0	0	0.023175	0	0
SSPO	23145	broad.mit.edu	37	7	149509070	149509070	+	RNA	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:149509070C>T	ENST00000378016.2	+	0	9616							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGTGCCATCGGCACCGGTT	0.697000													23	28					0	0	0.014323	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													7	42					0	0	0.003080	0	0
PREX2	80243	broad.mit.edu	37	8	69046488	69046488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:69046488C>T	ENST00000288368.4	+	32	4238	c.3961C>T	c.(3961-3963)Cag>Tag	p.Q1321*		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1321					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.Q1321*(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTTCACTTTCAGTCACTTCT	0.438000													17	25					0	0	0.012319	0	0
ZNF124	7678	broad.mit.edu	37	1	247323048	247323048	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:247323048G>A	ENST00000472531.1	-	2	225	c.98C>T	c.(97-99)tCc>tTc	p.S33F	ZNF124_ENST00000491356.1_Missense_Mutation_p.S33F|ZNF124_ENST00000543802.2_Missense_Mutation_p.S33F|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000340684.6_Missense_Mutation_p.S33F	NM_001243740.1	NP_001230669.1	Q15973	ZN124_HUMAN	zinc finger protein 124	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S33F(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			ATTCTTCTGGGAAGGATCCAA	0.423000													31	72					0	0	0.012213	0	0
PDE3B	5140	broad.mit.edu	37	11	14825541	14825541	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:14825541G>A	ENST00000282096.4	+	5	1820	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	PDE3B_ENST00000455098.2_Silent_p.P438P	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	489					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	p.P489P(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGACTATCCCGAAGCAAAGGT	0.353000													14	20					0	0	0.020292	0	0
PPP4C	5531	broad.mit.edu	37	16	30092610	30092610	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:30092610G>A	ENST00000279387.7	+	3	297	c.129G>A	c.(127-129)caG>caA	p.Q43Q	PPP4C_ENST00000561610.1_Silent_p.Q43Q	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	43					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	p.Q43Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GCAACGTGCAGAGGGTGGACT	0.567000													7	110					0	0	0.001984	0	0
JAK2	3717	broad.mit.edu	37	9	5089767	5089767	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:5089767G>A	ENST00000381652.3	+	20	3159	c.2665G>A	c.(2665-2667)Gaa>Aaa	p.E889K	JAK2_ENST00000544510.1_Missense_Mutation_p.E740K|JAK2_ENST00000539801.1_Missense_Mutation_p.E889K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	889	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	p.E889K(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GCATAGTACTGAAGAGCACCT	0.448000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				21	12					0	0	0.014323	0	0
TFB1M	51106	broad.mit.edu	37	6	155579176	155579176	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:155579176T>C	ENST00000367166.4	-	7	890	c.835A>G	c.(835-837)Agg>Ggg	p.R279G		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	p.R279G(1)		lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TCTAACAGCCTGCCCGTGCTT	0.453000													29	94					0	0	0.007291	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247175	142247175	+	RNA	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:142247175G>C	ENST00000390361.3	-	0	330																											CTTCAGAGTAGAGACGGATCC	0.562000													24	41					0	0	0.016522	0	0
NRG3	10718	broad.mit.edu	37	10	84738833	84738833	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:84738833G>A	ENST00000372142.2	+	9	1151	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	NRG3_ENST00000556918.1_Missense_Mutation_p.E344K|NRG3_ENST00000372141.2_Missense_Mutation_p.E514K|NRG3_ENST00000404576.2_Missense_Mutation_p.E318K|NRG3_ENST00000537893.1_Missense_Mutation_p.E164K|NRG3_ENST00000404547.1_Missense_Mutation_p.E514K|NRG3_ENST00000545131.1_Missense_Mutation_p.E164K	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	514	EGF-like.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.E514K(2)|p.E293K(2)		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)		TCAGCAACTCGAAGAATCAAG	0.493000													4	33					0	0	0.009096	0	0
TSSC2	650368	broad.mit.edu	37	11	3430163	3430163	+	RNA	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:3430163G>A	ENST00000529482.1	+	0	2292																											AAGCTGAAATGATGGCAGTAG	0.542000													5	7					0	0	0.014758	0	0
RASSF9	9182	broad.mit.edu	37	12	86199359	86199359	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:86199359G>A	ENST00000361228.3	-	2	797	c.429C>T	c.(427-429)ctC>ctT	p.L143L		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	143					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	p.L143L(2)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGCTGGGCTGAGCTCCCACA	0.398000													88	135					0	0	0.014410	0	0
MALAT1	378938	broad.mit.edu	37	11	65272561	65272561	+	RNA	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:65272561C>T	ENST00000534336.1	+	0	7329					NR_002819.2																						GAATAGATTTCAGCTTTATGC	0.418000													21	42					0	0	0.012319	0	0
ZNF146	7705	broad.mit.edu	37	19	36728009	36728009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:36728009C>T	ENST00000456324.1	+	3	2116	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Nonsense_Mutation_p.Q223*	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	223	Interaction with TERF2IP.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	p.Q223*(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					AGCCTTCTCTCAGAGCTCATC	0.443000													47	75					0	0	0.011902	0	0
AKAP9	10142	broad.mit.edu	37	7	91630326	91630326	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:91630326G>C	ENST00000359028.2	+	9	1356	c.1131G>C	c.(1129-1131)caG>caC	p.Q377H	AKAP9_ENST00000356239.3_Missense_Mutation_p.Q365H|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q377H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	377	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.Q365H(1)|p.Q377H(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			tacaagaacagattgtgcaaa	0.279000			T	BRAF	papillary thyroid								3	14					0	0	0.004672	0	0
ZNF471	57573	broad.mit.edu	37	19	57027736	57027736	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:57027736G>A	ENST00000308031.5	+	3	259	c.126G>A	c.(124-126)atG>atA	p.M42I	ZNF471_ENST00000591537.1_Missense_Mutation_p.M42I|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M42I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACAGGAGTATGATGTTGGAGA	0.393000													21	96					0	0	0.012319	0	0
MORC3	23515	broad.mit.edu	37	21	37710178	37710178	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr21:37710178C>G	ENST00000400485.1	+	4	470	c.394C>G	c.(394-396)Cag>Gag	p.Q132E	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	132					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	p.Q132E(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCTTTTGTCTCAGACCTACTT	0.428000													41	87					0	0	0.013114	0	0
CCDC170	80129	broad.mit.edu	37	6	151914325	151914325	+	Missense_Mutation	SNP	C	C	A	rs113968720		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:151914325C>A	ENST00000367290.5	+	8	1466	c.1377C>A	c.(1375-1377)gaC>gaA	p.D459E	CCDC170_ENST00000239374.7_Missense_Mutation_p.D459E			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	459								p.D459E(1)									TGCGGCTGGACGTGGTTTTAG	0.453000													33	32					8.53417e-09	9.23528e-09	0.013726	1	0
LAMA5	3911	broad.mit.edu	37	20	60891982	60891982	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:60891982C>T	ENST00000252999.3	-	56	7675	c.7609G>A	c.(7609-7611)Gat>Aat	p.D2537N		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2537	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.D2537N(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGCAGCATCCTCGGCAGCC	0.697000													4	14					0	0	0.009096	0	0
MYO5B	4645	broad.mit.edu	37	18	47363122	47363122	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:47363122C>G	ENST00000285039.7	-	38	5571	c.5272G>C	c.(5272-5274)Gag>Cag	p.E1758Q	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.E873Q|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.E81Q|MYO5B_ENST00000592688.1_Missense_Mutation_p.E328Q	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1758	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.E1758Q(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAGATAGCCTCTGCGTCCTCC	0.532000													23	30					0	0	0.021523	0	0
OGDH	4967	broad.mit.edu	37	7	44739835	44739835	+	Silent	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:44739835A>G	ENST00000222673.5	+	19	2568	c.2526A>G	c.(2524-2526)ctA>ctG	p.L842L	OGDH_ENST00000444676.1_Silent_p.L857L|OGDH_ENST00000439616.2_Silent_p.L692L|OGDH_ENST00000449767.1_Silent_p.L838L|OGDH_ENST00000543843.1_Silent_p.L793L|OGDH_ENST00000447398.1_Silent_p.L853L	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	842					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.L842L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCCACGTGCTACGACGCCAGA	0.567000													33	39					0	0	0.012213	0	0
FGFR1	2260	broad.mit.edu	37	8	38271717	38271717	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:38271717C>T	ENST00000447712.2	-	16	3080	c.2139G>A	c.(2137-2139)ctG>ctA	p.L713L	FGFR1_ENST00000397103.1_Silent_p.L624L|FGFR1_ENST00000425967.3_Silent_p.L744L|FGFR1_ENST00000326324.6_Silent_p.L622L|FGFR1_ENST00000397108.4_Silent_p.L711L|FGFR1_ENST00000356207.5_Silent_p.L624L|FGFR1_ENST00000335922.5_Silent_p.L703L|FGFR1_ENST00000341462.5_Silent_p.L713L|FGFR1_ENST00000397113.2_Silent_p.L711L|FGFR1_ENST00000532791.1_Silent_p.L711L|FGFR1_ENST00000397091.5_Silent_p.L711L	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	713	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.L713L(2)|p.L703L(1)|p.?(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GACCCTCCTTCAGCAGCTTGA	0.607000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						22	28					0	0	0.010504	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68930646	68930646	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:68930646G>C	ENST00000356291.2	-	8	831	c.772C>G	c.(772-774)Caa>Gaa	p.Q258E	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	258	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.Q258E(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GCAATCCATTGAGTTGGGTCT	0.338000													17	28					0	0	0.028581	0	0
ACAN	176	broad.mit.edu	37	15	89379446	89379446	+	Silent	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:89379446T>A	ENST00000439576.2	+	2	383	c.9T>A	c.(7-9)acT>acA	p.T3T	ACAN_ENST00000559004.1_Silent_p.T3T|ACAN_ENST00000561243.1_Silent_p.T3T|ACAN_ENST00000352105.7_Silent_p.T3T|ACAN_ENST00000558207.1_Silent_p.T3T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	3					cell adhesion		hyaluronic acid binding|sugar binding	p.T3T(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTATGACCACTTTACTCTGGG	0.468000													4	14					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179584463	179584463	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:179584463G>C	ENST00000589042.1	-	82	23980	c.23756C>G	c.(23755-23757)tCa>tGa	p.S7919*	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.S7602*|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.S6675*|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7602	Ig-like 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6675*(1)		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)			CCACTTGGCTGAGAGTTCTGG	0.433000													29	45					0	0	0.027356	0	0
PLCD4	84812	broad.mit.edu	37	2	219483480	219483480	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:219483480G>T	ENST00000450993.2	+	4	699	c.360G>T	c.(358-360)caG>caT	p.Q120H	PLCD4_ENST00000417849.1_Missense_Mutation_p.Q120H|PLCD4_ENST00000432688.1_Missense_Mutation_p.Q120H	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	120	PH.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Q120H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGGGCTCCAGCTGTTGGTGG	0.602000													4	15					0.000602214	0.000625125	0.014758	1	0
DOCK4	9732	broad.mit.edu	37	7	111422961	111422961	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:111422961C>T	ENST00000428084.1	-	35	3816	c.3544G>A	c.(3544-3546)Gag>Aag	p.E1182K	DOCK4_ENST00000437633.1_Missense_Mutation_p.E1173K|DOCK4_ENST00000494651.2_Missense_Mutation_p.E56K			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1173	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.E1173K(1)|p.E1170K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCATCTACCTCTCCCATTTTC	0.388000													24	73					0	0	0.014323	0	0
AFF3	3899	broad.mit.edu	37	2	100210124	100210124	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:100210124C>G	ENST00000409236.2	-	13	2111	c.1999G>C	c.(1999-2001)Gag>Cag	p.E667Q	AFF3_ENST00000356421.2_Missense_Mutation_p.E692Q|AFF3_ENST00000409579.1_Missense_Mutation_p.E692Q|AFF3_ENST00000317233.4_Missense_Mutation_p.E667Q			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E692Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GACTCTGTCTCAATGAACTCC	0.622000													47	94					0	0	0.014410	0	0
MCF2L	23263	broad.mit.edu	37	13	113730363	113730363	+	Silent	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:113730363T>A	ENST00000397030.1	+	12	1528	c.1491T>A	c.(1489-1491)gcT>gcA	p.A497A	MCF2L_ENST00000421756.1_Silent_p.A468A|MCF2L_ENST00000375601.3_Silent_p.A468A|MCF2L_ENST00000375608.3_Silent_p.A494A|MCF2L_ENST00000375597.4_Silent_p.A462A|MCF2L_ENST00000434480.2_Silent_p.A470A|MCF2L_ENST00000375604.2_Silent_p.A521A|MCF2L_ENST00000423482.2_Silent_p.A462A|MCF2L_ENST00000535094.2_Silent_p.A464A|MCF2L_ENST00000442652.2_Silent_p.A494A			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	494					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.A521A(1)|p.A468A(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GCGCGGAGGCTGCCCTCCAGG	0.522000													12	15					0	0	0.010729	0	0
GJA9	81025	broad.mit.edu	37	1	39341511	39341511	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:39341511G>A	ENST00000454994.2	-	2	536	c.260C>T	c.(259-261)tCa>tTa	p.S87L	MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000360786.3_Missense_Mutation_p.S87L|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.S87L|RP5-864K19.4_ENST00000456813.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	87					cell communication	connexon complex|integral to membrane		p.S87L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CAGGGATGGTGAAGACACAAA	0.473000													45	114					0	0	0.014410	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855427	79855427	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:79855427G>A	ENST00000338682.3	-	5	1084	c.412C>T	c.(412-414)Ctt>Ttt	p.L138F		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	138						cytoplasm|nucleus		p.L138F(1)|p.L138I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CAAGCACTAAGAAGAACTTTC	0.428000													16	174					0	0	0.024245	0	0
NUMA1	4926	broad.mit.edu	37	11	71728852	71728852	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:71728852G>A	ENST00000393695.3	-	13	1331	c.1000C>T	c.(1000-1002)Ctg>Ttg	p.L334L	NUMA1_ENST00000358965.6_Silent_p.L334L|NUMA1_ENST00000351960.6_Silent_p.L334L|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	334					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.L334L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGCTGCTGCAGATGACTGGCA	0.602000			T	RARA	APL								16	28					0	0	0.028581	0	0
C1RL	51279	broad.mit.edu	37	12	7249214	7249214	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:7249214C>T	ENST00000266542.4	-	6	1329	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	413	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	p.E413K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAAAACACCTCGGGTCTCTGT	0.552000													63	130					0	0	0.014410	0	0
SLMAP	7871	broad.mit.edu	37	3	57827095	57827095	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:57827095C>G	ENST00000383718.3	+	3	514	c.416C>G	c.(415-417)tCa>tGa	p.S139*	SLMAP_ENST00000449503.2_Nonsense_Mutation_p.S139*|SLMAP_ENST00000295951.3_Nonsense_Mutation_p.S139*|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Nonsense_Mutation_p.S139*|SLMAP_ENST00000428312.1_Nonsense_Mutation_p.S139*			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	139	Necessary for targeting to centrosomes (By similarity).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	p.S139*(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CGGCTCCGCTCAGAGTGAGTA	0.358000													6	35					0	0	0.003080	0	0
HEG1	57493	broad.mit.edu	37	3	124738228	124738228	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:124738228G>C	ENST00000311127.4	-	5	1533	c.1466C>G	c.(1465-1467)tCa>tGa	p.S489*	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	489	Ser-rich.					extracellular region|integral to membrane	calcium ion binding	p.S489L(1)|p.S489*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AGTAGAGTCTGAGAACTGGGT	0.463000													39	164					0	0	0.021022	0	0
NECAB2	54550	broad.mit.edu	37	16	84028251	84028251	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:84028251G>C	ENST00000565691.1	+	6	1226	c.504G>C	c.(502-504)caG>caC	p.Q168H	NECAB2_ENST00000305202.4_Missense_Mutation_p.Q251H|NECAB2_ENST00000567703.1_3'UTR			Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	251					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	p.Q251H(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						TGGAAGCCCAGATCAGCCGCT	0.602000													5	31					0	0	0.021553	0	0
GABRR2	2570	broad.mit.edu	37	6	89974215	89974215	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:89974215G>A	ENST00000402938.3	-	8	1135	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	GABRR2_ENST00000602399.1_Silent_p.F359F	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	359					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.F334F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		AGAGGAACACGAACACAAAGC	0.592000													23	29					0	0	0.012319	0	0
GRAP	10750	broad.mit.edu	37	17	18927599	18927599	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:18927599C>T	ENST00000284154.5	-	4	1107	c.397G>A	c.(397-399)Gac>Aac	p.D133N	GRAP_ENST00000395635.1_Missense_Mutation_p.D104N|GRAP_ENST00000573099.1_Intron	NM_006613.3	NP_006604.1	Q13588	GRAP_HUMAN	GRB2-related adaptor protein	133	SH2.				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity	p.D133N(1)		large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					CGGTAGAAGTCGACCAGCTCG	0.617000													5	3					0	0	0.014758	0	0
ATP2A1	487	broad.mit.edu	37	16	28893844	28893844	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:28893844G>A	ENST00000395503.4	+	5	581	c.397G>A	c.(397-399)Gac>Aac	p.D133N	ATP2A1_ENST00000536376.1_Missense_Mutation_p.D8N|ATP2A1_ENST00000357084.3_Missense_Mutation_p.D133N	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	133					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.D133N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTACCGGGCTGACCGCAAGTC	0.627000													14	44					0	0	0.020292	0	0
NLRP9	338321	broad.mit.edu	37	19	56223188	56223188	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:56223188C>T	ENST00000332836.2	-	8	2848	c.2821G>A	c.(2821-2823)Gac>Aac	p.D941N		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	941						cytoplasm	ATP binding	p.D941N(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGGGCACAGTCCGGGTGGCTC	0.552000													5	25					0	0	0.014758	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160273906	160273906	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:160273906G>A	ENST00000264431.4	+	21	3871	c.3452G>A	c.(3451-3453)cGa>cAa	p.R1151Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1151	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.R1139Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATTTCTTCACGATCCAGTATT	0.433000													24	50					0	0	0.024334	0	0
CARF	79800	broad.mit.edu	37	2	203806617	203806617	+	Translation_Start_Site	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:203806617G>A	ENST00000402905.3	+	0	313				CARF_ENST00000545253.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000456821.2_Intron|CARF_ENST00000428585.1_De_novo_Start_OutOfFrame|CARF_ENST00000545262.1_De_novo_Start_OutOfFrame|CARF_ENST00000414439.1_Intron|CARF_ENST00000434998.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000438828.2_De_novo_Start_OutOfFrame|CARF_ENST00000320443.8_De_novo_Start_OutOfFrame|CARF_ENST00000444724.1_De_novo_Start_OutOfFrame	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		AATTGAATATGATGTCAGCAT	0.318000													18	41					0	0	0.006122	0	0
SPINK9	643394	broad.mit.edu	37	5	147715197	147715197	+	Silent	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:147715197C>G	ENST00000377906.1	+	1	76	c.21C>G	c.(19-21)gtC>gtG	p.V7V	RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Intron	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	7						extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.V7V(1)		ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCCATAGTCCTACTCTTGG	0.483000													22	47					0	0	0.014323	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596451	48596451	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:48596451G>A	ENST00000310248.2	-	1	719	c.625C>T	c.(625-627)Ctc>Ttc	p.L209F		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L209F(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						ATGGGGCTGAGAATTACCACG	0.537000													14	28					0	0	0.016723	0	0
ASTN1	460	broad.mit.edu	37	1	176903364	176903364	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:176903364C>T	ENST00000367654.3	-	16	2830	c.2619G>A	c.(2617-2619)gaG>gaA	p.E873E	ASTN1_ENST00000361833.2_Silent_p.E865E|ASTN1_ENST00000367657.3_Silent_p.E865E|ASTN1_ENST00000424564.2_Silent_p.E865E	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane		p.E865E(1)|p.E865>?(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AACAGGACTCCTCAAAGCCGT	0.522000													9	62					0	0	0.004482	0	0
PXDN	7837	broad.mit.edu	37	2	1653407	1653407	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:1653407G>T	ENST00000252804.4	-	17	2195	c.2145C>A	c.(2143-2145)aaC>aaA	p.N715K		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	715					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.N715K(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTGCGATGAGGTTCAGGTACT	0.592000													37	43					7.83172e-31	8.79917e-31	0.019004	1	0
SIMC1	375484	broad.mit.edu	37	5	175717801	175717801	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:175717801C>T	ENST00000443967.1	+	4	1624	c.1217C>T	c.(1216-1218)tCa>tTa	p.S406L	SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.S425L					SUMO-interacting motifs containing 1									p.S406L(1)									ATATCACTGTCAGAGCCTGCC	0.502000													4	81					0	0	0.013537	0	0
LIG4	3981	broad.mit.edu	37	13	108861189	108861189	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:108861189G>C	ENST00000356922.4	-	2	2700	c.2428C>G	c.(2428-2430)Ctc>Gtc	p.L810V	LIG4_ENST00000442234.1_Missense_Mutation_p.L810V|LIG4_ENST00000405925.1_Missense_Mutation_p.L810V	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	810	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.L810V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AACATACTGAGAGGAGAGCAA	0.403000								Non-homologous end-joining					21	43					0	0	0.008871	0	0
COPG1	22820	broad.mit.edu	37	3	128982840	128982840	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:128982840G>C	ENST00000314797.6	+	13	1326	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	408					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.E408Q(1)									GCTGCGGGAAGAGGTAAGAGT	0.547000													10	18					0	0	0.008291	0	0
EIF4G3	8672	broad.mit.edu	37	1	21226289	21226289	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:21226289G>A	ENST00000602326.1	-	14	2333	c.1750C>T	c.(1750-1752)Cgt>Tgt	p.R584C	EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000544689.1_Missense_Mutation_p.R121C|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R182C|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R298C|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R578C|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R584C|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R578C|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R31C	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	578					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.R578C(1)|p.R584C(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GCACCATTACGTACTGGCTCA	0.438000													15	271					0	0	0.020292	0	0
NISCH	11188	broad.mit.edu	37	3	52526262	52526262	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:52526262C>T	ENST00000345716.4	+	21	4413	c.4279C>T	c.(4279-4281)Ccg>Tcg	p.P1427S	NISCH_ENST00000479054.1_Missense_Mutation_p.P1427S	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1427					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	p.P1427S(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCAGACCTACCCGCAGGCCCT	0.652000													67	65					0	0	0.014410	0	0
CREBBP	1387	broad.mit.edu	37	16	3820952	3820952	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:3820952G>C	ENST00000262367.5	-	14	3308	c.2499C>G	c.(2497-2499)ctC>ctG	p.L833L	CREBBP_ENST00000382070.3_Silent_p.L795L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	833					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.L833L(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCAGCATGTTGAGAGGGTTAG	0.542000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						58	27					0	0	0.014410	0	0
AMACR	23600	broad.mit.edu	37	5	34008107	34008107	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:34008107G>C	ENST00000335606.6	-	1	106	c.18C>G	c.(16-18)atC>atG	p.I6M	AMACR_ENST00000382085.3_Missense_Mutation_p.I6M|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000426255.2_Missense_Mutation_p.I6M|AMACR_ENST00000512079.1_Missense_Mutation_p.I6M|AMACR_ENST00000382068.3_Missense_Mutation_p.I6M|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.I6M|AMACR_ENST00000441713.2_Missense_Mutation_p.I6M|AMACR_ENST00000382072.2_Missense_Mutation_p.I6M	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	6					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	p.I6M(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CCACGACCGAGATGCCCTGCA	0.692000													3	12					0	0	0.021553	0	0
MYO7A	4647	broad.mit.edu	37	11	76873170	76873170	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:76873170G>C	ENST00000409709.3	+	13	1620	c.1348G>C	c.(1348-1350)Gag>Cag	p.E450Q	MYO7A_ENST00000458637.2_Missense_Mutation_p.E450Q|MYO7A_ENST00000409893.1_Missense_Mutation_p.E450Q|MYO7A_ENST00000409619.2_Missense_Mutation_p.E439Q	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	450	Myosin head-like.		E -> Q (in USH1B).		actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.E450Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGCAGCTTTGAGCAGCTCTG	0.572000													3	5					0	0	0.004672	0	0
SORCS1	114815	broad.mit.edu	37	10	108338932	108338932	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:108338932G>A	ENST00000344440.6	-	26	3448	c.3449C>T	c.(3448-3450)tCt>tTt	p.S1150F	SORCS1_ENST00000263054.6_Intron|SORCS1_ENST00000369698.1_Missense_Mutation_p.S685F	NM_001013031.2|NM_001206569.1|NM_001206571.1|NM_001206572.1	NP_001013049.1|NP_001193498.1|NP_001193500.1|NP_001193501.1	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	0						integral to membrane	neuropeptide receptor activity|protein binding	p.S1150F(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTGCTTTCAGAGTGACTGAC	0.443000													35	41					0	0	0.015359	0	0
KIAA0226	9711	broad.mit.edu	37	3	197408132	197408132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:197408132C>T	ENST00000273582.5	-	17	2708	c.2163G>A	c.(2161-2163)tgG>tgA	p.W721*	KIAA0226_ENST00000389665.5_Nonsense_Mutation_p.W791*|KIAA0226_ENST00000296343.5_Nonsense_Mutation_p.W766*	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	766					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	p.W721*(1)|p.W766*(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGCTGAAGTCCCACTTGCGCA	0.537000													5	134					0	0	0.021553	0	0
RPL3	6122	broad.mit.edu	37	22	39708981	39708981	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:39708981C>T	ENST00000216146.4	-	10	1349	c.1176G>A	c.(1174-1176)ctG>ctA	p.L392L	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Silent_p.L340L	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	392					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.L392L(1)		breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					GGTCTTTCTTCAGTGGTCCCT	0.498000													8	27					0	0	0.003080	0	0
LRRC7	57554	broad.mit.edu	37	1	70488897	70488897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:70488897G>A	ENST00000310961.5	+	18	1953	c.1535G>A	c.(1534-1536)tGg>tAg	p.W512*	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.W507*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	507						centrosome|focal adhesion|nucleolus	protein binding	p.W507*(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGCACACCATGGGCCAGGTGT	0.587000													20	34					0	0	0.012319	0	0
ULBP3	79465	broad.mit.edu	37	6	150387242	150387242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:150387242G>A	ENST00000367339.2	-	2	173	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	ULBP3_ENST00000438272.2_Nonsense_Mutation_p.Q49*			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3		MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	p.Q49*(1)		central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TCACACCACTGTTGCCCATGT	0.473000													34	63					0	0	0.019004	0	0
MALAT1	378938	broad.mit.edu	37	11	65271718	65271718	+	RNA	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:65271718C>G	ENST00000534336.1	+	0	6486					NR_002819.2																						TCAGCATACTCAAAATTTTTT	0.408000													7	16					0	0	0.003080	0	0
PIGP	51227	broad.mit.edu	37	21	38444858	38444858	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr21:38444858C>T	ENST00000464265.1	-	1	253	c.30G>A	c.(28-30)ctG>ctA	p.L10L	PIGP_ENST00000399103.1_Intron|PIGP_ENST00000399102.1_Intron|PIGP_ENST00000360525.4_Intron|PIGP_ENST00000399098.1_Intron	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P	10					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	p.L10L(1)		kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				GGAACACAATCAGCGCCAGCG	0.577000													34	133					0	0	0.007835	0	0
PRR16	51334	broad.mit.edu	37	5	120021694	120021694	+	Translation_Start_Site	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:120021694G>A	ENST00000505123.1	+	0	367				PRR16_ENST00000379551.2_Missense_Mutation_p.D46N|PRR16_ENST00000407149.2_Missense_Mutation_p.D69N|PRR16_ENST00000446965.1_De_novo_Start_OutOfFrame			Q569H4	PRR16_HUMAN	proline rich 16									p.D46N(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACAGCTGGAGGATGAGATGAC	0.473000													10	46					0	0	0.006214	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958523	57958523	+	Silent	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:57958523C>G	ENST00000311591.3	+	1	618	c.561C>G	c.(559-561)ctC>ctG	p.L187L		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L187L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TATTAAAACTCTCCTGTGGGG	0.448000													12	31					0	0	0.013537	0	0
DNAJC3	5611	broad.mit.edu	37	13	96361561	96361561	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:96361561G>A	ENST00000602402.1	+	2	280	c.163G>A	c.(163-165)Gat>Aat	p.D55N	DNAJC3_ENST00000376795.6_Missense_Mutation_p.D55N	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	55					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	p.D55N(1)		NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ACAGCTAGCTGATGCTTTATC	0.358000													10	47					0	0	0.008291	0	0
ZFP57	346171	broad.mit.edu	37	6	29641454	29641454	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:29641454C>A	ENST00000376883.1	-	6	785	c.374G>T	c.(373-375)tGc>tTc	p.C125F	ZFP57_ENST00000488757.1_Missense_Mutation_p.C145F|ZFP57_ENST00000376881.3_Missense_Mutation_p.C125F			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	78					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.C125F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GGCCCCTCTGCATGCAAGGAA	0.552000													47	80					1.56793e-16	1.75131e-16	0.014410	1	0
IRX3	79191	broad.mit.edu	37	16	54319259	54319259	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:54319259G>A	ENST00000329734.3	-	2	1246	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	178					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F178F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GCGCGTTGGCGAACCAGGTGG	0.622000													24	52					0	0	0.006320	0	0
ECM2	1842	broad.mit.edu	37	9	95274343	95274343	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:95274343G>A	ENST00000344604.5	-	5	1269	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	ECM2_ENST00000444490.2_Silent_p.L352L|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	374					cell-matrix adhesion		integrin binding	p.L374L(1)|p.L352L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTTTTACTCAGATCAAGCCTT	0.393000													35	15					0	0	0.025465	0	0
GRIN1	2902	broad.mit.edu	37	9	140058079	140058079	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:140058079G>C	ENST00000371561.3	+	17	3499	c.2402G>C	c.(2401-2403)cGc>cCc	p.R801P	GRIN1_ENST00000371555.4_Missense_Mutation_p.R822P|GRIN1_ENST00000371560.3_Missense_Mutation_p.R822P|GRIN1_ENST00000350902.5_Missense_Mutation_p.R801P|GRIN1_ENST00000371553.3_Missense_Mutation_p.R822P|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Missense_Mutation_p.R822P|GRIN1_ENST00000371550.4_Missense_Mutation_p.R801P|GRIN1_ENST00000315048.3_Missense_Mutation_p.R801P|GRIN1_ENST00000371559.4_Missense_Mutation_p.R801P	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	801					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	p.R801P(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TGTGACTCGCGCAGCAACGCC	0.602000													14	8					0	0	0.024245	0	0
FAM13C	220965	broad.mit.edu	37	10	61022288	61022288	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:61022288G>A	ENST00000373867.3	-	11	1358	c.893C>T	c.(892-894)cCg>cTg	p.P298L	FAM13C_ENST00000468840.2_Missense_Mutation_p.P298L|FAM13C_ENST00000373868.2_Missense_Mutation_p.P381L|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000442566.3_Missense_Mutation_p.P402L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P402L|FAM13C_ENST00000422313.2_Missense_Mutation_p.P381L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P381L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	381								p.P381L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTTGGCTCCGGGCCCGCAGC	0.542000													8	68					0	0	0.003080	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111741687	111741687	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:111741687G>C	ENST00000374595.4	-	7	1054	c.975C>G	c.(973-975)atC>atG	p.I325M	CTNNAL1_ENST00000325551.4_Missense_Mutation_p.I325M|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I325M			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	325					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	p.I325M(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TACGCTCCAAGATGACTTCCA	0.443000													25	20					0	0	0.027356	0	0
HIST1H2BL	8340	broad.mit.edu	37	6	27775562	27775562	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:27775562G>C	ENST00000377401.2	-	1	147	c.123C>G	c.(121-123)taC>taG	p.Y41*		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	41					nucleosome assembly	nucleosome|nucleus	DNA binding	p.Y41*(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CCTTGTACACGTACACGGAGT	0.587000													61	130					0	0	0.014410	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197217	32197217	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:32197217C>A	ENST00000375250.5	-	3	808	c.567G>T	c.(565-567)gaG>gaT	p.E189D	ARHGAP12_ENST00000311380.4_Missense_Mutation_p.E189D|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.E189D|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.E189D|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.E189D	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	189					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E189D(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGCTAGTTTTCTCTACATCCA	0.433000													31	63					1.61788e-16	1.80184e-16	0.012213	1	0
PTH1R	5745	broad.mit.edu	37	3	46939420	46939420	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:46939420C>T	ENST00000449590.1	+	6	592	c.389C>T	c.(388-390)cCc>cTc	p.P130L	PTH1R_ENST00000430002.2_Missense_Mutation_p.P130L|PTH1R_ENST00000313049.5_Missense_Mutation_p.P130L|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000418619.1_Missense_Mutation_p.P130L	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	130						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	p.P130L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GTGGCTGTGCCCTGTCCGGAC	0.607000													20	15					0	0	0.007413	0	0
SYT12	91683	broad.mit.edu	37	11	66816082	66816082	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:66816082G>A	ENST00000393946.2	+	11	2282	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	SYT12_ENST00000527043.1_Missense_Mutation_p.E374K|SYT12_ENST00000525457.1_Missense_Mutation_p.E374K			Q8IV01	SYT12_HUMAN	synaptotagmin XII	374	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane		p.E374K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GACGGTGGCTGAGAGCAGCAG	0.607000													18	40					0	0	0.010504	0	0
GABRB1	2560	broad.mit.edu	37	4	47322172	47322172	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:47322172G>C	ENST00000295454.3	+	5	782	c.490G>C	c.(490-492)Gat>Cat	p.D164H	GABRB1_ENST00000538619.1_Missense_Mutation_p.D94H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	164					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.D164H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGTATGATGGATCTTCGAAG	0.423000													15	43					0	0	0.028581	0	0
PSG2	5670	broad.mit.edu	37	19	43575862	43575862	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:43575862G>C	ENST00000406487.1	-	4	1052	c.954C>G	c.(952-954)gtC>gtG	p.V318V		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	318					cell migration|female pregnancy	extracellular region		p.V318V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CAGAGACTTTGACTGTCAACG	0.458000													93	152					0	0	0.014410	0	0
VWA3B	200403	broad.mit.edu	37	2	98846623	98846623	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:98846623G>C	ENST00000477737.1	+	16	2465	c.2261G>C	c.(2260-2262)tGg>tCg	p.W754S		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	754								p.W754S(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGGGACCATGGGGCCTTTCA	0.413000													23	36					0	0	0.018920	0	0
TXNIP	10628	broad.mit.edu	37	1	145441053	145441054	+	Splice_Site	INS	-	-	GT			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:145441053_145441054insGT	ENST00000369317.4	+	7	1474	c.1140_1140insGT	c.(1141-1143)gtg>gtGTg	p.V381fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	381					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTATACTGAGGTGAGGATTGT	0.416													12	238	---	---	---	---					
ARHGAP30	257106	broad.mit.edu	37	1	161021110	161021121	+	In_Frame_Del	DEL	GGCCAGGGCCAA	GGCCAGGGCCAA	-			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:161021110_161021121delGGCCAGGGCCAA	ENST00000368013.3	-	10	1723_1734	c.1403_1414delTTGGCCCTGGCC	c.(1402-1416)cttggccctggcccc>ccc	p.LGPG468del	ARHGAP30_ENST00000368015.1_In_Frame_Del_p.LGPG291del|ARHGAP30_ENST00000368016.3_In_Frame_Del_p.LGPG468del	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	468					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCACCTGGGgggccagggccaaggccagggcc	0.618													7	64	---	---	---	---					
TOPBP1	11073	broad.mit.edu	37	3	133341981	133341982	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:133341981_133341982delTT	ENST00000260810.5	-	19	3262_3263	c.3131_3132delAA	c.(3130-3132)aaafs	p.K1044fs		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1044					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GTGCTGACTCTTTATTATTGGT	0.287								Other conserved DNA damage response genes					13	23	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	50	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													8	5	---	---	---	---					
ESRRAP2	144832	broad.mit.edu	37	13	21835723	21835728	+	RNA	DEL	GGCGAG	GGCGAG	-			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:21835723_21835728delGGCGAG	ENST00000427890.1	+	0	61																											GATGGACTGAGGCGAGGGGTGGGACT	0.646													2	4	---	---	---	---					
IGLV3-12	28802	broad.mit.edu	37	22	23114749	23114749	+	RNA	DEL	T	T	-	rs74864698		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:23114749delT	ENST00000390313.2	+	0	55																											CATCCTCTCCTTTTTTTTTTT	0.498													4	8	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44820575	44820575	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:44820575delT	ENST00000377967.4	+	3	313	c.272delT	c.(271-273)gtgfs	p.V91fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.V91fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.V91fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.V91fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	91					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(14)|p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAGGAAAAGTGGAGTCTGAT	0.289			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								21	12	---	---	---	---