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
RPGR	6103	broad.mit.edu	37	X	38169932	38169932	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:38169932C>A	ENST00000378505.2	-	7	890	c.714G>T	c.(712-714)gtG>gtT	p.V238V	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Silent_p.V238V|RPGR_ENST00000309513.3_Silent_p.V238V|RPGR_ENST00000338898.3_Silent_p.V238V|RPGR_ENST00000339363.3_Silent_p.V238V|RPGR_ENST00000318842.7_Silent_p.V238V	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	238					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.V238V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GAATTTCAGACACCAGCTGGG	0.507000													8	71					0.00307968	0.00365162	0.038147	1	0
MRPL35	51318	broad.mit.edu	37	2	86433312	86433312	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:86433312A>C	ENST00000337109.4	+	2	161	c.127A>C	c.(127-129)Act>Cct	p.T43P	MRPL35_ENST00000605125.1_Missense_Mutation_p.T43P|MRPL35_ENST00000254644.8_Missense_Mutation_p.T43P|MRPL35_ENST00000409180.1_Missense_Mutation_p.T43P	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	43					translation	mitochondrial ribosome	structural constituent of ribosome	p.T43P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						TGCATTGTCCACTGGACGTTT	0.458000													24	259					0	0	0.125774	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95616384	95616384	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:95616384G>T	ENST00000324972.6	+	9	1004	c.811G>T	c.(811-813)Gcc>Tcc	p.A271S	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.A254S|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.A234S|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.A234S|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.A251S|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.A254S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	271					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.A271S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCAGGCTGGAGCCAATCTTTC	0.433000													25	560					1.77063e-15	3.92948e-15	0.108266	1	0
GSTM5	2949	broad.mit.edu	37	1	110256125	110256125	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:110256125G>T	ENST00000369813.1	+	2	979	c.74G>T	c.(73-75)gGg>gTg	p.G25V	GSTM5_ENST00000256593.3_Missense_Mutation_p.G66V|GSTM5_ENST00000369812.5_Missense_Mutation_p.G85V			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	66	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	p.G66V(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TTGATTGATGGGGCTCACAAG	0.587000													7	166					0.00307968	0.00365162	0.038147	1	0
EXO1	9156	broad.mit.edu	37	1	242042514	242042514	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:242042514A>T	ENST00000366548.3	+	13	2571	c.1978A>T	c.(1978-1980)Agt>Tgt	p.S660C	EXO1_ENST00000518483.1_Missense_Mutation_p.S660C|EXO1_ENST00000348581.5_Missense_Mutation_p.S660C	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	660	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	p.S660C(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CGAGGAGTCCAGTGACGATGA	0.473000								Editing and processing nucleases					4	80					0	0	0.150653	0	0
PEAR1	375033	broad.mit.edu	37	1	156883518	156883518	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:156883518C>A	ENST00000338302.3	+	22	2904	c.2679C>A	c.(2677-2679)agC>agA	p.S893R	PEAR1_ENST00000292357.7_Missense_Mutation_p.S893R			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	893	Pro-rich.					integral to membrane		p.S893R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACAGCTATAGCTACAGCAATG	0.602000													9	49					4.3838e-07	7.45605e-07	0.105934	1	0
ABLIM1	3983	broad.mit.edu	37	10	116203832	116203832	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:116203832C>A	ENST00000533213.2	-	17	2010	c.1709G>T	c.(1708-1710)aGg>aTg	p.R570M	ABLIM1_ENST00000392952.3_Missense_Mutation_p.R307M|ABLIM1_ENST00000277895.5_Missense_Mutation_p.R630M|ABLIM1_ENST00000369266.3_Missense_Mutation_p.R307M|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R570M|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R253M			O14639	ABLM1_HUMAN	actin binding LIM protein 1	630					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	p.R570M(1)|p.R630M(1)|p.R307M(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CAGAGATGACCTTTCCCGGCT	0.453000													11	214					1.08611e-07	1.88592e-07	0.080935	1	0
RANBP2	5903	broad.mit.edu	37	2	109371430	109371430	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:109371430G>A	ENST00000283195.6	+	16	2398	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	758					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.E758K(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGACTATAGTGAAGGAGGTCC	0.378000													23	375					0	0	0.116897	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298618	125298618	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:125298618C>A	ENST00000538699.1	-	2	1370	c.1290G>T	c.(1288-1290)gcG>gcT	p.A430A	DCAF12L2_ENST00000360028.2_Silent_p.A430A	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430								p.A430A(3)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGGTGTAGAGCGCATTGGGGA	0.597000													21	197					1.96292e-10	3.86072e-10	0.055883	1	0
BCLAF1	9774	broad.mit.edu	37	6	136597201	136597201	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr6:136597201T>A	ENST00000531224.1	-	5	1714	c.1462A>T	c.(1462-1464)Ata>Tta	p.I488L	BCLAF1_ENST00000392348.2_Missense_Mutation_p.I486L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.I486L|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Missense_Mutation_p.I486L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.I488L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	488					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.I488L(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTACTGTTATTCTTTCAGAA	0.363000													18	355					0	0	0.043863	0	0
TKTL1	8277	broad.mit.edu	37	X	153551614	153551614	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:153551614G>T	ENST00000369915.3	+	9	1437	c.1248G>T	c.(1246-1248)aaG>aaT	p.K416N	TKTL1_ENST00000217905.7_Missense_Mutation_p.K156N|TKTL1_ENST00000369912.2_Missense_Mutation_p.K360N	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	416					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	p.K416N(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					CCATTCCCAAGTGCACGATCT	0.522000													12	185					4.3838e-07	7.45605e-07	0.105934	1	0
MPZL1	9019	broad.mit.edu	37	1	167745338	167745338	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:167745338G>T	ENST00000359523.2	+	5	845	c.643G>T	c.(643-645)Gct>Tct	p.A215S	MPZL1_ENST00000474859.1_Intron|MPZL1_ENST00000403379.3_3'UTR|MPZL1_ENST00000392121.3_Intron	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	215					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	p.A215S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					AGTTAAGCAGGCTCCTCGGAA	0.423000													5	59					3.59834e-05	5.23968e-05	0.021553	1	0
NXF3	56000	broad.mit.edu	37	X	102338133	102338133	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:102338133C>A	ENST00000395065.3	-	6	710	c.609G>T	c.(607-609)gtG>gtT	p.V203V	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Silent_p.V114V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	203						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.V203V(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTATCTGCTCCACCTTTTCTG	0.498000													14	172					4.7546e-09	8.7696e-09	0.146539	1	0
CD1B	910	broad.mit.edu	37	1	158299700	158299700	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:158299700G>T	ENST00000368168.3	-	3	656	c.549C>A	c.(547-549)acC>acA	p.T183T		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	183					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.T183T(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATCGGGGGCAGGTTTCATAGA	0.473000													11	236					6.40141e-05	9.0979e-05	0.080935	1	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864089	31864089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr21:31864089C>A	ENST00000334063.4	-	1	186	c.187G>T	c.(187-189)Gga>Tga	p.G63*		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	63						intermediate filament		p.G63*(1)		large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CAGCCATATCCGTAGCCTCCG	0.502000													6	122					0.000978159	0.00121538	0.080935	1	0
CLRN1	7401	broad.mit.edu	37	3	150690263	150690263	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr3:150690263G>C	ENST00000327047.1	-	1	523	c.233C>G	c.(232-234)gCa>gGa	p.A78G	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.A78G|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	78					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		p.A78G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AAAGGGCCTTGCTCCCAACCC	0.478000													5	92					0	0	0.021553	0	0
COL15A1	1306	broad.mit.edu	37	9	101797630	101797630	+	Splice_Site	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr9:101797630A>T	ENST00000375001.3	+	19	2643		c.e19-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTCCTTCCCCAGGATACCGAA	0.527000													11	114					0	0	0.119110	0	0
DPP10	57628	broad.mit.edu	37	2	116525883	116525883	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:116525883C>A	ENST00000410059.1	+	13	1604	c.1124C>A	c.(1123-1125)cCc>cAc	p.P375H	DPP10_ENST00000409163.1_Missense_Mutation_p.P325H|DPP10_ENST00000310323.8_Missense_Mutation_p.P368H|DPP10_ENST00000393147.2_Missense_Mutation_p.P379H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	375					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.P375H(1)|p.P368H(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATGAGGAGCCCGTGTTTTCT	0.448000													10	74					0.000673444	0.000841805	0.069234	1	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020847	33020847	+	RNA	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr16:33020847C>A	ENST00000565407.2	+	0	255				RP11-19N8.2_ENST00000567619.1_RNA														p.G85G(1)									CTGTGAAGGGCCGATTCACCA	0.512000													34	305					6.90743e-12	1.40519e-11	0.064281	1	0
LMTK2	22853	broad.mit.edu	37	7	97822649	97822649	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:97822649G>T	ENST00000297293.5	+	11	3165	c.2872G>T	c.(2872-2874)Gca>Tca	p.A958S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	958					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A958S(2)|p.A958T(1)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTCTAAAGACGCAGCAAAAGA	0.502000													7	95					7.48243e-07	1.26228e-06	0.058154	1	0
PCDHA11	56138	broad.mit.edu	37	5	140249814	140249814	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:140249814C>A	ENST00000398640.2	+	1	1126	c.1126C>A	c.(1126-1128)Cgt>Agt	p.R376S	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1												p.R376S(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTCTGACCGTGACTCAGG	0.572000													12	94					7.93312e-07	1.32752e-06	0.119110	1	0
SGPL1	8879	broad.mit.edu	37	10	72614534	72614534	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:72614534G>C	ENST00000373202.3	+	5	531	c.331G>C	c.(331-333)Gag>Cag	p.E111Q		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	111					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	p.E111Q(1)		large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	AGTGGACAAAGAGTATGTGAA	0.408000													21	306					0	0	0.069288	0	0
LRP1B	53353	broad.mit.edu	37	2	141135856	141135856	+	Splice_Site	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:141135856C>G	ENST00000389484.3	-	68	11503		c.e68-1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.?(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCTGTGGCTCTGGGGATAAA	0.368000										TSP Lung(27;0.18)			6	38					0	0	0.021553	0	0
RAI14	26064	broad.mit.edu	37	5	34823639	34823639	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:34823639G>T	ENST00000265109.3	+	15	1979	c.1692G>T	c.(1690-1692)gaG>gaT	p.E564D	RAI14_ENST00000512629.1_Missense_Mutation_p.E535D|RAI14_ENST00000503673.1_Missense_Mutation_p.E564D|RAI14_ENST00000428746.2_Missense_Mutation_p.E564D|RAI14_ENST00000397449.1_Missense_Mutation_p.E557D|RAI14_ENST00000515799.1_Missense_Mutation_p.E567D|RAI14_ENST00000506376.1_Missense_Mutation_p.E556D	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	564						cell cortex|cytoskeleton	protein binding	p.E564D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					tagagagggagaaagGTACAG	0.358000													8	101					1.26484e-09	2.40785e-09	0.038147	1	0
RAD51AP1	10635	broad.mit.edu	37	12	4662313	4662313	+	Splice_Site	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr12:4662313G>T	ENST00000228843.9	+	8	822	c.772_splice	c.e8+1	p.V258_splice	RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000321524.7_Splice_Site_p.A258_splice|RAD51AP1_ENST00000543041.1_Splice_Site_p.V123_splice|RAD51AP1_ENST00000352618.4_Splice_Site_p.V241_splice	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	258					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	p.V241L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TAATGCTTTGGGTAAGCTTGG	0.294000													9	70					2.52707e-12	5.24367e-12	0.058154	1	0
RYR2	6262	broad.mit.edu	37	1	237947042	237947042	+	Silent	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:237947042G>C	ENST00000366574.2	+	90	12347	c.12030G>C	c.(12028-12030)gtG>gtC	p.V4010V	RYR2_ENST00000360064.6_Silent_p.V4016V|RYR2_ENST00000542537.1_Silent_p.V3994V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4010					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.V4008V(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)			CCAACAACGTGGAGATGATTC	0.368000													3	39					0	0	0.115264	0	0
TRPM1	4308	broad.mit.edu	37	15	31294304	31294304	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr15:31294304G>T	ENST00000542188.1	-	27	4963	c.4650C>A	c.(4648-4650)gtC>gtA	p.V1550V	TRPM1_ENST00000397795.2_Silent_p.V1511V|TRPM1_ENST00000256552.6_Silent_p.V1533V|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1511					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.V1511V(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTGCTTCAGCGACATGGTGTT	0.458000													29	412					1.74807e-11	3.5216e-11	0.153744	1	0
ZFYVE28	57732	broad.mit.edu	37	4	2321937	2321937	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr4:2321937C>G	ENST00000290974.2	-	7	1102	c.763G>C	c.(763-765)Gag>Cag	p.E255Q	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.E225Q|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.E185Q	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	255					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.E255Q(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CGGAACAGCTCGGACATGTCT	0.607000													7	47					0	0	0.038147	0	0
ABCB1	5243	broad.mit.edu	37	7	87179543	87179543	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:87179543C>T	ENST00000265724.3	-	13	1711	c.1294G>A	c.(1294-1296)Ggg>Agg	p.G432R	ABCB1_ENST00000543898.1_Missense_Mutation_p.G368R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	432	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.G432R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTGCTCTTCCCACAGCCACTG	0.552000													4	36					0	0	0.029380	0	0
SCAF8	22828	broad.mit.edu	37	6	155152133	155152133	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr6:155152133G>T	ENST00000367178.3	+	19	2794	c.2218G>T	c.(2218-2220)Ggt>Tgt	p.G740C	SCAF8_ENST00000367186.4_Missense_Mutation_p.G806C|SCAF8_ENST00000417268.1_Missense_Mutation_p.G740C	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	740	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	p.G740C(2)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TATACCAGGCGGTTCTGTTGC	0.433000													16	131					1.00905e-13	2.14746e-13	0.049695	1	0
CCDC28A	25901	broad.mit.edu	37	6	139097279	139097279	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr6:139097279A>G	ENST00000332797.6	+	2	447	c.292A>G	c.(292-294)Agg>Ggg	p.R98G		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	98								p.R98G(1)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GAAAGTGAAGAGGAGGAGTCC	0.403000													22	101					0	0	0.069288	0	0
NOC3L	64318	broad.mit.edu	37	10	96099536	96099536	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:96099536G>T	ENST00000371361.3	-	17	2022	c.1922C>A	c.(1921-1923)tCa>tAa	p.S641*	NOC3L_ENST00000371350.1_Nonsense_Mutation_p.S641*|NOC3L_ENST00000543788.1_Nonsense_Mutation_p.S379*	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	641						nuclear speck|nucleolus	binding	p.S641*(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GCCAATACTTGAATTTGGAAG	0.368000													5	84					1.23904e-05	1.89742e-05	0.014758	1	0
RAMP3	10268	broad.mit.edu	37	7	45222926	45222926	+	Missense_Mutation	SNP	C	C	T	rs146295145		TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:45222926C>T	ENST00000242249.4	+	3	400	c.362C>T	c.(361-363)cCg>cTg	p.P121L	RAMP3_ENST00000481345.1_Missense_Mutation_p.P121L|RAMP3_ENST00000496212.1_Missense_Mutation_p.P121L	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	121					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	p.P121L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GTTCTCATCCCGCTGATCGTT	0.622000													11	194					0	0	0.080935	0	0
AGMO	392636	broad.mit.edu	37	7	15430503	15430503	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:15430503T>A	ENST00000342526.3	-	7	873	c.704A>T	c.(703-705)aAt>aTt	p.N235I		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	235					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.N235I(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ACCAGCATAATTTTTGTCTAT	0.259000													10	38					0	0	0.080935	0	0
PRDM9	56979	broad.mit.edu	37	5	23522766	23522766	+	Silent	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:23522766C>G	ENST00000296682.3	+	8	836	c.654C>G	c.(652-654)gcC>gcG	p.A218A		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	218					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.A218A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCTGTGCTGCCCATGGGCCCC	0.512000										HNSCC(3;0.000094)			15	63					0	0	0.146539	0	0
GLA	2717	broad.mit.edu	37	X	100662735	100662735	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:100662735T>A	ENST00000218516.3	-	1	178	c.157A>T	c.(157-159)Aac>Tac	p.N53Y	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000493905.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	53					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	p.N53Y(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	CAGTCAAGGTTGCACATGAAG	0.552000													8	141					0	0	0.038147	0	0
DST	667	broad.mit.edu	37	6	56418454	56418454	+	Splice_Site	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr6:56418454C>G	ENST00000370754.5	-	61	15043		c.e61-1		DST_ENST00000244364.6_Splice_Site|DST_ENST00000370788.2_Splice_Site|DST_ENST00000370769.4_Splice_Site|DST_ENST00000361203.3_Splice_Site|DST_ENST00000312431.6_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000421834.2_Splice_Site			Q03001	DYST_HUMAN	dystonin						cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.?(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATGATTCTCTAGAAATAAA	0.313000													7	68					0	0	0.029380	0	0
CROT	54677	broad.mit.edu	37	7	87005257	87005257	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:87005257G>T	ENST00000331536.3	+	9	1049	c.864G>T	c.(862-864)gaG>gaT	p.E288D	CROT_ENST00000419147.2_Missense_Mutation_p.E316D|CROT_ENST00000442291.1_Missense_Mutation_p.E288D	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	288					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.E288D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TAACACCAGAGGATTATTCTG	0.333000													8	164					0.0477658	0.0517566	0.047766	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118355742	118355742	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:118355742C>A	ENST00000528052.1	+	6	553	c.482C>A	c.(481-483)cCc>cAc	p.P161H	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.P161H|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.P161H			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	161					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.P161H(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TATAGCTACCCCCCTTCCAAA	0.502000													15	316					2.31682e-05	3.48363e-05	0.132662	1	0
MUC16	94025	broad.mit.edu	37	19	9058299	9058299	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr19:9058299G>A	ENST00000397910.4	-	3	29350	c.29147C>T	c.(29146-29148)aCg>aTg	p.T9716M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9718	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T9716M(1)|p.T5349M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCGAGGGCTCGTCCATGACAG	0.468000													6	47					0	0	0.021553	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128403	68128403	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr17:68128403G>T	ENST00000585558.1	+	4	668	c.280G>T	c.(280-282)Gtt>Ttt	p.V94F	KCNJ16_ENST00000589377.1_Missense_Mutation_p.V59F|KCNJ16_ENST00000392671.1_Missense_Mutation_p.V59F|KCNJ16_ENST00000586462.1_Missense_Mutation_p.V98F|KCNJ16_ENST00000392670.1_Missense_Mutation_p.V59F|KCNJ16_ENST00000283936.1_Missense_Mutation_p.V59F			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	59					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.V59F(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AAGCTATGTGGTTGACATCTT	0.403000													11	209					0.000673444	0.000841805	0.069234	1	0
PARP9	83666	broad.mit.edu	37	3	122274537	122274537	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr3:122274537C>A	ENST00000462315.1	-	4	774	c.481G>T	c.(481-483)Gct>Tct	p.A161S	PARP9_ENST00000477522.2_Missense_Mutation_p.A161S|PARP9_ENST00000360356.2_Missense_Mutation_p.A196S|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.A161S	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	196	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	p.A196S(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)		GGCCCAACAGCATGGATGATC	0.463000													4	58					0.00024832	0.000330297	0.150653	1	0
RPS6KA6	27330	broad.mit.edu	37	X	83372409	83372409	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:83372409G>T	ENST00000262752.2	-	10	850	c.843C>A	c.(841-843)acC>acA	p.T281T	RPS6KA6_ENST00000543399.1_Silent_p.T281T	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	281	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.T281T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TCATATTCATGGTCTCATTTC	0.294000													5	35					0.014758	0.0166882	0.014758	1	0
MGAM	8972	broad.mit.edu	37	7	141758016	141758016	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:141758016C>T	ENST00000475668.2	+	31	3761	c.3707C>T	c.(3706-3708)cCt>cTt	p.P1236L	MGAM_ENST00000549489.2_Missense_Mutation_p.P1236L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1236	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1236L(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTGGCCGGCCTGTGATGGTA	0.438000													31	466					0	0	0.092188	0	0
TTC16	158248	broad.mit.edu	37	9	130479638	130479638	+	Nonsense_Mutation	SNP	G	G	T	rs139753825	byFrequency	TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr9:130479638G>T	ENST00000373289.3	+	3	297	c.217G>T	c.(217-219)Gag>Tag	p.E73*	PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	73							binding	p.E73*(1)		central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCAGTGCTTGGAGCAGGCAGA	0.662000													3	35					0.115264	0.122339	0.115264	1	0
TOPORS	10210	broad.mit.edu	37	9	32543811	32543811	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr9:32543811T>A	ENST00000360538.2	-	3	828	c.712A>T	c.(712-714)Agg>Tgg	p.R238W	TOPORS_ENST00000379858.1_Missense_Mutation_p.R173W	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	238	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.R238W(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GTAGTTGGCCTCCTTACTGCA	0.398000													7	218					0	0	0.038147	0	0
OR5L1	219437	broad.mit.edu	37	11	55579854	55579854	+	Silent	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:55579854G>C	ENST00000333973.2	+	1	1001	c.912G>C	c.(910-912)gtG>gtC	p.V304V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V304V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCAGAAAAGTGATGGGCTCCA	0.468000													3	54					0	0	0.150653	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837707	12837707	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:12837707C>A	ENST00000357726.4	+	3	1444	c.1417C>A	c.(1417-1419)Ctg>Atg	p.L473M		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	473								p.L473M(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTCACTGTCTGTTGAATGC	0.507000													11	98					0.00010058	0.000138214	0.093190	1	0
BCORL1	63035	broad.mit.edu	37	X	129147341	129147341	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:129147341C>A	ENST00000540052.1	+	3	637	c.593C>A	c.(592-594)cCt>cAt	p.P198H	BCORL1_ENST00000218147.7_Missense_Mutation_p.P198H|BCORL1_ENST00000303743.5_Missense_Mutation_p.P198H|BCORL1_ENST00000359304.2_Missense_Mutation_p.P198H	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	198	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.P198H(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AACTTCAGTCCTCTGCCAGCC	0.592000													5	114					0.0381472	0.0415514	0.038147	1	0
MRPL1	65008	broad.mit.edu	37	4	78830509	78830509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr4:78830509C>T	ENST00000315567.8	+	7	1089	c.760C>T	c.(760-762)Cag>Tag	p.Q254*		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	254							RNA binding	p.Q254*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GAACTTTCTCCAGACCAAAAT	0.294000													7	133					0	0	0.029380	0	0
ANTXR1	84168	broad.mit.edu	37	2	69304562	69304562	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:69304562A>C	ENST00000303714.4	+	8	906	c.584A>C	c.(583-585)aAg>aCg	p.K195T	ANTXR1_ENST00000409349.3_Missense_Mutation_p.K195T|ANTXR1_ENST00000409829.3_Missense_Mutation_p.K195T	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	195	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.K195T(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCGGACAGTAAGGATCATGTG	0.498000									Familial Infantile Hemangioma				12	171					0	0	0.105934	0	0
SNTG2	54221	broad.mit.edu	37	2	1251123	1251123	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:1251123G>C	ENST00000308624.5	+	12	1042	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	SNTG2_ENST00000407292.1_Missense_Mutation_p.E178Q	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	305	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.E305Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GTGGGTAAATGAGAAACTCCA	0.498000													6	60					0	0	0.021553	0	0
DYSF	8291	broad.mit.edu	37	2	71795382	71795382	+	Silent	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:71795382G>C	ENST00000258104.3	+	26	3001	c.2724G>C	c.(2722-2724)acG>acC	p.T908T	DYSF_ENST00000429174.2_Silent_p.T908T|DYSF_ENST00000413539.2_Silent_p.T939T|DYSF_ENST00000410020.3_Silent_p.T926T|DYSF_ENST00000410041.1_Silent_p.T926T|DYSF_ENST00000409762.1_Silent_p.T925T|DYSF_ENST00000409651.1_Silent_p.T940T|DYSF_ENST00000394120.2_Silent_p.T909T|DYSF_ENST00000409582.3_Silent_p.T925T|DYSF_ENST00000409366.1_Silent_p.T909T|DYSF_ENST00000409744.1_Silent_p.T895T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	908						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.T908T(2)|p.T926T(2)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTGACGTCACGGGCAAGATCA	0.592000													23	412					0	0	0.091800	0	0
PIGN	23556	broad.mit.edu	37	18	59777144	59777144	+	Silent	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr18:59777144C>G	ENST00000357637.5	-	17	1912	c.1497G>C	c.(1495-1497)ctG>ctC	p.L499L	PIGN_ENST00000400334.3_Silent_p.L499L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	499					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	p.L499L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CTTGAATCAGCAGAAAAAATG	0.393000													9	126					0	0	0.047766	0	0
PCLO	27445	broad.mit.edu	37	7	82583786	82583786	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:82583786C>A	ENST00000423517.2	-	5	6820	c.6483G>T	c.(6481-6483)tcG>tcT	p.S2161S	PCLO_ENST00000333891.8_Silent_p.S2161S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2092					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S2161S(2)|p.S2092S(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAAAATCAGCGATTCATGGG	0.403000													5	95					0.0215528	0.0239796	0.021553	1	0
KIF9	64147	broad.mit.edu	37	3	47289507	47289507	+	Splice_Site	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr3:47289507C>A	ENST00000335044.2	-	11	1486		c.e11+1		KIF9_ENST00000265529.3_Splice_Site|KIF9_ENST00000487440.1_Splice_Site|KIF9_ENST00000352910.4_Splice_Site|KIF9_ENST00000452770.2_Splice_Site|KIF9_ENST00000444589.2_Splice_Site	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9						blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TAGCCTCTTACCAGGCTGTCA	0.577000													18	169					2.44723e-14	5.37355e-14	0.099896	1	0
TCF25	22980	broad.mit.edu	37	16	89967042	89967042	+	Splice_Site	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr16:89967042G>T	ENST00000263346.8	+	12	1277		c.e12-1		TCF25_ENST00000263347.7_Splice_Site	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)						heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.?(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GTCCCTCGTAGGCTCATCGGA	0.527000													7	100					0.00198382	0.00239327	0.029380	1	0
ABI1	10006	broad.mit.edu	37	10	27048010	27048010	+	Silent	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:27048010T>A	ENST00000355394.4	-	9	1285	c.1062A>T	c.(1060-1062)ccA>ccT	p.P354P	ABI1_ENST00000376160.1_Silent_p.P320P|ABI1_ENST00000376140.3_Silent_p.P326P|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376170.4_Silent_p.P325P|ABI1_ENST00000376142.2_Silent_p.P353P|ABI1_ENST00000376134.3_Silent_p.P327P|ABI1_ENST00000359188.4_Silent_p.P325P|ABI1_ENST00000376166.1_Silent_p.P320P|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376138.3_Silent_p.P326P|ABI1_ENST00000376139.2_Silent_p.P321P|ABI1_ENST00000346832.5_Silent_p.P370P|ABI1_ENST00000536334.1_Intron			Q8IZP0	ABI1_HUMAN	abl-interactor 1	353	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	p.P353P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGAATAAAGTGGACCTCCAT	0.418000													5	126					0	0	0.021553	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284538	118284538	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:118284538C>A	ENST00000402510.2	-	1	4	c.5G>T	c.(4-6)aGg>aTg	p.R2M		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	2								p.R2M(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CCAGCCGGCCCTCATTTCCCC	0.657000													5	63					0.0215528	0.0239796	0.021553	1	0
CLCN5	1184	broad.mit.edu	37	X	49845313	49845313	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:49845313C>A	ENST00000376088.3	+	8	1307	c.666C>A	c.(664-666)ttC>ttA	p.F222L	CLCN5_ENST00000376108.3_Missense_Mutation_p.F152L|CLCN5_ENST00000376091.3_Missense_Mutation_p.F222L|CLCN5_ENST00000307367.2_Missense_Mutation_p.F152L	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	152					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	p.F222L(1)|p.F152L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TATTTGCCTTCCTTGCCGTAT	0.443000													5	150					1.23904e-05	1.89742e-05	0.014758	1	0
NLRP8	126205	broad.mit.edu	37	19	56485017	56485017	+	Splice_Site	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr19:56485017G>C	ENST00000291971.3	+	7	2605		c.e7-1		NLRP8_ENST00000590542.1_Intron	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8							cytoplasm	ATP binding	p.?(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTCCCATAGGATAGAGAAC	0.517000													12	509					0	0	0.119110	0	0
NAP1L4	4676	broad.mit.edu	37	11	2979700	2979700	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:2979700C>A	ENST00000380542.4	-	10	961	c.821G>T	c.(820-822)cGa>cTa	p.R274L	NAP1L4_ENST00000526115.1_Missense_Mutation_p.R274L	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	274					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	p.R274L(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		AACAGTGCCTCGACCCTTATG	0.388000													6	71					0.00198382	0.00239327	0.029380	1	0
CYLC1	1538	broad.mit.edu	37	X	83128563	83128563	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:83128563T>A	ENST00000329312.4	+	4	884	c.847T>A	c.(847-849)Tat>Aat	p.Y283N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	283					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.Y283N(1)|p.Y282N(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GTATACAAAGTATACAAAGAA	0.313000													7	69					0	0	0.029380	0	0
GPR174	84636	broad.mit.edu	37	X	78426662	78426662	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:78426662G>T	ENST00000276077.1	+	1	194	c.158G>T	c.(157-159)cGa>cTa	p.R53L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	53						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R53L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GAAACAAAACGAGCTGTGATA	0.373000										HNSCC(63;0.18)			4	40					2.56e-06	4.19921e-06	0.150653	1	0
ZNF99	7652	broad.mit.edu	37	19	22940448	22940448	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr19:22940448G>C	ENST00000397104.3	-	5	1989	c.1990C>G	c.(1990-1992)Cat>Gat	p.H664D	ZNF99_ENST00000596209.1_Missense_Mutation_p.H755D					zinc finger protein 99									p.H664D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTGCAGTATGAATTACCTTA	0.353000													10	119					0	0	0.080935	0	0
LCE1F	353137	broad.mit.edu	37	1	152748887	152748887	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:152748887C>A	ENST00000334371.2	+	1	40	c.40C>A	c.(40-42)Ccc>Acc	p.P14T		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	14	Pro-rich.				keratinization			p.P14T(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCCccctcccaagtgcac	0.622000													5	57					1.26484e-09	2.40785e-09	0.038147	1	0
SAG	6295	broad.mit.edu	37	2	234227423	234227423	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:234227423C>A	ENST00000409110.1	+	4	393	c.163C>A	c.(163-165)Ctt>Att	p.L55I		NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	55					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	p.L55I(2)		cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TGATCCTGATCTTGTGAAGGG	0.512000													14	158					2.31682e-05	3.48363e-05	0.132662	1	0
PRR14L	253143	broad.mit.edu	37	22	32108284	32108284	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr22:32108284G>T	ENST00000327423.6	-	4	5730	c.5541C>A	c.(5539-5541)acC>acA	p.T1847T	PRR14L_ENST00000397493.2_Silent_p.T1847T|PRR14L_ENST00000434485.1_Silent_p.T1847T	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1847								p.T1847T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GCCTCTGCATGGTAGGCATGT	0.522000													6	94					0.00307968	0.00365162	0.038147	1	0
PPM1L	151742	broad.mit.edu	37	3	160474182	160474182	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr3:160474182T>C	ENST00000498165.1	+	1	187	c.86T>C	c.(85-87)cTg>cCg	p.L29P	PPM1L_ENST00000497343.1_Missense_Mutation_p.L29P	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	29					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.L29P(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CTTTTCCTGCTGTGCATCAGC	0.517000													16	88					0	0	0.043863	0	0
SYNE1	23345	broad.mit.edu	37	6	152725441	152725441	+	Silent	SNP	A	A	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr6:152725441A>C	ENST00000367255.5	-	46	7333	c.6732T>G	c.(6730-6732)gtT>gtG	p.V2244V	SYNE1_ENST00000448038.1_Silent_p.V2251V|SYNE1_ENST00000341594.5_Silent_p.V2281V|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000265368.4_Silent_p.V2244V|SYNE1_ENST00000423061.1_Silent_p.V2251V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2244					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.V2244V(2)|p.V2251V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGTTTTTAACTTCAGACT	0.333000										HNSCC(10;0.0054)			9	139					0	0	0.058154	0	0
WIPF2	147179	broad.mit.edu	37	17	38416822	38416822	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr17:38416822G>T	ENST00000323571.4	+	3	339	c.99G>T	c.(97-99)gaG>gaT	p.E33D	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Missense_Mutation_p.E33D|WIPF2_ENST00000585043.1_Missense_Mutation_p.E33D|WIPF2_ENST00000394103.3_Missense_Mutation_p.E33D|WIPF2_ENST00000583130.1_Missense_Mutation_p.E33D	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	33						cytoplasm|cytoskeleton	actin binding	p.E33D(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GTAGAGATGAGCAGCGGGGTC	0.527000										HNSCC(43;0.11)			6	105					1.12685e-05	1.75806e-05	0.047766	1	0
SI	6476	broad.mit.edu	37	3	164709251	164709251	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr3:164709251G>T	ENST00000264382.3	-	44	5060	c.4998C>A	c.(4996-4998)ggC>ggA	p.G1666G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1666	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.G1666G(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCCTCTGACGCCAATATCTT	0.403000										HNSCC(35;0.089)			8	66					0.000157383	0.000212059	0.038147	1	0
PRR5L	79899	broad.mit.edu	37	11	36484285	36484285	+	Nonstop_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:36484285G>T	ENST00000378867.3	+	10	1461	c.1106G>T	c.(1105-1107)tGa>tTa	p.*369L	PRR5L_ENST00000311599.5_Nonstop_Mutation_p.*296L|PRR5L_ENST00000530639.1_Nonstop_Mutation_p.*369L|PRR5L_ENST00000389693.3_3'UTR	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	0								p.*369L(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						TCCCTCAGCTGAGTCGCCACC	0.607000													3	39					0.115264	0.122339	0.115264	1	0
KANSL1	284058	broad.mit.edu	37	17	44249162	44249162	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr17:44249162C>A	ENST00000262419.6	-	2	818	c.348G>T	c.(346-348)caG>caT	p.Q116H	KANSL1_ENST00000572904.1_Missense_Mutation_p.Q116H|KANSL1_ENST00000432791.1_Missense_Mutation_p.Q116H|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Missense_Mutation_p.Q116H|KANSL1_ENST00000574590.1_Missense_Mutation_p.Q116H	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	116						MLL1 complex	protein binding	p.Q116H(1)									GTTCATAGGACTGAGATAAGA	0.458000													17	410					0.000566183	0.000727449	0.160694	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803228	185803228	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:185803228G>T	ENST00000302277.6	+	4	3699	c.3105G>T	c.(3103-3105)ttG>ttT	p.L1035F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1035						intracellular	zinc ion binding	p.L1035F(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGCATTATTGATCCCACTAG	0.413000													9	147					6.40141e-05	9.0979e-05	0.080935	1	0
MUC16	94025	broad.mit.edu	37	19	9073838	9073838	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr19:9073838G>C	ENST00000397910.4	-	3	13811	c.13608C>G	c.(13606-13608)aaC>aaG	p.N4536K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4538	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.N4536K(2)|p.N169K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCACTGCTTTGTTTATGGAAG	0.453000													5	72					0	0	0.014758	0	0
DDX60L	91351	broad.mit.edu	37	4	169300609	169300609	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr4:169300609G>A	ENST00000511577.1	-	32	4515	c.4268C>T	c.(4267-4269)gCa>gTa	p.A1423V	DDX60L_ENST00000260184.7_Missense_Mutation_p.A1423V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1423							ATP binding|ATP-dependent helicase activity|RNA binding	p.A1424V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAAATATGATGCAAGTCCTGC	0.328000													7	48					0	0	0.029380	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166174	180166174	+	Silent	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:180166174G>A	ENST00000307832.2	-	1	925	c.885C>T	c.(883-885)gaC>gaT	p.D295D		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D295D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCCTTCACGTCCTTGTTTC	0.408000													8	231					0	0	0.069234	0	0
OPCML	4978	broad.mit.edu	37	11	132306643	132306643	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:132306643G>A	ENST00000331898.7	-	5	1273	c.695C>T	c.(694-696)aCt>aTt	p.T232I	OPCML_ENST00000541867.1_Missense_Mutation_p.T232I|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.T225I|OPCML_ENST00000374778.4_Missense_Mutation_p.T191I	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	232	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.T225I(1)|p.T232I(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGAAACACCAGTGTTCTTGGC	0.498000													4	64					0	0	0.014758	0	0
LIPI	149998	broad.mit.edu	37	21	15537620	15537620	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr21:15537620A>T	ENST00000344577.2	-	6	913	c.888T>A	c.(886-888)tgT>tgA	p.C296*	LIPI_ENST00000536861.1_Nonsense_Mutation_p.C275*	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	275					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.C296*(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGTATGAACGACAAGGAAATG	0.358000													11	99					0	0	0.069234	0	0
XIRP2	129446	broad.mit.edu	37	2	168102024	168102024	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:168102024C>A	ENST00000409195.1	+	9	4211	c.4122C>A	c.(4120-4122)gtC>gtA	p.V1374V	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V1152V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V1374V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1199					actin cytoskeleton organization	cell junction	actin binding	p.V1374V(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTAAATCTGTCACACAAGAAG	0.358000													9	112					0.000274275	0.000359067	0.047766	1	0
IGSF11	152404	broad.mit.edu	37	3	118623644	118623644	+	Splice_Site	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr3:118623644G>A	ENST00000354673.2	-	8	1082	c.700_splice	c.e8-1	p.P234_splice	IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000425327.2_Splice_Site_p.P234_splice|IGSF11_ENST00000441144.2_Splice_Site_p.A210_splice|IGSF11_ENST00000393775.2_Splice_Site_p.P235_splice|IGSF11_ENST00000489689.1_Splice_Site_p.A211_splice	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	235	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.P234P(1)|p.P235P(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCTGGGCTGGGCTGCAAAAT	0.348000													17	195					0	0	0.146539	0	0
USH2A	7399	broad.mit.edu	37	1	215820889	215820889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:215820889C>T	ENST00000366943.2	-	67	15152	c.14766G>A	c.(14764-14766)tgG>tgA	p.W4922*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.W4922*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4922	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W4922*(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAAACTGATCCACTCGGAAG	0.542000										HNSCC(13;0.011)			8	49					0	0	0.038147	0	0
TSC2	7249	broad.mit.edu	37	16	2122317	2122317	+	Missense_Mutation	SNP	A	A	T	rs137854216		TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr16:2122317A>T	ENST00000219476.3	+	20	2803	c.2173A>T	c.(2173-2175)Act>Tct	p.T725S	TSC2_ENST00000350773.4_Missense_Mutation_p.T725S|TSC2_ENST00000568454.1_Missense_Mutation_p.T736S|TSC2_ENST00000401874.2_Missense_Mutation_p.T725S|TSC2_ENST00000439673.2_Missense_Mutation_p.T688S|TSC2_ENST00000353929.4_Missense_Mutation_p.T725S|TSC2_ENST00000382538.6_Missense_Mutation_p.T676S	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	725					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	p.T725S(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCTCATCTTTACTTCCCCTTG	0.602000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				5	144					0	0	0.014758	0	0
NIPBL	25836	broad.mit.edu	37	5	37049220	37049220	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:37049220A>T	ENST00000282516.8	+	40	7270	c.6771A>T	c.(6769-6771)aaA>aaT	p.K2257N	NIPBL_ENST00000448238.2_Missense_Mutation_p.K2257N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2257					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.K2257N(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TAGGGAAGAAAGTTGCAAAAC	0.358000													23	239					0	0	0.083992	0	0
SOX7	83595	broad.mit.edu	37	8	10583456	10583456	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr8:10583456T>A	ENST00000304501.1	-	2	1037	c.959A>T	c.(958-960)cAg>cTg	p.Q320L	SOX7_ENST00000554914.1_Missense_Mutation_p.Q372L|SOX7_ENST00000553390.1_Missense_Mutation_p.Q372L	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	320	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.Q320L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GAGTTCCACCTGGCTCAGTTG	0.627000													6	40					0	0	0.029380	0	0
EML4	27436	broad.mit.edu	37	2	42515415	42515415	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:42515415C>G	ENST00000318522.5	+	11	1433	c.1171C>G	c.(1171-1173)Ctt>Gtt	p.L391V	EML4_ENST00000401738.3_Missense_Mutation_p.L402V|EML4_ENST00000402711.2_Missense_Mutation_p.L333V	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	391					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.L391V(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TGAGCATATGCTTACTGTATG	0.338000			T	ALK	NSCLC								5	131					0	0	0.021553	0	0
TJP1	7082	broad.mit.edu	37	15	30024963	30024963	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr15:30024963C>A	ENST00000346128.6	-	14	2267	c.1793G>T	c.(1792-1794)cGt>cTt	p.R598L	TJP1_ENST00000400011.2_Missense_Mutation_p.R602L|TJP1_ENST00000356107.6_Missense_Mutation_p.R598L|TJP1_ENST00000545208.2_Missense_Mutation_p.R598L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	598	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.R598L(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAAGTCAGCACGGTCTCCGCC	0.443000													5	56					0.000602214	0.000759632	0.014758	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181956	140181956	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:140181956C>A	ENST00000522353.2	+	1	1174	c.1174C>A	c.(1174-1176)Cac>Aac	p.H392N	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.H392N	NM_018906.2	NP_061729.1												p.H392N(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGACGCCCCACGTCCCCTT	0.567000													5	102					3.59834e-05	5.23968e-05	0.021553	1	0
DCTN1	1639	broad.mit.edu	37	2	74593020	74593020	+	Splice_Site	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:74593020C>T	ENST00000361874.3	-	24	3203	c.2886_splice	c.e24+1	p.K962_splice	DCTN1_ENST00000407639.2_Splice_Site_p.K828_splice|DCTN1_ENST00000394003.3_Splice_Site_p.K955_splice|DCTN1_ENST00000409868.1_Splice_Site_p.K945_splice|DCTN1_ENST00000409567.3_Splice_Site_p.K942_splice|DCTN1_ENST00000409240.1_Splice_Site_p.K925_splice|DCTN1_ENST00000409438.1_Splice_Site_p.K828_splice	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	962					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	p.K962K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTACCCTCACCTTAATCTTGA	0.512000													14	206					0	0	0.132662	0	0
USP34	9736	broad.mit.edu	37	2	61484357	61484357	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:61484357T>A	ENST00000398571.2	-	45	6049	c.5973A>T	c.(5971-5973)gaA>gaT	p.E1991D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1991					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E1991D(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GAGACATTTCTTCGATTTTGG	0.338000													14	129					0	0	0.132662	0	0
EPB41L3	23136	broad.mit.edu	37	18	5428374	5428374	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr18:5428374G>T	ENST00000341928.2	-	9	1343	c.1003C>A	c.(1003-1005)Ccc>Acc	p.P335T	EPB41L3_ENST00000540638.2_Missense_Mutation_p.P335T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.P335T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.P335T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P335T|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	335	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.P335T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGAACCTTGGGCCAGGCAAAT	0.443000													11	208					3.07112e-06	4.97857e-06	0.080935	1	0
BICD1	636	broad.mit.edu	37	12	32447000	32447000	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr12:32447000C>A	ENST00000548411.1	+	3	680	c.499C>A	c.(499-501)Cgg>Agg	p.R167R	BICD1_ENST00000281474.5_Silent_p.R167R	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	167					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	p.R167R(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CCGGGAGGCACGGCTCCTTCA	0.398000													7	58					0.000157383	0.000212059	0.038147	1	0
MYBL1	4603	broad.mit.edu	37	8	67492485	67492485	+	Silent	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr8:67492485C>T	ENST00000522677.3	-	9	1394	c.984G>A	c.(982-984)caG>caA	p.Q328Q	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Silent_p.Q328Q	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	328	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q328Q(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CAGACACAGGCTGATTTTCAT	0.458000													9	44					0	0	0.058154	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692128	31692128	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr21:31692128G>T	ENST00000360542.3	-	1	479	c.226C>A	c.(226-228)Ctt>Att	p.L76I		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	76						intermediate filament		p.L76I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GAGGTTTCAAGATTGCCGGTC	0.547000													13	125					8.60227e-14	1.87892e-13	0.146539	1	0
C1orf94	84970	broad.mit.edu	37	1	34663388	34663388	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:34663388C>A	ENST00000488417.1	+	2	1003	c.883C>A	c.(883-885)Cga>Aga	p.R295R	C1orf94_ENST00000373374.3_Silent_p.R105R	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	105							protein binding	p.R105R(1)|p.R295R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCTGCCTCCCCGACCTCCTCC	0.602000													4	78					0.000602214	0.000759632	0.014758	1	0
NXF5	55998	broad.mit.edu	37	X	101096045	101096045	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:101096045C>A	ENST00000537026.1	-	8	782	c.423G>T	c.(421-423)ctG>ctT	p.L141L	NXF5_ENST00000361708.2_Silent_p.L141L|NXF5_ENST00000473265.2_Silent_p.L141L	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	141					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.L141L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTCTTCGATTCAGGATTATAT	0.522000													9	224					2.17888e-05	3.30012e-05	0.058154	1	0
CCDC148	130940	broad.mit.edu	37	2	159166148	159166148	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:159166148C>A	ENST00000283233.5	-	9	1220	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	CCDC148_ENST00000409187.1_Nonsense_Mutation_p.E312*|CCDC148_ENST00000536771.1_Nonsense_Mutation_p.E217*	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	303								p.E303*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCTCGTGTTCAACCTGAAAA	0.299000													6	80					0.0381472	0.0415514	0.038147	1	0
CRHR1	1394	broad.mit.edu	37	17	43906655	43906655	+	Silent	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr17:43906655C>G	ENST00000314537.5	+	5	627	c.402C>G	c.(400-402)ctC>ctG	p.L134L	CRHR1_ENST00000339069.5_Silent_p.L33L|CRHR1_ENST00000352855.5_Silent_p.L94L|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000398285.3_Silent_p.L134L|CRHR1_ENST00000577353.1_Silent_p.L134L	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	134					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.L134L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TGGTGGCCCTCCTGGTGGCCT	0.577000													3	60					0	0	0.115264	0	0
CEP170	9859	broad.mit.edu	37	1	243354347	243354347	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:243354347C>A	ENST00000366542.1	-	8	1132	c.1081G>T	c.(1081-1083)Gtt>Ttt	p.V361F	CEP170_ENST00000366544.1_Missense_Mutation_p.V361F|CEP170_ENST00000366543.1_Missense_Mutation_p.V361F	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	361						centriole|microtubule|spindle		p.V361F(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TACACTGGAACATCACTTTTA	0.378000													4	14					0.014758	0.0166882	0.014758	1	0
CHD2	1106	broad.mit.edu	37	15	93496623	93496623	+	Silent	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr15:93496623A>T	ENST00000394196.4	+	14	2607	c.1539A>T	c.(1537-1539)ctA>ctT	p.L513L	CHD2_ENST00000557381.1_Silent_p.L513L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	513	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.L513L(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAATGGGCCTAGGAAAGACCA	0.398000													7	121					0	0	0.038147	0	0
EPHA7	2045	broad.mit.edu	37	6	94120814	94120814	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr6:94120814G>T	ENST00000369303.4	-	3	421	c.237C>A	c.(235-237)ccC>ccA	p.P79P	EPHA7_ENST00000369297.1_Silent_p.P79P	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	79						integral to plasma membrane	ATP binding|ephrin receptor activity	p.P79P(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGTTTTGGTTGGGCTCCATGA	0.418000													13	179					1.36491e-13	2.88999e-13	0.105934	1	0
SH2B2	10603	broad.mit.edu	37	7	101952177	101952177	+	Silent	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:101952177C>T	ENST00000536178.1	+	4	1086	c.1041C>T	c.(1039-1041)tgC>tgT	p.C347C	SH2B2_ENST00000306803.8_Silent_p.C304C			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	304					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	p.C347C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TCCAGGGCTGCGTGGACCCCG	0.607000													11	145					0	0	0.069234	0	0
SEC31B	25956	broad.mit.edu	37	10	102249904	102249904	+	Silent	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:102249904C>G	ENST00000370345.3	-	21	2923	c.2826G>C	c.(2824-2826)ctG>ctC	p.L942L		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	942	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.L942L(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAGTGGTCTCAGAGGAAGCA	0.622000													4	87					0	0	0.150653	0	0
SPEG	10290	broad.mit.edu	37	2	220333380	220333380	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:220333380G>T	ENST00000312358.7	+	11	3355	c.3223G>T	c.(3223-3225)Gtg>Ttg	p.V1075L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1075	Ig-like 5.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.V1075L(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGATGTGGAGGTGTTGGAGGG	0.642000													3	49					0.115264	0.122339	0.115264	1	0
LOC440040	440040	broad.mit.edu	37	11	49805625	49805625	+	RNA	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:49805625G>T	ENST00000527477.1	+	0	1312																											TTCTGGGCAGGTGAGTGATGA	0.478000													12	105					9.31168e-06	1.46377e-05	0.105934	1	0
GATAD2B	57459	broad.mit.edu	37	1	153800615	153800615	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:153800615C>A	ENST00000368655.4	-	2	452	c.209G>T	c.(208-210)aGt>aTt	p.S70I		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	70						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S70I(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTGACACCACTGCCATCCTG	0.473000													15	287					4.14922e-12	8.52438e-12	0.146539	1	0
OR8H3	390152	broad.mit.edu	37	11	55890175	55890175	+	Silent	SNP	T	T	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:55890175T>C	ENST00000313472.3	+	1	327	c.327T>C	c.(325-327)acT>acC	p.T109T		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T109T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCTTGGGTACTGCTGAATGTT	0.463000													23	566					0	0	0.076483	0	0
MEGF10	84466	broad.mit.edu	37	5	126754829	126754829	+	Silent	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:126754829C>G	ENST00000274473.6	+	12	1590	c.1323C>G	c.(1321-1323)acC>acG	p.T441T	MEGF10_ENST00000418761.2_Silent_p.T441T|MEGF10_ENST00000508365.1_Silent_p.T441T|MEGF10_ENST00000503335.2_Silent_p.T441T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	441	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.T441T(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACTGCTCTACCCCATGCCCTC	0.448000													13	202					0	0	0.132662	0	0
RNF219	79596	broad.mit.edu	37	13	79190730	79190730	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr13:79190730G>C	ENST00000282003.6	-	6	1224	c.1166C>G	c.(1165-1167)cCt>cGt	p.P389R	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	389							zinc ion binding	p.P389R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGGAGTACAAGGAGCTGGAAG	0.423000													17	166					0	0	0.146539	0	0
CDH9	1007	broad.mit.edu	37	5	26906121	26906121	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:26906121G>T	ENST00000231021.4	-	5	930	c.758C>A	c.(757-759)aCa>aAa	p.T253K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	253	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T253K(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GATGTTCACTGTGGTGGTTCC	0.458000													19	301					7.07596e-05	0.000100223	0.175082	1	0
OR4N5	390437	broad.mit.edu	37	14	20612538	20612538	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr14:20612538T>A	ENST00000333629.1	+	1	644	c.644T>A	c.(643-645)cTg>cAg	p.L215Q		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L215Q(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTGGGCCTTCTGGCCTCCTAT	0.512000													25	137					0	0	0.083992	0	0
MATN2	4147	broad.mit.edu	37	8	99015917	99015917	+	Silent	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr8:99015917G>A	ENST00000254898.5	+	8	1464	c.1233G>A	c.(1231-1233)ccG>ccA	p.P411P	MATN2_ENST00000522025.2_Silent_p.P127P|MATN2_ENST00000521689.1_Silent_p.P411P|MATN2_ENST00000520016.1_Silent_p.P411P|MATN2_ENST00000524308.1_Silent_p.P370P	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	411	EGF-like 5.					proteinaceous extracellular matrix	calcium ion binding	p.P411P(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGAACAAACCGGGCTGTGAGC	0.597000													4	61					0	0	0.150653	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98678023	98678023	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr9:98678023A>T	ENST00000288985.7	+	5	1200	c.895A>T	c.(895-897)Atg>Ttg	p.M299L	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.M110L	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	299	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	p.M299L(1)									AACAGAAGTTATGAAAGCTTT	0.398000													15	131					0	0	0.132662	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695055	219695055	+	Silent	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:219695055G>A	ENST00000439262.2	-	4	299	c.204C>T	c.(202-204)ttC>ttT	p.F68F	PRKAG3_ENST00000529249.1_Silent_p.F93F|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Silent_p.F93F	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	93					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	p.F93F(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTCTTGGGGAATGTGGCCT	0.632000													5	42					0	0	0.038147	0	0
BMP7	655	broad.mit.edu	37	20	55803312	55803312	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr20:55803312T>C	ENST00000395863.3	-	2	1089	c.584A>G	c.(583-585)tAt>tGt	p.Y195C	BMP7_ENST00000395864.3_Missense_Mutation_p.Y195C|BMP7_ENST00000450594.2_Missense_Mutation_p.Y195C	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	195					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	p.Y195C(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GAGCACCTGATAAACGCTGAT	0.572000													9	239					0	0	0.069234	0	0
ZNF765	91661	broad.mit.edu	37	19	53911926	53911926	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr19:53911926A>T	ENST00000396408.3	+	4	1235	c.1118A>T	c.(1117-1119)cAt>cTt	p.H373L	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H373L(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TTTACATGCCATCATAGAGTT	0.408000													7	185					0	0	0.029380	0	0
OPN1MW2	728458	broad.mit.edu	37	X	153496193	153496193	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:153496193G>T	ENST00000369929.4	+	5	981	c.921G>T	c.(919-921)ccG>ccT	p.P307P		NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2									p.P307P(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCCCTGCCGGCCTTCTTTG	0.537000													12	81					1.00905e-13	2.14746e-13	0.049695	1	0
MYBL2	4605	broad.mit.edu	37	20	42331360	42331360	+	Silent	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr20:42331360C>T	ENST00000217026.4	+	8	1309	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	MYBL2_ENST00000396863.4_Silent_p.P370P	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	394						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S395C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCATCTCCCCCAGCACTGAAG	0.647000													6	62					0	0	0.058154	0	0
L1CAM	3897	broad.mit.edu	37	X	153141232	153141232	+	Silent	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:153141232G>A	ENST00000370060.1	-	2	249	c.60C>T	c.(58-60)atC>atT	p.I20I	L1CAM_ENST00000361981.3_Silent_p.I20I|L1CAM_ENST00000370055.1_Silent_p.I20I|L1CAM_ENST00000361699.4_Silent_p.I20I|L1CAM_ENST00000370057.3_Silent_p.I20I|L1CAM_ENST00000538883.1_Silent_p.I20I|L1CAM_ENST00000543994.1_Silent_p.I20I	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	20					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.I20I(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGGATCTGGATAAGCAGGC	0.642000													3	42					0	0	0.115264	0	0
STX16	8675	broad.mit.edu	37	20	57245566	57245566	+	Splice_Site	SNP	A	A	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr20:57245566A>C	ENST00000371141.4	+	6	1280		c.e6-1		STX16_ENST00000355957.5_Splice_Site|STX16_ENST00000361770.5_Splice_Site|STX16_ENST00000358029.4_Splice_Site|STX16_ENST00000361830.3_Splice_Site|STX16_ENST00000359617.4_Splice_Site|STX16-NPEPL1_ENST00000530122.1_Splice_Site|STX16_ENST00000371132.4_Splice_Site|STX16_ENST00000496003.1_Splice_Site	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16						intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	p.?(1)		breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TATCTGTGATAGGCATGAAGA	0.388000													3	82					0	0	0.115264	0	0
EVC2	132884	broad.mit.edu	37	4	5693029	5693029	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr4:5693029G>A	ENST00000310917.2	-	4	973	c.242C>T	c.(241-243)aCt>aTt	p.T81I	EVC2_ENST00000344408.5_Missense_Mutation_p.T161I|EVC2_ENST00000344938.1_Missense_Mutation_p.T161I	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	161						integral to membrane		p.T161I(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ATTTTCAGAAGTCCCTTGAAC	0.299000													5	147					0	0	0.021553	0	0
TRPV6	55503	broad.mit.edu	37	7	142574936	142574936	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:142574936C>A	ENST00000359396.3	-	4	691	c.446G>T	c.(445-447)gGc>gTc	p.G149V	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	149					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.G149V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAAGGCAGTGCCTGTGGCTCT	0.617000													3	25					0.000602214	0.000759632	0.014758	1	0
LEP	3952	broad.mit.edu	37	7	127892140	127892140	+	Silent	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:127892140C>T	ENST00000308868.4	+	2	120	c.69C>T	c.(67-69)ccC>ccT	p.P23P		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	23					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space		p.P23P(1)		endometrium(1)|large_intestine(2)|lung(5)	8						AAGCTGTGCCCATCCAAAAAG	0.488000													19	222					0	0	0.049695	0	0
XIAP	331	broad.mit.edu	37	X	123019764	123019764	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:123019764G>T	ENST00000371199.3	+	2	551	c.252G>T	c.(250-252)agG>agT	p.R84S	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Missense_Mutation_p.R84S|XIAP_ENST00000434753.3_Missense_Mutation_p.R84S	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	84					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	p.R84S(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GAAGACACAGGAAAGTATCCC	0.423000									X-linked Lymphoproliferative syndrome				8	181					0.000157383	0.000212059	0.038147	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147092834	147092834	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:147092834C>A	ENST00000361727.3	+	10	2148	c.1632C>A	c.(1630-1632)ttC>ttA	p.F544L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	544	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.F544L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGGGAAGTTTCGCGAATGTCA	0.438000										HNSCC(39;0.1)			9	225					0.0581538	0.0628485	0.058154	1	0
SDCCAG8	10806	broad.mit.edu	37	1	243579109	243579109	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:243579109G>T	ENST00000366541.3	+	14	1840	c.1722G>T	c.(1720-1722)atG>atT	p.M574I	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.M429I|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.M531I	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	574	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	p.M574I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TACAGCAAATGGAGGCCCAGC	0.507000													7	32					0.00198382	0.00239327	0.029380	1	0
COL5A2	1290	broad.mit.edu	37	2	189904125	189904125	+	Silent	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:189904125T>A	ENST00000374866.3	-	51	4072	c.3798A>T	c.(3796-3798)ccA>ccT	p.P1266P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1266	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.P1266P(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CATGAACCCCTGGGTCCGTTT	0.512000													4	54					0	0	0.150653	0	0
FCRL4	83417	broad.mit.edu	37	1	157556006	157556006	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:157556006T>G	ENST00000271532.1	-	6	1222	c.1087A>C	c.(1087-1089)Aac>Cac	p.N363H	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	363	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.N363H(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CCGTAGCTGTTGTCTGCTGTA	0.502000													17	185					0	0	0.055883	0	0
LRRC7	57554	broad.mit.edu	37	1	70504491	70504491	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:70504491C>G	ENST00000310961.5	+	22	3303	c.2885C>G	c.(2884-2886)aCa>aGa	p.T962R	LRRC7_ENST00000415775.2_Missense_Mutation_p.T241R|LRRC7_ENST00000035383.5_Missense_Mutation_p.T957R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	957						centrosome|focal adhesion|nucleolus	protein binding	p.T957R(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						GACATTGGTACATATAAGGTG	0.403000													5	87					0	0	0.014758	0	0
FLG	2312	broad.mit.edu	37	1	152278647	152278647	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:152278647C>A	ENST00000368799.1	-	3	8750	c.8715G>T	c.(8713-8715)gaG>gaT	p.E2905D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2905	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E2905D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGACCACCTCTCAGAGTCTT	0.567000									Ichthyosis				16	476					9.78306e-22	2.23075e-21	0.144211	1	0
RBP3	5949	broad.mit.edu	37	10	48389044	48389044	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:48389044C>G	ENST00000224600.4	-	1	1947	c.1834G>C	c.(1834-1836)Gtg>Ctg	p.V612L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	612	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.V612L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCATCGGGCACCACTCCACCA	0.672000													4	52					0	0	0.014758	0	0
BCOR	54880	broad.mit.edu	37	X	39931720	39931720	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:39931720G>T	ENST00000342274.4	-	4	3241	c.2879C>A	c.(2878-2880)tCt>tAt	p.S960Y	BCOR_ENST00000397354.3_Missense_Mutation_p.S960Y|BCOR_ENST00000378455.4_Missense_Mutation_p.S960Y|BCOR_ENST00000378444.4_Missense_Mutation_p.S960Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	960					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.S960Y(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGCCAGCTTAGATGGCTTCGG	0.517000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						6	52					0.0293803	0.0322562	0.029380	1	0
NLRP12	91662	broad.mit.edu	37	19	54299180	54299180	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr19:54299180C>T	ENST00000324134.6	-	9	3199	c.3031G>A	c.(3031-3033)Ggg>Agg	p.G1011R	NLRP12_ENST00000391773.1_Missense_Mutation_p.G1012R|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000391775.3_Missense_Mutation_p.G954R|NLRP12_ENST00000351894.4_Missense_Mutation_p.G899R|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000354278.3_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1011					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.G1011R(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCTGTGTCCCCTAGGGCGTTG	0.557000													4	40					0	0	0.029380	0	0
NIPBL	25836	broad.mit.edu	37	5	36955648	36955648	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:36955648G>C	ENST00000282516.8	+	3	638	c.139G>C	c.(139-141)Gca>Cca	p.A47P	NIPBL_ENST00000448238.2_Missense_Mutation_p.A47P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	47					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.A47P(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGCACGAATAGCAGAAGAGGT	0.413000													60	172					0	0	0.139131	0	0
STK32C	282974	broad.mit.edu	37	10	134059441	134059441	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:134059441T>A	ENST00000368625.4	-	2	405	c.320A>T	c.(319-321)cAg>cTg	p.Q107L	STK32C_ENST00000368622.1_5'UTR			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	94	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.Q107L(1)|p.Q94L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCGAAGGATCTGGAAGTGGTC	0.637000													14	42					0	0	0.146539	0	0
HOXA2	3199	broad.mit.edu	37	7	27141063	27141063	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:27141063C>A	ENST00000222718.5	-	2	723	c.413G>T	c.(412-414)gGc>gTc	p.G138V		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	138						nucleus	sequence-specific DNA binding transcription factor activity	p.G138V(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						CCCGCCGCTGCCATCGGCGAT	0.542000													3	29					0.000602214	0.000759632	0.014758	1	0
FYB	2533	broad.mit.edu	37	5	39134975	39134975	+	Silent	SNP	T	T	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:39134975T>G	ENST00000351578.6	-	8	1847	c.1657A>C	c.(1657-1659)Aga>Cga	p.R553R	FYB_ENST00000505428.1_Silent_p.R553R|FYB_ENST00000512982.1_Silent_p.R553R|FYB_ENST00000540520.1_Silent_p.R563R|FYB_ENST00000515010.1_Silent_p.R553R	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	553	SH3.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.R553R(3)|p.R563R(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTTGCTGTTCTGCCCAACCAT	0.423000													14	110					0	0	0.119110	0	0
PSME4	23198	broad.mit.edu	37	2	54159167	54159167	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:54159167T>C	ENST00000404125.1	-	10	1176	c.1121A>G	c.(1120-1122)aAg>aGg	p.K374R	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	374					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.K260R(1)|p.K374R(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAGGGCTTCTTGTATCTTTC	0.418000													16	127					0	0	0.146539	0	0
ANKRD2	26287	broad.mit.edu	37	10	99341096	99341096	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:99341096G>T	ENST00000307518.5	+	6	927	c.660G>T	c.(658-660)tgG>tgT	p.W220C	ANKRD2_ENST00000370655.1_Missense_Mutation_p.W193C|ANKRD2_ENST00000298808.5_Missense_Mutation_p.W220C|ANKRD2_ENST00000455090.1_Missense_Mutation_p.W193C			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	220					muscle contraction|muscle organ development		structural constituent of muscle	p.W220C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CCATGCATTGGGCCTGCCGCG	0.527000													4	65					0.00024832	0.000330297	0.150653	1	0
PPIAL4G	644591	broad.mit.edu	37	1	143767862	143767862	+	Translation_Start_Site	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:143767862G>T	ENST00000419275.1	-	0	19					NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G						protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TGATAGTACAGGGCTCACAGC	0.458000													16	148					6.72482e-11	1.33531e-10	0.132662	1	0
HPSE2	60495	broad.mit.edu	37	10	100995383	100995383	+	Silent	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:100995383G>A	ENST00000370552.3	-	1	236	c.177C>T	c.(175-177)acC>acT	p.T59T	HPSE2_ENST00000404542.1_Silent_p.T59T|HPSE2_ENST00000370546.1_Silent_p.T59T|HPSE2_ENST00000370549.1_Silent_p.T59T	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	59					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	p.T59T(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GTAGAATCAGGGTCTTTTCCT	0.522000													22	274					0	0	0.062417	0	0
SATL1	340562	broad.mit.edu	37	X	84363147	84363147	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:84363147C>A	ENST00000509231.1	-	1	907	c.828G>T	c.(826-828)atG>atT	p.M276I	SATL1_ENST00000332921.5_Missense_Mutation_p.M89I|SATL1_ENST00000395409.3_Missense_Mutation_p.M89I			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	89	Gln-rich.						N-acetyltransferase activity	p.M276I(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TCCATTGGTTCATGTCCATTT	0.448000													19	218					1.55795e-14	3.43908e-14	0.062417	1	0
MARCH4	57574	broad.mit.edu	37	2	217124066	217124066	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:217124066C>T	ENST00000273067.4	-	4	2968	c.1202G>A	c.(1201-1203)cGa>cAa	p.R401Q		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	401						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	p.R401Q(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GACCAGCTCTCGGCTGCTGCC	0.612000													5	99					0	0	0.014758	0	0
PTF1A	256297	broad.mit.edu	37	10	23481584	23481584	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:23481584T>A	ENST00000376504.3	+	1	329	c.125T>A	c.(124-126)cTg>cAg	p.L42Q		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	42					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex		p.L42Q(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGCGATGAGCTGCTGGCGGAC	0.667000													4	39					0	0	0.150653	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912683	77912683	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:77912683G>T	ENST00000321110.1	-	2	1530	c.1235C>A	c.(1234-1236)cCc>cAc	p.P412H		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	412							nucleic acid binding|zinc ion binding	p.P412H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGGACTCTCGGGTCCATCTCC	0.527000													13	144					9.31168e-06	1.46377e-05	0.105934	1	0
BNIP3P1	319138	broad.mit.edu	37	14	28734072	28734072	+	RNA	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr14:28734072G>T	ENST00000550043.1	+	0	477																											GAGAAGGAAGGAAGTTGAAAG	0.438000													10	106					9.70103e-10	1.88127e-09	0.069234	1	0
SERPINB13	5275	broad.mit.edu	37	18	61264592	61264592	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr18:61264592C>A	ENST00000344731.5	+	8	1273	c.1171C>A	c.(1171-1173)Cct>Act	p.P391T	SERPINB13_ENST00000269489.5_Missense_Mutation_p.P339T	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	391					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.P391T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ATTTTCTTCTCCTTAAGATGA	0.403000													7	134					1.76689e-08	3.23022e-08	0.058154	1	0
ATP1A3	478	broad.mit.edu	37	19	42490070	42490070	+	Silent	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr19:42490070C>T	ENST00000545399.1	-	6	744	c.591G>A	c.(589-591)aaG>aaA	p.K197K	ATP1A3_ENST00000602133.1_Silent_p.K154K|ATP1A3_ENST00000302102.5_Silent_p.K184K|ATP1A3_ENST00000543770.1_Silent_p.K195K	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	184					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.K184K(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGTCTCCACCCTTGATCTCCA	0.642000													8	115					0	0	0.038147	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542273	133542273	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:133542273C>A	ENST00000409261.1	-	14	2484	c.2111G>T	c.(2110-2112)gGa>gTa	p.G704V	NCKAP5_ENST00000317721.6_Missense_Mutation_p.G704V|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	704							protein binding	p.G704V(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCCTTGGGTCCAGCAGGAGT	0.453000													11	190					5.16669e-11	1.03085e-10	0.080935	1	0
PLEKHO1	51177	broad.mit.edu	37	1	150129601	150129601	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:150129601A>C	ENST00000369124.4	+	5	724	c.446A>C	c.(445-447)tAt>tCt	p.Y149S	PLEKHO1_ENST00000369126.1_Intron|PLEKHO1_ENST00000025469.6_Intron|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	149	Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs).					cytoplasm|nucleus|plasma membrane		p.Y149S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGACAGCTATCTTGCCCAT	0.542000													9	86					0	0	0.058154	0	0
HDAC4	9759	broad.mit.edu	37	2	239976512	239976512	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:239976512T>A	ENST00000345617.3	-	25	3797	c.3006A>T	c.(3004-3006)gaA>gaT	p.E1002D	HDAC4_ENST00000543185.1_Missense_Mutation_p.E586D	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1002	Histone deacetylase.				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.E1002D(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)		GTAAAACCTTTTCTGGGAGAG	0.473000													12	130					0	0	0.105934	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28306829	28306829	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr21:28306829G>T	ENST00000284987.5	-	4	1766	c.1645C>A	c.(1645-1647)Ctg>Atg	p.L549M	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	549	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.L549M(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TTGCCCTGCAGGCAGATTCTC	0.507000													8	137					0.000274275	0.000359067	0.047766	1	0
CD28	940	broad.mit.edu	37	2	204591409	204591409	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:204591409G>T	ENST00000374481.3	+	2	328	c.106G>T	c.(106-108)Gtc>Ttc	p.V36F	CD28_ENST00000374478.4_Intron|CD28_ENST00000324106.7_Missense_Mutation_p.V36F|CD28_ENST00000458610.2_Missense_Mutation_p.V50F			P10747	CD28_HUMAN	CD28 molecule	36	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	p.V36F(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CGACAATGCGGTCAACCTTAG	0.433000													11	139					1.08611e-07	1.88592e-07	0.080935	1	0
NUP210L	91181	broad.mit.edu	37	1	154112395	154112395	+	Silent	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:154112395G>A	ENST00000368559.3	-	5	671	c.600C>T	c.(598-600)ccC>ccT	p.P200P	NUP210L_ENST00000271854.3_Silent_p.P200P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	200						integral to membrane		p.P200P(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATATATTGGGGGAGCATATT	0.368000													27	554					0	0	0.108266	0	0
CD97	976	broad.mit.edu	37	19	14512216	14512216	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr19:14512216G>A	ENST00000242786.5	+	10	996	c.916G>A	c.(916-918)Gat>Aat	p.D306N	CD97_ENST00000358600.3_Missense_Mutation_p.D213N|CD97_ENST00000357355.3_Missense_Mutation_p.D257N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	306					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.D306N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAAATTGGTGGATGAACTGAT	0.567000													4	31					0	0	0.150653	0	0
PDZD8	118987	broad.mit.edu	37	10	119043973	119043973	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:119043973C>A	ENST00000334464.5	-	5	2510	c.2271G>T	c.(2269-2271)ctG>ctT	p.L757L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	757					intracellular signal transduction		metal ion binding	p.L757L(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AGGGGGCTTCCAGTCTCAATT	0.423000													18	75					3.52763e-06	5.67429e-06	0.160694	1	0
SHC4	399694	broad.mit.edu	37	15	49135746	49135746	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr15:49135746G>T	ENST00000332408.4	-	10	1771	c.1343C>A	c.(1342-1344)aCc>aAc	p.T448N	SHC4_ENST00000537958.1_Missense_Mutation_p.T162N|SHC4_ENST00000396535.3_Missense_Mutation_p.T205N	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	448	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane		p.T448N(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CAATAATGAGGTATCTCGCTG	0.408000													4	124					0.00909568	0.0104274	0.150653	1	0
UBAP2	55833	broad.mit.edu	37	9	33935736	33935736	+	Silent	SNP	A	A	G	rs307652	by1000genomes	TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr9:33935736A>G	ENST00000379225.1	-	5	1392	c.969T>C	c.(967-969)ctT>ctC	p.L323L	UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000379238.1_Intron|UBAP2_ENST00000360802.1_Intron|UBAP2_ENST00000449054.1_Intron|UBAP2_ENST00000539807.1_Intron			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	0										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTTAACGAATAAGCCATTGAC	0.448000													3	43					0	0	0.115264	0	0
CLEC6A	93978	broad.mit.edu	37	12	8610547	8610547	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr12:8610547G>C	ENST00000382073.3	+	2	271	c.85G>C	c.(85-87)Gca>Cca	p.A29P		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	29					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	p.A29P(1)		breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GATTTCCATTGCACTCCTCAG	0.483000													9	64					0	0	0.047766	0	0
MIIP	60672	broad.mit.edu	37	1	12089847	12089847	+	Silent	SNP	G	G	T	rs138345116		TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:12089847G>T	ENST00000235332.4	+	7	910	c.741G>T	c.(739-741)cgG>cgT	p.R247R	MIIP_ENST00000436478.2_Silent_p.R247R|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	247	Interaction with IGFBP2.		R -> W (in dbSNP:rs2295289).					p.R247R(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GTGTCAACCGGCGCCTGTTCC	0.697000													3	28					6.4e-05	9.0979e-05	0.115264	1	0
CNGA4	1262	broad.mit.edu	37	11	6261622	6261622	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:6261622G>T	ENST00000379936.2	+	4	713	c.598G>T	c.(598-600)Gca>Tca	p.A200S	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	200					response to stimulus|sensory perception of smell		cAMP binding	p.A200S(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGGCGTGACGCATGGGTGTA	0.557000													12	157					0.00010058	0.000138214	0.093190	1	0
MORC3	23515	broad.mit.edu	37	21	37741309	37741309	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr21:37741309G>T	ENST00000400485.1	+	15	1719	c.1643G>T	c.(1642-1644)cGt>cTt	p.R548L	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	548					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.R548L(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						CTTTCTACTCGTTCCTCAATT	0.294000													7	46					8.12818e-05	0.00011244	0.029380	1	0
CAPRIN2	65981	broad.mit.edu	37	12	30879010	30879010	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr12:30879010C>A	ENST00000251071.5	-	9	2545	c.1795G>T	c.(1795-1797)Gtg>Ttg	p.V599L	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.V599L|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.V599L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.V599L|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.V266L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	599					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	p.V599L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGCTGATGCACAGGCTTAGGC	0.403000													9	80					0.000274275	0.000359067	0.047766	1	0
OR6C4	341418	broad.mit.edu	37	12	55945335	55945335	+	Nonsense_Mutation	SNP	G	G	T	rs78982301	byFrequency	TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr12:55945335G>T	ENST00000394256.2	+	1	353	c.325G>T	c.(325-327)Gag>Tag	p.E109*	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E109*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TGGAGCTACCGAGTTTTACCT	0.423000													10	147					0.00621372	0.00728444	0.058154	1	0
SEC24A	10802	broad.mit.edu	37	5	134002584	134002584	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:134002584C>T	ENST00000398844.2	+	3	925	c.637C>T	c.(637-639)Cct>Tct	p.P213S	SEC24A_ENST00000322887.4_Missense_Mutation_p.P213S	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	213	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.P213S(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATGGGCCCCCTCCAGCTGG	0.522000													9	83					0	0	0.080935	0	0
PHKA2	5256	broad.mit.edu	37	X	18972504	18972504	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:18972504G>T	ENST00000379942.4	-	2	770	c.105C>A	c.(103-105)gcC>gcA	p.A35A		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	35					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.A35A(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCTCATGGCTGGCTGACAGCA	0.552000													7	85					7.48243e-07	1.26228e-06	0.058154	1	0
TRMT2B	79979	broad.mit.edu	37	X	100291990	100291990	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:100291990C>A	ENST00000338687.7	-	5	1181	c.376G>T	c.(376-378)Gtg>Ttg	p.V126L	TRMT2B_ENST00000545398.1_Missense_Mutation_p.V171L|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372939.1_Missense_Mutation_p.V126L|TRMT2B_ENST00000372935.1_Missense_Mutation_p.V171L|TRMT2B_ENST00000372931.5_Missense_Mutation_p.V171L|TRMT2B_ENST00000372936.3_Missense_Mutation_p.V171L			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	171							tRNA (uracil-5-)-methyltransferase activity	p.V171L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TAGAACCCCACAGTCTTTGGA	0.498000													5	124					0.0215528	0.0239796	0.021553	1	0
RERGL	79785	broad.mit.edu	37	12	18237551	18237551	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr12:18237551C>A	ENST00000229002.2	-	5	441	c.235G>T	c.(235-237)Ggg>Tgg	p.G79W	RERGL_ENST00000538724.1_Missense_Mutation_p.G78W|RERGL_ENST00000536890.1_Intron|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	79	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.G79W(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						ATAACAAACCCATCTGCCCAG	0.403000													16	155					0.00074312	0.000926111	0.175082	1	0
TRPS1	7227	broad.mit.edu	37	8	116617157	116617157	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr8:116617157G>C	ENST00000395715.3	-	4	1616	c.1039C>G	c.(1039-1041)Cgc>Ggc	p.R347G	TRPS1_ENST00000519674.1_Missense_Mutation_p.R334G|TRPS1_ENST00000519076.1_Missense_Mutation_p.R288G|TRPS1_ENST00000520276.1_Missense_Mutation_p.R338G|TRPS1_ENST00000220888.5_Missense_Mutation_p.R334G	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	334					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R347G(1)|p.R334G(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AATTTACAGCGGAAATACTTG	0.413000									Langer-Giedion syndrome				9	161					0	0	0.047766	0	0
PAX4	5078	broad.mit.edu	37	7	127255550	127255550	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:127255550C>A	ENST00000341640.2	-	1	230	c.25G>T	c.(25-27)Gtg>Ttg	p.V9L	PAX4_ENST00000338516.3_Missense_Mutation_p.V17L|PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000378740.2_Missense_Mutation_p.V9L	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	17	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V9L(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGGCCATTCACAAAGAGCCCC	0.607000													4	59					0.150653	0.159493	0.150653	1	0
USP26	83844	broad.mit.edu	37	X	132159958	132159958	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:132159958C>A	ENST00000511190.1	-	6	2760	c.2291G>T	c.(2290-2292)gGc>gTc	p.G764V	USP26_ENST00000370832.1_Missense_Mutation_p.G764V|USP26_ENST00000406273.1_Missense_Mutation_p.G764V	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	764					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.G764V(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)					CCCCTGGGTGCCTGGCTTTGG	0.463000													8	218					1.06961e-07	1.87295e-07	0.038147	1	0
BRF2	55290	broad.mit.edu	37	8	37704488	37704488	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr8:37704488C>A	ENST00000220659.6	-	3	540	c.420G>T	c.(418-420)acG>acT	p.T140T	BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Silent_p.T140T	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	140					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	p.T140T(2)		breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CATACAACAGCGTGCAGATGG	0.527000													17	350					3.52763e-06	5.67429e-06	0.160694	1	0
HECW1	23072	broad.mit.edu	37	7	43531769	43531769	+	Silent	SNP	A	A	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:43531769A>G	ENST00000395891.1	+	18	3935	c.3330A>G	c.(3328-3330)tcA>tcG	p.S1110S	HECW1_ENST00000453890.1_Silent_p.S1076S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1110					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.S1089S(1)|p.S1110S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AACATGAGTCATTGCCACTGG	0.433000													9	69					0	0	0.069234	0	0
TEX13B	56156	broad.mit.edu	37	X	107224961	107224961	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:107224961C>T	ENST00000302917.1	-	2	489	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	133								p.E133K(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AGGCTGGTCTCGGTTAGCTGC	0.572000													5	135					0	0	0.021553	0	0
TMEM144	55314	broad.mit.edu	37	4	159162701	159162701	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr4:159162701T>G	ENST00000296529.6	+	11	1363	c.843T>G	c.(841-843)tgT>tgG	p.C281W	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	281						integral to membrane		p.C281W(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CTACCTGCTGTTGGTTCATAG	0.408000													27	273					0	0	0.144211	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474697	145474697	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:145474697G>T	ENST00000323397.4	+	4	2662	c.1369G>T	c.(1369-1371)Ggg>Tgg	p.G457W		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	457	Pro-rich.							p.G457W(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCTTATGCCGGGGCGCCAGG	0.642000													6	37					6.5536e-12	1.33978e-11	0.038147	1	0
NELL1	4745	broad.mit.edu	37	11	20982101	20982101	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:20982101G>T	ENST00000298925.5	+	13	1532	c.1379G>T	c.(1378-1380)tGt>tTt	p.C460F	NELL1_ENST00000325319.5_Missense_Mutation_p.C375F|NELL1_ENST00000532434.1_Missense_Mutation_p.C432F|NELL1_ENST00000357134.5_Missense_Mutation_p.C432F			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	432	EGF-like 2; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.C432F(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCTGCCTACTGTGAAGGTAAG	0.418000													5	162					3.59834e-05	5.23968e-05	0.021553	1	0
ABCC11	85320	broad.mit.edu	37	16	48210974	48210974	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr16:48210974C>A	ENST00000394747.1	-	24	3748	c.3399G>T	c.(3397-3399)caG>caT	p.Q1133H	ABCC11_ENST00000394748.1_Missense_Mutation_p.Q1133H|ABCC11_ENST00000356608.2_Missense_Mutation_p.Q1133H|ABCC11_ENST00000353782.5_Missense_Mutation_p.Q1133H|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1133						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q1133H(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GTGGCCACCCCTGGGGACAAC	0.458000													4	53					0.00909568	0.0104274	0.150653	1	0
IDS	3423	broad.mit.edu	37	X	148568624	148568624	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:148568624C>A	ENST00000340855.6	-	8	1221	c.1012G>T	c.(1012-1014)Gct>Tct	p.A338S	AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Missense_Mutation_p.A127S|IDS_ENST00000537071.1_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	338						lysosome	iduronate-2-sulfatase activity|metal ion binding	p.A338S(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCACCTAGAGCCCACCCTAGT	0.393000													4	65					0.00909568	0.0104274	0.150653	1	0
PIPSL	266971	broad.mit.edu	37	10	95720745	95720745	+	RNA	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:95720745C>A	ENST00000480546.1	-	0	552					NR_002319.2																						ACAATGAACTCATCGTCGCTG	0.493000													8	58					0.000274275	0.000359067	0.047766	1	0
GPR112	139378	broad.mit.edu	37	X	135482265	135482265	+	Silent	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:135482265A>T	ENST00000394143.1	+	21	8856	c.8565A>T	c.(8563-8565)ctA>ctT	p.L2855L	GPR112_ENST00000412101.1_Silent_p.L2650L|GPR112_ENST00000287534.4_Silent_p.L2608L|GPR112_ENST00000394141.1_Silent_p.L2650L|GPR112_ENST00000370652.1_Silent_p.L2855L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2855					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L2855L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATTTTGTCTAGTTGGTTGGG	0.338000													11	164					0	0	0.080935	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298934	125298934	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:125298934G>C	ENST00000538699.1	-	2	1054	c.974C>G	c.(973-975)tCt>tGt	p.S325C	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.S325C	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	325								p.S325C(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTGGGACTGAGAGCCCACAGC	0.627000													9	149					0	0	0.047766	0	0
NPAP1	23742	broad.mit.edu	37	15	24921956	24921956	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr15:24921956C>A	ENST00000329468.2	+	1	1416	c.942C>A	c.(940-942)agC>agA	p.S314R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S314R(1)									CTCCAAGGAGCGCTGCTCCTC	0.577000													3	54					0.115264	0.122339	0.115264	1	0
MEGF10	84466	broad.mit.edu	37	5	126792950	126792950	+	Silent	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:126792950C>T	ENST00000274473.6	+	26	3630	c.3363C>T	c.(3361-3363)tcC>tcT	p.S1121S	MEGF10_ENST00000503335.2_Silent_p.S1121S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1121	Necessary for formation of large intracellular vacuoles.|Ser-rich.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.S1121S(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACAGTTCATCCTCCCCTAAGC	0.532000													6	30					0	0	0.038147	0	0
SF3A3	10946	broad.mit.edu	37	1	38435025	38435025	+	Splice_Site	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:38435025C>A	ENST00000373019.4	-	14	2237		c.e14+1		SF3A3_ENST00000448721.2_Splice_Site	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GAATTCCTTACAGCAAAGTGT	0.448000													5	58					0.00116845	0.00144317	0.021553	1	0
CYTIP	9595	broad.mit.edu	37	2	158272583	158272583	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:158272583C>A	ENST00000264192.3	-	8	807	c.686G>T	c.(685-687)gGg>gTg	p.G229V	CYTIP_ENST00000540637.1_Missense_Mutation_p.G123V	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	229					regulation of cell adhesion	cell cortex|early endosome	protein binding	p.G229V(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGGGCCTGGCCCAGGCAGGGG	0.517000													5	89					3.59834e-05	5.23968e-05	0.021553	1	0
MAGEA8	4107	broad.mit.edu	37	X	149013858	149013858	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:149013858G>A	ENST00000535454.1	+	4	1361	c.812G>A	c.(811-813)cGc>cAc	p.R271H	MAGEA8_ENST00000542674.1_Missense_Mutation_p.R271H|MAGEA8_ENST00000286482.1_Missense_Mutation_p.R271H	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	271	MAGE.							p.R271H(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GATCCTGTGCGCTACGAGTTC	0.567000													11	239					0	0	0.105934	0	0
LILRB2	10288	broad.mit.edu	37	19	54783926	54783926	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr19:54783926G>T	ENST00000391748.1	-	4	202	c.75C>A	c.(73-75)acC>acA	p.T25T	LILRB2_ENST00000391749.4_Silent_p.T25T|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000314446.5_Silent_p.T25T|LILRB2_ENST00000391746.1_Silent_p.T25T	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	25					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTTGGGAATGGTCCCTGGAA	0.582000													11	182					4.68919e-08	8.38799e-08	0.069234	1	0
RPGR	6103	broad.mit.edu	37	X	38132700	38132700	+	Nonsense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:38132700G>C	ENST00000339363.3	-	17	2962	c.2795C>G	c.(2794-2796)tCa>tGa	p.S932*	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Nonsense_Mutation_p.S665*|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000318842.7_Nonsense_Mutation_p.S727*			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	932					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.S727*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GATTTCTAATGAACTGCTATC	0.328000													4	58					0	0	0.150653	0	0
MXRA5	25878	broad.mit.edu	37	X	3240239	3240239	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:3240239G>A	ENST00000217939.6	-	5	3641	c.3487C>T	c.(3487-3489)Cgc>Tgc	p.R1163C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1163						extracellular region		p.R1163C(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCCGGTGGCGGAATTTGTTG	0.493000													16	199					0	0	0.175082	0	0
FLNC	2318	broad.mit.edu	37	7	128493588	128493588	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:128493588G>T	ENST00000325888.8	+	38	6535	c.6274G>T	c.(6274-6276)Gag>Tag	p.E2092*	FLNC_ENST00000346177.6_Nonsense_Mutation_p.E2059*|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2092					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.E2092*(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGAGGACATGGAGGACGGGAC	0.562000													4	41					1.23904e-05	1.89742e-05	0.014758	1	0
TBC1D4	9882	broad.mit.edu	37	13	75936627	75936627	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr13:75936627C>A	ENST00000377636.3	-	2	961	c.615G>T	c.(613-615)ctG>ctT	p.L205L	TBC1D4_ENST00000377625.2_Silent_p.L205L|TBC1D4_ENST00000431480.2_Silent_p.L205L|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	205	PID 1.					cytoplasm	Rab GTPase activator activity	p.L205L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTCCACAGTACAGGACTTCGA	0.507000													35	294					9.04072e-19	2.02805e-18	0.183431	1	0
PPIL2	23759	broad.mit.edu	37	22	22035675	22035675	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr22:22035675A>G	ENST00000406385.1	+	7	443	c.383A>G	c.(382-384)tAt>tGt	p.Y128C	PPIL2_ENST00000398831.3_Missense_Mutation_p.Y128C|PPIL2_ENST00000492445.2_Missense_Mutation_p.Y128C|PPIL2_ENST00000456792.2_Missense_Mutation_p.Y107C|PPIL2_ENST00000412327.1_Missense_Mutation_p.Y128C|PPIL2_ENST00000335025.7_Missense_Mutation_p.Y128C			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	128					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	p.Y128C(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GTCTACGCCTATGAGGTGTGT	0.587000													3	44					0	0	0.115264	0	0
OR7G2	390882	broad.mit.edu	37	19	9213200	9213200	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr19:9213200G>T	ENST00000305456.2	-	1	782	c.783C>A	c.(781-783)acC>acA	p.T261T		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T261T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GAGACCCACAGGTGGAAACTG	0.478000													6	109					0.00116845	0.00144317	0.021553	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186																											GTCCAACCTGCACTCGCGTGG	0.602000													4	5					0	0	0.014758	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390208	150390208	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:150390208G>C	ENST00000223293.5	+	3	928	c.834G>C	c.(832-834)caG>caC	p.Q278H		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	278						integral to membrane	GTP binding	p.Q278H(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTGTATTCAGTTGTTTCTCA	0.363000													3	64					0	0	0.150653	0	0
GPR1	2825	broad.mit.edu	37	2	207041255	207041255	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:207041255C>A	ENST00000407325.2	-	3	1079	c.717G>T	c.(715-717)ctG>ctT	p.L239L	GPR1_ENST00000437420.1_Silent_p.L239L	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	239						integral to plasma membrane	G-protein coupled receptor activity	p.L239L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TACTGGAGATCAGGATGCTTC	0.438000													7	77					0.00307968	0.00365162	0.038147	1	0
FAM208B	54906	broad.mit.edu	37	10	5782212	5782212	+	Silent	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:5782212G>A	ENST00000328090.5	+	13	2704	c.2079G>A	c.(2077-2079)ggG>ggA	p.G693G	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	693								p.G693G(1)									CCCCAGTGGGGAAAGTCATGC	0.532000													5	168					0	0	0.014758	0	0
PYHIN1	149628	broad.mit.edu	37	1	158943507	158943507	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:158943507C>A	ENST00000368140.1	+	8	1675	c.1430C>A	c.(1429-1431)cCt>cAt	p.P477H	PYHIN1_ENST00000368138.3_Missense_Mutation_p.P468H|PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000392254.2_Intron	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	477					cell cycle	nuclear speck		p.P477H(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACTGTGGCCCCTCCTCTTTCT	0.438000													9	144					0.00448238	0.00526965	0.047766	1	0
FAM47A	158724	broad.mit.edu	37	X	34149300	34149300	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:34149300G>T	ENST00000346193.3	-	1	1147	c.1096C>A	c.(1096-1098)Cct>Act	p.P366T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	366								p.P366T(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTCTTGGGAGGCGCTAGGCGG	0.627000													3	35					0.00909568	0.0104274	0.150653	1	0
HTR2C	3358	broad.mit.edu	37	X	114141543	114141543	+	Silent	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:114141543G>A	ENST00000276198.1	+	6	1670	c.942G>A	c.(940-942)ggG>ggA	p.G314G	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.G314G	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	314					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.G314G(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AAGTCCTTGGGATTGTTTTCT	0.433000													24	290					0	0	0.076483	0	0
RANBP17	64901	broad.mit.edu	37	5	170640697	170640697	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:170640697G>T	ENST00000523189.1	+	21	2458	c.2294G>T	c.(2293-2295)tGt>tTt	p.C765F	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	765					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.C765F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGCCAACATGTACAACTCCC	0.418000			T	TRD@	ALL								26	232					2.65835e-16	5.93126e-16	0.125774	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14851650	14851650	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr18:14851650A>T	ENST00000358984.4	+	36	3530	c.3350A>T	c.(3349-3351)aAg>aTg	p.K1117M		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1202								p.K1117M(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAGGACATTAAGATTTTACAA	0.348000													4	50					0	0	0.014758	0	0
PPAP2B	8613	broad.mit.edu	37	1	56989949	56989949	+	Splice_Site	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:56989949C>A	ENST00000371250.3	-	3	1126	c.575_splice	c.e3+1	p.R192_splice		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	192					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	p.R192M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GGTGTCTCACCTGGCTTCCTG	0.512000													11	116					3.86212e-05	5.56521e-05	0.069234	1	0
EMILIN3	90187	broad.mit.edu	37	20	39992319	39992319	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr20:39992319G>T	ENST00000332312.3	-	3	665	c.473C>A	c.(472-474)cCc>cAc	p.P158H		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	158						proteinaceous extracellular matrix		p.P158H(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)				AGGGGGCCTGGGGCCTGGGTC	0.647000													4	64					0.000602214	0.000759632	0.014758	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647419	33647419	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr16:33647419C>T	ENST00000558425.1	-	2	180	c.181G>A	c.(181-183)Ggg>Agg	p.G61R																								AGTCCCTTCCCTGGAGCCTGG	0.552000													18	401					0	0	0.069288	0	0
PSG6	5675	broad.mit.edu	37	19	43414968	43414968	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr19:43414968G>T	ENST00000187910.2	-	3	535	c.470C>A	c.(469-471)cCc>cAc	p.P157H	PSG6_ENST00000402603.4_Missense_Mutation_p.P157H|PSG6_ENST00000292125.2_Missense_Mutation_p.P157H	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6									p.P157H(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GACCTCCCTGGGGTTTAAGTT	0.537000													15	221					4.7546e-09	8.7696e-09	0.146539	1	0
TBX15	6913	broad.mit.edu	37	1	119469162	119469162	+	Silent	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:119469162G>A	ENST00000369429.3	-	3	501	c.492C>T	c.(490-492)gaC>gaT	p.D164D	TBX15_ENST00000207157.3_Silent_p.D58D			Q96SF7	TBX15_HUMAN	T-box 15	164						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D58D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAGGCACAATGTCCATTGCTA	0.413000													5	79					0	0	0.014758	0	0
IGKV6-21	28906	broad.mit.edu	37	2	89459447	89459447	+	RNA	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:89459447C>A	ENST00000390256.2	-	0	193																											CTCTGACTGGCCCGGCAGGTG	0.498000													6	35					5.18039e-06	8.23702e-06	0.038147	1	0
RELN	5649	broad.mit.edu	37	7	103301849	103301849	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:103301849C>T	ENST00000424685.2	-	12	1574	c.1415G>A	c.(1414-1416)gGg>gAg	p.G472E	RELN_ENST00000343529.5_Missense_Mutation_p.G472E|RELN_ENST00000428762.1_Missense_Mutation_p.G472E			P78509	RELN_HUMAN	reelin	472					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.G472E(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTCAGGTTCCCATAACCGGT	0.443000													6	123					0	0	0.029380	0	0
OR5D18	219438	broad.mit.edu	37	11	55587432	55587432	+	Silent	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:55587432G>A	ENST00000333976.4	+	1	347	c.327G>A	c.(325-327)gtG>gtA	p.V109V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V109V(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTACCTTTGTGGTCACTGAAT	0.433000													13	344					0	0	0.105934	0	0
TBX19	9095	broad.mit.edu	37	1	168262493	168262493	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:168262493G>T	ENST00000367821.3	+	3	631	c.580G>T	c.(580-582)Gtg>Ttg	p.V194L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	194					anatomical structure morphogenesis	nucleus	DNA binding	p.V194L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GTTCATAGCCGTGACTGCCTA	0.483000													3	40					6.4e-05	9.0979e-05	0.115264	1	0
LAX1	54900	broad.mit.edu	37	1	203743207	203743207	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:203743207G>T	ENST00000442561.2	+	5	985	c.595G>T	c.(595-597)Gca>Tca	p.A199S	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.A183S	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	199					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.A199S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTCCCCACAGCAGAAGAGAT	0.478000													12	119					2.80697e-09	5.22374e-09	0.080935	1	0
E2F7	144455	broad.mit.edu	37	12	77449706	77449706	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr12:77449706C>A	ENST00000322886.7	-	3	533	c.298G>T	c.(298-300)Gac>Tac	p.D100Y	E2F7_ENST00000416496.2_Missense_Mutation_p.D100Y	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	100					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.D100Y(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TTCTCCCGGTCCCTTATATCT	0.463000													14	204					3.27435e-08	5.93387e-08	0.119110	1	0
FAM118B	79607	broad.mit.edu	37	11	126110730	126110730	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:126110730G>T	ENST00000533050.1	+	4	623	c.130G>T	c.(130-132)Gtg>Ttg	p.V44L	FAM118B_ENST00000360194.4_Missense_Mutation_p.V44L|FAM118B_ENST00000525728.1_3'UTR	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	44								p.V44L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TCGAGAACTTGTGCTAGTGAT	0.453000													38	355					1.47244e-24	3.3948e-24	0.086207	1	0
PRAMEF13	400736	broad.mit.edu	37	1	13448266	13448266	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:13448266C>A	ENST00000376132.3	-	4	1311	c.1209G>T	c.(1207-1209)ggG>ggT	p.G403G		NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN	PRAME family member 13	403								p.G403G(1)		breast(1)|large_intestine(1)|lung(3)|skin(2)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTGCTCAGCCCACTGGTGT	0.557000													9	136					1.76689e-08	3.23022e-08	0.058154	1	0
ZHX1	11244	broad.mit.edu	37	8	124266616	124266616	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr8:124266616C>A	ENST00000395571.3	-	3	2188	c.1571G>T	c.(1570-1572)aGt>aTt	p.S524I	ZHX1_ENST00000522655.1_Missense_Mutation_p.S524I|ZHX1_ENST00000297857.2_Missense_Mutation_p.S524I|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	524	Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S524I(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCACTGATTACTCTTTGAATT	0.388000													28	337					6.12954e-19	1.38248e-18	0.099896	1	0
SAMD9	54809	broad.mit.edu	37	7	92731291	92731291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:92731291C>A	ENST00000379958.2	-	3	4389	c.4120G>T	c.(4120-4122)Gaa>Taa	p.E1374*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1374						cytoplasm		p.E1374*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTGCATTGTTCTAAGAGAAAA	0.363000													18	191					2.94398e-08	5.35857e-08	0.043863	1	0
AP2S1	1175	broad.mit.edu	37	19	47342740	47342740	+	Silent	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr19:47342740G>A	ENST00000263270.6	-	3	474	c.249C>T	c.(247-249)gcC>gcT	p.A83A	AP2S1_ENST00000599990.1_Silent_p.A85A|AP2S1_ENST00000597020.1_Silent_p.A63A|AP2S1_ENST00000601498.1_Silent_p.A99A|AP2S1_ENST00000352203.4_Silent_p.A97A|AP2S1_ENST00000593442.1_Silent_p.A33A|AP2S1_ENST00000601649.1_Intron	NM_004069.3	NP_004060.2	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1 subunit	83				A -> G (in Ref. 1; CAA65782 and 2; CAA09018).	axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity	p.A83A(1)		central_nervous_system(1)|lung(1)|urinary_tract(1)	3		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)		AGTTGTGAATGGCCTCCAGGT	0.582000													6	201					0	0	0.038147	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215964	20215964	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr14:20215964C>A	ENST00000331723.1	+	1	378	c.378C>A	c.(376-378)gcC>gcA	p.A126A		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A126A(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTATGTTGCCATCTGTAACC	0.493000													6	122					3.59834e-05	5.23968e-05	0.021553	1	0
USP34	9736	broad.mit.edu	37	2	61566728	61566728	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:61566728C>G	ENST00000398571.2	-	17	2665	c.2589G>C	c.(2587-2589)ttG>ttC	p.L863F		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	863					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L863F(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTATATCCCACAACAAAGTAT	0.303000													5	71					0	0	0.014758	0	0
LINC01098	285501	broad.mit.edu	37	4	178896957	178896957	+	Splice_Site	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr4:178896957G>C	ENST00000507870.1	+	5	622		c.e5-1																p.?(2)		lung(8)|prostate(1)	9						TCTTTTCTTAGGAGAGAAGAC	0.423000													10	124					0	0	0.058154	0	0
MYBL2	4605	broad.mit.edu	37	20	42331361	42331361	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr20:42331361A>T	ENST00000217026.4	+	8	1310	c.1183A>T	c.(1183-1185)Agc>Tgc	p.S395C	MYBL2_ENST00000396863.4_Missense_Mutation_p.S371C	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	395						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S395C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CATCTCCCCCAGCACTGAAGT	0.647000													6	63					0	0	0.058154	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943738	9943738	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr16:9943738C>A	ENST00000396573.2	-	6	1512	c.1203G>T	c.(1201-1203)ccG>ccT	p.P401P	GRIN2A_ENST00000404927.2_Silent_p.P401P|GRIN2A_ENST00000562109.1_Silent_p.P401P|GRIN2A_ENST00000535259.1_Silent_p.P244P|GRIN2A_ENST00000396575.2_Silent_p.P401P|GRIN2A_ENST00000330684.3_Silent_p.P401P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	401					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P401P(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTTGTCATCCGGCTCACAGT	0.587000													6	123					3.59834e-05	5.23968e-05	0.021553	1	0
OGFR	11054	broad.mit.edu	37	20	61445049	61445049	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr20:61445049G>T	ENST00000370468.3	+	8	1360	c.1335G>T	c.(1333-1335)agG>agT	p.R445S	OGFR_ENST00000370461.1_3'UTR|OGFR_ENST00000290291.6_3'UTR			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	445					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CCTGCTGCAGGGGCTGGGGCC	0.647000													3	35					0.00024832	0.000330297	0.150653	1	0
RHO	6010	broad.mit.edu	37	3	129251250	129251250	+	Silent	SNP	C	C	A	rs143003934		TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr3:129251250C>A	ENST00000296271.3	+	3	781	c.687C>A	c.(685-687)acC>acA	p.T229T		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	229					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	p.T229T(1)		breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TCGTCTTCACCGTCAAGGAGG	0.592000													9	99					3.86212e-05	5.56521e-05	0.069234	1	0
OR51L1	119682	broad.mit.edu	37	11	5020793	5020793	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:5020793C>A	ENST00000321543.1	+	1	581	c.581C>A	c.(580-582)gCc>gAc	p.A194D		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A194D(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTACAGATGCCAGGACCAAC	0.428000													10	159					4.68919e-08	8.38799e-08	0.069234	1	0
ABCG4	64137	broad.mit.edu	37	11	119027327	119027327	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:119027327G>T	ENST00000307417.3	+	8	1228	c.864G>T	c.(862-864)ctG>ctT	p.L288L	ABCG4_ENST00000449422.2_Silent_p.L288L|ABCG4_ENST00000531739.1_Silent_p.L288L	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	288	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.L288L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCACCAACCTGATCCCCTATC	0.577000													19	123					1.50039e-11	3.03738e-11	0.062417	1	0
MUC17	140453	broad.mit.edu	37	7	100677757	100677757	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:100677757C>A	ENST00000306151.4	+	3	3124	c.3060C>A	c.(3058-3060)gcC>gcA	p.A1020A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1020	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A1020A(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACTGAAGCCAGTTCACCTC	0.527000													27	669					9.39395e-14	2.01994e-13	0.116897	1	0
PTCHD1	139411	broad.mit.edu	37	X	23412216	23412216	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:23412216A>T	ENST00000379361.4	+	3	3441	c.2581A>T	c.(2581-2583)Aat>Tat	p.N861Y		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	861					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	p.N756Y(1)|p.N861Y(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGAGAAGAAAAATCCTGAGAA	0.398000													10	187					0	0	0.058154	0	0
SLC30A10	55532	broad.mit.edu	37	1	220100448	220100448	+	Splice_Site	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:220100448C>A	ENST00000366926.3	-	2	802		c.e2-1		SLC30A10_ENST00000536446.1_Splice_Site	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10						zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	p.?(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		AAGGAATCACCTGCATTCAAA	0.338000													20	123					8.34094e-07	1.39016e-06	0.049695	1	0
ZNF479	90827	broad.mit.edu	37	7	57188064	57188064	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:57188064T>C	ENST00000331162.4	-	5	1328	c.1058A>G	c.(1057-1059)tAt>tGt	p.Y353C		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y353C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCACAGGCATAGGGTTTCTC	0.438000													12	72					0	0	0.105934	0	0
KLHL31	401265	broad.mit.edu	37	6	53519984	53519984	+	Silent	SNP	T	T	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr6:53519984T>C	ENST00000370905.3	-	2	227	c.87A>G	c.(85-87)aaA>aaG	p.K29K	KLHL31_ENST00000407079.1_Silent_p.K29K	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent			p.K29K(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AAGCATTCAGTTTGTTTAGGG	0.423000													6	88					0	0	0.021553	0	0
KIF16B	55614	broad.mit.edu	37	20	16355030	16355030	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr20:16355030C>A	ENST00000354981.2	-	20	3379	c.3222G>T	c.(3220-3222)ctG>ctT	p.L1074L	KIF16B_ENST00000408042.1_Silent_p.L1074L|KIF16B_ENST00000378003.2_Silent_p.L300L|KIF16B_ENST00000355755.3_Silent_p.L1074L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1074					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.L1074L(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTTCTGTTTCAGCTGCTGGA	0.418000													8	149					0.00448238	0.00526965	0.047766	1	0
SV2A	9900	broad.mit.edu	37	1	149885086	149885086	+	Silent	SNP	G	G	T	rs144624887		TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:149885086G>T	ENST00000369146.3	-	2	797	c.307C>A	c.(307-309)Cgg>Agg	p.R103R	SV2A_ENST00000369145.1_Silent_p.R103R	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	103					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.R103R(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GACTCTGCCCGGGGAATGCCC	0.632000													10	164					2.68362e-12	5.54081e-12	0.093190	1	0
ZDHHC9	51114	broad.mit.edu	37	X	128975899	128975899	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:128975899T>A	ENST00000357166.6	-	3	414	c.23A>T	c.(22-24)aAg>aTg	p.K8M	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.K8M	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	8						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.K8M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TGTCACCTTCTTTCTCACCAC	0.498000													10	219					0	0	0.069234	0	0
ALK	238	broad.mit.edu	37	2	29551252	29551252	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:29551252C>A	ENST00000389048.3	-	6	2284	c.1378G>T	c.(1378-1380)Gac>Tac	p.D460Y	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	460	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.D460Y(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGGGCACAGTCCTGGTGGAAG	0.612000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	77					0.0381472	0.0415514	0.038147	1	0
FERD3L	222894	broad.mit.edu	37	7	19184745	19184745	+	Nonsense_Mutation	SNP	C	C	A	rs138265739	by1000genomes	TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:19184745C>A	ENST00000275461.3	-	1	299	c.241G>T	c.(241-243)Gag>Tag	p.E81*	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	81	Poly-Glu.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E81*(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						cttccgcgctcctcttcctcc	0.617000													7	30					8.12818e-05	0.00011244	0.029380	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938086	29938086	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:29938086G>T	ENST00000378993.1	+	8	1605	c.932G>T	c.(931-933)gGg>gTg	p.G311V	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G311V	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	311	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.G311V(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GAGCATCTTGGGGAACAGGAA	0.373000													11	252					1.61879e-10	3.19904e-10	0.093190	1	0
AHNAK2	113146	broad.mit.edu	37	14	105412404	105412404	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr14:105412404G>T	ENST00000333244.5	-	7	9503	c.9384C>A	c.(9382-9384)gaC>gaA	p.D3128E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3128						nucleus		p.D3128E(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGGGACAGGTCCCCCTCCA	0.627000													17	224					2.21704e-12	4.62347e-12	0.076483	1	0
GJA10	84694	broad.mit.edu	37	6	90604267	90604267	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr6:90604267C>A	ENST00000369352.1	+	1	80	c.80C>A	c.(79-81)aCc>aAc	p.T27N		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	27					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.T27N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ATCTGGCTGACCATCCTCTTC	0.507000													19	156					1.33834e-09	2.53612e-09	0.043863	1	0
GTF3C1	2975	broad.mit.edu	37	16	27492447	27492447	+	Silent	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr16:27492447C>T	ENST00000356183.4	-	27	4164	c.4149G>A	c.(4147-4149)agG>agA	p.R1383R	GTF3C1_ENST00000561623.1_Silent_p.R1383R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1383						transcription factor TFIIIC complex	DNA binding|protein binding	p.R1383R(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGTTAGAATTCCTTAGGGCTG	0.463000													7	124					0	0	0.038147	0	0
DMD	1756	broad.mit.edu	37	X	32382758	32382758	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:32382758C>T	ENST00000357033.4	-	36	5301	c.5095G>A	c.(5095-5097)Gac>Aac	p.D1699N	DMD_ENST00000378677.2_Missense_Mutation_p.D1695N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1699	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.D1699N(1)|p.D1695N(1)|p.D1694N(1)|p.D358N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAAAGTGTGTCAGCCTGAATG	0.373000													12	249					0	0	0.080935	0	0
FAM175B	23172	broad.mit.edu	37	10	126523082	126523082	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:126523082G>T	ENST00000298492.5	+	9	835	c.790G>T	c.(790-792)Gca>Tca	p.A264S		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	264						BRISC complex	polyubiquitin binding	p.A264S(1)		NS(1)	1						ATTGCAGCAGGCAGTGTTAAG	0.473000													14	49					9.31168e-06	1.46377e-05	0.105934	1	0
ZNF23	7571	broad.mit.edu	37	16	71482488	71482488	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr16:71482488C>A	ENST00000393539.2	-	6	2253	c.1440G>T	c.(1438-1440)gaG>gaT	p.E480D	ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.E422D|ZNF23_ENST00000358700.2_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.E480D|ZNF23_ENST00000417828.1_Missense_Mutation_p.E480D|ZNF23_ENST00000428724.2_Missense_Mutation_p.E422D|RP11-510M2.10_ENST00000576258.1_RNA	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E480D(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		ATCTCCCACACTCATTACATT	0.423000													8	108					0.00307968	0.00365162	0.038147	1	0
STRN	6801	broad.mit.edu	37	2	37076763	37076763	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:37076763C>T	ENST00000263918.4	-	18	2187	c.2179G>A	c.(2179-2181)Gac>Aac	p.D727N	STRN_ENST00000379213.2_Missense_Mutation_p.D678N	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	727					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	p.D727N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ATTGAACAGTCATGACCTATA	0.308000													5	88					0	0	0.021553	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898635	112898635	+	Missense_Mutation	SNP	G	G	T	rs146199973	byFrequency	TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr9:112898635G>T	ENST00000374530.3	+	8	991	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	AKAP2_ENST00000510514.5_Missense_Mutation_p.D271Y|AKAP2_ENST00000434623.2_Missense_Mutation_p.D129Y|AKAP2_ENST00000374525.1_Missense_Mutation_p.D129Y|AKAP2_ENST00000259318.7_Missense_Mutation_p.D40Y|AKAP2_ENST00000555236.1_Missense_Mutation_p.D271Y|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.D271Y	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		40							enzyme binding	p.D271Y(1)|p.D129Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCTCCTTACTGATCACCACGA	0.498000													9	227					0.000442599	0.000570431	0.058154	1	0
APOB	338	broad.mit.edu	37	2	21233785	21233785	+	Silent	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:21233785G>A	ENST00000233242.1	-	26	6082	c.5955C>T	c.(5953-5955)acC>acT	p.T1985T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1985					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T1985T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTTAAATTGGGTCTTGAGTT	0.463000													10	141					0	0	0.058154	0	0
OR2L13	284521	broad.mit.edu	37	1	248263130	248263130	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:248263130G>T	ENST00000366478.2	+	3	790	c.453G>T	c.(451-453)ggG>ggT	p.G151G	OR2L13_ENST00000358120.2_Silent_p.G151G	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.G151G(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GGACACTGGGGTCCATCAACT	0.488000													55	363					1.67886e-27	3.89233e-27	0.139131	1	0
PLXNC1	10154	broad.mit.edu	37	12	94641809	94641809	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr12:94641809A>T	ENST00000258526.4	+	13	2768	c.2519A>T	c.(2518-2520)tAt>tTt	p.Y840F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	840					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.Y840F(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACCCTGCAGTATCGGGAGGAC	0.483000													5	110					0	0	0.014758	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904119	144904119	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:144904119C>A	ENST00000370490.1	+	1	4431	c.176C>A	c.(175-177)cCc>cAc	p.P59H	SLITRK2_ENST00000434188.2_Missense_Mutation_p.P59H|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P59H|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P59H|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P59H			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	59						integral to membrane		p.P59H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTCCAGCCCCCCCAGTAT	0.428000													8	95					0.00307968	0.00365162	0.038147	1	0
TNKS	8658	broad.mit.edu	37	8	9623218	9623218	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr8:9623218A>T	ENST00000310430.6	+	24	3490	c.3464A>T	c.(3463-3465)aAc>aTc	p.N1155I	TNKS_ENST00000518281.1_Missense_Mutation_p.N918I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1155	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.N1155I(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAAGTTGTCAACAAGAAGTTG	0.388000													6	94					0	0	0.047766	0	0
ZNF366	167465	broad.mit.edu	37	5	71756814	71756814	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:71756814C>A	ENST00000318442.5	-	2	1000	c.510G>T	c.(508-510)ctG>ctT	p.L170L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L170L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGGGCGTGGGCAGGAATGGAG	0.637000													13	107					0.000308642	0.000402787	0.132662	1	0
MKRN3	7681	broad.mit.edu	37	15	23811793	23811793	+	Silent	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr15:23811793C>T	ENST00000314520.3	+	1	1340	c.864C>T	c.(862-864)gcC>gcT	p.A288A	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_3'UTR	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	288	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A288A(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATATGAGGGCCTGCATTGAAG	0.527000													7	58					0	0	0.029380	0	0
SLC30A10	55532	broad.mit.edu	37	1	220100447	220100447	+	Splice_Site	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:220100447C>A	ENST00000366926.3	-	2	802	c.640_splice	c.e2-1	p.G214_splice	SLC30A10_ENST00000536446.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	214					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	p.?(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GAAGGAATCACCTGCATTCAA	0.333000													21	123					8.10497e-08	1.43742e-07	0.055883	1	0
IGHV2-26	28455	broad.mit.edu	37	14	106757757	106757757	+	RNA	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr14:106757757G>T	ENST00000390611.2	-	0	273																											CTGCTCTTCAGAGATGTGCTG	0.527000													7	133					8.12818e-05	0.00011244	0.029380	1	0
GH2	2689	broad.mit.edu	37	17	61958049	61958049	+	Missense_Mutation	SNP	A	A	C	rs141158489		TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr17:61958049A>C	ENST00000332800.7	-	4	672	c.539T>G	c.(538-540)tTt>tGt	p.F180C	GH2_ENST00000449787.2_Intron|GH2_ENST00000456543.2_Intron|GH2_ENST00000423893.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity	p.F180C(1)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CTGACTGCTAAAAAGAGGGCA	0.567000													10	166					0	0	0.080935	0	0
PRSS58	136541	broad.mit.edu	37	7	141955355	141955355	+	Splice_Site	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:141955355G>C	ENST00000552471.1	-	2	498	c.179_splice	c.e2+1	p.P60_splice	PRSS58_ENST00000547058.2_Splice_Site_p.P60_splice			Q8IYP2	PRS58_HUMAN	protease, serine, 58	60	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P60R(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TATCACTCACGGTAAATTGCA	0.498000													9	112					0	0	0.069234	0	0
RYR3	6263	broad.mit.edu	37	15	33926871	33926871	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr15:33926871C>A	ENST00000389232.4	+	25	3182	c.3112C>A	c.(3112-3114)Cgg>Agg	p.R1038R	RYR3_ENST00000415757.3_Silent_p.R1038R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1038	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1038R(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGACAGCCTGCGGGAAGCTGT	0.468000													7	106					0.00198382	0.00239327	0.029380	1	0
SYTL5	94122	broad.mit.edu	37	X	37965979	37965979	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:37965979G>T	ENST00000357972.5	+	11	1835	c.1289G>T	c.(1288-1290)tGc>tTc	p.C430F	SYTL5_ENST00000297875.2_Missense_Mutation_p.C430F|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.C452F			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	430	C2 1.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	p.C430F(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GTCAAGAATTGCAGAAATCTG	0.428000													5	97					0.0293803	0.0322562	0.029380	1	0
LPAR4	2846	broad.mit.edu	37	X	78010954	78010954	+	Silent	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:78010954C>G	ENST00000435339.2	+	2	993	c.588C>G	c.(586-588)gtC>gtG	p.V196V	LPAR4_ENST00000373301.2_Silent_p.V196V	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	196						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.V196V(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCAAACGTGTCTGGAAGACTT	0.413000													8	160					0	0	0.047766	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315231	22315231	+	RNA	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr14:22315231C>G	ENST00000390434.3	+	0	394																											CTGGTATGTGCAACACCCCAA	0.502000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	229					0	0	0.080935	0	0
OR51F2	119694	broad.mit.edu	37	11	4842727	4842727	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:4842727C>A	ENST00000322110.5	+	1	177	c.112C>A	c.(112-114)Cag>Aag	p.Q38K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q38K(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAAGCCACCCAGTACTGGAT	0.493000													30	428					9.39395e-14	2.01994e-13	0.116897	1	0
ZNF252P	286101	broad.mit.edu	37	8	146220548	146220548	+	RNA	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr8:146220548G>A	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						TACAACCAAGGGGAAATTTGC	0.458000													5	88					0	0	0.014758	0	0
CHSY1	22856	broad.mit.edu	37	15	101717776	101717776	+	Silent	SNP	T	T	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr15:101717776T>G	ENST00000254190.3	-	3	2701	c.2226A>C	c.(2224-2226)gtA>gtC	p.V742V	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	742					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.V742V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGACGTGGACTACTCCTACTT	0.512000													5	97					0	0	0.021553	0	0
MAP3K4	4216	broad.mit.edu	37	6	161508882	161508882	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr6:161508882G>T	ENST00000392142.4	+	10	2867	c.2719G>T	c.(2719-2721)Ggt>Tgt	p.G907C	MAP3K4_ENST00000348824.7_Missense_Mutation_p.G907C|MAP3K4_ENST00000366919.2_Missense_Mutation_p.G907C|MAP3K4_ENST00000366920.2_Missense_Mutation_p.G907C	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	907					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.G907C(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GACCAAGCACGGTGATCGAGC	0.512000													23	112					2.21704e-12	4.62347e-12	0.076483	1	0
CALML3	810	broad.mit.edu	37	10	5567336	5567336	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:5567336C>A	ENST00000315238.1	+	1	413	c.288C>A	c.(286-288)gaC>gaA	p.D96E	CALML3-AS1_ENST00000542093.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000545372.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	96	EF-hand 3.						calcium ion binding	p.D96E(1)		endometrium(3)|lung(2)	5						TCGACAAGGACGGCAACGGCT	0.652000													3	16					0.115264	0.122339	0.115264	1	0
PIWIL3	440822	broad.mit.edu	37	22	25123956	25123956	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr22:25123956A>G	ENST00000332271.5	-	16	2413	c.1997T>C	c.(1996-1998)aTa>aCa	p.I666T	PIWIL3_ENST00000527701.1_Missense_Mutation_p.I548T|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.I548T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	666	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.I666T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAATCCTGCTATTGATTTCTG	0.348000													10	98					0	0	0.093190	0	0
EBF2	64641	broad.mit.edu	37	8	25716008	25716008	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr8:25716008T>C	ENST00000520164.1	-	14	1892	c.1355A>G	c.(1354-1356)aAc>aGc	p.N452S	EBF2_ENST00000535548.1_Missense_Mutation_p.N183S|EBF2_ENST00000408929.3_Missense_Mutation_p.N304S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	452					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.N452S(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GCTGCTTGTGTTGCGGATGTA	0.522000													7	55					0	0	0.038147	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111636081	111636081	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:111636081A>G	ENST00000527614.1	-	2	207	c.142T>C	c.(142-144)Tca>Cca	p.S48P	PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.S48P|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.S48P|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.S48P	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	48							protein binding	p.S48P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GCAATTGTTGATAACTTCTTA	0.368000													12	142					0	0	0.080935	0	0
KLHL13	90293	broad.mit.edu	37	X	117079444	117079444	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:117079444G>T	ENST00000371876.1	-	1	2461	c.40C>A	c.(40-42)Cct>Act	p.P14T	KLHL13_ENST00000541812.1_Missense_Mutation_p.P49T|KLHL13_ENST00000371882.1_Missense_Mutation_p.P14T|KLHL13_ENST00000539496.1_Missense_Mutation_p.P68T|KLHL13_ENST00000469946.1_Missense_Mutation_p.P14T|KLHL13_ENST00000371878.1_Missense_Mutation_p.P14T|KLHL13_ENST00000545703.1_Missense_Mutation_p.P23T|KLHL13_ENST00000262820.3_Missense_Mutation_p.P65T|KLHL13_ENST00000540167.1_Missense_Mutation_p.P49T			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	65				K -> R (in Ref. 3; BAG54189).	cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.P65T(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATGCGTGTAGGTCCTGCCTTG	0.458000													7	126					0.00198382	0.00239327	0.029380	1	0
DSCAML1	57453	broad.mit.edu	37	11	117302317	117302317	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:117302317C>A	ENST00000321322.6	-	31	5488	c.5487G>T	c.(5485-5487)gtG>gtT	p.V1829V	DSCAML1_ENST00000527706.1_Silent_p.V1559V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1769					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.V1829V(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTGGGAGCCCACGGTGCGCC	0.647000													9	91					0.00136819	0.00168487	0.093190	1	0
OGN	4969	broad.mit.edu	37	9	95163438	95163438	+	Silent	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr9:95163438C>T	ENST00000262551.4	-	3	624	c.204G>A	c.(202-204)gaG>gaA	p.E68E	OGN_ENST00000375561.5_Silent_p.E68E|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	68						extracellular space|proteinaceous extracellular matrix	growth factor activity	p.E68E(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GAAGACTTTTCTCATTGGGTA	0.308000													9	188					0	0	0.058154	0	0
ANK2	287	broad.mit.edu	37	4	114177071	114177071	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr4:114177071C>A	ENST00000357077.4	+	11	1224	c.1171C>A	c.(1171-1173)Ccg>Acg	p.P391T	ANK2_ENST00000506722.1_Missense_Mutation_p.P370T|ANK2_ENST00000264366.6_Missense_Mutation_p.P391T|ANK2_ENST00000394537.3_Missense_Mutation_p.P391T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	391					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.P391T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGAGCCAATCCGAACGCCAG	0.493000													8	120					0.000442599	0.000570431	0.058154	1	0
OR5K1	26339	broad.mit.edu	37	3	98188903	98188903	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr3:98188903G>T	ENST00000332650.5	+	1	580	c.483G>T	c.(481-483)ggG>ggT	p.G161G		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G161G(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCATGTAGGGCTTGTATTTA	0.418000													11	375					0.00829132	0.00969267	0.069234	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399371	89399371	+	RNA	SNP	T	T	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:89399371T>G	ENST00000479981.1	-	0	358																											ATTATACTGTTGGCAGTAATA	0.512000													4	122					0	0	0.093190	0	0
CCT6B	10693	broad.mit.edu	37	17	33288403	33288403	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr17:33288403T>C	ENST00000314144.5	-	1	125	c.10A>G	c.(10-12)Ata>Gta	p.I4V	CCT6B_ENST00000436961.3_Missense_Mutation_p.I4V|CCT6B_ENST00000421975.3_Missense_Mutation_p.I4V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	4					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	p.I4V(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				ACGGCCTTTATCGCAGCCATA	0.577000													10	47					0	0	0.093190	0	0
PPEF2	5470	broad.mit.edu	37	4	76797517	76797517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr4:76797517C>A	ENST00000286719.7	-	11	1599	c.1243G>T	c.(1243-1245)Gag>Tag	p.E415*		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	415	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.E415*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGGGAGGGCTCCTCTTTCTCT	0.677000													10	67					3.07112e-06	4.97857e-06	0.080935	1	0
OR2T6	254879	broad.mit.edu	37	1	248551546	248551546	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:248551546G>T	ENST00000355728.2	+	1	637	c.637G>T	c.(637-639)Gtg>Ttg	p.V213L		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V213L(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCCTTCTCGGTGGTGACTGC	0.532000													14	102					2.32078e-09	4.37784e-09	0.132662	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187712504	187712504	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:187712504G>T	ENST00000295131.2	-	2	223	c.184C>A	c.(184-186)Cac>Aac	p.H62N		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	62					apoptosis		zinc ion binding	p.H62N(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTACAAACGTGAGGATTTCCT	0.343000													5	135					0.014758	0.0166882	0.014758	1	0
DSC1	1823	broad.mit.edu	37	18	28737519	28737519	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr18:28737519G>T	ENST00000257197.3	-	3	427	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.L56I	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	56					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.L56I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCCGACTTGAGACACTCCTCC	0.448000													9	88					2.17888e-05	3.30012e-05	0.058154	1	0
ACYP2	98	broad.mit.edu	37	2	54365795	54365795	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:54365795G>C	ENST00000406041.1	+	3	391	c.179G>C	c.(178-180)aGg>aCg	p.R60T	ACYP2_ENST00000606865.1_Missense_Mutation_p.R16T|ACYP2_ENST00000394666.3_Missense_Mutation_p.R32T|ACYP2_ENST00000607452.1_Missense_Mutation_p.R105T|ACYP2_ENST00000303536.4_Missense_Mutation_p.R60T			P14621	ACYP2_HUMAN	acylphosphatase 2, muscle type	32	Acylphosphatase-like.				phosphate metabolic process		acylphosphatase activity	p.R32T(1)		lung(1)	1						GATGAAGCTAGGAAAATAGGA	0.408000													6	59					0	0	0.021553	0	0
PRPF8	10594	broad.mit.edu	37	17	1579293	1579293	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr17:1579293C>A	ENST00000572621.1	-	17	2873	c.2608G>T	c.(2608-2610)Gcc>Tcc	p.A870S	PRPF8_ENST00000304992.6_Missense_Mutation_p.A870S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	870						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.A870S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTATCGTAGGCCTGCTCGATC	0.532000													7	58					8.12818e-05	0.00011244	0.029380	1	0
GLI2	2736	broad.mit.edu	37	2	121743871	121743871	+	Silent	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:121743871C>T	ENST00000452319.1	+	13	2034	c.1974C>T	c.(1972-1974)ccC>ccT	p.P658P	GLI2_ENST00000314490.11_Silent_p.P330P|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.P658P			P10070	GLI2_HUMAN	GLI family zinc finger 2	658					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P658P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGTCCAGCCCCGGGGCCCAGT	0.667000													4	29					0	0	0.014758	0	0
TRIM51	84767	broad.mit.edu	37	11	55659052	55659052	+	Missense_Mutation	SNP	C	C	A	rs148245438	byFrequency	TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:55659052C>A	ENST00000449290.2	+	7	1395	c.1303C>A	c.(1303-1305)Ccc>Acc	p.P435T	TRIM51_ENST00000244891.3_Missense_Mutation_p.P292T	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	435	B30.2/SPRY.					intracellular	zinc ion binding	p.P435T(1)|p.P276T(1)									ATACACCATCCCCAATTGCTC	0.458000													15	230					0.000422831	0.00054836	0.146539	1	0
NPR3	4883	broad.mit.edu	37	5	32786366	32786366	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:32786366G>T	ENST00000265074.8	+	8	1884	c.1541G>T	c.(1540-1542)aGg>aTg	p.R514M	NPR3_ENST00000415167.2_Missense_Mutation_p.R513M|NPR3_ENST00000434067.2_Missense_Mutation_p.R298M|NPR3_ENST00000415685.2_Missense_Mutation_p.R297M	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	514					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.R514M(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ACCATTGAGAGGCGAACCCAG	0.418000													6	12					0.00198382	0.00239327	0.029380	1	0
BUB1	699	broad.mit.edu	37	2	111398671	111398671	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:111398671C>A	ENST00000535254.1	-	22	2902	c.2835G>T	c.(2833-2835)aaG>aaT	p.K945N	BUB1_ENST00000409311.1_Missense_Mutation_p.K908N|BUB1_ENST00000302759.6_Missense_Mutation_p.K965N	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	965	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.K965N(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATGTTTCACACTTTGCTGTGA	0.383000													19	171					1.56452e-12	3.29582e-12	0.043863	1	0
KDR	3791	broad.mit.edu	37	4	55953774	55953774	+	Splice_Site	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr4:55953774C>A	ENST00000263923.4	-	27	3957	c.3662_splice	c.e27+1	p.S1221_splice	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1221					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.S1221I(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TATACAGTACCTGATTCCTGC	0.522000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			6	60					0.0215528	0.0239796	0.021553	1	0
CLEC1B	51266	broad.mit.edu	37	12	10149523	10149523	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr12:10149523G>T	ENST00000428126.2	-	5	530	c.261C>A	c.(259-261)aaC>aaA	p.N87K	CLEC1B_ENST00000298527.6_Missense_Mutation_p.N120K|CLEC1B_ENST00000348658.4_Missense_Mutation_p.N87K			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	120					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	p.N120K(1)|p.N24K(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CCCATGTTAAGTTGTGCCTGA	0.433000													29	214					9.39395e-14	2.01994e-13	0.116897	1	0
OR1C1	26188	broad.mit.edu	37	1	247921475	247921475	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:247921475G>T	ENST00000408896.2	-	1	507	c.234C>A	c.(232-234)gtC>gtA	p.V78V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V78V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CCATTTGGGGGACTGTAGTCG	0.453000													8	52					5.18039e-06	8.23702e-06	0.038147	1	0
OR5L1	219437	broad.mit.edu	37	11	55579402	55579402	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:55579402G>T	ENST00000333973.2	+	1	549	c.460G>T	c.(460-462)Gtg>Ttg	p.V154L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V154L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTGTGGGACGGTGTGTTCTCT	0.458000													25	206					4.59853e-10	8.95957e-10	0.108266	1	0
ALG13	79868	broad.mit.edu	37	X	110925492	110925492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:110925492C>T	ENST00000394780.3	+	2	226	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	ALG13_ENST00000371979.3_Nonsense_Mutation_p.Q72*|ALG13_ENST00000251943.4_5'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	72					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	p.Q72*(2)		endometrium(2)|lung(10)|skin(1)	13						AGAAGACATTCAGAAAGCAGA	0.403000													9	238					0	0	0.058154	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705565	41705565	+	Silent	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr13:41705565T>A	ENST00000379485.1	-	1	1317	c.1083A>T	c.(1081-1083)ccA>ccT	p.P361P	KBTBD6_ENST00000499385.2_Silent_p.P295P	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	361							protein binding	p.P361P(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCCCCGAGTATGGATCACAGC	0.507000													9	143					0	0	0.069234	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306540	61306540	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr18:61306540T>A	ENST00000341074.5	-	7	762	c.647A>T	c.(646-648)tAc>tTc	p.Y216F	SERPINB4_ENST00000356424.6_Intron	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.Y216F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AAAGGAATTGTATTGCCTCAT	0.363000													4	82					0	0	0.150653	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106117037	106117037	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:106117037T>A	ENST00000357242.5	+	21	3379	c.3205T>A	c.(3205-3207)Ttt>Att	p.F1069I	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.F1063I	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1069						intracellular	calcium ion binding|Rab GTPase activator activity	p.F1069I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCCTTGTTCCTTTAGGGAGGA	0.458000													7	204					0	0	0.029380	0	0
NXF5	55998	broad.mit.edu	37	X	101096677	101096677	+	Missense_Mutation	SNP	C	C	T	rs145492861		TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:101096677C>T	ENST00000537026.1	-	5	568	c.209G>A	c.(208-210)aGt>aAt	p.S70N	NXF5_ENST00000361708.2_Missense_Mutation_p.S70N|NXF5_ENST00000473265.2_Missense_Mutation_p.S70N	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	70	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.S70N(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						AATCTTATAACTGACATCCTT	0.488000													6	203					0	0	0.038147	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232577115	232577115	+	Silent	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:232577115G>A	ENST00000366630.1	-	13	3922	c.3564C>T	c.(3562-3564)tcC>tcT	p.S1188S	SIPA1L2_ENST00000262861.4_Silent_p.S1188S|SIPA1L2_ENST00000308942.4_Silent_p.S262S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1188					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.S1188S(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCAGGACTTTGGAAGGTGGGC	0.413000													25	419					0	0	0.099896	0	0
SNHG14	104472715	broad.mit.edu	37	15	25334042	25334042	+	RNA	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr15:25334042C>G	ENST00000546682.1	+	0	586				SNHG14_ENST00000553108.1_RNA|SNORD116-21_ENST00000384507.1_lincRNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						AACTGAGGTCCAGCACATTAC	0.463000													12	212					0	0	0.105934	0	0
DNAJC12	56521	broad.mit.edu	37	10	69565369	69565369	+	Silent	SNP	T	T	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:69565369T>C	ENST00000225171.2	-	4	626	c.474A>G	c.(472-474)tcA>tcG	p.S158S	DNAJC12_ENST00000483798.2_Silent_p.S188S	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	158					protein folding		heat shock protein binding|unfolded protein binding	p.S158S(1)		breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						GCGGGGAGACTGACTTCTCTA	0.393000													49	596					0	0	0.139131	0	0
CYP3A43	64816	broad.mit.edu	37	7	99445237	99445237	+	Translation_Start_Site	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:99445237G>A	ENST00000342499.4	+	0	324				CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000312017.5_Intron|CYP3A43_ENST00000354829.2_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000222382.5_Intron			Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AAGAAAATAAGGTGATTTATA	0.353000													12	147					0	0	0.105934	0	0
NID2	22795	broad.mit.edu	37	14	52508829	52508829	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr14:52508829G>A	ENST00000216286.5	-	7	1818	c.1819C>T	c.(1819-1821)Ctc>Ttc	p.L607F	NID2_ENST00000541773.1_Missense_Mutation_p.L554F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	607	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.L607F(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCACCTGCGAGGCTGAAGCCG	0.577000													4	120					0	0	0.014758	0	0
FAM78B	149297	broad.mit.edu	37	1	166039567	166039567	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:166039567C>T	ENST00000338353.3	-	3	1286	c.697G>A	c.(697-699)Gca>Aca	p.A233T	FAM78B_ENST00000354422.3_Missense_Mutation_p.A233T			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	233								p.A233T(1)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TTCACTAGTGCATTAGGGGGG	0.627000													5	138					0	0	0.014758	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911404	101911404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:101911404G>T	ENST00000537097.1	+	6	3376	c.2563G>T	c.(2563-2565)Gag>Tag	p.E855*	GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.E855*|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.E855*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.E855*	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	855	Glu-rich.					cytoplasm	protein binding	p.E855*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGCCAGTCCGGAGGCAGTGGC	0.517000													8	144					0.000274275	0.000359067	0.047766	1	0
TLR4	7099	broad.mit.edu	37	9	120475650	120475650	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr9:120475650G>T	ENST00000355622.6	+	3	1345	c.1244G>T	c.(1243-1245)aGt>aTt	p.S415I	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S375I	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	415					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.S415I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATTACCATGAGTTCAAACTTC	0.373000													13	164					7.93312e-07	1.32752e-06	0.119110	1	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057462	46057462	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr21:46057462C>A	ENST00000380095.1	+	1	190	c.128C>A	c.(127-129)aCc>aAc	p.T43N	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	43	15 X 5 AA repeats of C-C-X(3).					keratin filament		p.T43N(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGGTCTGCACCCCAGTGAGC	0.662000													3	41					3.59834e-05	5.23968e-05	0.021553	1	0
LDHA	3939	broad.mit.edu	37	11	18424404	18424404	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:18424404G>T	ENST00000422447.3	+	5	709	c.436G>T	c.(436-438)Gtg>Ttg	p.V146L	LDHA_ENST00000430553.2_Missense_Mutation_p.V88L|LDHA_ENST00000542179.1_Missense_Mutation_p.V146L|LDHA_ENST00000540430.1_Missense_Mutation_p.V175L|LDHA_ENST00000396222.2_Missense_Mutation_p.V146L|LDHA_ENST00000227157.4_Missense_Mutation_p.V146L|LDHA_ENST00000379412.5_Missense_Mutation_p.V146L	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	146					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	p.V146L(2)|p.V175L(1)		central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	CTTGACCTACGTGGCTTGGAA	0.413000													6	136					0.000157383	0.000212059	0.038147	1	0
PCDH15	65217	broad.mit.edu	37	10	55996679	55996679	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:55996679G>T	ENST00000373965.2	-	9	1283	c.889C>A	c.(889-891)Ccc>Acc	p.P297T	PCDH15_ENST00000361849.3_Missense_Mutation_p.P297T|PCDH15_ENST00000395446.1_Missense_Mutation_p.P297T|PCDH15_ENST00000414778.1_Missense_Mutation_p.P302T|PCDH15_ENST00000395432.2_Missense_Mutation_p.P260T|PCDH15_ENST00000395430.1_Missense_Mutation_p.P297T|PCDH15_ENST00000373955.1_Missense_Mutation_p.P297T|PCDH15_ENST00000395433.1_Missense_Mutation_p.P275T|PCDH15_ENST00000437009.1_Missense_Mutation_p.P297T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P297T|PCDH15_ENST00000395440.1_Missense_Mutation_p.P297T|PCDH15_ENST00000395438.1_Missense_Mutation_p.P297T|PCDH15_ENST00000320301.6_Missense_Mutation_p.P297T|PCDH15_ENST00000373957.3_Missense_Mutation_p.P275T|PCDH15_ENST00000395442.1_Missense_Mutation_p.P297T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	297	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P297T(2)|p.P302T(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAATAATGGGGTTCAGTTCT	0.398000										HNSCC(58;0.16)			16	200					0.000422831	0.00054836	0.146539	1	0
MYO3A	53904	broad.mit.edu	37	10	26357725	26357725	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:26357725G>T	ENST00000265944.5	+	12	1248	c.1082G>T	c.(1081-1083)tGt>tTt	p.C361F	MYO3A_ENST00000543632.1_Missense_Mutation_p.C361F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	361	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.C361F(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTTGAGAAGTGTTATTCCAGA	0.343000													5	163					0.0293803	0.0322562	0.029380	1	0
SPHKAP	80309	broad.mit.edu	37	2	228882479	228882479	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:228882479C>A	ENST00000392056.3	-	7	3137	c.3091G>T	c.(3091-3093)Gtc>Ttc	p.V1031F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V1031F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1031						cytoplasm	protein binding	p.V1031F(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)		GAATCTGGGACATCTTCAAGG	0.507000													13	187					1.05317e-09	2.02345e-09	0.119110	1	0
HTR2C	3358	broad.mit.edu	37	X	114141513	114141513	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:114141513C>A	ENST00000276198.1	+	6	1640	c.912C>A	c.(910-912)aaC>aaA	p.N304K	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.N304K	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	304					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.N304K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AGGCTATCAACAATGAAAGAA	0.458000													23	254					2.89027e-11	5.7945e-11	0.069288	1	0
UBE2D3	7323	broad.mit.edu	37	4	103723775	103723775	+	Silent	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr4:103723775G>A	ENST00000453744.2	-	5	654	c.141C>T	c.(139-141)ggC>ggT	p.G47G	UBE2D3_ENST00000394801.4_Silent_p.G47G|UBE2D3_ENST00000349311.8_Silent_p.G47G|UBE2D3_ENST00000343106.5_Silent_p.G47G|UBE2D3_ENST00000394804.2_Silent_p.G47G|UBE2D3_ENST00000504211.1_Silent_p.G18G|UBE2D3_ENST00000321805.7_Silent_p.G47G|UBE2D3_ENST00000350435.7_Silent_p.G41G|UBE2D3_ENST00000505207.1_Silent_p.G18G|UBE2D3_ENST00000507845.1_Silent_p.G18G|UBE2D3_ENST00000394803.5_Silent_p.G47G|UBE2D3_ENST00000502404.1_Silent_p.G18G|UBE2D3_ENST00000338145.3_Silent_p.G47G|UBE2D3_ENST00000357194.6_Silent_p.G49G	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	47					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity	p.G49G(1)|p.G47G(1)		kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		AGAATACACCGCCTTGATATG	0.323000													6	133					0	0	0.021553	0	0
KPNB1	3837	broad.mit.edu	37	17	45752095	45752095	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr17:45752095G>C	ENST00000290158.4	+	15	2266	c.1859G>C	c.(1858-1860)gGg>gCg	p.G620A	KPNB1_ENST00000540627.1_Missense_Mutation_p.G475A|KPNB1_ENST00000537679.1_Missense_Mutation_p.G404A|KPNB1_ENST00000535458.2_Missense_Mutation_p.G475A	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	620					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	p.G620A(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AGCACAGCTGGGTCTGGGGGA	0.483000													12	180					0	0	0.080935	0	0
RELN	5649	broad.mit.edu	37	7	103214661	103214661	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:103214661G>T	ENST00000424685.2	-	30	4548	c.4389C>A	c.(4387-4389)taC>taA	p.Y1463*	RELN_ENST00000343529.5_Nonsense_Mutation_p.Y1463*|RELN_ENST00000428762.1_Nonsense_Mutation_p.Y1463*			P78509	RELN_HUMAN	reelin	1463					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.Y1463*(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGTTATCTTGTACCACAGAG	0.498000													5	142					2.0095e-06	3.30929e-06	0.029380	1	0
RHOBTB1	9886	broad.mit.edu	37	10	62632019	62632019	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:62632019C>A	ENST00000337910.5	-	10	2182	c.1845G>T	c.(1843-1845)tgG>tgT	p.W615C	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.W615C	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	615					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.W615C(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GGTGCAAACACCAGGCGGCCA	0.473000													9	104					0.00448238	0.00526965	0.047766	1	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	40					0	0	0.150653	0	0
PDE2A	5138	broad.mit.edu	37	11	72297215	72297215	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:72297215C>A	ENST00000334456.5	-	14	1326	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*	PDE2A_ENST00000544570.1_Nonsense_Mutation_p.E354*|PDE2A_ENST00000444035.2_Nonsense_Mutation_p.E352*|PDE2A_ENST00000418754.2_Nonsense_Mutation_p.E246*|PDE2A_ENST00000376450.3_Nonsense_Mutation_p.E105*|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000540345.1_Nonsense_Mutation_p.E352*	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	361	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E361*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TGCTCGTCCTCGTCGGTGAAC	0.577000											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	28					0.115264	0.122339	0.115264	1	0
DYTN	391475	broad.mit.edu	37	2	207564941	207564941	+	Splice_Site	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:207564941C>A	ENST00000452335.2	-	6	600		c.e6-1		DYTN_ENST00000477734.1_Splice_Site	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin							plasma membrane	zinc ion binding	p.?(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AAGTTGGGATCTGCAAGAGAC	0.552000													7	90					2.0095e-06	3.30929e-06	0.029380	1	0
CFAP54	144535	broad.mit.edu	37	12	97114182	97114182	+	Splice_Site	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr12:97114182G>T	ENST00000524981.3	+	17	2157		c.e17-1					Q6ZTY8	CL063_HUMAN										p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CCTTTCCTTAGTCGATGTTAC	0.423000													6	70					4.68919e-08	8.38799e-08	0.069234	1	0
TARBP1	6894	broad.mit.edu	37	1	234565957	234565957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:234565957G>A	ENST00000040877.1	-	15	2484	c.2485C>T	c.(2485-2487)Cag>Tag	p.Q829*		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	829					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.Q829*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GAGTCCAGCTGCAGCTCAGGC	0.552000													23	152					0	0	0.069288	0	0
GPC4	2239	broad.mit.edu	37	X	132438835	132438835	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:132438835G>T	ENST00000370828.3	-	7	1734	c.1210C>A	c.(1210-1212)Ccg>Acg	p.P404T	GPC4_ENST00000535467.1_Missense_Mutation_p.P334T	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	404					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P404T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ACGTTGCTCGGAAGGGAGGAC	0.428000													16	232					1.99824e-07	3.45528e-07	0.160694	1	0
APOB	338	broad.mit.edu	37	2	21229397	21229397	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:21229397G>T	ENST00000233242.1	-	26	10470	c.10343C>A	c.(10342-10344)aCc>aAc	p.T3448N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3448	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T3448N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTTGACTTGGTATTTCCATT	0.378000													22	302					4.54149e-19	1.0299e-18	0.069288	1	0
POU6F2	11281	broad.mit.edu	37	7	39247049	39247049	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:39247049C>A	ENST00000518318.2	+	4	383	c.341C>A	c.(340-342)cCc>cAc	p.P114H	POU6F2_ENST00000559001.1_Missense_Mutation_p.P106H|POU6F2_ENST00000403058.1_Missense_Mutation_p.P114H|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	114					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P114H(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCGGGAGGCCCCCCAGCCCTC	0.582000													10	94					6.31663e-08	1.12506e-07	0.132662	1	0
SPTBN1	6711	broad.mit.edu	37	2	54839363	54839363	+	Silent	SNP	C	C	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:54839363C>T	ENST00000333896.5	+	3	712	c.327C>T	c.(325-327)ttC>ttT	p.F109F	SPTBN1_ENST00000356805.4_Silent_p.F122F	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	122	Actin-binding.|CH 1.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.F109F(1)|p.F122F(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCCTTCAGTTCCTGAAGGAGC	0.537000													7	141					0	0	0.029380	0	0
DUSP21	63904	broad.mit.edu	37	X	44703492	44703492	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:44703492C>G	ENST00000339042.4	+	1	244	c.114C>G	c.(112-114)aaC>aaG	p.N38K		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	38	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.N38K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TGGCCGCCAACGACAAACTCC	0.512000													8	97					0	0	0.058154	0	0
RGPD4	285190	broad.mit.edu	37	2	108488728	108488728	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:108488728C>G	ENST00000408999.3	+	20	4345	c.4268C>G	c.(4267-4269)aCa>aGa	p.T1423R	RGPD4_ENST00000354986.4_Missense_Mutation_p.T1423R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1423	RanBD1 2.				intracellular transport		binding	p.T1423R(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATGAAAGGGACAGAAAGAGTA	0.388000													55	467					0	0	0.139131	0	0
EXTL3	2137	broad.mit.edu	37	8	28573840	28573840	+	Silent	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr8:28573840G>T	ENST00000220562.4	+	3	1166	c.264G>T	c.(262-264)tcG>tcT	p.S88S	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	88						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.S88S(2)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCCGGGAGTCGGTGAGTGAAG	0.582000													5	38					1.23904e-05	1.89742e-05	0.014758	1	0
ROR2	4920	broad.mit.edu	37	9	94486066	94486066	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr9:94486066C>A	ENST00000375708.3	-	9	2908	c.2710G>T	c.(2710-2712)Ggg>Tgg	p.G904W	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	904					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.G904W(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTCTGGGCCCCATCTTCTGGG	0.637000													11	135					4.3838e-07	7.45605e-07	0.105934	1	0
KCNU1	157855	broad.mit.edu	37	8	36768544	36768544	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr8:36768544C>A	ENST00000399881.3	+	22	2465	c.2428C>A	c.(2428-2430)Cag>Aag	p.Q810K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	810						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.Q810K(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATCAAGCAACCAGACTTTGGT	0.532000													8	50					0.0809354	0.087242	0.080935	1	0
FZD10	11211	broad.mit.edu	37	12	130648340	130648340	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr12:130648340G>T	ENST00000539839.1	+	1	1337	c.755G>T	c.(754-756)cGc>cTc	p.R252L	FZD10_ENST00000229030.4_Missense_Mutation_p.A285S	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A285S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTTCGCCGGCGCCGAGAGCAT	0.657000													4	51					0.0293803	0.0322562	0.029380	1	0
SLITRK4	139065	broad.mit.edu	37	X	142717341	142717341	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:142717341C>A	ENST00000381779.4	-	2	1809	c.1584G>T	c.(1582-1584)ttG>ttT	p.L528F	SLITRK4_ENST00000356928.1_Missense_Mutation_p.L528F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.L528F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	528						integral to membrane		p.L528F(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGCCCTCCAAGTCAATCT	0.478000													11	274					3.07112e-06	4.97857e-06	0.080935	1	0
FAM169A	26049	broad.mit.edu	37	5	74100403	74100403	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:74100403G>T	ENST00000389156.4	-	8	917	c.827C>A	c.(826-828)cCt>cAt	p.P276H	FAM169A_ENST00000510496.1_Missense_Mutation_p.P216H|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	276								p.P276H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TCCAGACATAGGTCTTTTAGG	0.368000													10	140					2.27111e-07	3.91083e-07	0.093190	1	0
CSMD1	64478	broad.mit.edu	37	8	2855612	2855612	+	Silent	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr8:2855612C>A	ENST00000602557.1	-	55	8856	c.8301G>T	c.(8299-8301)acG>acT	p.T2767T	CSMD1_ENST00000602723.1_Silent_p.T2709T|CSMD1_ENST00000400186.3_Silent_p.T2709T|CSMD1_ENST00000520002.1_Silent_p.T2767T|CSMD1_ENST00000542608.1_Silent_p.T2708T|CSMD1_ENST00000537824.1_Silent_p.T2766T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2767	Sushi 19.					integral to membrane		p.T2766T(1)|p.T2495T(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAAATAGCCCGTGTTGCAGG	0.557000													5	70					0.000602214	0.000759632	0.014758	1	0
OR2L8	391190	broad.mit.edu	37	1	248112412	248112412	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:248112412C>G	ENST00000357191.3	+	1	253	c.253C>G	c.(253-255)Ctg>Gtg	p.L85V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L85V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATCTGATTTTCTGCATGGAAA	0.453000													73	520					0	0	0.139131	0	0
PTPRT	11122	broad.mit.edu	37	20	40748573	40748573	+	Splice_Site	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr20:40748573A>T	ENST00000373198.3	-	21	3186		c.e21+1		PTPRT_ENST00000373190.1_Splice_Site|PTPRT_ENST00000373193.3_Splice_Site|PTPRT_ENST00000373187.1_Splice_Site|PTPRT_ENST00000373201.1_Splice_Site|PTPRT_ENST00000356100.2_Splice_Site|PTPRT_ENST00000373184.1_Splice_Site	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.?(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAGGGCACTTACCTTGAGTCG	0.512000													14	172					0	0	0.132662	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128890485	128890485	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:128890485C>A	ENST00000371106.3	+	14	1513	c.1321C>A	c.(1321-1323)Ctg>Atg	p.L441M		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	441					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	p.L441M(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GAACCGCAAGCTGTCCTCAGA	0.597000													8	119					2.17888e-05	3.30012e-05	0.058154	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85450741	85450741	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr12:85450741A>T	ENST00000393217.2	+	8	2231	c.2170A>T	c.(2170-2172)Agc>Tgc	p.S724C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	724								p.S724C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGAACCTGATAGCATGACCTG	0.353000													23	579					0	0	0.083992	0	0
MFAP3L	9848	broad.mit.edu	37	4	170912688	170912688	+	Silent	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr4:170912688T>A	ENST00000361618.3	-	3	1378	c.1071A>T	c.(1069-1071)gcA>gcT	p.A357A	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.A254A	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	357						integral to membrane|plasma membrane		p.A357A(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TAGAAGGTTCTGCAGTTTCGG	0.507000													9	136					0	0	0.047766	0	0
ATP2B3	492	broad.mit.edu	37	X	152807850	152807850	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:152807850C>G	ENST00000370186.1	+	5	1060	c.734C>G	c.(733-735)aCg>aGg	p.T245R	ATP2B3_ENST00000263519.4_Missense_Mutation_p.T245R|ATP2B3_ENST00000393842.1_Missense_Mutation_p.T245R|ATP2B3_ENST00000370181.2_Missense_Mutation_p.T245R|ATP2B3_ENST00000349466.2_Missense_Mutation_p.T245R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T245R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	245					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.T245R(4)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTCCCTGACGGGCGAGTCT	0.647000													6	58					0	0	0.021553	0	0
XKR7	343702	broad.mit.edu	37	20	30584922	30584922	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr20:30584922G>T	ENST00000217299.3	+	3	1576	c.1402G>T	c.(1402-1404)Gcc>Tcc	p.A468S		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	468						integral to membrane		p.A468T(1)|p.A468S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACCCGCTGACGCCATCACGAG	0.667000													4	46					0.014758	0.0166882	0.014758	1	0
ATG4A	115201	broad.mit.edu	37	X	107377577	107377577	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:107377577G>T	ENST00000372232.3	+	6	562	c.403G>T	c.(403-405)Ggt>Tgt	p.G135C	ATG4A_ENST00000372254.3_Missense_Mutation_p.G111C|ATG4A_ENST00000345734.3_Missense_Mutation_p.G135C|ATG4A_ENST00000545696.1_Missense_Mutation_p.G58C	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	135					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	p.G135C(2)		endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						AGCACAAATGGGTGTAGGAGA	0.338000													8	92					3.86212e-05	5.56521e-05	0.069234	1	0
SLC9B1	150159	broad.mit.edu	37	4	103910990	103910990	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr4:103910990G>C	ENST00000296422.7	-	3	319	c.178C>G	c.(178-180)Cta>Gta	p.L60V	SLC9B1_ENST00000394789.3_Missense_Mutation_p.L60V	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	60						integral to membrane	solute:hydrogen antiporter activity	p.L60V(1)									ACTCCTCTTAGAGGACAAGAA	0.284000													11	53					0	0	0.069234	0	0
KCNH5	27133	broad.mit.edu	37	14	63416780	63416780	+	Silent	SNP	T	T	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr14:63416780T>C	ENST00000394964.2	-	7	1604	c.1266A>G	c.(1264-1266)ggA>ggG	p.G422G	KCNH5_ENST00000322893.7_Intron|KCNH5_ENST00000394968.1_Intron|KCNH5_ENST00000420622.2_Intron			Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	0					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCGTTTTCATCCTATCTGAG	0.279000													4	39					0	0	0.150653	0	0
C3P1	388503	broad.mit.edu	37	19	10157824	10157824	+	RNA	SNP	T	T	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr19:10157824T>A	ENST00000495140.1	+	0	1140																		p.V32E(1)		endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CCCATCTCTGTGAAGGTGCCA	0.537000													49	631					0	0	0.139131	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	26					1.23904e-05	1.89742e-05	0.014758	1	0
CHST1	8534	broad.mit.edu	37	11	45671882	45671882	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:45671882G>T	ENST00000308064.2	-	4	1262	c.592C>A	c.(592-594)Cgc>Agc	p.R198S		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	198					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.R198S(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CTGCGCTCGCGGCACGCCTCG	0.682000													4	18					1.024e-07	1.80068e-07	0.014758	1	0
TRPV2	51393	broad.mit.edu	37	17	16326965	16326965	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr17:16326965T>C	ENST00000338560.7	+	5	1207	c.808T>C	c.(808-810)Tat>Cat	p.Y270H	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	270	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	p.Y270H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GACCAGCATGTATGATGGGCT	0.602000													7	67					0	0	0.029380	0	0
TARS	6897	broad.mit.edu	37	5	33445440	33445440	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:33445440G>T	ENST00000265112.3	+	2	379	c.68G>T	c.(67-69)gGt>gTt	p.G23V	TARS_ENST00000502553.1_Missense_Mutation_p.G23V|TARS_ENST00000414361.2_5'UTR|TARS_ENST00000541634.1_5'UTR|TARS_ENST00000455217.2_Missense_Mutation_p.G23V	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	23					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.G23V(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	ATTGGTGCTGGTGAAGAGAAG	0.398000													6	25					0.0215528	0.0239796	0.021553	1	0
MARCH6	10299	broad.mit.edu	37	5	10410252	10410252	+	Splice_Site	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:10410252G>A	ENST00000274140.5	+	18	1687	c.1553_splice	c.e18-1	p.D519_splice	MARCH6_ENST00000449913.2_Splice_Site_p.D471_splice|MARCH6_ENST00000503788.1_Splice_Site_p.D414_splice|MARCH6_ENST00000510792.1_Splice_Site_p.D217_splice	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	519					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.D519N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CTCTTTCAGTGATGCTCCAGT	0.433000													54	200					0	0	0.139131	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420209	105420209	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr14:105420209G>T	ENST00000333244.5	-	7	1698	c.1579C>A	c.(1579-1581)Ctg>Atg	p.L527M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	527						nucleus		p.L527M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCACCCTTCAGGCCAGTACCC	0.557000													6	126					0.00198382	0.00239327	0.029380	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33546167	33546167	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:33546167G>T	ENST00000504830.1	-	22	4778	c.4443C>A	c.(4441-4443)gaC>gaA	p.D1481E	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1396E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1481	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.D1481E(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTCTTACCAGGTCCCAGTTCC	0.428000										HNSCC(64;0.19)			11	144					2.80697e-09	5.22374e-09	0.080935	1	0
SNX31	169166	broad.mit.edu	37	8	101601166	101601166	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr8:101601166G>T	ENST00000311812.2	-	11	1170	c.1020C>A	c.(1018-1020)aaC>aaA	p.N340K	SNX31_ENST00000428383.2_Missense_Mutation_p.N241K|SNX31_ENST00000519521.1_5'UTR	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	340					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTAAGTTCTGGTTGAGAGTTC	0.418000													7	84					8.12818e-05	0.00011244	0.029380	1	0
MAGEC1	9947	broad.mit.edu	37	X	140993218	140993218	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:140993218G>T	ENST00000285879.4	+	4	314	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	10							protein binding	p.G10W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTACTGCTGGGATGCCGAG	0.537000										HNSCC(15;0.026)			7	188					0.0293803	0.0322562	0.029380	1	0
UNC13B	10497	broad.mit.edu	37	9	35403960	35403960	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr9:35403960G>T	ENST00000378495.3	+	39	4928	c.4706G>T	c.(4705-4707)aGc>aTc	p.S1569I	UNC13B_ENST00000396787.1_Missense_Mutation_p.S1600I|UNC13B_ENST00000378496.4_Missense_Mutation_p.S1588I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1569					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.S1569I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TCTCAGAGGAGCAATGACGAG	0.557000													5	79					1.024e-07	1.80068e-07	0.014758	1	0
DLG2	1740	broad.mit.edu	37	11	84245668	84245668	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr11:84245668G>A	ENST00000398309.2	-	2	619	c.149C>T	c.(148-150)tCt>tTt	p.S50F	DLG2_ENST00000532653.1_Missense_Mutation_p.S50F|DLG2_ENST00000524982.1_Missense_Mutation_p.S50F|DLG2_ENST00000376104.2_Missense_Mutation_p.S155F|DLG2_ENST00000543673.1_Missense_Mutation_p.S155F	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	50						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.S155F(1)|p.S50F(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)				TTCTATTTGAGAGAGGTTCTT	0.423000													21	202					0	0	0.069288	0	0
FAM47C	442444	broad.mit.edu	37	X	37028015	37028015	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:37028015G>A	ENST00000358047.3	+	1	1584	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	511								p.R511H(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCATCTCCGCCCAGAGCCT	0.602000													9	131					0	0	0.047766	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45522849	45522849	+	Silent	SNP	C	C	T	rs146580471		TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr21:45522849C>T	ENST00000291574.4	+	22	3712	c.3537C>T	c.(3535-3537)gaC>gaT	p.D1179D		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1179					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.D1179D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CCCAACTGGACGCTGGTAAGG	0.512000													3	71					0	0	0.115264	0	0
BUB3	9184	broad.mit.edu	37	10	124922239	124922239	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:124922239C>G	ENST00000368865.4	+	7	1075	c.866C>G	c.(865-867)aCt>aGt	p.T289S	BUB3_ENST00000481952.1_3'UTR|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.T289S|BUB3_ENST00000538238.1_Missense_Mutation_p.T209S	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	289					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding	p.T289S(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				AATGATGGGACTACGCTTGCA	0.423000													6	174					0	0	0.029380	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164216	150164216	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:150164216C>A	ENST00000307271.3	+	2	1004	c.430C>A	c.(430-432)Ctg>Atg	p.L144M		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	144						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.L144M(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGATGACTTGCTGCAAGATTT	0.438000													6	73					0.0215528	0.0239796	0.021553	1	0
AQP10	89872	broad.mit.edu	37	1	154296832	154296832	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:154296832A>T	ENST00000324978.3	+	6	822	c.782A>T	c.(781-783)cAg>cTg	p.Q261L	AQP10_ENST00000484864.1_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	261					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.Q261L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCCACTTACCAGCTGTTGGTG	0.602000											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	72					0	0	0.080935	0	0
CSMD2	114784	broad.mit.edu	37	1	34083158	34083158	+	Nonsense_Mutation	SNP	C	C	A	rs147615570		TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:34083158C>A	ENST00000373381.4	-	38	6063	c.5887G>T	c.(5887-5889)Gag>Tag	p.E1963*	CSMD2_ENST00000373388.2_Nonsense_Mutation_p.E62*|CSMD2_ENST00000373377.1_Nonsense_Mutation_p.E62*|CSMD2_ENST00000373380.1_Nonsense_Mutation_p.E836*	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1923	Sushi 11.					integral to membrane|plasma membrane	protein binding	p.E1923*(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGTAGCGCTCGCCAGTCTTC	0.572000													4	42					0.00909568	0.0104274	0.150653	1	0
LCE5A	254910	broad.mit.edu	37	1	152484167	152484167	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:152484167delG	ENST00000334269.2	+	2	333	c.157delG	c.(157-159)gtfs	p.G53fs		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	53	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTGCTGTGGTTCCAGCTC	0.637													12	137	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237666676	237666676	+	Frame_Shift_Del	DEL	A	A	-			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr1:237666676delA	ENST00000366574.2	+	22	2801	c.2484delA	c.(2482-2484)ccfs	p.P828fs	RYR2_ENST00000542537.1_Frame_Shift_Del_p.P812fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.P826fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	828					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			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)			CTGTTCTGCCAAAAGAAAAGT	0.493													10	70	---	---	---	---					
SDPR	8436	broad.mit.edu	37	2	192700826	192700826	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr2:192700826delC	ENST00000304141.4	-	2	1430	c.1101delG	c.(1099-1101)ggfs	p.G367fs		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	367						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGCTGTCCATCCCCGAGTTAC	0.582													9	298	---	---	---	---					
MYH15	22989	broad.mit.edu	37	3	108102463	108102463	+	Frame_Shift_Del	DEL	T	T	-			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr3:108102463delT	ENST00000273353.3	-	41	5861	c.5805delA	c.(5803-5805)aafs	p.K1935fs		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1935						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACTCTCTTGCTTTAATTTTGA	0.368													44	348	---	---	---	---					
STXBP5L	9515	broad.mit.edu	37	3	121126216	121126216	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr3:121126216delG	ENST00000273666.6	+	24	3057	c.2786delG	c.(2785-2787)tgfs	p.W929fs	STXBP5L_ENST00000471454.1_Frame_Shift_Del_p.W905fs|STXBP5L_ENST00000497029.1_Frame_Shift_Del_p.W903fs|STXBP5L_ENST00000472879.1_Frame_Shift_Del_p.W905fs|STXBP5L_ENST00000492541.1_Frame_Shift_Del_p.W929fs	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	929					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAAAAATCTTGGAGAAGGAAA	0.393													21	120	---	---	---	---					
IQGAP2	10788	broad.mit.edu	37	5	75964638	75964638	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:75964638delC	ENST00000274364.6	+	23	3109	c.2812delC	c.(2812-2814)ttfs	p.L938fs	IQGAP2_ENST00000379730.3_Frame_Shift_Del_p.L440fs|IQGAP2_ENST00000502745.1_Frame_Shift_Del_p.L434fs|IQGAP2_ENST00000396234.3_Frame_Shift_Del_p.L434fs	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	938	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACTTCTCAAGCTTTTTAAAAC	0.333													8	98	---	---	---	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)cgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													5	10	---	---	---	---					
PKHD1	5314	broad.mit.edu	37	6	51890920	51890920	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr6:51890920delC	ENST00000371117.3	-	32	3963	c.3688delG	c.(3688-3690)tafs	p.V1230fs	PKHD1_ENST00000340994.4_Frame_Shift_Del_p.V1230fs	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1230	IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCACAAGTACCCAAACCAAA	0.517													10	104	---	---	---	---					
HOXA2	3199	broad.mit.edu	37	7	27141898	27141899	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr7:27141898_27141899insT	ENST00000222718.5	-	1	531_532	c.221_222insA	c.(220-222)accfs	p.T74fs		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	74						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						cggggcTCGGCTTGGGGCGGCC	0.693													5	9	---	---	---	---					
PDCD11	22984	broad.mit.edu	37	10	105198508	105198508	+	Frame_Shift_Del	DEL	A	A	-			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr10:105198508delA	ENST00000369797.3	+	27	4062	c.3968delA	c.(3967-3969)gafs	p.E1323fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1323					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GACATTAAGGAAGGGCAGCTT	0.507													8	121	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6078534	6078535	+	Frame_Shift_Ins	INS	-	-	G			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr12:6078534_6078535insG	ENST00000261405.5	-	45	7825_7826	c.7571_7572insC	c.(7570-7572)cgafs	p.R2524fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2524					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGGGTTCTCCGGGGAGGCCCA	0.604													9	86	---	---	---	---					
TRAV13-1	28671	broad.mit.edu	37	14	22337247	22337247	+	RNA	DEL	C	C	-			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr14:22337247delC	ENST00000390436.2	+	0	72																											CTGATTTTTTCTTTCTGCATA	0.413													7	62	---	---	---	---					
TBC1D3P5	440419	broad.mit.edu	37	17	25754047	25754047	+	RNA	DEL	T	T	-			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr17:25754047delT	ENST00000586223.1	+	0	1595					NR_033892.1																						GACGCTGTTCTTttttttttt	0.453													4	6	---	---	---	---					
RAMP2	10266	broad.mit.edu	37	17	40914762	40914762	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr17:40914762delC	ENST00000589683.1	+	4	561	c.195delC	c.(193-195)gafs	p.D65fs	RAMP2_ENST00000253796.5_Frame_Shift_Del_p.D140fs|RAMP2_ENST00000588576.1_Frame_Shift_Del_p.T104fs|RAMP2_ENST00000587142.1_Frame_Shift_Del_p.D145fs			O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	140					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	CCTTCTCTGACCCCCCAGAGG	0.552													7	89	---	---	---	---					
CEP112	201134	broad.mit.edu	37	17	63822325	63822325	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chr17:63822325delG	ENST00000317442.8	-	1	336	c.93delC	c.(91-93)ccfs	p.P31fs	CEP112_ENST00000392769.2_Intron|CEP112_ENST00000541355.1_Intron|CEP112_ENST00000580482.1_Intron|CEP112_ENST00000535342.2_Intron|CEP112_ENST00000537949.1_Intron	NM_001037325.2	NP_001032402.1	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	762						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GCTCTGTCTTGGGGACATTAC	0.468													44	524	---	---	---	---					
RGAG1	57529	broad.mit.edu	37	X	109695829	109695829	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4626-01A-01D-1553-08	TCGA-38-4626-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85b56ce7-b420-433e-a77d-43ef628d685c	4443344e-b4c7-48a7-9b46-05fbe1c32326	g.chrX:109695829delG	ENST00000465301.2	+	3	2230	c.1984delG	c.(1984-1986)ccfs	p.A662fs	RGAG1_ENST00000540313.1_Frame_Shift_Del_p.A662fs	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	662										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GACAGACACAGCCTCTGGAGG	0.512													7	107	---	---	---	---