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
CNOT3	4849	broad.mit.edu	37	19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:54646887G>A	ENST00000406403.1	+	2	1661	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.E20K(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGTGTCCGAGGGCGTGGA	0.557000													32	239					0	0	0.005524	0	0
ASH1L	55870	broad.mit.edu	37	1	155450350	155450350	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:155450350C>G	ENST00000368346.3	-	3	2950	c.2311G>C	c.(2311-2313)Gat>Cat	p.D771H	ASH1L_ENST00000392403.3_Missense_Mutation_p.D771H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	771					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.D771H(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAGTCATGATCTACAAATGAA	0.383000													53	179					0	0	0.014410	0	0
KIAA1429	25962	broad.mit.edu	37	8	95541352	95541352	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:95541352C>T	ENST00000297591.5	-	7	901	c.826G>A	c.(826-828)Gag>Aag	p.E276K	KIAA1429_ENST00000437199.1_Missense_Mutation_p.E276K|KIAA1429_ENST00000421249.2_Missense_Mutation_p.E276K	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	276	Glu-rich.				mRNA processing|RNA splicing	nucleus		p.E276K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			tcttcctcctcAGGAATACTG	0.433000													11	21					0	0	0.008291	0	0
SLC9A4	389015	broad.mit.edu	37	2	103119999	103119999	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:103119999C>T	ENST00000295269.4	+	3	1270	c.813C>T	c.(811-813)atC>atT	p.I271I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	271					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.I271I(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCCGATTCATCGTTGTGGGGC	0.393000													24	69					0	0	0.003954	0	0
MAN2B2	23324	broad.mit.edu	37	4	6606942	6606942	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:6606942G>A	ENST00000285599.3	+	11	1736	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R516H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	567					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	p.R567H(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CAATTTGGCCGCAGGCTGAGG	0.617000													14	35					0	0	0.014323	0	0
CMSS1	84319	broad.mit.edu	37	3	99865849	99865849	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:99865849G>A	ENST00000421999.2	+	2	243	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	CMSS1_ENST00000489081.1_Missense_Mutation_p.E15K	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)									p.E33K(1)|p.E33*(1)									AGGAGACACAGAAGTGATGCA	0.433000													9	49					0	0	0.010729	0	0
AIRE	326	broad.mit.edu	37	21	45706995	45706995	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:45706995C>G	ENST00000291582.5	+	3	569	c.442C>G	c.(442-444)Cca>Gca	p.P148A		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	148					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	p.P148A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		AGCCCTGACTCCAAGGGGCAC	0.716000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				4	23					0	0	0.008291	0	0
NKTR	4820	broad.mit.edu	37	3	42672757	42672757	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:42672757G>C	ENST00000232978.8	+	8	687	c.499G>C	c.(499-501)Gat>Cat	p.D167H	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	167	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.D167H(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ACCATATGCAGATGTGCGAGT	0.388000													17	50					0	0	0.004990	0	0
NFRKB	4798	broad.mit.edu	37	11	129762750	129762750	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:129762750C>T	ENST00000524794.1	-	1	154	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	NFRKB_ENST00000446488.3_5'UTR|NFRKB_ENST00000526940.1_5'UTR|NFRKB_ENST00000524746.1_5'UTR|NFRKB_ENST00000304521.5_5'UTR			Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	0					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	p.E12K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TCCATTGTTTCTTCTCCACAG	0.488000													47	158					0	0	0.014410	0	0
GPR133	283383	broad.mit.edu	37	12	131498798	131498798	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:131498798G>A	ENST00000261654.5	+	13	1945	c.1386G>A	c.(1384-1386)ctG>ctA	p.L462L	GPR133_ENST00000535015.1_Silent_p.L494L|GPR133_ENST00000376682.4_Silent_p.L148L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	462					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L462L(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCAGCCACCTGATTTCCCTGG	0.582000													8	102					0	0	0.003080	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701788	103701788	+	Missense_Mutation	SNP	G	G	A	rs145541774		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:103701788G>A	ENST00000245312.3	-	5	1366	c.770C>T	c.(769-771)aCg>aTg	p.T257M		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	257					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.T257M(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAAGCAACCGTTCGGCACCT	0.408000													18	55					0	0	0.006122	0	0
AOC4P	90586	broad.mit.edu	37	17	41020734	41020734	+	RNA	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:41020734C>G	ENST00000585538.1	+	0	1573					NR_002773.1																						GTCTTCCACCCTAATGGGGCC	0.507000													7	37					0	0	0.001855	0	0
PIK3CB	5291	broad.mit.edu	37	3	138433362	138433362	+	Missense_Mutation	SNP	G	G	A	rs143122477	by1000genomes	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138433362G>A	ENST00000477593.1	-	8	1323	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	PIK3CB_ENST00000289153.2_Missense_Mutation_p.T417M			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	417	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.T417M(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AATAGTTTTCGTTGATTTCTT	0.318000													54	56					0	0	0.014410	0	0
TCHH	7062	broad.mit.edu	37	1	152083887	152083887	+	Silent	SNP	C	C	T	rs115769840	by1000genomes	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:152083887C>T	ENST00000368804.1	-	2	1805	c.1806G>A	c.(1804-1806)ctG>ctA	p.L602L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	602	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.L602L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCGCGCTTCAGTCGCTGCT	0.677000													11	66					0	0	0.012319	0	0
COL15A1	1306	broad.mit.edu	37	9	101825366	101825366	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:101825366C>G	ENST00000375001.3	+	39	4049	c.3626C>G	c.(3625-3627)tCa>tGa	p.S1209*		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1209	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.S1209*(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)				AACCCTATTTCAAGTGCCAAT	0.373000													15	53					0	0	0.008871	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967834	48967834	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:48967834G>C	ENST00000391884.1	+	2	1587	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q	KCNJ14_ENST00000342291.2_Missense_Mutation_p.E371Q			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	371						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.E371Q(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		TGAACGGGCAGAGCAGGCTTC	0.552000													17	68					0	0	0.006122	0	0
AP1M2	10053	broad.mit.edu	37	19	10692042	10692042	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:10692042C>T	ENST00000590923.1	-	6	656	c.573G>A	c.(571-573)ctG>ctA	p.L191L	AP1M2_ENST00000250244.6_Silent_p.L191L			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	191	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	p.L191L(1)		endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CGATTTCGCTCAGAAGGACGC	0.592000											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	30					0	0	0.001855	0	0
HMCES	56941	broad.mit.edu	37	3	129020945	129020945	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:129020945C>G	ENST00000383463.4	+	6	877	c.788C>G	c.(787-789)aCt>aGt	p.T263S	HMCES_ENST00000389735.3_Missense_Mutation_p.T263S|HMCES_ENST00000417226.2_Missense_Mutation_p.T221S|HMCES_ENST00000502878.2_Missense_Mutation_p.T263S	NM_020187.2	NP_064572.2			5-hydroxymethylcytosine (hmC) binding, ES cell-specific	263								p.T263S(1)									CGAAACAACACTCCTGAGTGT	0.483000													33	189					0	0	0.003755	0	0
AP5Z1	9907	broad.mit.edu	37	7	4830468	4830468	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:4830468G>C	ENST00000348624.4	+	16	2197	c.2103G>C	c.(2101-2103)ctG>ctC	p.L701L	AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	701					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	p.L545L(1)|p.L1412L(1)									TCACCGTGCTGATGACCACGC	0.647000													2	12					0	0	0.004672	0	0
TRPV3	162514	broad.mit.edu	37	17	3458046	3458046	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:3458046C>T	ENST00000301365.4	-	2	230	c.99G>A	c.(97-99)gaG>gaA	p.E33E	TRPV3_ENST00000576742.1_Silent_p.E33E|TRPV3_ENST00000572519.1_Silent_p.E33E			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	33						integral to membrane	calcium channel activity	p.E33E(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TGGGGGTGATCTCCGCCGGCC	0.657000													19	68					0	0	0.008871	0	0
RYR2	6262	broad.mit.edu	37	1	237774219	237774219	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:237774219G>A	ENST00000366574.2	+	36	5158	c.4841G>A	c.(4840-4842)cGc>cAc	p.R1614H	RYR2_ENST00000360064.6_Missense_Mutation_p.R1612H|RYR2_ENST00000542537.1_Missense_Mutation_p.R1598H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1614	4 X approximate repeats.				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.R1612H(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)			ATAAGTGAACGCCAAGGCTGG	0.527000													8	25					0	0	0.003080	0	0
XPR1	9213	broad.mit.edu	37	1	180775197	180775197	+	Splice_Site	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:180775197G>C	ENST00000367590.4	+	5	645		c.e5-1		XPR1_ENST00000367589.3_Splice_Site	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1							integral to plasma membrane	G-protein coupled receptor activity	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCTTTCTGTAGAATCTGAATT	0.398000													11	32					0	0	0.010729	0	0
LCOR	84458	broad.mit.edu	37	10	98715053	98715053	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:98715053G>A	ENST00000540664.1	+	8	1219	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	LCOR_ENST00000498444.1_Intron|LCOR_ENST00000356016.3_Missense_Mutation_p.E226K|LCOR_ENST00000371097.4_Missense_Mutation_p.E226K|LCOR_ENST00000371103.3_Missense_Mutation_p.E226K	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor									p.E226K(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TTTTCTTGCAGAAAACTCTGC	0.433000													23	69					0	0	0.002780	0	0
BAG5	9529	broad.mit.edu	37	14	104026577	104026577	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:104026577C>T	ENST00000445922.2	-	2	1171	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000337322.4_Missense_Mutation_p.E350K|BAG5_ENST00000299204.4_Missense_Mutation_p.E309K	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	309	BAG 4.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	p.E309K(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CCCTGCAATTCTGTTTTGGAG	0.408000													31	102					0	0	0.008361	0	0
RIBC2	26150	broad.mit.edu	37	22	45818177	45818177	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:45818177C>T	ENST00000342894.3	+	4	759	c.345C>T	c.(343-345)ctC>ctT	p.L115L	RIBC2_ENST00000466226.1_3'UTR|RIBC2_ENST00000538017.1_Silent_p.L183L			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	115								p.L115L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGAGGCCCTCTACACAGAGA	0.547000													68	225					0	0	0.014410	0	0
PHYHIPL	84457	broad.mit.edu	37	10	61005268	61005268	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:61005268G>A	ENST00000373880.4	+	5	1312	c.1048G>A	c.(1048-1050)Ggt>Agt	p.G350S	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.G324S	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	350								p.G350S(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AGAAATCACTGGTCATCAGCT	0.448000													41	96					0	0	0.007835	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255144	9255144	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:9255144G>A	ENST00000262126.4	+	9	2119	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	ANKRD12_ENST00000383440.2_Missense_Mutation_p.E604K|ANKRD12_ENST00000400020.3_Missense_Mutation_p.E604K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus		p.E627K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AATAAAGGATGAAGATCATAG	0.284000													30	88					0	0	0.006320	0	0
GALNT5	11227	broad.mit.edu	37	2	158115547	158115547	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:158115547C>T	ENST00000259056.4	+	1	1438	c.953C>T	c.(952-954)tCt>tTt	p.S318F		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	318					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.S318F(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTCAATTTCTCTGAAAGCCAT	0.388000													31	93					0	0	0.009535	0	0
SPHK2	56848	broad.mit.edu	37	19	49132338	49132338	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:49132338C>G	ENST00000443164.1	+	5	2164	c.1459C>G	c.(1459-1461)Ctt>Gtt	p.L487V	SPHK2_ENST00000245222.4_Missense_Mutation_p.L425V|SPHK2_ENST00000598088.1_Missense_Mutation_p.L425V|SPHK2_ENST00000600537.1_Missense_Mutation_p.L366V|SPHK2_ENST00000599748.1_Missense_Mutation_p.L389V|SPHK2_ENST00000599029.1_Missense_Mutation_p.L389V|SPHK2_ENST00000340932.3_Missense_Mutation_p.L387V			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	425					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	p.L425V(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		tgacctgcctcttcccctgcc	0.687000													9	45					0	0	0.006214	0	0
APOPT1	84334	broad.mit.edu	37	14	104037964	104037964	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:104037964C>G	ENST00000409074.2	+	2	168	c.167C>G	c.(166-168)tCa>tGa	p.S56*	APOPT1_ENST00000477116.1_3'UTR|APOPT1_ENST00000556253.2_Nonsense_Mutation_p.S43*|RP11-73M18.2_ENST00000472726.2_Nonsense_Mutation_p.S56*|APOPT1_ENST00000247618.4_Nonsense_Mutation_p.S43*	NM_032374.3	NP_115750.2			apoptogenic 1, mitochondrial									p.S43*(1)									TTAAAGGTCTCAAGATTCTGC	0.333000													25	107					0	0	0.003954	0	0
COL20A1	57642	broad.mit.edu	37	20	61959482	61959482	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:61959482G>C	ENST00000422202.1	+	32	3705	c.3637G>C	c.(3637-3639)Gag>Cag	p.E1213Q	COL20A1_ENST00000326996.6_Intron|COL20A1_ENST00000435874.1_Missense_Mutation_p.E1213Q|COL20A1_ENST00000358894.6_Intron			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1204					cell adhesion	collagen|extracellular space	structural molecule activity	p.?(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCAGGCCTGTGAGTCTGCCAT	0.647000													6	22					0	0	0.003080	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1756554	1756554	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:1756554G>A	ENST00000250894.4	+	1	371	c.214G>A	c.(214-216)Gag>Aag	p.E72K	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E72K	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	72					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.E72K(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGTGCTCAGCGAGAACCAGGA	0.637000													11	23					0	0	0.013537	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67428988	67428988	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:67428988G>C	ENST00000348579.2	-	10	1488	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	ZDHHC1_ENST00000566075.1_Intron	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	383						integral to membrane	DNA binding|zinc ion binding	p.Q383E(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GGGGGAGCCTGAGGGCCCCAC	0.617000													4	28					0	0	0.000602	0	0
ALPL	249	broad.mit.edu	37	1	21889741	21889741	+	Missense_Mutation	SNP	G	G	A	rs138587317		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:21889741G>A	ENST00000374840.3	+	5	686	c.436G>A	c.(436-438)Gag>Aag	p.E146K	ALPL_ENST00000425315.2_Missense_Mutation_p.E146K|ALPL_ENST00000374832.1_Missense_Mutation_p.E146K|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000539907.1_Missense_Mutation_p.E69K|ALPL_ENST00000540617.1_Missense_Mutation_p.E91K	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	146					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.E146K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CCAGGGGAACGAGGTCACCTC	0.667000													17	61					0	0	0.004007	0	0
BROX	148362	broad.mit.edu	37	1	222904853	222904853	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:222904853G>A	ENST00000340934.5	+	12	1550	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N	BROX_ENST00000539697.1_Missense_Mutation_p.D350N|BROX_ENST00000537020.1_Intron	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	382	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						ACCCAAGGATGACAGTGTATG	0.353000													16	105					0	0	0.004007	0	0
CCDC18	343099	broad.mit.edu	37	1	93649605	93649605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:93649605C>T	ENST00000343253.7	+	3	707	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000557479.1_Nonsense_Mutation_p.Q187*|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Nonsense_Mutation_p.Q69*			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	69								p.Q187*(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTGGATGTTCAGCCTAGCCA	0.353000													43	134					0	0	0.011902	0	0
NME9	347736	broad.mit.edu	37	3	138033219	138033219	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138033219C>T	ENST00000383180.2	-	7	469	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	NME9_ENST00000484930.1_Missense_Mutation_p.E76K|NME9_ENST00000333911.3_Missense_Mutation_p.E139K|NME9_ENST00000317876.4_Missense_Mutation_p.E78K|NME9_ENST00000341790.5_Missense_Mutation_p.E76K|NME9_ENST00000536478.1_Missense_Mutation_p.E78K	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	139	Thioredoxin.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.E78K(1)									GAAACACATTCATCTTCATCA	0.358000													43	295					0	0	0.010771	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379192	204379192	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:204379192C>T	ENST00000367188.4	-	1	1727	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	450					regulation of translation			p.E450K(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCAGCTTCCTCATCCCAATCC	0.458000													48	218					0	0	0.014410	0	0
SNORD3A	780851	broad.mit.edu	37	17	19091389	19091389	+	RNA	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:19091389G>A	ENST00000365494.1	+	0	61																											ctctgaacgtgtagagcaccg	0.498000													31	376					0	0	0.005524	0	0
BPI	671	broad.mit.edu	37	20	36948673	36948673	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:36948673G>A	ENST00000262865.4	+	7	854	c.765G>A	c.(763-765)atG>atA	p.M255I	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	255					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.M255I(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ATGTACAGATGAAGGTGAGGC	0.498000													6	42					0	0	0.001168	0	0
ZNF200	7752	broad.mit.edu	37	16	3273959	3273959	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3273959C>G	ENST00000431561.3	-	5	1733	c.1121G>C	c.(1120-1122)gGt>gCt	p.G374A	AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396868.3_Missense_Mutation_p.G373A|ZNF200_ENST00000575948.1_Missense_Mutation_p.G373A|ZNF200_ENST00000414144.2_Missense_Mutation_p.G374A|ZNF200_ENST00000396871.4_Missense_Mutation_p.G373A|ZNF200_ENST00000396870.4_Missense_Mutation_p.G373A	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G374A(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TGACAGCCGACCAAATCTTCT	0.483000													46	418					0	0	0.014410	0	0
ZNF562	54811	broad.mit.edu	37	19	9767306	9767306	+	Missense_Mutation	SNP	C	C	T	rs140829241		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:9767306C>T	ENST00000448622.1	-	5	427	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	ZNF562_ENST00000453372.2_Missense_Mutation_p.E89K|ZNF562_ENST00000587392.1_Intron|ZNF562_ENST00000541032.1_Missense_Mutation_p.E52K|ZNF562_ENST00000537617.1_5'UTR|ZNF562_ENST00000590155.1_Missense_Mutation_p.E89K|ZNF562_ENST00000453792.2_Missense_Mutation_p.E20K|ZNF562_ENST00000293648.4_Missense_Mutation_p.E17K	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	89	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E17K(1)|p.E89K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						ATTTCCCATTCTGAAGTTAAG	0.328000													44	120					0	0	0.010771	0	0
ZNF365	22891	broad.mit.edu	37	10	64415153	64415153	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:64415153G>A	ENST00000395251.1	+	4	487	c.153G>A	c.(151-153)atG>atA	p.M51I	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	51								p.M51I(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGCCACTGATGAAACAGGCTC	0.478000													11	40					0	0	0.002450	0	0
PDHB	5162	broad.mit.edu	37	3	58414123	58414123	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:58414123C>G	ENST00000474765.1	-	8	961	c.957G>C	c.(955-957)aaG>aaC	p.K319N	RP11-802O23.3_ENST00000607214.1_RNA|PDHB_ENST00000302746.6_Intron|PDHB_ENST00000485460.1_Intron			P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	0					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	CTTTCAATCTCTTTATCCTGT	0.373000													5	42					0	0	0.000602	0	0
DEPDC4	120863	broad.mit.edu	37	12	100649888	100649888	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:100649888C>G	ENST00000416321.1	-	4	819	c.817G>C	c.(817-819)Gat>Cat	p.D273H		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	273					intracellular signal transduction			p.D273H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						ATAACAAGATCTTCCTCTTTG	0.328000													26	91					0	0	0.003954	0	0
CIT	11113	broad.mit.edu	37	12	120166373	120166373	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:120166373C>T	ENST00000392521.2	-	28	3580	c.3525G>A	c.(3523-3525)atG>atA	p.M1175I	CIT_ENST00000261833.7_Missense_Mutation_p.M1133I|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1133	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.M1176I(1)|p.M1133I(1)|p.M1175I(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTCGGGCATTCATTTCAAGCA	0.463000													84	280					0	0	0.014410	0	0
NOL9	79707	broad.mit.edu	37	1	6592664	6592664	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:6592664C>T	ENST00000377705.5	-	8	1426	c.1394G>A	c.(1393-1395)aGa>aAa	p.R465K		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	465					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	p.R465K(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCGATTTCTCATCTTGGT	0.433000													46	147					0	0	0.014410	0	0
PIK3CB	5291	broad.mit.edu	37	3	138374293	138374293	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138374293C>T	ENST00000477593.1	-	23	3224	c.3151G>A	c.(3151-3153)Gaa>Aaa	p.E1051K	PIK3CB_ENST00000289153.2_Missense_Mutation_p.E1051K|PIK3CB_ENST00000544716.1_Missense_Mutation_p.E502K			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1051	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E1051K(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GTCCAGCTTTCCCTGAGCGCC	0.423000													56	116					0	0	0.014410	0	0
CTCF	10664	broad.mit.edu	37	16	67662356	67662356	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:67662356G>A	ENST00000264010.4	+	9	2046	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q	CTCF_ENST00000401394.1_Silent_p.Q206Q	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	534					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.Q534Q(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CCTTCCGCCAGAAGCAGCTTC	0.557000													29	87					0	0	0.008361	0	0
TCF21	6943	broad.mit.edu	37	6	134210742	134210742	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:134210742G>A	ENST00000367882.4	+	1	467	c.207G>A	c.(205-207)ctG>ctA	p.L69L	TCF21_ENST00000237316.3_Silent_p.L69L|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	69					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.L69L(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		AGAGCCCCCTGAGCGGGGTCA	0.682000													5	63					0	0	0.000602	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36488327	36488327	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:36488327C>T	ENST00000405275.2	+	15	1581	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	CTNNBL1_ENST00000373473.1_Silent_p.I286I|CTNNBL1_ENST00000373469.1_Silent_p.I221I|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000361383.6_Silent_p.I473I	NM_001281495.1	NP_001268424.1	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	473					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	p.I473I(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAGAGATCATCGACAATGACA	0.522000													8	52					0	0	0.003080	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29850554	29850554	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:29850554C>A	ENST00000325874.8	+	8	1183	c.954C>A	c.(952-954)ttC>ttA	p.F318L	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.F216L	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	318	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.F318L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GCAGCAACTTCAGCAGCAGCA	0.602000													34	113					6.84511e-11	7.06325e-11	0.003271	1	0
DDX60	55601	broad.mit.edu	37	4	169215078	169215078	+	Missense_Mutation	SNP	G	G	C	rs138195535		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:169215078G>C	ENST00000393743.3	-	7	1033	c.742C>G	c.(742-744)Ctg>Gtg	p.L248V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	248							ATP binding|ATP-dependent helicase activity|RNA binding	p.L248V(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGTGTAAGCAGAGATACAGTC	0.358000													23	92					0	0	0.002780	0	0
TRIM42	287015	broad.mit.edu	37	3	140401335	140401335	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:140401335G>C	ENST00000286349.3	+	2	564	c.373G>C	c.(373-375)Gat>Cat	p.D125H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	125						intracellular	zinc ion binding	p.D125H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGGGAGCAGCGATACCCAGGT	0.557000													15	154					0	0	0.010504	0	0
FLCN	201163	broad.mit.edu	37	17	17116970	17116970	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:17116970C>G	ENST00000285071.4	-	14	2193	c.1739G>C	c.(1738-1740)tGa>tCa	p.*580S	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	0					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	p.*580S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGTGACGGGTCAGTTCCGAGA	0.582000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				33	104					0	0	0.013726	0	0
DCTD	1635	broad.mit.edu	37	4	183836719	183836719	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:183836719C>G	ENST00000357067.3	-	2	101	c.36G>C	c.(34-36)atG>atC	p.M12I	DCTD_ENST00000438320.2_Start_Codon_SNP_p.M1I|DCTD_ENST00000510370.1_Start_Codon_SNP_p.M1I	NM_001012732.1	NP_001012750.1	P32321	DCTD_HUMAN	dCMP deaminase	1					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	p.M1I(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		AAACTTCACTCATGTTGGGTC	0.398000													29	111					0	0	0.009535	0	0
ZNF200	7752	broad.mit.edu	37	16	3273931	3273931	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3273931C>G	ENST00000431561.3	-	5	1761	c.1149G>C	c.(1147-1149)gaG>gaC	p.E383D	AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396868.3_Missense_Mutation_p.E382D|ZNF200_ENST00000575948.1_Missense_Mutation_p.E382D|ZNF200_ENST00000414144.2_Missense_Mutation_p.E383D|ZNF200_ENST00000396871.4_Missense_Mutation_p.E382D|ZNF200_ENST00000396870.4_Missense_Mutation_p.E382D	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E383D(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						AGTGGGTTTTCTCATGCCGGG	0.478000													44	351					0	0	0.014410	0	0
ZNF461	92283	broad.mit.edu	37	19	37130933	37130933	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:37130933C>G	ENST00000588268.1	-	6	541	c.314G>C	c.(313-315)aGa>aCa	p.R105T	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.R82T	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R105T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGCTCATCTCTGGATGCCAA	0.343000													23	83					0	0	0.014323	0	0
FANCD2	2177	broad.mit.edu	37	3	10091133	10091133	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:10091133C>G	ENST00000287647.3	+	17	1582	c.1489C>G	c.(1489-1491)Cta>Gta	p.L497V	FANCD2_ENST00000419585.1_Missense_Mutation_p.L497V|FANCD2_ENST00000383806.1_Missense_Mutation_p.L497V|FANCD2_ENST00000383807.1_Missense_Mutation_p.L497V	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	497					DNA repair|response to gamma radiation	nucleoplasm	protein binding	p.L497V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGATGTCCTTCTAGAGTTGGT	0.398000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				70	254					0	0	0.014410	0	0
WDR17	116966	broad.mit.edu	37	4	177052884	177052884	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:177052884G>C	ENST00000393643.2	+	7	1345	c.1093G>C	c.(1093-1095)Gac>Cac	p.D365H	WDR17_ENST00000280190.4_Missense_Mutation_p.D389H|WDR17_ENST00000508596.1_Missense_Mutation_p.D365H|WDR17_ENST00000507824.2_Missense_Mutation_p.D372H	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	389								p.D389H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTTTCTTAGAGACTTGGTATG	0.338000													16	252					0	0	0.004990	0	0
HEATR6	63897	broad.mit.edu	37	17	58156203	58156203	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:58156203C>G	ENST00000184956.6	-	1	89	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	HEATR6_ENST00000585976.1_Missense_Mutation_p.E25Q|HEATR6_ENST00000585712.1_5'UTR	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	25							binding	p.E25Q(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTGCCTCGCTCAGGGATTGCT	0.662000													4	19					0	0	0.000602	0	0
ARMC9	80210	broad.mit.edu	37	2	232141443	232141443	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:232141443G>A	ENST00000349938.4	+	15	1623	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	477							binding	p.E477K(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CTACACGCTGGAGTACTCGGT	0.567000													37	139					0	0	0.006230	0	0
METTL4	64863	broad.mit.edu	37	18	2547371	2547371	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:2547371C>G	ENST00000319888.6	-	6	1855	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q	METTL4_ENST00000574538.1_Missense_Mutation_p.E353Q			Q8N3J2	METL4_HUMAN	methyltransferase like 4	353					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	p.E353Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CAGTGCCACTCAGCAACTACC	0.388000													34	93					0	0	0.013726	0	0
MLX	6945	broad.mit.edu	37	17	40722180	40722180	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:40722180C>G	ENST00000246912.4	+	7	872	c.819C>G	c.(817-819)atC>atG	p.I273M	MLX_ENST00000346833.4_Missense_Mutation_p.I189M|MLX_ENST00000435881.2_Missense_Mutation_p.I219M	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	273					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.I273M(1)		kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TCAGCTGGATCGAGGAGCACT	0.532000													11	66					0	0	0.010729	0	0
SLC44A5	204962	broad.mit.edu	37	1	75699699	75699699	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:75699699C>T	ENST00000370855.5	-	12	938	c.825G>A	c.(823-825)atG>atA	p.M275I	SLC44A5_ENST00000535611.1_Missense_Mutation_p.M145I|SLC44A5_ENST00000370859.3_Missense_Mutation_p.M275I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	275						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.M275I(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TCACACCAATCATGAAGACCC	0.373000													38	134					0	0	0.008740	0	0
FOXA2	3170	broad.mit.edu	37	20	22563340	22563340	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:22563340C>G	ENST00000419308.2	-	2	724	c.540G>C	c.(538-540)caG>caC	p.Q180H	FOXA2_ENST00000377115.4_Missense_Mutation_p.Q174H	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	180					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.Q174H(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGTTGGGGCTCTGCTGGATGG	0.617000													41	117					0	0	0.010771	0	0
SEC24B	10427	broad.mit.edu	37	4	110442741	110442741	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:110442741C>T	ENST00000265175.5	+	14	2522	c.2467C>T	c.(2467-2469)Ctg>Ttg	p.L823L	SEC24B_ENST00000399100.2_Silent_p.L788L|SEC24B_ENST00000504968.2_Silent_p.L853L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	823					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	protein binding|transporter activity|zinc ion binding	p.L788L(1)|p.L823L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGCAGGACTTCTGCAATCCAG	0.383000													11	31					0	0	0.001855	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871693	15871693	+	RNA	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:15871693G>A	ENST00000595525.1	+	0	509																											AGTTGAAGCGGAAGGGGTTGT	0.577000													13	41					0	0	0.002450	0	0
KIF1C	10749	broad.mit.edu	37	17	4904541	4904541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4904541C>T	ENST00000320785.5	+	5	565	c.208C>T	c.(208-210)Cag>Tag	p.Q70*		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	70	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	p.Q70*(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GTTTGCATCTCAGCAGCAAGT	0.527000													35	117					0	0	0.004289	0	0
VPS39	23339	broad.mit.edu	37	15	42462051	42462051	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:42462051C>T	ENST00000318006.5	-	12	1266	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	VPS39_ENST00000348544.4_Silent_p.V379V	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	379					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	p.V368V(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACAGGCCCATCACATGGGTGG	0.468000													32	108					0	0	0.006230	0	0
GDAP1	54332	broad.mit.edu	37	8	75262801	75262801	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:75262801C>T	ENST00000220822.7	+	1	185	c.105C>T	c.(103-105)ttC>ttT	p.F35F	GDAP1_ENST00000434412.2_Intron|GDAP1_ENST00000521096.1_Intron	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	35	GST N-terminal.					cytoplasm		p.F35F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CGCATTCGTTCAGCTCTCAAA	0.627000													14	58					0	0	0.006122	0	0
CC2D2A	57545	broad.mit.edu	37	4	15529226	15529226	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:15529226G>A	ENST00000424120.1	+	12	1560	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	CC2D2A_ENST00000389652.5_Missense_Mutation_p.D387N|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_Missense_Mutation_p.D436N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D436N			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	436					cell projection organization	cilium|microtubule basal body		p.D387N(1)|p.D436N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCAGTTATATGACCAGTACCT	0.408000													6	31					0	0	0.001984	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221314	1221314	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:1221314C>T	ENST00000304460.10	+	11	1643	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	529					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.F529F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCAACATCTTCTGGCAAGTCA	0.547000													10	32					0	0	0.008291	0	0
CACNA1A	773	broad.mit.edu	37	19	13409682	13409682	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:13409682C>T	ENST00000360228.5	-	19	2764	c.2765G>A	c.(2764-2766)cGa>cAa	p.R922Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R923Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	923					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.R923Q(4)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGCCTTGCCTCGCTCGGCCTC	0.776000													6	21					0	0	0.001984	0	0
RFC4	5984	broad.mit.edu	37	3	186512523	186512523	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:186512523C>T	ENST00000392481.2	-	5	615	c.334G>A	c.(334-336)Gat>Aat	p.D112N	RFC4_ENST00000296273.2_Missense_Mutation_p.D112N|RFC4_ENST00000433496.1_Missense_Mutation_p.D112N	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	112					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.D112N(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CCACGTTCATCAGATGCATTT	0.368000													16	101					0	0	0.004990	0	0
SND1	27044	broad.mit.edu	37	7	127714730	127714730	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:127714730G>A	ENST00000354725.3	+	17	2150	c.1956G>A	c.(1954-1956)caG>caA	p.Q652Q		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	652	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	p.Q652Q(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCGCAAAGCAGAAGAAAGAGA	0.602000													4	23					0	0	0.009096	0	0
EXTL3	2137	broad.mit.edu	37	8	28574875	28574875	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:28574875C>G	ENST00000220562.4	+	3	2201	c.1299C>G	c.(1297-1299)atC>atG	p.I433M	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.I49M	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	433						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.I433M(1)		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)		TCGCCCTCATCATTACCCCCG	0.622000													32	84					0	0	0.010818	0	0
RYR1	6261	broad.mit.edu	37	19	39061261	39061261	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:39061261G>A	ENST00000355481.4	+	93	13790	c.13659G>A	c.(13657-13659)cgG>cgA	p.R4553R	RYR1_ENST00000359596.3_Silent_p.R4558R|RYR1_ENST00000360985.3_Silent_p.R4553R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4558					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R4558R(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCTGTCCCGGAACTTTTACA	0.483000													39	144					0	0	0.009718	0	0
POTEA	340441	broad.mit.edu	37	8	43211963	43211963	+	RNA	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:43211963C>G	ENST00000522175.2	+	0	1286							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.L474L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TACTAGAACTCAAAAATAGCC	0.353000													13	63					0	0	0.013537	0	0
SERTAD4	56256	broad.mit.edu	37	1	210411352	210411352	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:210411352C>T	ENST00000367012.3	+	2	277	c.47C>T	c.(46-48)tCg>tTg	p.S16L	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	16							protein binding	p.S16L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CCCATTGTCTCGGAAGGAGCT	0.488000													33	124					0	0	0.005524	0	0
FAT4	79633	broad.mit.edu	37	4	126371358	126371358	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:126371358G>C	ENST00000394329.3	+	9	9200	c.9187G>C	c.(9187-9189)Gat>Cat	p.D3063H	FAT4_ENST00000335110.5_Missense_Mutation_p.D1361H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3063	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D3063H(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACTGCAAAGGATAAGGGAAA	0.418000													25	65					0	0	0.004656	0	0
MRP63	78988	broad.mit.edu	37	13	21751269	21751269	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:21751269G>C	ENST00000309594.4	+	2	292	c.214G>C	c.(214-216)Gag>Cag	p.E72Q		NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN	mitochondrial ribosomal protein 63	72								p.E72Q(1)		kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		GGAGGCCTTCGAGGCCATAAA	0.612000													12	41					0	0	0.013537	0	0
CORO6	84940	broad.mit.edu	37	17	27945892	27945892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:27945892C>T	ENST00000345068.5	-	5	762	c.549G>A	c.(547-549)tgG>tgA	p.W183*	CORO6_ENST00000445145.2_Nonsense_Mutation_p.W183*|CORO6_ENST00000577909.1_Intron|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000388767.3_Nonsense_Mutation_p.W183*|CORO6_ENST00000584969.1_Nonsense_Mutation_p.W183*|CORO6_ENST00000580212.1_Nonsense_Mutation_p.W183*			Q6QEF8	CORO6_HUMAN	coronin 6	183					actin cytoskeleton organization	actin cytoskeleton	actin filament binding	p.W183*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CGTTGCTGTTCCAGCACACAC	0.577000													24	75					0	0	0.014323	0	0
HK2	3099	broad.mit.edu	37	2	75061718	75061718	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:75061718C>G	ENST00000290573.2	+	1	611	c.11C>G	c.(10-12)tCg>tGg	p.S4W		NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	4	Hydrophobic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.S4L(1)|p.S4W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ATGATTGCCTCGCATCTGCTT	0.662000													16	50					0	0	0.006122	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908911	158908911	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:158908911G>C	ENST00000368140.1	+	4	698	c.453G>C	c.(451-453)agG>agC	p.R151S	PYHIN1_ENST00000368135.4_Missense_Mutation_p.R151S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.R151S|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R142S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R142S	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	151					cell cycle	nuclear speck		p.R151S(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)					GAACCAAAAGGAGTAAGATGT	0.463000													16	49					0	0	0.004007	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													4	55					0	0	0.001168	0	0
CD109	135228	broad.mit.edu	37	6	74533302	74533302	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:74533302C>T	ENST00000437994.2	+	33	4663	c.4232C>T	c.(4231-4233)tCa>tTa	p.S1411L	CD109_ENST00000287097.5_Missense_Mutation_p.S1428L|CD109_ENST00000422508.2_Missense_Mutation_p.S1351L	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1428						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.S1428L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCACTCTTCAGTCATTTTT	0.428000													31	123					0	0	0.008361	0	0
PLXND1	23129	broad.mit.edu	37	3	129282030	129282030	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:129282030G>A	ENST00000393239.1	-	26	4753	c.4575C>T	c.(4573-4575)atC>atT	p.I1525I	PLXND1_ENST00000324093.4_Silent_p.I1525I			Q9Y4D7	PLXD1_HUMAN	plexin D1	1525					axon guidance	integral to membrane|intracellular|plasma membrane		p.I1525I(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGCCCTTGTTGATTTGCTGCT	0.617000													12	44					0	0	0.013537	0	0
ACAN	176	broad.mit.edu	37	15	89398115	89398115	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:89398115G>A	ENST00000439576.2	+	12	2673	c.2299G>A	c.(2299-2301)Gca>Aca	p.A767T	ACAN_ENST00000352105.7_Missense_Mutation_p.A767T|ACAN_ENST00000561243.1_Missense_Mutation_p.A767T|ACAN_ENST00000559004.1_Missense_Mutation_p.A767T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	767					cell adhesion		hyaluronic acid binding|sugar binding	p.A767T(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACTGGCGCAGCAACAGAGGA	0.522000													3	19					0	0	0.004672	0	0
GPBP1	65056	broad.mit.edu	37	5	56545357	56545357	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:56545357G>C	ENST00000424459.3	+	10	2260	c.986G>C	c.(985-987)aGa>aCa	p.R329T	GPBP1_ENST00000454432.2_Missense_Mutation_p.R329T|GPBP1_ENST00000511209.1_Missense_Mutation_p.R301T|GPBP1_ENST00000514387.2_Missense_Mutation_p.R138T|GPBP1_ENST00000538707.1_Missense_Mutation_p.R316T|GPBP1_ENST00000264779.6_Missense_Mutation_p.R316T|GPBP1_ENST00000506184.2_Missense_Mutation_p.R309T	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.R309T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AAAAGAGACAGAGTAGAAGAG	0.373000													17	48					0	0	0.004990	0	0
ITGB4	3691	broad.mit.edu	37	17	73738802	73738802	+	Silent	SNP	C	C	T	rs139130590	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:73738802C>T	ENST00000200181.3	+	25	3109	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L	ITGB4_ENST00000339591.3_Silent_p.L974L|ITGB4_ENST00000579662.1_Silent_p.L974L|ITGB4_ENST00000449880.2_Silent_p.L974L|ITGB4_ENST00000450894.3_Silent_p.L974L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	974					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	p.L974L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCCACCCTCGGCCGCCGCC	0.657000													17	57					0	0	0.004990	0	0
RREB1	6239	broad.mit.edu	37	6	7231404	7231404	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:7231404C>T	ENST00000379938.2	+	10	3609	c.3072C>T	c.(3070-3072)gtC>gtT	p.V1024V	RREB1_ENST00000334984.6_Silent_p.V1024V|RREB1_ENST00000379933.3_Silent_p.V1024V|RREB1_ENST00000349384.6_Silent_p.V1024V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1024	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.V1024V(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGCCCTGGTCAGCAGCCCTC	0.706000													24	64					0	0	0.002780	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540313	96540313	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:96540313C>T	ENST00000371321.3	+	4	621	c.539C>T	c.(538-540)tCc>tTc	p.S180F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	180					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.S180F(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTGATCTGCTCCATTATTTTC	0.373000													57	184					0	0	0.014410	0	0
PARP14	54625	broad.mit.edu	37	3	122447406	122447406	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:122447406C>G	ENST00000474629.2	+	17	5634	c.5368C>G	c.(5368-5370)Caa>Gaa	p.Q1790E		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1790	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	p.Q1627E(1)|p.Q1790E(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TTATGACTACCAAGCATACCC	0.368000													43	256					0	0	0.010771	0	0
SCN11A	11280	broad.mit.edu	37	3	38921615	38921615	+	Splice_Site	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:38921615C>G	ENST00000302328.3	-	19	3418		c.e19-1		SCN11A_ENST00000444237.2_Splice_Site|SCN11A_ENST00000456224.3_Splice_Site|SCN11A_ENST00000450244.1_Splice_Site	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit						response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.?(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTCAAATATCTGAAATGAAA	0.318000													8	31					0	0	0.004482	0	0
SNORD3A	780851	broad.mit.edu	37	17	19091383	19091383	+	RNA	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:19091383G>A	ENST00000365494.1	+	0	55																											aagtttctctgaacgtgtaga	0.507000													22	285					0	0	0.008361	0	0
PTPDC1	138639	broad.mit.edu	37	9	96847533	96847533	+	Splice_Site	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:96847533G>C	ENST00000375360.3	+	3	423	c.83G>C	c.(82-84)gGa>gCa	p.G28A	PTPDC1_ENST00000288976.3_Splice_Site_p.R80T	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	28							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R80T(1)|p.G28A(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TATGTTCTAGGAAATTTAGAA	0.408000													16	64					0	0	0.006122	0	0
KRR1	11103	broad.mit.edu	37	12	75900673	75900673	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:75900673C>T	ENST00000229214.4	-	3	305	c.282G>A	c.(280-282)ctG>ctA	p.L94L	KRR1_ENST00000438169.2_Silent_p.L94L	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	94					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	p.L94L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TGCCTTCGATCAGGTCCAGGG	0.373000													22	56					0	0	0.002780	0	0
FLG2	388698	broad.mit.edu	37	1	152328793	152328793	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:152328793G>A	ENST00000388718.5	-	3	1541	c.1469C>T	c.(1468-1470)tCt>tTt	p.S490F	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	490	Ser-rich.						calcium ion binding|structural molecule activity	p.S490F(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGCCAGAGGACTGACC	0.527000													100	290					0	0	0.014410	0	0
FAM171B	165215	broad.mit.edu	37	2	187626819	187626819	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:187626819C>G	ENST00000304698.5	+	8	1953	c.1750C>G	c.(1750-1752)Cag>Gag	p.Q584E		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	584						integral to membrane	DNA binding	p.Q584E(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAACTTTACGCAGACCTTGCC	0.473000													17	69					0	0	0.004990	0	0
ELF1	1997	broad.mit.edu	37	13	41515451	41515451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41515451G>A	ENST00000239882.3	-	8	1176	c.862C>T	c.(862-864)Cag>Tag	p.Q288*	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Nonsense_Mutation_p.Q264*	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	288					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q288*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TCTTTAAACTGATACACCAAG	0.368000													58	185					0	0	0.014410	0	0
ANKRD26	22852	broad.mit.edu	37	10	27323874	27323874	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:27323874C>T	ENST00000376087.4	-	24	3670	c.3505G>A	c.(3505-3507)Gac>Aac	p.D1169N	ANKRD26_ENST00000436985.2_Missense_Mutation_p.D1185N|ANKRD26_ENST00000376070.3_Missense_Mutation_p.D726N	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1168						centrosome		p.D1169N(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGAAACTGGTCTTGGATATTA	0.368000													59	203					0	0	0.014410	0	0
ZNF227	7770	broad.mit.edu	37	19	44739461	44739461	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:44739461G>A	ENST00000313040.7	+	6	1083	c.878G>A	c.(877-879)gGa>gAa	p.G293E	ZNF227_ENST00000391961.2_Missense_Mutation_p.G242E|ZNF227_ENST00000589005.1_Missense_Mutation_p.G242E	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G293E(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ATTCACCCAGGAGAGAAACTC	0.398000													18	43					0	0	0.004990	0	0
MYT1L	23040	broad.mit.edu	37	2	1914091	1914091	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:1914091C>G	ENST00000399161.2	-	13	2485	c.1738G>C	c.(1738-1740)Gag>Cag	p.E580Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.E578Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	580					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E580Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCCAGTTTCTCTGCTGCAGCG	0.592000													5	65					0	0	0.001168	0	0
PIK3R4	30849	broad.mit.edu	37	3	130464024	130464024	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:130464024G>C	ENST00000356763.3	-	2	596	c.39C>G	c.(37-39)atC>atG	p.I13M		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	13					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.I13M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTACAGAAAGGATCTGGGAGG	0.398000													16	99					0	0	0.004990	0	0
SEMG2	6407	broad.mit.edu	37	20	43850714	43850714	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:43850714G>A	ENST00000372769.3	+	2	531	c.441G>A	c.(439-441)ggG>ggA	p.G147G		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	147	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.G147G(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAGATCAGGGGAATAGCCCAT	0.408000													22	65					0	0	0.010504	0	0
EARS2	124454	broad.mit.edu	37	16	23543988	23543988	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:23543988C>T	ENST00000449606.1	-	5	1088	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	EARS2_ENST00000564501.1_Missense_Mutation_p.E353K|EARS2_ENST00000563232.1_Missense_Mutation_p.E353K|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000563459.1_Missense_Mutation_p.E353K	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	353					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	p.E353K(1)		central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CTGTTGAATTCTGGGAGCTTC	0.547000													15	48					0	0	0.003163	0	0
FAM89B	23625	broad.mit.edu	37	11	65341111	65341111	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65341111G>A	ENST00000316409.2	+	2	851	c.530G>A	c.(529-531)tGa>tAa	p.*177*	FAM89B_ENST00000449319.2_3'UTR|FAM89B_ENST00000530349.1_Silent_p.*190*	NM_001098784.1|NM_001098785.1|NM_152832.2	NP_001092254.1|NP_001092255.1|NP_690045.1	Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	0								p.*177*(1)		large_intestine(1)|urinary_tract(2)	3						ATCAGCCTCTGAAGGGCTGGG	0.662000													6	45					0	0	0.010729	0	0
FURIN	5045	broad.mit.edu	37	15	91424753	91424753	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:91424753G>A	ENST00000268171.3	+	16	2309	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	677	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.R677Q(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACTTGCTCCCGGCAAAGCCAG	0.716000													4	22					0	0	0.000602	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214299	140214299	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140214299G>A	ENST00000525929.1	+	1	331	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.E111K|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1												p.E111K(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGATCGTGGAAAGGCCGCT	0.557000													37	351					0	0	0.004878	0	0
ASUN	55726	broad.mit.edu	37	12	27066551	27066551	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:27066551C>T	ENST00000261191.7	-	14	2180	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E	ASUN_ENST00000539625.1_Silent_p.E447E	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	548					cell division|mitosis|regulation of mitotic cell cycle		protein binding	p.E548E(1)									TTTGATGTTTCTCTGAGTTGT	0.418000													115	375					0	0	0.014410	0	0
BCORL1	63035	broad.mit.edu	37	X	129185834	129185834	+	Splice_Site	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:129185834G>A	ENST00000540052.1	+	11	4740		c.e11-1		BCORL1_ENST00000303743.5_Splice_Site|BCORL1_ENST00000218147.7_Splice_Site|BCORL1_ENST00000359304.2_Splice_Site	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.?(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						TCCCCTTACAGAGGAAAAAGA	0.473000													78	292					0	0	0.014410	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307706	39307706	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:39307706T>A	ENST00000541347.1	-	2	534	c.295A>T	c.(295-297)Aat>Tat	p.N99Y	CX3CR1_ENST00000358309.3_Missense_Mutation_p.N131Y|CX3CR1_ENST00000399220.2_Missense_Mutation_p.N99Y|CX3CR1_ENST00000542107.1_Missense_Mutation_p.N99Y	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	99					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.N131Y(1)|p.N99Y(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CACATGGCATTGTGGAGGCCC	0.463000													39	112					0	0	0.007835	0	0
XPR1	9213	broad.mit.edu	37	1	180775240	180775240	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:180775240G>C	ENST00000367590.4	+	5	688	c.490G>C	c.(490-492)Gac>Cac	p.D164H	XPR1_ENST00000367589.3_Missense_Mutation_p.D164H	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	164	SPX.					integral to plasma membrane	G-protein coupled receptor activity	p.D164H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GAAAAAGCATGACAAGATCCT	0.383000													20	65					0	0	0.012319	0	0
ITIH6	347365	broad.mit.edu	37	X	54781511	54781511	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:54781511C>T	ENST00000218436.6	-	9	3170	c.3141G>A	c.(3139-3141)gaG>gaA	p.E1047E		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1047					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.E1047E(1)									CTCCCAGGATCTCCTCAGAAT	0.488000													38	119					0	0	0.005524	0	0
SCAI	286205	broad.mit.edu	37	9	127764247	127764247	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:127764247C>T	ENST00000336505.6	-	12	1199	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.E404K	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.E404K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						ATTGTACCTTCACTATCAGAA	0.473000													46	158					0	0	0.014410	0	0
CELSR3	1951	broad.mit.edu	37	3	48684260	48684260	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:48684260G>A	ENST00000544264.1	-	22	7526	c.7246C>T	c.(7246-7248)Ctc>Ttc	p.L2416F	CELSR3_ENST00000164024.4_Missense_Mutation_p.L2411F			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2411					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.L2411F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGTAAACGAGGAGAATGATA	0.607000													15	42					0	0	0.004007	0	0
DLX2	1746	broad.mit.edu	37	2	172965328	172965328	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:172965328G>C	ENST00000234198.4	-	3	1291	c.930C>G	c.(928-930)caC>caG	p.H310Q	DLX2_ENST00000466293.2_3'UTR	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	310	Poly-His.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H310Q(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGTGGTGGTGGTGATGCGGCT	0.672000													6	38					0	0	0.001984	0	0
OPA1	4976	broad.mit.edu	37	3	193353228	193353228	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:193353228G>A	ENST00000361510.2	+	9	1099	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	OPA1_ENST00000392438.3_Missense_Mutation_p.E234K|OPA1_ENST00000361715.2_Missense_Mutation_p.E253K|OPA1_ENST00000361908.3_Missense_Mutation_p.E271K|OPA1_ENST00000361828.2_Missense_Mutation_p.E252K|OPA1_ENST00000361150.2_Missense_Mutation_p.E235K	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	234					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	p.E289K(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GAGAATCTTGGAACGATTAGA	0.289000													18	120					0	0	0.007413	0	0
MYOG	4656	broad.mit.edu	37	1	203054957	203054957	+	Missense_Mutation	SNP	C	C	T	rs150337281		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:203054957C>T	ENST00000241651.4	-	1	207	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	45					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.E45K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCTGGGGCCTCGGGGCTCAGG	0.652000													27	86					0	0	0.004656	0	0
STX8	9482	broad.mit.edu	37	17	9448576	9448576	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:9448576C>T	ENST00000306357.4	-	4	663	c.236G>A	c.(235-237)aGa>aAa	p.R79K	STX8_ENST00000574431.1_5'UTR	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8						transport	endoplasmic reticulum|integral to plasma membrane		p.R79K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						GAGGTTCTGTCTTCGGTCCCC	0.398000													26	102					0	0	0.009535	0	0
BRAP	8315	broad.mit.edu	37	12	112096587	112096587	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:112096587C>T	ENST00000419234.4	-	9	1367	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	BRAP_ENST00000539060.1_Missense_Mutation_p.E213K|BRAP_ENST00000327551.6_Missense_Mutation_p.E362K	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	392					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	p.E392K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						GTATCCCCCTCACATTCATAC	0.348000													18	73					0	0	0.008871	0	0
KPNA3	3839	broad.mit.edu	37	13	50299581	50299581	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:50299581G>A	ENST00000261667.3	-	7	854	c.440C>T	c.(439-441)tCt>tTt	p.S147F		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	147	NLS binding site (major) (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	p.S147F(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		AGTCTGTGCAGAAGTTCCTGA	0.348000													15	49					0	0	0.004990	0	0
OR10K2	391107	broad.mit.edu	37	1	158390393	158390393	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:158390393C>G	ENST00000314902.2	-	1	263	c.264G>C	c.(262-264)caG>caC	p.Q88H		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q88H(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TGGTCTTCTTCTGGGACAGCA	0.478000													60	172					0	0	0.014410	0	0
SPHK2	56848	broad.mit.edu	37	19	49132817	49132817	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:49132817C>G	ENST00000443164.1	+	5	2643	c.1938C>G	c.(1936-1938)ttC>ttG	p.F646L	SPHK2_ENST00000245222.4_Missense_Mutation_p.F584L|SPHK2_ENST00000598088.1_Missense_Mutation_p.F584L|SPHK2_ENST00000600537.1_Missense_Mutation_p.F525L|SPHK2_ENST00000599748.1_Missense_Mutation_p.F548L|SPHK2_ENST00000599029.1_Missense_Mutation_p.F548L|SPHK2_ENST00000340932.3_Missense_Mutation_p.F546L			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	584					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	p.F584L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGCGCCTTTTCTTGGCCATGG	0.701000													2	6					0	0	0.004672	0	0
C10orf137	26098	broad.mit.edu	37	10	127429114	127429114	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:127429114G>A	ENST00000337623.3	+	15	2067	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	C10orf137_ENST00000356792.4_Silent_p.L688L	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.L654L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACTTCAGCTGATTCTCAAGT	0.413000													21	92					0	0	0.008871	0	0
LRP2	4036	broad.mit.edu	37	2	170083085	170083085	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:170083085G>A	ENST00000263816.3	-	32	5526	c.5241C>T	c.(5239-5241)ttC>ttT	p.F1747F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1747					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.F1747F(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGTTATTAAGAAAGGTTGAT	0.378000													17	64					0	0	0.004007	0	0
CYB561D2	11068	broad.mit.edu	37	3	50391174	50391174	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:50391174G>C	ENST00000418577.1	+	3	1244	c.668G>C	c.(667-669)tGa>tCa	p.*223S	CYB561D2_ENST00000424512.1_Nonstop_Mutation_p.*223S|CYB561D2_ENST00000425346.1_Nonstop_Mutation_p.*223S|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000232508.5_Nonstop_Mutation_p.*223S			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	0					electron transport chain|transport	integral to membrane	metal ion binding	p.*223S(1)		endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATCCAACCATGAGCTCTTCCC	0.557000													21	96					0	0	0.003330	0	0
PANX3	116337	broad.mit.edu	37	11	124482954	124482954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:124482954C>A	ENST00000284288.2	+	2	327	c.260C>A	c.(259-261)tCa>tAa	p.S87*		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	87					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.S87*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGCTGGGACTCACTGCTTCAC	0.557000													18	70					1.56452e-12	1.61972e-12	0.007413	1	0
PDIA5	10954	broad.mit.edu	37	3	122865043	122865043	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:122865043A>T	ENST00000316218.7	+	13	1174	c.1079A>T	c.(1078-1080)aAt>aTt	p.N360I	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	360	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.N360I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TATTTTAAGAATGGAGAGAAA	0.468000													41	303					0	0	0.006230	0	0
ANKRD26	22852	broad.mit.edu	37	10	27323766	27323766	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:27323766C>G	ENST00000376087.4	-	24	3778	c.3613G>C	c.(3613-3615)Gaa>Caa	p.E1205Q	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1221Q|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E762Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1204						centrosome		p.E1205Q(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TACTGTCTTTCTTTTAAGTGA	0.289000													27	67					0	0	0.003954	0	0
JAK1	3716	broad.mit.edu	37	1	65304176	65304176	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:65304176T>A	ENST00000342505.4	-	21	3187	c.2939A>T	c.(2938-2940)cAg>cTg	p.Q980L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	980	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.Q980L(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		ATATTTTAGCTGCTGTTTGAG	0.358000			Mis		ALL								23	92					0	0	0.003954	0	0
NIN	51199	broad.mit.edu	37	14	51196370	51196370	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:51196370C>T	ENST00000245441.5	-	29	6139	c.5949G>A	c.(5947-5949)caG>caA	p.Q1983Q	NIN_ENST00000382043.4_Silent_p.Q1270Q|NIN_ENST00000382041.3_Silent_p.Q1983Q|NIN_ENST00000530997.2_Silent_p.Q1983Q|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000453196.1_Silent_p.Q1983Q|NIN_ENST00000324330.9_3'UTR	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1983					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	p.Q1983Q(2)|p.Q1989Q(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GACAGGCTTGCTGCTGGAGCA	0.582000			T	PDGFRB	MPD								5	19					0	0	0.004482	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781855	128781855	+	Silent	SNP	C	C	T	rs149327599		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:128781855C>T	ENST00000529694.1	+	2	1063	c.687C>T	c.(685-687)atC>atT	p.I229I	KCNJ5_ENST00000338350.4_Silent_p.I229I|KCNJ5_ENST00000533599.1_Silent_p.I229I	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	229					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.I229I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ACTCCCACATCGTGGAGGCCT	0.592000													38	119					0	0	0.006230	0	0
ATP5A1	498	broad.mit.edu	37	18	43669842	43669842	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:43669842C>T	ENST00000593152.2	-	4	819	c.280G>A	c.(280-282)Gag>Aag	p.E94K	ATP5A1_ENST00000398752.6_Missense_Mutation_p.E144K|ATP5A1_ENST00000282050.2_Missense_Mutation_p.E144K|ATP5A1_ENST00000590665.1_Intron	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	144					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.E144K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AACAGCTCCTCACCAACTGGA	0.418000													19	78					0	0	0.008871	0	0
MPV17L2	84769	broad.mit.edu	37	19	18305832	18305832	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:18305832G>C	ENST00000599612.2	+	4	600	c.500G>C	c.(499-501)cGa>cCa	p.R167P		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	167						integral to membrane		p.R167P(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4						CCCCAATTTCGAGTCACCTAC	0.642000													26	96					0	0	0.012213	0	0
BNC2	54796	broad.mit.edu	37	9	16435866	16435866	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:16435866C>A	ENST00000380672.4	-	6	2383	c.2326G>T	c.(2326-2328)Gaa>Taa	p.E776*	BNC2_ENST00000545497.1_Nonsense_Mutation_p.E681*|BNC2_ENST00000380666.2_Nonsense_Mutation_p.E776*|BNC2_ENST00000380667.2_Nonsense_Mutation_p.E709*	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.E776*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTAAATTCTTCCTTCACCTTG	0.498000													22	57					3.62473e-10	3.73614e-10	0.012319	1	0
C12orf39	80763	broad.mit.edu	37	12	21680080	21680080	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:21680080G>A	ENST00000256969.2	+	3	265	c.99G>A	c.(97-99)gaG>gaA	p.E33E		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN	chromosome 12 open reading frame 39	33						extracellular region|nucleus|transport vesicle		p.E33E(1)		endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						GACTGTTGGAGAGAAGGAACT	0.433000													34	133					0	0	0.003271	0	0
FER	2241	broad.mit.edu	37	5	108281850	108281850	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:108281850C>G	ENST00000281092.4	+	11	1640	c.1256C>G	c.(1255-1257)tCc>tGc	p.S419C	FER_ENST00000536402.1_Missense_Mutation_p.P315A|FER_ENST00000438717.2_Missense_Mutation_p.S244C	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	419					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.S419C(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GAGAGGCTATCCAAATTTGAA	0.378000													32	112					0	0	0.004878	0	0
PLCG2	5336	broad.mit.edu	37	16	81934316	81934316	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:81934316G>A	ENST00000359376.3	+	14	1507	c.1293G>A	c.(1291-1293)acG>acA	p.T431T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	431	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.T431T(4)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGCTGTTGACGAAGCCCACGG	0.612000													19	54					0	0	0.007413	0	0
MEP1B	4225	broad.mit.edu	37	18	29795197	29795197	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:29795197G>A	ENST00000269202.6	+	12	1779	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	MEP1B_ENST00000581447.1_Missense_Mutation_p.D578N	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	578	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.D578N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAAAGGAGATGATGTTTATAT	0.348000													3	40					0	0	0.004672	0	0
HMCES	56941	broad.mit.edu	37	3	129023525	129023525	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:129023525G>C	ENST00000383463.4	+	7	1011	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	HMCES_ENST00000389735.3_Missense_Mutation_p.E308Q|HMCES_ENST00000417226.2_Missense_Mutation_p.E266Q|HMCES_ENST00000502878.2_Missense_Mutation_p.E308Q	NM_020187.2	NP_064572.2			5-hydroxymethylcytosine (hmC) binding, ES cell-specific	308								p.E308Q(1)									TCAAAAGGAAGAGTCAGATGT	0.532000													32	135					0	0	0.012213	0	0
PHKA2	5256	broad.mit.edu	37	X	18926150	18926150	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:18926150G>C	ENST00000379942.4	-	22	3050	c.2385C>G	c.(2383-2385)ctC>ctG	p.L795L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	795					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.L795L(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)					GCTGTCCAGAGAGATTTGTGT	0.517000													67	321					0	0	0.014410	0	0
GPR17	2840	broad.mit.edu	37	2	128408370	128408370	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:128408370G>C	ENST00000544369.1	+	4	756	c.145G>C	c.(145-147)Gag>Cag	p.E49Q	GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.E49Q|GPR17_ENST00000393018.3_Missense_Mutation_p.E49Q|LIMS2_ENST00000355119.4_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	49						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.E49Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		ggccacggcagagcaatgtgg	0.547000											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	127					0	0	0.007291	0	0
COL24A1	255631	broad.mit.edu	37	1	86554904	86554904	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:86554904G>C	ENST00000370571.2	-	7	2026	c.1660C>G	c.(1660-1662)Caa>Gaa	p.Q554E	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q554E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	554	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent	p.Q554E(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GAAAGGCCTTGATCACCCTAT	0.323000													24	72					0	0	0.006320	0	0
ATP2B4	493	broad.mit.edu	37	1	203667370	203667370	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:203667370C>G	ENST00000357681.5	+	3	1402	c.279C>G	c.(277-279)ttC>ttG	p.F93L	ATP2B4_ENST00000367219.3_Missense_Mutation_p.F93L|ATP2B4_ENST00000341360.2_Missense_Mutation_p.F93L|ATP2B4_ENST00000367218.3_Missense_Mutation_p.F93L|ATP2B4_ENST00000391954.2_Missense_Mutation_p.F93L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	93					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.F93L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAAGACTTTCTTAGAATTAG	0.502000													26	83					0	0	0.004656	0	0
GOLIM4	27333	broad.mit.edu	37	3	167759263	167759263	+	Splice_Site	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:167759263C>G	ENST00000470487.1	-	6	1207		c.e6-1		GOLIM4_ENST00000309027.4_Splice_Site	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4						transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		p.?(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TATACAGTCTCTATTTTAGAA	0.318000													12	81					0	0	0.010729	0	0
THBS3	7059	broad.mit.edu	37	1	155172609	155172609	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:155172609G>A	ENST00000368378.3	-	8	971	c.951C>T	c.(949-951)atC>atT	p.I317I	THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000457183.2_Silent_p.I197I	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	317	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	p.I317I(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACCTCATTGATGTCACTGC	0.612000													34	96					0	0	0.003755	0	0
SBP1	0	broad.mit.edu	37	6	33663418	33663418	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:33663418C>G	ENST00000594414.1	-	1	56	c.57G>C	c.(55-57)aaG>aaC	p.K19N	ITPR3_ENST00000605930.1_Intron|ITPR3_ENST00000374316.5_Intron																							GTGCCAAGCTCTTCCACAGCA	0.642000													68	46					0	0	0.014410	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706332	41706332	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41706332C>G	ENST00000379485.1	-	1	550	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	KBTBD6_ENST00000499385.2_Intron	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	106	BTB.						protein binding	p.E106Q(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)		TGCTGGCTCTCGTACATGCCA	0.622000													17	59					0	0	0.004007	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349660	36349660	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:36349660G>C	ENST00000360202.5	+	4	614	c.416G>C	c.(415-417)gGa>gCa	p.G139A	KIRREL2_ENST00000347900.6_Missense_Mutation_p.G89A|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G139A|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G139A	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	139	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane		p.G139A(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGTTGCTGGAGTTCCTGCG	0.617000													34	118					0	0	0.004289	0	0
NBEA	26960	broad.mit.edu	37	13	36229746	36229746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:36229746G>A	ENST00000400445.3	+	54	8693	c.8159G>A	c.(8158-8160)tGg>tAg	p.W2720*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.W2717*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.W2720*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.W298*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.W513*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.W2720*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2720						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.W2720*(1)|p.W2720L(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTGGCCATTGGGATGTGGTC	0.458000													61	214					0	0	0.014410	0	0
ZNF395	55893	broad.mit.edu	37	8	28206244	28206244	+	Missense_Mutation	SNP	G	G	C	rs12545851		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:28206244G>C	ENST00000344423.5	-	10	1665	c.1534C>G	c.(1534-1536)Ctg>Gtg	p.L512V	ZNF395_ENST00000523095.1_Missense_Mutation_p.L512V|ZNF395_ENST00000523202.1_Missense_Mutation_p.L512V	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	512					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.L512V(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GCTCAGTCCAGAAAGCGCTGG	0.622000													14	60					0	0	0.008871	0	0
COL7A1	1294	broad.mit.edu	37	3	48621376	48621376	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:48621376C>T	ENST00000328333.8	-	38	4342	c.4235G>A	c.(4234-4236)gGa>gAa	p.G1412E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1412E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1412	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G1412E(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCACCTGGTCCAGGGGGACC	0.652000													9	56					0	0	0.004482	0	0
ZIC3	7547	broad.mit.edu	37	X	136649816	136649816	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:136649816C>G	ENST00000287538.5	+	1	1516	c.966C>G	c.(964-966)caC>caG	p.H322Q	ZIC3_ENST00000370606.3_Missense_Mutation_p.H322Q	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	322	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H322Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					TCCGAGTGCACACGGGCGAGA	0.597000													55	186					0	0	0.014410	0	0
AE000661.37	0	broad.mit.edu	37	14	22938145	22938145	+	RNA	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:22938145C>G	ENST00000514473.2	-	0	225				TRDV3_ENST00000535880.2_RNA|AE000661.37_ENST00000556777.1_RNA																							TGAGTAAAATCTGCACCTTCT	0.413000													28	78					0	0	0.007291	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96587533	96587533	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:96587533C>T	ENST00000456556.1	-	33	2253	c.2169G>A	c.(2167-2169)ttG>ttA	p.L723L	ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000419039.2_5'UTR					ankyrin repeat domain 36C									p.L723L(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TAATTACCTTCAAGGCTGGTT	0.284000													5	19					0	0	0.000602	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88190360	88190360	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:88190360C>T	ENST00000357081.3	-	25	3517	c.3373G>A	c.(3373-3375)Gag>Aag	p.E1125K	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.E1137K|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.E1085K			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1125					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.E1085K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCTCCCATCTCTTCCAGTTCT	0.363000													30	84					0	0	0.013726	0	0
TOP1	7150	broad.mit.edu	37	20	39708734	39708734	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:39708734A>T	ENST00000361337.2	+	6	595	c.345A>T	c.(343-345)caA>caT	p.Q115H		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	115	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	p.Q115H(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GTCCACCACAAATTAAAGATG	0.348000			T	NUP98	AML*								13	52					0	0	0.002450	0	0
CDH24	64403	broad.mit.edu	37	14	23524387	23524387	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:23524387G>A	ENST00000397359.3	-	3	636	c.377C>T	c.(376-378)tCc>tTc	p.S126F	CDH24_ENST00000267383.5_Missense_Mutation_p.S126F|CDH24_ENST00000487137.2_Missense_Mutation_p.S126F|CDH24_ENST00000554034.1_Missense_Mutation_p.S126F	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	126	Cadherin 1.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	p.S126F(2)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGCCGGTTGGAGGCTCGGTC	0.552000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	131					0	0	0.010504	0	0
BCOR	54880	broad.mit.edu	37	X	39933287	39933287	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:39933287C>T	ENST00000342274.4	-	4	1674	c.1312G>A	c.(1312-1314)Gat>Aat	p.D438N	BCOR_ENST00000378455.4_Missense_Mutation_p.D438N|BCOR_ENST00000378444.4_Missense_Mutation_p.D438N|BCOR_ENST00000397354.3_Missense_Mutation_p.D438N	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	438					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.D438N(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						AGTGGCTTATCTGTGACGTCT	0.532000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						18	67					0	0	0.008871	0	0
KIF1C	10749	broad.mit.edu	37	17	4925875	4925875	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4925875C>G	ENST00000320785.5	+	22	2856	c.2499C>G	c.(2497-2499)ctC>ctG	p.L833L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	833					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	p.L833L(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TGGAGGACCTCCGGGCCCACA	0.672000													5	12					0	0	0.000602	0	0
SPATS1	221409	broad.mit.edu	37	6	44310891	44310891	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:44310891C>G	ENST00000288390.2	+	1	406	c.59C>G	c.(58-60)tCa>tGa	p.S20*	SPATS1_ENST00000323108.8_Nonsense_Mutation_p.S20*|RP11-444E17.6_ENST00000505802.1_Intron			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	20								p.S20*(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCTCCATCTCAAGCACGACC	0.512000													16	72					0	0	0.003163	0	0
POLD2	5425	broad.mit.edu	37	7	44157622	44157622	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:44157622C>T	ENST00000406581.2	-	4	911	c.262G>A	c.(262-264)Gag>Aag	p.E88K	POLD2_ENST00000452185.1_Missense_Mutation_p.E88K|POLD2_ENST00000223361.3_Missense_Mutation_p.E88K	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	88					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	p.E88K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CACTTCTCCTCAGGCTGCAGT	0.622000													25	93					0	0	0.003954	0	0
MOV10L1	54456	broad.mit.edu	37	22	50563987	50563987	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:50563987C>T	ENST00000262794.5	+	11	1819	c.1736C>T	c.(1735-1737)tCt>tTt	p.S579F	MOV10L1_ENST00000545383.1_Missense_Mutation_p.S579F|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.S579F|MOV10L1_ENST00000540615.1_Missense_Mutation_p.S559F	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	579					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.S579F(1)|p.S559F(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGGAGGCCTTCTCTCTACGCA	0.473000													24	85					0	0	0.004656	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303655	151303655	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:151303655G>C	ENST00000370323.4	-	4	754	c.438C>G	c.(436-438)ctC>ctG	p.L146L	MAGEA10_ENST00000244096.3_Silent_p.L146L|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	146	MAGE.							p.L146L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GATACTTGAAGAGCAGAAACT	0.443000													67	183					0	0	0.014410	0	0
DNAJB11	51726	broad.mit.edu	37	3	186299204	186299204	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:186299204G>A	ENST00000439351.1	+	6	1430	c.501G>A	c.(499-501)cgG>cgA	p.R167R	DNAJB11_ENST00000265028.3_Silent_p.R167R			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	167					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.R167R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CTGGCAAACGGAAGTGCAATT	0.517000													24	158					0	0	0.003330	0	0
NOL4	8715	broad.mit.edu	37	18	31709969	31709969	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:31709969C>G	ENST00000261592.5	-	2	577	c.280G>C	c.(280-282)Gat>Cat	p.D94H	NOL4_ENST00000589544.1_Missense_Mutation_p.D94H|NOL4_ENST00000538587.1_Missense_Mutation_p.D20H|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000269185.4_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	94						nucleolus	RNA binding	p.D94H(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGCTTCTCATCTACCCCTACG	0.353000													18	56					0	0	0.007413	0	0
PPP1CA	5499	broad.mit.edu	37	11	67166318	67166318	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67166318C>T	ENST00000376745.4	-	6	905	c.757G>A	c.(757-759)Gac>Aac	p.D253N	PPP1CA_ENST00000358239.4_Missense_Mutation_p.D209N|PPP1CA_ENST00000312989.7_Missense_Mutation_p.D264N|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	253					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	p.D264N(1)|p.D253N(1)|p.D350N(1)		breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCGTAGCCGTCTTCTACCACC	0.627000													33	84					0	0	0.006230	0	0
SCN9A	6335	broad.mit.edu	37	2	167160597	167160597	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:167160597G>A	ENST00000375387.4	-	6	975	c.635C>T	c.(634-636)tCa>tTa	p.S212L	SCN9A_ENST00000409672.1_Intron|SCN9A_ENST00000303354.6_Intron|SCN9A_ENST00000409435.1_Intron			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	211						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTCAATGCTGAGACATTGCC	0.433000													16	45					0	0	0.004007	0	0
SPRR2F	6705	broad.mit.edu	37	1	153085095	153085095	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:153085095A>G	ENST00000468739.1	-	2	175	c.115T>C	c.(115-117)Tca>Cca	p.S39P	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	39	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				keratinization	cornified envelope|cytoplasm		p.S39P(1)		large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACACTTTGATGGTGGGCAG	0.632000													70	282					0	0	0.014410	0	0
F2RL3	9002	broad.mit.edu	37	19	17000940	17000940	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:17000940C>T	ENST00000248076.3	+	2	996	c.666C>T	c.(664-666)cgC>cgT	p.R222R		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	222					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	p.R222R(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGCTGGCGCGCTCCGATCGCG	0.706000													8	18					0	0	0.004482	0	0
MARCH2	51257	broad.mit.edu	37	19	8503337	8503337	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:8503337G>A	ENST00000602117.1	+	5	1103	c.648G>A	c.(646-648)ctG>ctA	p.L216L	MARCH2_ENST00000393944.1_Silent_p.L216L|MARCH2_ENST00000215555.2_Silent_p.L216L|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000381035.4_Silent_p.L146L			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	216					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	p.L146L(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						AAGTTCGCCTGAAGATCCGGG	0.617000													30	75					0	0	0.007291	0	0
ARID1A	8289	broad.mit.edu	37	1	27106166	27106166	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:27106166G>C	ENST00000324856.7	+	20	6148	c.5777G>C	c.(5776-5778)gGa>gCa	p.G1926A	ARID1A_ENST00000374152.2_Missense_Mutation_p.G1543A|ARID1A_ENST00000540690.1_Missense_Mutation_p.G254A|ARID1A_ENST00000457599.2_Missense_Mutation_p.G1709A	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1926					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1926A(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCGAGGATGGAGCTAAGAGT	0.542000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								47	143					0	0	0.014410	0	0
MIP	4284	broad.mit.edu	37	12	56848060	56848060	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:56848060C>G	ENST00000257979.4	-	1	366	c.338G>C	c.(337-339)cGa>cCa	p.R113P	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	113					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	p.R113P(1)|p.R113Q(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						TAGGTTTCCTCGGACAGCAGG	0.597000													16	60					0	0	0.003163	0	0
NR4A2	4929	broad.mit.edu	37	2	157186256	157186256	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:157186256G>C	ENST00000339562.4	-	3	805	c.443C>G	c.(442-444)tCt>tGt	p.S148C	NR4A2_ENST00000539077.1_Missense_Mutation_p.S159C|NR4A2_ENST00000429376.1_Missense_Mutation_p.S85C|NR4A2_ENST00000409108.2_Missense_Mutation_p.S148C|NR4A2_ENST00000426264.1_Missense_Mutation_p.S85C|NR4A2_ENST00000409572.1_Missense_Mutation_p.S148C	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	148	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.S148C(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GTTGTGGAGAGATCCCGGGTC	0.622000													51	157					0	0	0.014410	0	0
GPR98	84059	broad.mit.edu	37	5	90449160	90449160	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:90449160G>A	ENST00000405460.2	+	89	18843	c.18747G>A	c.(18745-18747)ctG>ctA	p.L6249L	GPR98_ENST00000425867.2_Silent_p.L1910L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6249					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.L6249L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGGGTCACTGATAGCCGATG	0.478000													5	27					0	0	0.000602	0	0
CAMK2G	818	broad.mit.edu	37	10	75574801	75574801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:75574801G>A	ENST00000423381.1	-	22	1862	c.1739C>T	c.(1738-1740)tCa>tTa	p.S580L	CAMK2G_ENST00000322680.3_Missense_Mutation_p.S548L|CAMK2G_ENST00000305762.7_Missense_Mutation_p.S521L|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000351293.3_Missense_Mutation_p.S487L|CAMK2G_ENST00000394762.2_Missense_Mutation_p.S525L|CAMK2G_ENST00000322635.3_Missense_Mutation_p.S519L|CAMK2G_ENST00000372765.1_Missense_Mutation_p.S508L	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	550					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	p.S487L(1)|p.S548L(1)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					AGGGGCCCCTGAGCAGTGATA	0.657000													10	19					0	0	0.010729	0	0
GOLGB1	2804	broad.mit.edu	37	3	121400701	121400701	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:121400701C>G	ENST00000393667.3	-	15	8816	c.8706G>C	c.(8704-8706)ttG>ttC	p.L2902F	GOLGB1_ENST00000340645.5_Missense_Mutation_p.L2897F	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2897					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.L2897F(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCAGATTCTTCAATTCCTTCA	0.368000													19	148					0	0	0.006122	0	0
CHD8	57680	broad.mit.edu	37	14	21863460	21863460	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:21863460C>T	ENST00000399982.2	-	28	5243	c.5179G>A	c.(5179-5181)Gaa>Aaa	p.E1727K	CHD8_ENST00000430710.3_Missense_Mutation_p.E1448K|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.E1727K	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1727					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.E1727K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGTTTACCTTCATCTCCATCA	0.468000													7	24					0	0	0.001984	0	0
CCL3	6348	broad.mit.edu	37	17	34416051	34416051	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:34416051C>G	ENST00000225245.5	-	3	328	c.246G>C	c.(244-246)caG>caC	p.Q82H	AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000590992.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	82					cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity	p.Q82H(1)		breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGACATATTTCTGGACCCACT	0.617000													43	161					0	0	0.010771	0	0
LIPI	149998	broad.mit.edu	37	21	15561577	15561577	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:15561577G>A	ENST00000344577.2	-	2	298	c.273C>T	c.(271-273)ttC>ttT	p.F91F	LIPI_ENST00000536861.1_Silent_p.F70F	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	70					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.F91F(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)		TTTGTGTGTTGAAATTAACAT	0.383000													31	89					0	0	0.010818	0	0
PRSS48	345062	broad.mit.edu	37	4	152204409	152204409	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:152204409G>T	ENST00000455694.2	+	4	624	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.D65Y	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	208	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.D217Y(1)|p.D208Y(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TTGTGCTGGTGATACTCAAAA	0.418000													22	81					1.28384e-07	1.31464e-07	0.012319	1	0
YAP1	10413	broad.mit.edu	37	11	102100669	102100669	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:102100669T>C	ENST00000282441.5	+	9	1901	c.1513T>C	c.(1513-1515)Tag>Cag	p.*505Q	YAP1_ENST00000537274.1_Nonstop_Mutation_p.*493Q|YAP1_ENST00000345877.2_Nonstop_Mutation_p.*455Q|YAP1_ENST00000531439.1_Nonstop_Mutation_p.*489Q|YAP1_ENST00000524575.1_Nonstop_Mutation_p.*327Q|YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000526343.1_Nonstop_Mutation_p.*451Q|RP11-864G5.3_ENST00000526310.1_RNA	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	0					cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	p.*505Q(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TACATGGTTATAGAGCCCTCA	0.433000													53	116					0	0	0.014410	0	0
MALAT1	378938	broad.mit.edu	37	11	65271095	65271095	+	RNA	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65271095G>C	ENST00000534336.1	+	0	5863					NR_002819.2																						TTTTATTAGAGAATGTATACT	0.299000													16	43					0	0	0.003163	0	0
TRIM59	286827	broad.mit.edu	37	3	160156857	160156857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:160156857G>A	ENST00000543469.1	-	2	329	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	TRIM59_ENST00000309784.4_Nonsense_Mutation_p.Q39*|RP11-432B6.3_ENST00000483754.1_Nonsense_Mutation_p.Q39*			Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	39						integral to membrane|intracellular	zinc ion binding	p.Q39*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCAGATGCCTGAAGAATGTTT	0.368000													18	131					0	0	0.008871	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166037	161166037	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:161166037G>A	ENST00000367996.5	-	3	1442	c.1014C>T	c.(1012-1014)gtC>gtT	p.V338V	ADAMTS4_ENST00000367995.3_3'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4		Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.V338V(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCGGGTCACAGACGGTGCCCA	0.567000													12	53					0	0	0.002450	0	0
NAV3	89795	broad.mit.edu	37	12	78225383	78225383	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:78225383G>T	ENST00000397909.2	+	1	315	c.142G>T	c.(142-144)Gag>Tag	p.E48*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.E48*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.E48*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E48*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	48						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.E48*(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TACTGAAACAGAGAGCTCCAT	0.453000										HNSCC(70;0.22)			34	115					8.16721e-17	8.50223e-17	0.010818	1	0
NUP188	23511	broad.mit.edu	37	9	131745618	131745618	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:131745618G>A	ENST00000372577.2	+	18	1864	c.1843G>A	c.(1843-1845)Gtc>Atc	p.V615I		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	615					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.V615I(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCTTCTTGTGTCAACTGCTT	0.443000													26	129					0	0	0.007291	0	0
PTPRU	10076	broad.mit.edu	37	1	29609213	29609213	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:29609213G>A	ENST00000323874.8	+	12	2004	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.E632K|PTPRU_ENST00000460170.2_Missense_Mutation_p.E632K|PTPRU_ENST00000345512.3_Missense_Mutation_p.E632K|PTPRU_ENST00000356870.3_Missense_Mutation_p.E632K|PTPRU_ENST00000373779.3_Missense_Mutation_p.E632K			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	632	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.E632K(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGTGGAGGAGGAGCGGGCGCG	0.652000													16	47					0	0	0.008871	0	0
NUP210	23225	broad.mit.edu	37	3	13393439	13393439	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:13393439G>C	ENST00000254508.5	-	20	2857	c.2775C>G	c.(2773-2775)ctC>ctG	p.L925L		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	925					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.L925L(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGCTGGTGTTGAGGAAGAAGT	0.617000													20	72					0	0	0.008871	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55610164	55610164	+	Silent	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:55610164C>A	ENST00000263433.3	-	6	954	c.939G>T	c.(937-939)cgG>cgT	p.R313R	PPP1R12C_ENST00000376393.2_Silent_p.R313R|PPP1R12C_ENST00000435544.2_Silent_p.R239R	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	313						cytoplasm		p.R313R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTCCTGTTTCCGGGCCAGTT	0.637000													22	86					4.4004e-07	4.50106e-07	0.003330	1	0
SKAP1	8631	broad.mit.edu	37	17	46239837	46239837	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:46239837C>G	ENST00000336915.6	-	11	1041	c.972G>C	c.(970-972)ctG>ctC	p.L324L	SKAP1_ENST00000584924.1_Silent_p.L324L	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	324	SH3.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	p.L324L(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TTACCTTGCTCAGAATACGGA	0.433000													10	43					0	0	0.006214	0	0
TNFSF11	8600	broad.mit.edu	37	13	43180957	43180957	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:43180957G>C	ENST00000398795.2	+	5	1006	c.638G>C	c.(637-639)gGa>gCa	p.G213A	TNFSF11_ENST00000544862.1_Missense_Mutation_p.G213A|TNFSF11_ENST00000358545.2_Missense_Mutation_p.G213A|TNFSF11_ENST00000239849.6_Missense_Mutation_p.G286A|TNFSF11_ENST00000405262.2_Missense_Mutation_p.G213A	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	286					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	p.G286A(1)		kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TTACGGTCTGGAGAGGAAATC	0.433000													36	135					0	0	0.004289	0	0
ME3	10873	broad.mit.edu	37	11	86160971	86160971	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:86160971C>T	ENST00000543262.1	-	10	1417	c.1091G>A	c.(1090-1092)aGa>aAa	p.R364K	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.R364K|ME3_ENST00000393324.3_Missense_Mutation_p.R364K	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	364					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	p.R364K(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CCAGATCTTTCTTGTGGCCTC	0.522000													48	145					0	0	0.014410	0	0
CCDC144NL-AS1	440416	broad.mit.edu	37	17	20859999	20859999	+	RNA	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:20859999G>A	ENST00000582583.1	+	0	675				RP11-344E13.3_ENST00000423473.2_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000581958.1_RNA|RP11-344E13.3_ENST00000579168.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000433763.2_RNA|RP11-344E13.3_ENST00000437829.1_RNA|RP11-344E13.3_ENST00000584433.1_RNA																							CAGACCTGTGGATGAAGAGCC	0.473000													9	32					0	0	0.006214	0	0
D2HGDH	728294	broad.mit.edu	37	2	242707248	242707248	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:242707248G>C	ENST00000321264.4	+	10	1639	c.1430G>C	c.(1429-1431)gGa>gCa	p.G477A	D2HGDH_ENST00000403782.1_Missense_Mutation_p.G343A|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	477					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	p.G477A(1)		breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCGGAGCACGGAGTGGGCTTC	0.701000													5	16					0	0	0.001168	0	0
PKLR	5313	broad.mit.edu	37	1	155264172	155264172	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:155264172C>T	ENST00000392414.3	-	7	990	c.877G>A	c.(877-879)Gat>Aat	p.D293N	PKLR_ENST00000342741.4_Missense_Mutation_p.D324N	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	324			D -> N (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.D324N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGATTTCATCAAACCTGAGA	0.562000													15	51					0	0	0.004990	0	0
UTP23	84294	broad.mit.edu	37	8	117782565	117782565	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:117782565T>C	ENST00000309822.2	+	2	424	c.323T>C	c.(322-324)gTt>gCt	p.V108A	UTP23_ENST00000357148.3_Missense_Mutation_p.V108A|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Missense_Mutation_p.V2A	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	108					rRNA processing	nucleolus		p.V108A(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CTTTCCATGGTTGAAGAGGGA	0.373000													26	154					0	0	0.007291	0	0
ITGB1	3688	broad.mit.edu	37	10	33200926	33200926	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:33200926G>A	ENST00000396033.2	-	12	1731	c.1596C>T	c.(1594-1596)gtC>gtT	p.V532V	ITGB1_ENST00000374956.4_Silent_p.V532V|ITGB1_ENST00000302278.3_Silent_p.V532V|ITGB1_ENST00000423113.1_Silent_p.V532V	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	532	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	p.V532V(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACTGTCCGCAGACGCACTCTC	0.398000													48	129					0	0	0.014410	0	0
RGS2	5997	broad.mit.edu	37	1	192780193	192780193	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:192780193C>G	ENST00000235382.5	+	4	388	c.357C>G	c.(355-357)ttC>ttG	p.F119L		NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	119	RGS.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	p.F119L(1)		large_intestine(3)|lung(1)|urinary_tract(1)	5						GTGAAGACTTCAAAAAAACCA	0.398000													49	117					0	0	0.014410	0	0
ZNF222	7673	broad.mit.edu	37	19	44537161	44537161	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:44537161C>G	ENST00000187879.8	+	4	1496	c.1334C>G	c.(1333-1335)tCa>tGa	p.S445*	ZNF222_ENST00000391960.3_Nonsense_Mutation_p.S485*|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S485*(1)|p.S445*(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				ATAATTTTATCAttattttta	0.333000													6	31					0	0	0.001168	0	0
TDRD1	56165	broad.mit.edu	37	10	115985891	115985891	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:115985891G>A	ENST00000251864.2	+	22	3244	c.3091G>A	c.(3091-3093)Gaa>Aaa	p.E1031K	TDRD1_ENST00000422662.1_Missense_Mutation_p.E635K|TDRD1_ENST00000369280.1_Missense_Mutation_p.E1031K|TDRD1_ENST00000369282.1_Missense_Mutation_p.E1031K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E917K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1031	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.E1031K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGGAAACATTGAAACCCTGCC	0.438000													28	67					0	0	0.008361	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160260433	160260433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:160260433G>T	ENST00000264431.4	+	13	2397	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	660	Ras-associating.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.E648*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGTCACACCTGAGGGAGTAAT	0.433000													50	202					4.86159e-25	5.08356e-25	0.014410	1	0
IGF2	3481	broad.mit.edu	37	11	2154279	2154279	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:2154279G>C	ENST00000416167.2	-	4	1647	c.481C>G	c.(481-483)Cta>Gta	p.L161V	IGF2_ENST00000381406.4_Missense_Mutation_p.L164V|IGF2_ENST00000381392.1_Missense_Mutation_p.L164V|IGF2_ENST00000418738.2_Missense_Mutation_p.L161V|IGF2_ENST00000381395.1_Missense_Mutation_p.L161V|IGF2_ENST00000381389.1_Missense_Mutation_p.L161V|IGF2_ENST00000434045.2_Missense_Mutation_p.L217V|IGF2_ENST00000300632.5_Missense_Mutation_p.L161V			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	161					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	p.L161V(1)|p.L217V(1)		central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TGGGTGGGTAGAGCAATCAGG	0.692000													25	98					0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179472934	179472934	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:179472934G>A	ENST00000589042.1	-	275	52900	c.52676C>T	c.(52675-52677)tCa>tTa	p.S17559L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S8686L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S15918L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S14991L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S8619L|TTN_ENST00000460472.2_Missense_Mutation_p.S8494L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15918	Fibronectin type-III 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S14991L(2)|p.S8619L(1)|p.S8494L(1)|p.S8686L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGGATCTGAAGGTGGACT	0.418000													9	21					0	0	0.006214	0	0
MUC21	394263	broad.mit.edu	37	6	30954371	30954371	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:30954371C>G	ENST00000376296.3	+	2	660	c.419C>G	c.(418-420)tCc>tGc	p.S140C	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	140	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S140C(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AACTCTGACTCCAGCACAACC	0.607000													52	222					0	0	0.014410	0	0
KPNA3	3839	broad.mit.edu	37	13	50276524	50276524	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:50276524C>T	ENST00000261667.3	-	16	1879	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	489					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	p.D489N(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTACTTACATCATCACCAGAG	0.274000													9	42					0	0	0.008291	0	0
RSL1D1	26156	broad.mit.edu	37	16	11940562	11940562	+	Translation_Start_Site	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:11940562G>C	ENST00000542106.1	-	0	450				RSL1D1_ENST00000571133.1_Missense_Mutation_p.Q175E			O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1						regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.Q175E(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTCTTTCTTTGATAGAAATGT	0.413000													85	262					0	0	0.014410	0	0
HAUS3	79441	broad.mit.edu	37	4	2233842	2233842	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:2233842G>C	ENST00000243706.4	-	5	1853	c.1624C>G	c.(1624-1626)Cta>Gta	p.L542V	HAUS3_ENST00000443786.2_Missense_Mutation_p.L542V|HAUS3_ENST00000506763.1_Intron|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	542					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.L542V(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGATGATTTAGCTTATTCAGT	0.264000													10	60					0	0	0.013537	0	0
ALMS1	7840	broad.mit.edu	37	2	73677000	73677000	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:73677000C>G	ENST00000264448.6	+	8	3454	c.3343C>G	c.(3343-3345)Ctg>Gtg	p.L1115V	ALMS1_ENST00000377715.1_Missense_Mutation_p.L1115V|ALMS1_ENST00000409009.1_Missense_Mutation_p.L1073V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1115	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.L1115V(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGAGAGTCATCTGCCTAAAGA	0.468000													81	231					0	0	0.014410	0	0
C19orf44	84167	broad.mit.edu	37	19	16611956	16611956	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:16611956C>G	ENST00000221671.3	+	2	509	c.353C>G	c.(352-354)tCt>tGt	p.S118C	C19orf44_ENST00000594035.1_Missense_Mutation_p.S118C|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	118								p.S118C(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GACACGGAATCTGACTCAATG	0.552000													44	97					0	0	0.010771	0	0
MAGI2	9863	broad.mit.edu	37	7	77885556	77885556	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:77885556G>A	ENST00000354212.4	-	10	2004	c.1751C>T	c.(1750-1752)cCg>cTg	p.P584L	MAGI2_ENST00000419488.1_Missense_Mutation_p.P584L|MAGI2_ENST00000535697.1_Missense_Mutation_p.P421L|MAGI2_ENST00000536571.1_Missense_Mutation_p.P416L|MAGI2_ENST00000522391.1_Missense_Mutation_p.P584L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	584						cell junction|synapse|synaptosome	phosphatase binding	p.P584L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATGGACGGGCGGTGGATACGT	0.527000													7	53					0	0	0.004482	0	0
KIAA0100	9703	broad.mit.edu	37	17	26945942	26945942	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:26945942C>T	ENST00000528896.2	-	32	5764	c.5690G>A	c.(5689-5691)cGa>cAa	p.R1897Q	KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1754Q|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1754Q	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1897						extracellular region		p.R1897Q(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTGCTGCTTTCGCAGCTCCAT	0.527000													18	71					0	0	0.014323	0	0
SPIDR	23514	broad.mit.edu	37	8	48641538	48641538	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:48641538C>T	ENST00000297423.4	+	18	2863	c.2479C>T	c.(2479-2481)Cct>Tct	p.P827S	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518060.1_Missense_Mutation_p.P29S|SPIDR_ENST00000541342.1_Missense_Mutation_p.P757S|SPIDR_ENST00000518074.1_Missense_Mutation_p.P767S|SPIDR_ENST00000517693.1_Missense_Mutation_p.P302S	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1			scaffolding protein involved in DNA repair									p.P827S(1)									GGTCACATCTCCTGTTCTCAA	0.592000													24	91					0	0	0.003954	0	0
ZBTB11	27107	broad.mit.edu	37	3	101390113	101390113	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:101390113G>A	ENST00000312938.4	-	3	1219	c.639C>T	c.(637-639)ttC>ttT	p.F213F	ZBTB11_ENST00000461821.1_3'UTR	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F213F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAACATCACAGAACTGGTTGG	0.373000													34	211					0	0	0.003271	0	0
C12orf50	160419	broad.mit.edu	37	12	88391905	88391905	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:88391905G>C	ENST00000298699.2	-	4	376	c.196C>G	c.(196-198)Ctg>Gtg	p.L66V	C12orf50_ENST00000550553.1_Missense_Mutation_p.L66V	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	66								p.L66V(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGAGGTTTCAGAGGTTCTTGA	0.373000													22	53					0	0	0.014323	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227261667	227261667	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:227261667G>C	ENST00000366769.3	-	19	3924	c.2633C>G	c.(2632-2634)gCt>gGt	p.A878G	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.A878G|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.A878G|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.A878G|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.A878G|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.A878G|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.A797G	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	878					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.A878G(2)|p.A797G(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTCCAGTCTAGCTGACATATC	0.368000													52	154					0	0	0.014410	0	0
KPNA3	3839	broad.mit.edu	37	13	50299570	50299570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:50299570G>A	ENST00000261667.3	-	7	865	c.451C>T	c.(451-453)Caa>Taa	p.Q151*		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	151	NLS binding site (major) (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	p.Q151*(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ACAACAGCTTGAGTCTGTGCA	0.338000													14	44					0	0	0.004007	0	0
OPA1	4976	broad.mit.edu	37	3	193364936	193364936	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:193364936G>C	ENST00000361510.2	+	19	2071	c.1837G>C	c.(1837-1839)Gag>Cag	p.E613Q	OPA1_ENST00000392438.3_Missense_Mutation_p.E558Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E577Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E595Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E576Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E559Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	558					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	p.E613Q(2)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AATGGTACGAGAGTCTGTTGA	0.358000													4	63					0	0	0.000602	0	0
LAMA1	284217	broad.mit.edu	37	18	7023260	7023260	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:7023260C>T	ENST00000389658.3	-	19	2697	c.2604G>A	c.(2602-2604)ggG>ggA	p.G868G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	868	Laminin EGF-like 8.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G868G(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGGCACTCCCCGGTGACTG	0.602000													13	47					0	0	0.013537	0	0
NCAPD3	23310	broad.mit.edu	37	11	134064592	134064592	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:134064592C>T	ENST00000534548.2	-	14	1721	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	553					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.E553K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTGGTCTTCTCATCCCTGATC	0.418000													14	79					0	0	0.002450	0	0
PADI2	11240	broad.mit.edu	37	1	17395563	17395563	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:17395563G>A	ENST00000375486.4	-	16	2037	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Silent_p.F542F	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	658					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.F658F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GCCACCACTTGAAGGTGAAGG	0.592000													33	117					0	0	0.003755	0	0
GHDC	84514	broad.mit.edu	37	17	40345373	40345373	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:40345373C>T	ENST00000301671.8	-	2	668	c.227G>A	c.(226-228)gGa>gAa	p.G76E	GHDC_ENST00000593209.1_Missense_Mutation_p.G76E|GHDC_ENST00000436923.2_Missense_Mutation_p.G76E|GHDC_ENST00000414034.3_Missense_Mutation_p.G76E|GHDC_ENST00000587427.1_Missense_Mutation_p.G76E|GHDC_ENST00000428494.2_Missense_Mutation_p.G76E|GHDC_ENST00000590520.1_5'UTR			Q8N2G8	GHDC_HUMAN	GH3 domain containing	76						endoplasmic reticulum|nuclear envelope		p.G76E(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCGCTGGGCTCCCTGTAGACA	0.647000													4	12					0	0	0.001168	0	0
FADD	8772	broad.mit.edu	37	11	70049613	70049613	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:70049613G>A	ENST00000301838.4	+	1	345	c.48G>A	c.(46-48)tcG>tcA	p.S16S		NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	16	DED.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding	p.S16S(1)		endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCAGCCTGTCGAGCAGCGAGC	0.697000													4	14					0	0	0.009096	0	0
AOC4P	90586	broad.mit.edu	37	17	41020777	41020777	+	RNA	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:41020777C>T	ENST00000585538.1	+	0	1616					NR_002773.1																						CCGGCTACATCAGCTCAGCAT	0.527000													5	25					0	0	0.003080	0	0
EIF3A	8661	broad.mit.edu	37	10	120809348	120809348	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:120809348C>G	ENST00000369144.3	-	17	2750	c.2623G>C	c.(2623-2625)Gag>Cag	p.E875Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.E841Q	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	875	Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	p.E875Q(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGTCTTCTCTCTTCCTCTCTA	0.393000													81	227					0	0	0.014410	0	0
KCNQ5	56479	broad.mit.edu	37	6	73900420	73900420	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:73900420C>G	ENST00000342056.2	+	13	2157	c.1759C>G	c.(1759-1761)Caa>Gaa	p.Q587E	KCNQ5_ENST00000355194.4_Missense_Mutation_p.Q568E|KCNQ5_ENST00000414165.2_Missense_Mutation_p.Q458E|KCNQ5_ENST00000403813.2_Missense_Mutation_p.Q559E|KCNQ5_ENST00000355635.3_Missense_Mutation_p.Q569E|KCNQ5_ENST00000370398.1_Missense_Mutation_p.Q568E|KCNQ5_ENST00000402622.2_Missense_Mutation_p.Q578E	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	568					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.Q568E(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TAAAAGCCTTCAAACACGGTA	0.373000													23	82					0	0	0.006320	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553716	140553716	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140553716G>A	ENST00000231137.3	+	1	1474	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		434	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E434K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAAAACCGAGCACAACAT	0.537000													40	105					0	0	0.005524	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123127407	123127407	+	Missense_Mutation	SNP	C	C	G	rs143627205		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:123127407C>G	ENST00000368440.4	+	7	1126	c.949C>G	c.(949-951)Cct>Gct	p.P317A	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.P186A	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	317					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	p.P317A(1)		breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		GTTTGTGGCTCCTGCTGTTAC	0.313000													12	42					0	0	0.004990	0	0
FADD	8772	broad.mit.edu	37	11	70049620	70049620	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:70049620G>A	ENST00000301838.4	+	1	352	c.55G>A	c.(55-57)Gag>Aag	p.E19K		NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	19	DED.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding	p.E19K(1)		endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTCGAGCAGCGAGCTGACCGA	0.692000													5	15					0	0	0.000602	0	0
AP1B1	162	broad.mit.edu	37	22	29752417	29752417	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:29752417C>T	ENST00000357586.2	-	6	900	c.714G>A	c.(712-714)caG>caA	p.Q238Q	AP1B1_ENST00000356015.2_Silent_p.Q238Q|AP1B1_ENST00000317368.7_Silent_p.Q238Q|AP1B1_ENST00000432560.2_Silent_p.Q238Q|AP1B1_ENST00000405198.1_Silent_p.Q238Q|AP1B1_ENST00000415447.1_Silent_p.Q238Q|AP1B1_ENST00000402502.1_Silent_p.Q238Q	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	238					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	p.Q238Q(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCGCTCACCTCTGGGCCTCGC	0.637000													11	23					0	0	0.010729	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418785	48418785	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:48418785G>A	ENST00000376771.4	+	6	1830	c.1489G>A	c.(1489-1491)Ggt>Agt	p.G497S	TBC1D25_ENST00000537536.1_Missense_Mutation_p.G243S	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	497	Poly-Gly.					intracellular	Rab GTPase activator activity	p.G497S(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GGGGCCTGGTGGTGGGGGGCG	0.642000													16	61					0	0	0.008871	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41626166	41626166	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:41626166G>C	ENST00000216237.5	+	17	2187	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q	CHADL_ENST00000216241.9_Intron	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	677					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	p.E677Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGTGAAGGAAGAGCATCTAGA	0.602000													20	74					0	0	0.008871	0	0
ATF7	11016	broad.mit.edu	37	12	53911120	53911120	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:53911120G>C	ENST00000420353.2	-	12	1402	c.1253C>G	c.(1252-1254)tCa>tGa	p.S418*	ATF7_ENST00000548446.2_Nonsense_Mutation_p.S429*|RP11-793H13.10_ENST00000591834.1_Intron|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000415113.1_Nonsense_Mutation_p.S397*|ATF7_ENST00000328463.7_Nonsense_Mutation_p.S429*|RP11-793H13.3_ENST00000548347.1_RNA|ATF7_ENST00000456903.4_Nonsense_Mutation_p.S418*	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	429	Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S429*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						CGTTGGCTCTGAGCTTTCCTT	0.547000													8	20					0	0	0.003080	0	0
INF2	64423	broad.mit.edu	37	14	105177451	105177451	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:105177451C>T	ENST00000392634.4	+	15	2458	c.2346C>T	c.(2344-2346)atC>atT	p.I782I	INF2_ENST00000330634.7_Silent_p.I782I	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	782	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	p.I782I(2)|p.I50I(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GCTTCAAGATCAGCACATTGC	0.667000													3	7					0	0	0.009096	0	0
PRTN3	5657	broad.mit.edu	37	19	847830	847830	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:847830G>A	ENST00000544537.2	+	4	691	c.509G>A	c.(508-510)gGc>gAc	p.G170D	PRTN3_ENST00000234347.5_Missense_Mutation_p.G211D			P24158	PRTN3_HUMAN	proteinase 3	211	Peptidase S1.				collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity	p.G211D(1)		lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTGTGATGGCATCATCCAA	0.612000													3	30					0	0	0.009096	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41770632	41770632	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:41770632C>T	ENST00000392006.3	+	1	397	c.224C>T	c.(223-225)aCc>aTc	p.T75I	HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.T75I|HNRNPUL1_ENST00000595018.1_Intron|HNRNPUL1_ENST00000352456.3_Intron	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	75	Necessary for interaction with HRMT1L1.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	p.T75I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGGAGGGGACCGCGCAGCCA	0.766000													4	3					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179598113	179598113	+	Missense_Mutation	SNP	C	C	T	rs72648934		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:179598113C>T	ENST00000589042.1	-	54	16131	c.15907G>A	c.(15907-15909)Gcc>Acc	p.A5303T	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A4986T|TTN_ENST00000342992.6_Missense_Mutation_p.A4059T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4986	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A4059T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTACTGGCGACCAAGGGT	0.473000													41	127					0	0	0.005524	0	0
WASL	8976	broad.mit.edu	37	7	123332847	123332847	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:123332847G>C	ENST00000223023.4	-	9	1233	c.901C>G	c.(901-903)Cct>Gct	p.P301A		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	301	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	p.P301A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gcaggaggaggaggaggacct	0.602000													32	89					0	0	0.010818	0	0
FAM171B	165215	broad.mit.edu	37	2	187626715	187626715	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:187626715C>T	ENST00000304698.5	+	8	1849	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	549						integral to membrane	DNA binding	p.S549F(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GACCTTTTCTCCACACCGGAA	0.438000													14	55					0	0	0.004007	0	0
WDR72	256764	broad.mit.edu	37	15	53908309	53908309	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:53908309G>C	ENST00000396328.1	-	15	2333	c.2094C>G	c.(2092-2094)ctC>ctG	p.L698L	WDR72_ENST00000557913.1_Silent_p.L695L|WDR72_ENST00000360509.5_Silent_p.L698L|WDR72_ENST00000559418.1_Silent_p.L708L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	698								p.L698L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAACATCACTGAGTGGAGTTG	0.408000													9	83					0	0	0.004482	0	0
DLG1	1739	broad.mit.edu	37	3	196778504	196778504	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:196778504C>T	ENST00000346964.2	-	25	2807	c.2618G>A	c.(2617-2619)aGa>aAa	p.R873K	DLG1_ENST00000419354.1_Missense_Mutation_p.R851K|DLG1_ENST00000392382.2_Missense_Mutation_p.R818K|DLG1_ENST00000448528.2_Missense_Mutation_p.R851K|DLG1_ENST00000357674.4_Missense_Mutation_p.R840K|DLG1_ENST00000443183.1_Missense_Mutation_p.R747K|DLG1_ENST00000452595.1_Missense_Mutation_p.R735K|DLG1_ENST00000314062.3_Missense_Mutation_p.R800K|DLG1_ENST00000450955.1_Missense_Mutation_p.R840K|DLG1_ENST00000422288.1_Missense_Mutation_p.R800K	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	851	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	p.R873K(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		AAATGTTTTTCTGGCTTGTTC	0.328000													13	137					0	0	0.002450	0	0
SHROOM1	134549	broad.mit.edu	37	5	132160910	132160910	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:132160910G>A	ENST00000378679.3	-	4	1727	c.923C>T	c.(922-924)tCa>tTa	p.S308L	SHROOM1_ENST00000319854.3_Missense_Mutation_p.S308L|SHROOM1_ENST00000378676.1_Missense_Mutation_p.S308L	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	308					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	p.S308L(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACTTCGCCTGAAGCGCTCCG	0.617000													11	34					0	0	0.001855	0	0
HDAC4	9759	broad.mit.edu	37	2	240061422	240061422	+	Silent	SNP	C	C	T	rs138989369	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:240061422C>T	ENST00000345617.3	-	9	1727	c.936G>A	c.(934-936)gcG>gcA	p.A312A	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000541256.1_Silent_p.A281A	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	312	Interaction with MEF2A.				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.A312A(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)		TACCGTTCTCCGCGCTGACGC	0.662000													40	121					0	0	0.010771	0	0
MARCH6	10299	broad.mit.edu	37	5	10403539	10403539	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:10403539G>C	ENST00000274140.5	+	15	1350	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	MARCH6_ENST00000449913.2_Silent_p.L358L|MARCH6_ENST00000510792.1_Silent_p.L104L|MARCH6_ENST00000503788.1_Silent_p.L301L	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	406					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.L406L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ATGCTACTCTGAAAGATCGAG	0.418000													28	79					0	0	0.007291	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202411574	202411574	+	Splice_Site	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:202411574G>A	ENST00000608999.1	+	12	1694		c.e12-1		PPP1R12B_ENST00000336894.4_Splice_Site	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGCTTCTACAGAGAATCAGCT	0.443000													13	43					0	0	0.013537	0	0
BIN3	55909	broad.mit.edu	37	8	22487503	22487503	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:22487503C>T	ENST00000276416.6	-	6	380	c.312G>A	c.(310-312)caG>caA	p.Q104Q	BIN3_ENST00000399977.4_Silent_p.Q56Q|BIN3_ENST00000519513.1_Silent_p.Q50Q|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000520292.1_Silent_p.Q104Q	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	104	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity	p.Q104Q(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TCACAGTCTTCTGGATCTGGT	0.537000													4	19					0	0	0.000602	0	0
FBXW9	84261	broad.mit.edu	37	19	12805444	12805444	+	Translation_Start_Site	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:12805444G>C	ENST00000544494.1	-	0	539				FBXW9_ENST00000380339.3_Missense_Mutation_p.I214M|FBXW9_ENST00000587955.1_Missense_Mutation_p.I204M|FBXW9_ENST00000393261.3_Missense_Mutation_p.I214M			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9								protein binding	p.I214M(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CTAAGGTCTTGATCAGAACCT	0.572000													5	52					0	0	0.001984	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136401759	136401759	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:136401759C>G	ENST00000393061.3	+	2	684	c.252C>G	c.(250-252)ctC>ctG	p.L84L	ADAMTSL2_ENST00000354484.4_5'UTR|ADAMTSL2_ENST00000393060.1_5'UTR			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	490	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CCCGAGGGCTCTTCCCAAAGC	0.602000													12	35					0	0	0.001855	0	0
CCBL2	56267	broad.mit.edu	37	1	89426873	89426873	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:89426873G>C	ENST00000260508.4	-	8	1101	c.764C>G	c.(763-765)tCt>tGt	p.S255C	CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.S221C	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	255					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding	p.S255C(1)|p.S221C(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTTATTTCCAGAATATACAAG	0.383000													28	110					0	0	0.008361	0	0
ZNF655	79027	broad.mit.edu	37	7	99170442	99170442	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:99170442G>A	ENST00000424881.1	+	4	1036	c.816G>A	c.(814-816)gaG>gaA	p.E272E	ZNF655_ENST00000493277.1_Silent_p.E272E|ZNF655_ENST00000252713.4_Silent_p.E237E|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Silent_p.E237E	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	237					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.E237E(1)|p.E272E(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATACTAGAGAGAAGCCCTACA	0.378000													9	52					0	0	0.004482	0	0
DLG3	1741	broad.mit.edu	37	X	69719849	69719849	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:69719849G>A	ENST00000194900.4	+	18	2532	c.2191G>A	c.(2191-2193)Gat>Aat	p.D731N	DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000374360.3_Missense_Mutation_p.D699N|DLG3_ENST00000374355.3_Missense_Mutation_p.D394N|DLG3_ENST00000542398.1_Missense_Mutation_p.D248N			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	699	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	p.D699N(1)|p.D394N(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CCAATTTAATGATAACCTCTA	0.493000													9	38					0	0	0.004482	0	0
ZNF70	7621	broad.mit.edu	37	22	24086954	24086954	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:24086954G>C	ENST00000341976.3	-	2	834	c.374C>G	c.(373-375)tCa>tGa	p.S125*		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	125						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S125*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GTTAGGTCCTGAGTCCCCTCT	0.562000													44	159					0	0	0.014410	0	0
TTLL5	23093	broad.mit.edu	37	14	76249833	76249833	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:76249833C>T	ENST00000298832.9	+	26	3151	c.2946C>T	c.(2944-2946)atC>atT	p.I982I	TTLL5_ENST00000557636.1_Silent_p.I996I|TTLL5_ENST00000554510.1_Silent_p.I491I|TTLL5_ENST00000556893.1_Silent_p.I533I	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	982					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.I982I(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTGCACACATCTATAGCCAGA	0.532000													20	109					0	0	0.012319	0	0
RNF213	57674	broad.mit.edu	37	17	78353431	78353431	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:78353431G>A	ENST00000582970.1	+	55	13700	c.13557G>A	c.(13555-13557)ccG>ccA	p.P4519P	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.P2592P|RNF213_ENST00000508628.2_Silent_p.P4568P	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.P2592P(1)|p.P4568P(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGGCAGGCCGATGGAACAGA	0.502000													26	93					0	0	0.006230	0	0
SNX25	83891	broad.mit.edu	37	4	186188198	186188198	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:186188198G>A	ENST00000504273.1	+	5	782	c.488G>A	c.(487-489)aGa>aAa	p.R163K	SNX25_ENST00000264694.8_Missense_Mutation_p.R163K			Q9H3E2	SNX25_HUMAN	sorting nexin 25	163	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	p.R163K(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CTGGCGTACAGAGAGCAAATG	0.458000													53	146					0	0	0.014410	0	0
TRAF2	7186	broad.mit.edu	37	9	139802612	139802612	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:139802612G>C	ENST00000359662.3	+	5	658	c.613G>C	c.(613-615)Gag>Cag	p.E205Q	TRAF2_ENST00000536468.1_Missense_Mutation_p.E153Q|TRAF2_ENST00000247668.2_Missense_Mutation_p.E153Q|TRAF2_ENST00000482854.1_3'UTR			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	153				Missing (in Ref. 2; BAB70792).	activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	p.E153Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GCGCCACCTGGAGCACGAGTG	0.662000													13	35					0	0	0.013537	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40622219	40622219	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:40622219C>A	ENST00000343619.4	+	5	529	c.406C>A	c.(406-408)Cag>Aag	p.Q136K	ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.Q136K|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000585525.1_Intron|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.Q136K|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.Q136K	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	136					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.Q136K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCGCAAAACTCAGCAATTTTT	0.338000													8	37					5.18039e-06	5.28738e-06	0.003080	1	0
LST3	0	broad.mit.edu	37	12	21200106	21200106	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:21200106G>C	ENST00000381541.3	+	8	1155	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E364Q|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E317Q														p.E317Q(1)									TAAAATGGTGGAGCAACAGTA	0.338000													9	25					0	0	0.006214	0	0
MALAT1	378938	broad.mit.edu	37	11	65269914	65269914	+	RNA	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65269914G>C	ENST00000534336.1	+	0	4682					NR_002819.2																						TTTAGTGTAGGAGAAATACTT	0.279000													7	27					0	0	0.001984	0	0
TGFBR3	7049	broad.mit.edu	37	1	92193314	92193314	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:92193314G>C	ENST00000212355.4	-	7	1252	c.787C>G	c.(787-789)Ctt>Gtt	p.L263V	TGFBR3_ENST00000370399.2_Missense_Mutation_p.L263V|TGFBR3_ENST00000525962.1_Missense_Mutation_p.L263V	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	263					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.L263V(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ACCACTTCAAGATCCTCTTGA	0.383000													18	74					0	0	0.007413	0	0
SPG7	6687	broad.mit.edu	37	16	89598329	89598329	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:89598329C>G	ENST00000268704.2	+	8	1020	c.1005C>G	c.(1003-1005)ctC>ctG	p.L335L	SPG7_ENST00000341316.2_Silent_p.L335L	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	335					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.L335L(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AACGCTTCCTCCAGCTTGGCG	0.602000													6	59					0	0	0.001984	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757051	56757051	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:56757051C>T	ENST00000326855.2	+	1	705	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I221I(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ACATCTACATCATGGCCACCA	0.438000													53	196					0	0	0.014410	0	0
PIWIL1	9271	broad.mit.edu	37	12	130830392	130830392	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:130830392G>A	ENST00000245255.3	+	4	557	c.285G>A	c.(283-285)caG>caA	p.Q95Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	95					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.Q95Q(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATACAAGGCAGAACCTAGACC	0.393000													19	84					0	0	0.007413	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90576217	90576217	+	RNA	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:90576217G>C	ENST00000551025.1	+	0	4645							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	p.E1070Q(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAGAATTATTGAGTCAGCAAT	0.274000													2	5					0	0	0.004672	0	0
DMBT1	1755	broad.mit.edu	37	10	124358515	124358515	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:124358515G>T	ENST00000338354.3	+	26	3288	c.3182G>T	c.(3181-3183)cGc>cTc	p.R1061L	DMBT1_ENST00000344338.3_Missense_Mutation_p.R1051L|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1061L|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1051L|DMBT1_ENST00000330163.4_Missense_Mutation_p.R562L|DMBT1_ENST00000368956.2_Missense_Mutation_p.R562L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1061	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.R1061L(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATGATGTGCGCTGCTCAGGA	0.592000													51	151					1.51926e-22	1.58509e-22	0.014410	1	0
SRSF1	6426	broad.mit.edu	37	17	56083263	56083263	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:56083263C>G	ENST00000582730.2	-	3	574	c.451G>C	c.(451-453)Gat>Cat	p.D151H	SRSF1_ENST00000258962.4_Missense_Mutation_p.D151H|SRSF1_ENST00000584773.1_Missense_Mutation_p.D151H|SRSF1_ENST00000585096.1_Intron	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	151	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	p.D151H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGGTAAACATCAGCATAACAT	0.403000													17	87					0	0	0.006122	0	0
DHX58	79132	broad.mit.edu	37	17	40260106	40260106	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:40260106C>T	ENST00000251642.3	-	7	921	c.699G>A	c.(697-699)ctG>ctA	p.L233L		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	233					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	p.L233L(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGAGCTTCTTCAGCAAGTCCC	0.562000													17	70					0	0	0.007413	0	0
KCNN2	3781	broad.mit.edu	37	5	113831654	113831654	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:113831654G>C	ENST00000512097.3	+	9	2533	c.1515G>C	c.(1513-1515)aaG>aaC	p.K505N	KCNN2_ENST00000503706.1_Missense_Mutation_p.K157N|KCNN2_ENST00000264773.3_Missense_Mutation_p.K505N|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	505						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.K505N(1)|p.K157N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ACTTCGAGAAGAGGATTGTTA	0.428000													38	160					0	0	0.004878	0	0
GLIS2	84662	broad.mit.edu	37	16	4382347	4382347	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:4382347G>C	ENST00000262366.3	+	3	887	c.66G>C	c.(64-66)gaG>gaC	p.E22D	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.E22D			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	22					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	p.E22D(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CGGCAAGAGAGAAGCGGGAGA	0.682000													10	40					0	0	0.001855	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909923	909923	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:909923G>C	ENST00000379409.2	+	15	1990	c.1960G>C	c.(1960-1962)Gag>Cag	p.E654Q	PLEKHN1_ENST00000379407.3_Missense_Mutation_p.E567Q|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.E602Q			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	654								p.E602Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGGAGGGCCTGAGGCCAGTGG	0.662000													9	20					0	0	0.004482	0	0
GPATCH11	253635	broad.mit.edu	37	2	37319356	37319356	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:37319356C>G	ENST00000409774.1	+	6	631	c.564C>G	c.(562-564)ctC>ctG	p.L188L	GPATCH11_ENST00000281932.5_Silent_p.L59L|GPATCH11_ENST00000608836.1_Silent_p.L162L					G patch domain containing 11									p.L59L(1)|p.L162L(1)									AAGGAGATCTCAGAAGAAGCC	0.378000													3	11					0	0	0.004672	0	0
MRPL22	29093	broad.mit.edu	37	5	154330479	154330479	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:154330479G>C	ENST00000523037.1	+	3	217	c.176G>C	c.(175-177)gGa>gCa	p.G59A	MRPL22_ENST00000522038.1_Missense_Mutation_p.G65A|MRPL22_ENST00000439747.3_Missense_Mutation_p.G85A|MRPL22_ENST00000265229.8_Intron	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	59					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	p.G59A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAACTGCCTGGAGAACCTCGG	0.373000													26	73					0	0	0.006320	0	0
ZNF200	7752	broad.mit.edu	37	16	3273997	3273997	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3273997C>T	ENST00000431561.3	-	5	1695	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396868.3_Silent_p.E360E|ZNF200_ENST00000575948.1_Silent_p.E360E|ZNF200_ENST00000414144.2_Silent_p.E361E|ZNF200_ENST00000396871.4_Silent_p.E360E|ZNF200_ENST00000396870.4_Silent_p.E360E	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E361D(1)|p.E361E(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CATATGGTCTCTCAGCCTCAT	0.453000													87	394					0	0	0.014410	0	0
EIF5B	9669	broad.mit.edu	37	2	100011209	100011209	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:100011209G>C	ENST00000289371.6	+	21	3319	c.3117G>C	c.(3115-3117)gtG>gtC	p.V1039V		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.V1039V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTTCGATGTGAGAATTGAAC	0.318000													26	121					0	0	0.007291	0	0
PADI2	11240	broad.mit.edu	37	1	17395644	17395644	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:17395644G>A	ENST00000375486.4	-	16	1956	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Silent_p.F515F	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	631					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.F631F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TGTCGTCGATGAAGGTGCATT	0.597000													38	142					0	0	0.006230	0	0
RFC4	5984	broad.mit.edu	37	3	186510677	186510677	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:186510677G>A	ENST00000392481.2	-	6	751	c.470C>T	c.(469-471)tCa>tTa	p.S157L	RFC4_ENST00000296273.2_Missense_Mutation_p.S157L|RFC4_ENST00000433496.1_Missense_Mutation_p.S157L	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	157					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.S157L(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTGAGCAGCTGAGGTCATAGA	0.428000													13	87					0	0	0.013537	0	0
SLX4	84464	broad.mit.edu	37	16	3656547	3656547	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3656547C>T	ENST00000294008.3	-	3	1328	c.688G>A	c.(688-690)Gag>Aag	p.E230K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	230	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.E230K(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGGGAGCACTCTTCTGAAGCG	0.542000								Direct reversal of damage					81	268					0	0	0.014410	0	0
KALRN	8997	broad.mit.edu	37	3	123987680	123987680	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:123987680G>C	ENST00000360013.3	+	5	668	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	KALRN_ENST00000460856.1_Missense_Mutation_p.E181Q|KALRN_ENST00000240874.3_Missense_Mutation_p.E181Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	181					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.E181Q(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTACAACCATGAGGAGTGGAT	0.612000													63	88					0	0	0.014410	0	0
FAM188B	84182	broad.mit.edu	37	7	30876370	30876370	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:30876370C>T	ENST00000265299.6	+	7	1306	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	410								p.S410L(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATTGACCTCTCAGTAGCAAAG	0.463000													29	128					0	0	0.007291	0	0
MALAT1	378938	broad.mit.edu	37	11	65269178	65269178	+	RNA	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65269178G>A	ENST00000534336.1	+	0	3946					NR_002819.2																						ATTCCCAGTTGAAGCTGAAAA	0.448000													8	56					0	0	0.003080	0	0
MAP1B	4131	broad.mit.edu	37	5	71491837	71491837	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:71491837C>T	ENST00000296755.7	+	5	2953	c.2655C>T	c.(2653-2655)acC>acT	p.T885T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	885						microtubule|microtubule associated complex	structural molecule activity	p.T885T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAGAAGTCACCAAAGGTCCTG	0.547000													50	181					0	0	0.014410	0	0
KMT2D	8085	broad.mit.edu	37	12	49434415	49434415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:49434415G>A	ENST00000301067.7	-	31	7137	c.7138C>T	c.(7138-7140)Cag>Tag	p.Q2380*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.Q2110*(1)|p.Q2380*(1)									AATGGGGGCTGAGCATATGGG	0.652000													19	41					0	0	0.012319	0	0
CAMK4	814	broad.mit.edu	37	5	110818485	110818485	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:110818485C>T	ENST00000282356.4	+	10	1229	c.831C>T	c.(829-831)gtC>gtT	p.V277V	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.V277V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	277	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.V277V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TATTTCAGGTCAGAAAATTAA	0.418000													15	95					0	0	0.003163	0	0
MALAT1	378938	broad.mit.edu	37	11	65268881	65268881	+	RNA	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65268881G>A	ENST00000534336.1	+	0	3649					NR_002819.2																						GAGGTCTGTGGAAGAGATGTC	0.393000													6	25					0	0	0.006214	0	0
COL4A3	1285	broad.mit.edu	37	2	228163449	228163449	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:228163449G>C	ENST00000396578.3	+	43	3965	c.3803G>C	c.(3802-3804)gGa>gCa	p.G1268A	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|COL4A3_ENST00000468753.1_3'UTR	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1268	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G1268A(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCATAAAAGGAGACAAAGGG	0.522000													21	73					0	0	0.014323	0	0
CNGB1	1258	broad.mit.edu	37	16	57918280	57918280	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:57918280C>T	ENST00000564448.1	-	33	3586	c.3526G>A	c.(3526-3528)Gac>Aac	p.D1176N	CNGB1_ENST00000251102.8_Missense_Mutation_p.D1182N			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1182					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.D1182N(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCGGGTGGGTCGGTGGCGGCC	0.721000													9	31					0	0	0.006214	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605331	140605331	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140605331G>A	ENST00000239449.4	+	1	2254	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	PCDHB14_ENST00000515856.2_Missense_Mutation_p.E599K	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		752					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.E752K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAATACGAGGTGTGTCT	0.572000													42	154					0	0	0.014410	0	0
MALAT1	378938	broad.mit.edu	37	11	65268884	65268884	+	RNA	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65268884G>A	ENST00000534336.1	+	0	3652					NR_002819.2																						GTCTGTGGAAGAGATGTCCAT	0.383000													6	24					0	0	0.006214	0	0
IRS1	3667	broad.mit.edu	37	2	227662879	227662879	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:227662879G>A	ENST00000305123.5	-	1	1596	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.I192I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TCACGAAGCTGATGGTCTTGC	0.552000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	72					0	0	0.008871	0	0
ALDH3B1	221	broad.mit.edu	37	11	67787235	67787235	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67787235G>C	ENST00000539229.1	+	7	645	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	ALDH3B1_ENST00000342456.6_Missense_Mutation_p.E141Q|ALDH3B1_ENST00000316367.6_Missense_Mutation_p.E177Q|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.E177Q	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	178					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	GCAGCTGCTAGAGCACAGGTT	0.652000													25	100					0	0	0.010818	0	0
HID1	283987	broad.mit.edu	37	17	72948414	72948414	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:72948414C>T	ENST00000425042.2	-	17	2171	c.2094G>A	c.(2092-2094)atG>atA	p.M698I		NM_030630.2	NP_085133.1			HID1 domain containing									p.M698I(1)									GCAGCAGCCTCATGATGGTCT	0.677000													10	21					0	0	0.004990	0	0
USP33	23032	broad.mit.edu	37	1	78163603	78163603	+	Silent	SNP	A	A	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:78163603A>G	ENST00000370793.1	-	24	2962	c.2616T>C	c.(2614-2616)ccT>ccC	p.P872P	USP33_ENST00000370794.3_Silent_p.P841P|USP33_ENST00000357428.1_Silent_p.P872P	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	872	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.P872P(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TATTGTCAATAGGACCTGGAG	0.313000													51	142					0	0	0.014410	0	0
NUDT12	83594	broad.mit.edu	37	5	102891757	102891757	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:102891757C>T	ENST00000230792.2	-	4	935	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Missense_Mutation_p.R262Q	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	280						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	p.R280Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AAACTTGTATCGACTGTGCCA	0.353000													19	92					0	0	0.012319	0	0
CASC5	57082	broad.mit.edu	37	15	40920870	40920870	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:40920870G>C	ENST00000346991.5	+	13	6045	c.5655G>C	c.(5653-5655)ttG>ttC	p.L1885F	CASC5_ENST00000399668.2_Missense_Mutation_p.L1859F			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1885	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.L1885F(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAGAGAGCTTGAGGGAGGTAT	0.308000													12	91					0	0	0.013537	0	0
SPG21	51324	broad.mit.edu	37	15	65255979	65255979	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:65255979G>A	ENST00000559199.1	-	7	1447	c.447C>T	c.(445-447)atC>atT	p.I149I	SPG21_ENST00000433215.2_Silent_p.I303I|SPG21_ENST00000416889.2_Silent_p.I276I|SPG21_ENST00000204566.2_Silent_p.I303I			Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	303					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding	p.I303I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CCTCCTGGCTGATGCCAAGGC	0.527000													48	124					0	0	0.014410	0	0
HMCES	56941	broad.mit.edu	37	3	129023626	129023626	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:129023626G>A	ENST00000383463.4	+	7	1112	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E	HMCES_ENST00000389735.3_Silent_p.E341E|HMCES_ENST00000417226.2_Silent_p.E299E|HMCES_ENST00000502878.2_Silent_p.E341E	NM_020187.2	NP_064572.2			5-hydroxymethylcytosine (hmC) binding, ES cell-specific	341								p.E341E(1)									TGAAGCGGGAGAAGGAGGAGG	0.557000													7	81					0	0	0.001984	0	0
AK7	122481	broad.mit.edu	37	14	96912857	96912857	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:96912857G>C	ENST00000267584.4	+	8	827	c.783G>C	c.(781-783)gtG>gtC	p.V261V		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	261					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.V261V(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TCTGCAGAGTGATACAAAACG	0.473000													25	59					0	0	0.007291	0	0
YTHDF2	51441	broad.mit.edu	37	1	29070328	29070328	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:29070328G>C	ENST00000373812.3	+	4	1908	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	YTHDF2_ENST00000541996.1_Missense_Mutation_p.E466Q|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Missense_Mutation_p.E516Q	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	516	YTH.				humoral immune response			p.E516Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CATTCGCCTAGAGAACAACGA	0.478000													30	58					0	0	0.007291	0	0
MECOM	2122	broad.mit.edu	37	3	168807914	168807914	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:168807914T>A	ENST00000464456.1	-	13	3884	c.2684A>T	c.(2683-2685)gAa>gTa	p.E895V	MECOM_ENST00000392736.3_Missense_Mutation_p.E904V|MECOM_ENST00000433243.2_Missense_Mutation_p.E905V|MECOM_ENST00000264674.3_Missense_Mutation_p.E969V|MECOM_ENST00000472280.1_Missense_Mutation_p.E905V|MECOM_ENST00000468789.1_Missense_Mutation_p.E904V|MECOM_ENST00000494292.1_Missense_Mutation_p.E1083V|MECOM_ENST00000460814.1_Missense_Mutation_p.E895V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.E904V(1)|p.E904I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCATTGTCTTCATCCTCCTC	0.398000													160	226					0	0	0.014410	0	0
RBM15	64783	broad.mit.edu	37	1	110882500	110882500	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:110882500C>T	ENST00000369784.3	+	1	1373	c.473C>T	c.(472-474)tCc>tTc	p.S158F	RBM15_ENST00000487146.2_Missense_Mutation_p.S158F|RBM15_ENST00000602849.1_Missense_Mutation_p.S158F	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	158	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	p.S158F(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGGCCGCCTCCTCAGCTCCC	0.642000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	53					0	0	0.008291	0	0
RERE	473	broad.mit.edu	37	1	8418325	8418325	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:8418325G>C	ENST00000337907.3	-	21	4904	c.4270C>G	c.(4270-4272)Ccg>Gcg	p.P1424A	RERE_ENST00000377464.1_Missense_Mutation_p.P1156A|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.P870A|RERE_ENST00000400908.2_Missense_Mutation_p.P1424A	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1424					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1424A(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		tgatggtgCGGAGTCACGTTG	0.637000													10	34					0	0	0.006214	0	0
MDGA1	266727	broad.mit.edu	37	6	37620068	37620068	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:37620068C>T	ENST00000297153.7	-	7	2209	c.1031G>A	c.(1030-1032)aGt>aAt	p.S344N	MDGA1_ENST00000434837.3_Missense_Mutation_p.S344N|MDGA1_ENST00000505425.1_Missense_Mutation_p.S344N			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	344	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.S344N(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GATGTTCTCACTCTCTTTGAT	0.567000													15	37					0	0	0.004007	0	0
CRYBB1	1414	broad.mit.edu	37	22	27003913	27003913	+	Missense_Mutation	SNP	C	C	A	rs141811471		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:27003913C>A	ENST00000215939.2	-	4	502	c.372G>T	c.(370-372)tgG>tgT	p.W124C		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	124	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens	p.W124C(1)|p.W124Y(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						ACCATGTGTTCCAGCGAGGGT	0.592000													21	53					2.4624e-09	2.52975e-09	0.008871	1	0
VWA9	81556	broad.mit.edu	37	15	65871820	65871820	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:65871820C>G	ENST00000395644.4	-	12	1818	c.1483G>C	c.(1483-1485)Gag>Cag	p.E495Q	VWA9_ENST00000569491.1_Missense_Mutation_p.E445Q|VWA9_ENST00000313182.2_Missense_Mutation_p.E495Q|VWA9_ENST00000442903.3_Missense_Mutation_p.E459Q|VWA9_ENST00000567744.1_Missense_Mutation_p.E531Q|VWA9_ENST00000420799.2_Missense_Mutation_p.E438Q|VWA9_ENST00000431261.2_Missense_Mutation_p.E416Q					von Willebrand factor A domain containing 9									p.E495Q(1)									GCGGCATACTCAGAGGTGCCG	0.532000													38	127					0	0	0.004878	0	0
CHD4	1108	broad.mit.edu	37	12	6690250	6690250	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:6690250C>G	ENST00000309577.6	-	32	5116	c.4953G>C	c.(4951-4953)gtG>gtC	p.V1651V	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000357008.2_Silent_p.V1623V|CHD4_ENST00000544040.1_Silent_p.V1616V|CHD4_ENST00000544484.1_Silent_p.V1648V			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1623	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.V1623V(1)|p.V1651V(1)		central_nervous_system(2)	2						TTCTCTCCTTCACCTCTGCCT	0.483000													103	357					0	0	0.014410	0	0
SALL4	57167	broad.mit.edu	37	20	50408216	50408216	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:50408216G>C	ENST00000217086.4	-	2	917	c.806C>G	c.(805-807)tCt>tGt	p.S269C	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.S269C	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	269					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S269C(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACAGCTGCAGAAACCTGCTG	0.592000													5	30					0	0	0.004007	0	0
NAA16	79612	broad.mit.edu	37	13	41943355	41943355	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41943355G>C	ENST00000379406.3	+	15	2207	c.1883G>C	c.(1882-1884)aGa>aCa	p.R628T	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	628					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.R628T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						aagaaaaaaagagatgaagaa	0.353000													13	69					0	0	0.013537	0	0
TRO	7216	broad.mit.edu	37	X	54956580	54956580	+	Silent	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:54956580T>C	ENST00000173898.7	+	12	3535	c.3423T>C	c.(3421-3423)ggT>ggC	p.G1141G	TRO_ENST00000375041.2_Silent_p.G744G|TRO_ENST00000420798.2_Silent_p.G672G|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1141	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.G1141G(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCTTTGGTGGTGCTCATGGCA	0.567000													17	68					0	0	0.008871	0	0
GBE1	2632	broad.mit.edu	37	3	81586104	81586104	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:81586104C>T	ENST00000429644.2	-	13	2404	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	GBE1_ENST00000489715.1_Missense_Mutation_p.M546I	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	587					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.M587I(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCAATCTATTCATATCCCTGT	0.413000									Glycogen Storage Disease, type IV				19	75					0	0	0.007413	0	0
CAMK2G	818	broad.mit.edu	37	10	75574821	75574821	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:75574821G>C	ENST00000423381.1	-	22	1842	c.1719C>G	c.(1717-1719)ctC>ctG	p.L573L	CAMK2G_ENST00000322680.3_Silent_p.L541L|CAMK2G_ENST00000305762.7_Silent_p.L514L|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000351293.3_Silent_p.L480L|CAMK2G_ENST00000394762.2_Silent_p.L518L|CAMK2G_ENST00000322635.3_Silent_p.L512L|CAMK2G_ENST00000372765.1_Silent_p.L501L	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	543					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	p.L480L(1)|p.L541L(1)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					AGTGGACATTGAGCCACTTGC	0.662000													13	27					0	0	0.002450	0	0
CEP170	9859	broad.mit.edu	37	1	243328908	243328908	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:243328908G>C	ENST00000366542.1	-	13	2405	c.2354C>G	c.(2353-2355)tCa>tGa	p.S785*	RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Nonsense_Mutation_p.S687*|CEP170_ENST00000366543.1_Nonsense_Mutation_p.S687*	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	785						centriole|microtubule|spindle		p.S785*(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)			TGGAGGTTGTGATTCTTGTTT	0.398000													17	133					0	0	0.007413	0	0
CLSTN1	22883	broad.mit.edu	37	1	9801223	9801223	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:9801223G>A	ENST00000377298.4	-	10	2240	c.1448C>T	c.(1447-1449)tCt>tTt	p.S483F	CLSTN1_ENST00000377288.3_Missense_Mutation_p.S483F|CLSTN1_ENST00000361311.4_Missense_Mutation_p.S473F	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	483					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	p.S483F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CTCAGTCACAGAGAAGGGCTC	0.552000													19	79					0	0	0.010504	0	0
COL28A1	340267	broad.mit.edu	37	7	7413118	7413118	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:7413118C>G	ENST00000399429.3	-	32	2559	c.2419G>C	c.(2419-2421)Gaa>Caa	p.E807Q		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	807	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.E807Q(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCACGCTTTCTGAGCTGTCG	0.463000													41	134					0	0	0.006999	0	0
NKPD1	284353	broad.mit.edu	37	19	45655522	45655522	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:45655522G>A	ENST00000317951.4	-	4	2172	c.2173C>T	c.(2173-2175)Ctg>Ttg	p.L725L	NKPD1_ENST00000438936.2_Silent_p.L503L|NKPD1_ENST00000589776.1_Silent_p.L503L|NKPD1_ENST00000429338.1_Intron	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1									p.L503L(1)		endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TCGGCGCCCAGGAAGCGCTCG	0.672000													5	11					0	0	0.001168	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098975	178098975	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:178098975A>G	ENST00000397062.3	-	2	624	c.70T>C	c.(70-72)Tgg>Cgg	p.W24R	NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8R|NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8R|NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8R|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8R	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	24					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.W24R(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCTTGCCTCCAAAGTATGTCA	0.348000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			8	64					0	0	0.004482	0	0
ZNF462	58499	broad.mit.edu	37	9	109687655	109687655	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:109687655C>T	ENST00000277225.5	+	3	1751	c.1462C>T	c.(1462-1464)Cac>Tac	p.H488Y	ZNF462_ENST00000457913.1_Missense_Mutation_p.H488Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	488					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H488Y(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACTTGGGGCTCACAAACAGTG	0.448000													19	76					0	0	0.008871	0	0
LPHN2	23266	broad.mit.edu	37	1	82456494	82456494	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:82456494G>C	ENST00000370728.1	+	25	4690	c.4045G>C	c.(4045-4047)Gac>Cac	p.D1349H	LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.D1351H|LPHN2_ENST00000370717.2_Missense_Mutation_p.D1364H|LPHN2_ENST00000271029.4_Missense_Mutation_p.D1321H|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000319517.6_Missense_Mutation_p.D1293H|LPHN2_ENST00000370727.1_Missense_Mutation_p.D1321H|LPHN2_ENST00000335786.5_Missense_Mutation_p.D1306H|LPHN2_ENST00000370721.1_Missense_Mutation_p.D1274H|LPHN2_ENST00000370730.1_Missense_Mutation_p.D1306H|LPHN2_ENST00000370723.1_Missense_Mutation_p.D1351H|LPHN2_ENST00000370725.1_Missense_Mutation_p.D1364H|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000359929.3_Missense_Mutation_p.D1293H			O95490	LPHN2_HUMAN	latrophilin 2	1349					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.D1293H(1)|p.D1364H(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGAGGGAACTGACAGCTATGT	0.512000													28	100					0	0	0.004656	0	0
SPRYD3	84926	broad.mit.edu	37	12	53460160	53460160	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:53460160C>T	ENST00000301463.4	-	10	1218	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E415K	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	378	Glu-rich.							p.E378K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						tcttcctcttcctcctcttcc	0.572000											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	71					0	0	0.012319	0	0
CHIA	27159	broad.mit.edu	37	1	111854982	111854982	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:111854982C>G	ENST00000369740.1	+	4	329	c.226C>G	c.(226-228)Ctc>Gtc	p.L76V	CHIA_ENST00000343320.6_Missense_Mutation_p.L76V|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000353665.6_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	76					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	p.L76V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TGATGTGACTCTCTACCAAGC	0.453000													42	116					0	0	0.010771	0	0
VRTN	55237	broad.mit.edu	37	14	74824670	74824670	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:74824670C>G	ENST00000256362.4	+	2	1425	c.1184C>G	c.(1183-1185)tCa>tGa	p.S395*		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	395					transposition, DNA-mediated		DNA binding|transposase activity	p.S395*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGGCGGTGTCAAGCCCTGGA	0.607000													9	58					0	0	0.004482	0	0
MAP2	4133	broad.mit.edu	37	2	210557605	210557605	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:210557605G>A	ENST00000360351.4	+	7	1217	c.711G>A	c.(709-711)atG>atA	p.M237I	MAP2_ENST00000447185.1_Missense_Mutation_p.M233I|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	237					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.M237I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGGAAGACATGAAACAGAAGA	0.458000													23	105					0	0	0.004656	0	0
GLRA4	441509	broad.mit.edu	37	X	102974114	102974114	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:102974114G>C	ENST00000372617.4	-	7	1224	c.804C>G	c.(802-804)ctC>ctG	p.L268L		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	268						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.L268L(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGATGACGATGAGTAGGCTGG	0.557000													60	248					0	0	0.014410	0	0
GYPC	2995	broad.mit.edu	37	2	127453717	127453717	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:127453717G>A	ENST00000259254.4	+	4	717	c.386G>A	c.(385-387)tGa>tAa	p.*129*	GYPC_ENST00000356887.7_Silent_p.*108*|GYPC_ENST00000409836.3_Silent_p.*110*|GYPC_ENST00000464053.1_3'UTR	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	0						cortical cytoskeleton|integral to plasma membrane	protein binding	p.*129*(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		TACTTTATTTGAGGGACAACA	0.552000													10	34					0	0	0.006214	0	0
POLG2	11232	broad.mit.edu	37	17	62493011	62493011	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:62493011C>G	ENST00000539111.2	-	1	143	c.76G>C	c.(76-78)Gat>Cat	p.D26H		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	26					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	p.D26H(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TGCCCCGCATCTACTCGACCC	0.612000													39	109					0	0	0.009718	0	0
OTOP2	92736	broad.mit.edu	37	17	72929594	72929594	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:72929594G>A	ENST00000331427.4	+	7	1735	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H	OTOP2_ENST00000580223.1_Missense_Mutation_p.R548H	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	548						integral to membrane		p.R548H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATCTTCTACCGCATGCACGCT	0.607000													29	88					0	0	0.006320	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179851926	179851926	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:179851926G>A	ENST00000606911.2	+	1	480	c.289G>A	c.(289-291)Gag>Aag	p.E97K	TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.E97K|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.E97K|TOR1AIP1_ENST00000435319.4_5'UTR			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1							integral to membrane|nuclear inner membrane		p.E97K(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						TTCTGCGAAAGAGGAAGTGAG	0.597000													32	77					0	0	0.003755	0	0
VAC14	55697	broad.mit.edu	37	16	70817025	70817025	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:70817025C>G	ENST00000261776.5	-	7	982	c.722G>C	c.(721-723)gGa>gCa	p.G241A		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	241					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.G241A(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TAAGAATTCTCCAAGAACAAC	0.498000													36	109					0	0	0.006230	0	0
PARP9	83666	broad.mit.edu	37	3	122255822	122255822	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:122255822G>C	ENST00000462315.1	-	9	2157	c.1864C>G	c.(1864-1866)Caa>Gaa	p.Q622E	PARP9_ENST00000492382.1_Missense_Mutation_p.Q202E|PARP9_ENST00000360356.2_Missense_Mutation_p.Q657E|PARP9_ENST00000477522.2_Missense_Mutation_p.Q622E|PARP9_ENST00000471785.1_Missense_Mutation_p.Q622E	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	657					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	p.Q657E(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)		TGTTTCTTTTGATCTAGAAGC	0.353000													50	290					0	0	0.014410	0	0
PPP1R17	10842	broad.mit.edu	37	7	31746835	31746835	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:31746835G>A	ENST00000342032.3	+	5	1034	c.406G>A	c.(406-408)Gac>Aac	p.D136N	PPP1R17_ENST00000498609.1_3'UTR|PPP1R17_ENST00000409146.3_Missense_Mutation_p.D85N	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	136					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		p.D136N(1)									ATTGCTCAGGGACGAGAGACC	0.418000													13	69					0	0	0.002450	0	0
SDE2	163859	broad.mit.edu	37	1	226180638	226180638	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:226180638G>A	ENST00000272091.7	-	3	322	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W		NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)									p.R90W(1)|p.R102W(1)									CTGAGATCCCGACAAGCTTCT	0.423000													31	68					0	0	0.005524	0	0
MALAT1	378938	broad.mit.edu	37	11	65269702	65269702	+	RNA	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65269702G>C	ENST00000534336.1	+	0	4470					NR_002819.2																						ACAATTATGGGAAATGCAAAA	0.363000													7	42					0	0	0.003080	0	0
ISM1	140862	broad.mit.edu	37	20	13251215	13251215	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:13251215C>A	ENST00000262487.4	+	2	209	c.203C>A	c.(202-204)cCa>cAa	p.P68Q	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor							extracellular region		p.P68Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AAAGAAGCACCAAGGGAGCAT	0.502000													12	42					0.00185496	0.001881	0.001855	1	0
NEUROD1	4760	broad.mit.edu	37	2	182543515	182543515	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:182543515C>G	ENST00000295108.3	-	2	530	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	25					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.E25Q(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTGAGACACTCGTCTGTCCAG	0.557000													20	57					0	0	0.003954	0	0
ZMYM2	7750	broad.mit.edu	37	13	20567555	20567555	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:20567555G>A	ENST00000382869.3	+	3	594	c.343G>A	c.(343-345)Gag>Aag	p.E115K	ZMYM2_ENST00000382881.3_Missense_Mutation_p.E115K|ZMYM2_ENST00000382871.2_Missense_Mutation_p.E115K|ZMYM2_ENST00000382874.2_Missense_Mutation_p.E115K	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	p.E115K(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AAGTGTAAGTGAGACAATTGT	0.353000													13	33					0	0	0.001855	0	0
DMD	1756	broad.mit.edu	37	X	32429880	32429880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:32429880G>A	ENST00000357033.4	-	30	4428	c.4222C>T	c.(4222-4224)Cag>Tag	p.Q1408*	DMD_ENST00000378677.2_Nonsense_Mutation_p.Q1404*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1408					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.Q1404*(1)|p.Q67*(1)|p.Q1408*(1)|p.Q1403*(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)				TGGGCTTCCTGAGGCATTTGA	0.398000													29	98					0	0	0.010818	0	0
KLHL2	11275	broad.mit.edu	37	4	166220763	166220763	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:166220763G>T	ENST00000226725.6	+	8	1135	c.876G>T	c.(874-876)atG>atT	p.M292I	KLHL2_ENST00000506761.1_Missense_Mutation_p.M126I|KLHL2_ENST00000421009.2_Missense_Mutation_p.M195I|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.M296I|KLHL2_ENST00000538127.1_Missense_Mutation_p.M204I	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	292					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	p.M292I(1)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GTATATTAATGAAGAGTGTCC	0.433000													27	69					7.07758e-08	7.25529e-08	0.004656	1	0
CGN	57530	broad.mit.edu	37	1	151498241	151498241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:151498241G>T	ENST00000271636.7	+	9	1871	c.1738G>T	c.(1738-1740)Gag>Tag	p.E580*		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	574	Glu-rich.					myosin complex|tight junction	actin binding|motor activity	p.E580*(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGAACAAGGAGGATCTTAG	0.468000													10	45					1.58986e-06	1.62446e-06	0.008291	1	0
ELFN2	114794	broad.mit.edu	37	22	37770273	37770273	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:37770273G>A	ENST00000402918.2	-	3	2087	c.1302C>T	c.(1300-1302)gtC>gtT	p.V434V	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane		p.V434V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGGTCTTCTTGACGTTGACAG	0.617000													58	197					0	0	0.014410	0	0
PCDH7	5099	broad.mit.edu	37	4	30723906	30723906	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:30723906C>T	ENST00000361762.2	+	1	1870	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	PCDH7_ENST00000543491.1_Missense_Mutation_p.R288C	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	288	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.R288C(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CGACCCGCCTCGCTCCTCGCA	0.672000													3	5					0	0	0.004672	0	0
CYB5RL	606495	broad.mit.edu	37	1	54644891	54644891	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:54644891G>C	ENST00000419823.2	-	6	899	c.675C>G	c.(673-675)atC>atG	p.I225M	CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000534324.1_Missense_Mutation_p.I225M|CYB5RL_ENST00000401046.3_Missense_Mutation_p.I77M|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000542737.1_Missense_Mutation_p.I225M|CYB5RL_ENST00000537208.1_Intron	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	225							cytochrome-b5 reductase activity	p.I225M(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TTTTCAGGTAGATGCTCTCAA	0.512000													7	12					0	0	0.001984	0	0
SCN3A	6328	broad.mit.edu	37	2	165956815	165956815	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:165956815C>T	ENST00000360093.3	-	22	4454	c.3963G>A	c.(3961-3963)atG>atA	p.M1321I	SCN3A_ENST00000409101.3_Missense_Mutation_p.M1272I|SCN3A_ENST00000283254.7_Missense_Mutation_p.M1321I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1321						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.M1321I(1)|p.M1272I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTCTTACCCTCATGCCTTCAA	0.378000													35	117					0	0	0.004878	0	0
PAXIP1	22976	broad.mit.edu	37	7	154738261	154738261	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:154738261C>T	ENST00000404141.1	-	19	3248	c.3094G>A	c.(3094-3096)Gac>Aac	p.D1032N	PAXIP1_ENST00000397192.1_Missense_Mutation_p.D1032N|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1032	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		p.D1032N(1)|p.D998N(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AAATGAAGGTCATTTTCACAG	0.423000													6	40					0	0	0.001168	0	0
DNAH8	1769	broad.mit.edu	37	6	38881670	38881670	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:38881670C>T	ENST00000359357.3	+	65	9508	c.9254C>T	c.(9253-9255)tCt>tTt	p.S3085F	DNAH8_ENST00000449981.2_Missense_Mutation_p.S3302F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3049F					dynein, axonemal, heavy chain 8									p.S3085F(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCTAAACTCTCTCAGGATCTT	0.378000													20	53					0	0	0.005443	0	0
TPM2	7169	broad.mit.edu	37	9	35689748	35689748	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:35689748C>T	ENST00000378292.3	-	1	1269	c.67G>A	c.(67-69)Gag>Aag	p.E23K	TPM2_ENST00000329305.2_Missense_Mutation_p.E23K|TPM2_ENST00000378300.5_Missense_Mutation_p.E23K|TPM2_ENST00000360958.2_Missense_Mutation_p.E23K	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	23					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	p.E23K(2)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGGCCTGCTCGGCGCGGTCG	0.677000													55	193					0	0	0.014410	0	0
FADS3	3995	broad.mit.edu	37	11	61644427	61644427	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:61644427G>C	ENST00000540820.1	-	8	966	c.894C>G	c.(892-894)ctC>ctG	p.L298L	FADS3_ENST00000278829.2_Silent_p.L298L|FADS3_ENST00000525588.1_Silent_p.L270L|FADS3_ENST00000527697.1_Silent_p.L174L			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	298					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	p.L298L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGCGGCCCAGAGCAAATCCT	0.617000													3	10					0	0	0.004672	0	0
WDR96	80217	broad.mit.edu	37	10	105903397	105903397	+	Splice_Site	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:105903397C>T	ENST00000357060.3	-	32	4060	c.3945G>A	c.(3943-3945)agG>agA	p.R1315R	WDR96_ENST00000428666.1_Splice_Site_p.R1287R	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1315								p.R1315R(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTTGGAAATCCTGGTATTAC	0.418000													3	27					0	0	0.004672	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384199	62384199	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:62384199G>C	ENST00000531383.1	-	4	894	c.688C>G	c.(688-690)Cag>Gag	p.Q230E	B3GAT3_ENST00000534026.1_Missense_Mutation_p.Q230E|B3GAT3_ENST00000265471.5_Missense_Mutation_p.Q230E			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	230					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	p.Q230E(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TCCTGTACCTGAGGGCCCTCG	0.647000													7	21					0	0	0.003080	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45514011	45514011	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:45514011C>G	ENST00000291574.4	+	20	3240	c.3065C>G	c.(3064-3066)tCt>tGt	p.S1022C	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1022					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.S1022C(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						CCTCCCCCTTCTCTGCATTGC	0.478000													39	176					0	0	0.009718	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705016	41705016	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41705016C>G	ENST00000379485.1	-	1	1866	c.1632G>C	c.(1630-1632)tgG>tgC	p.W544C	KBTBD6_ENST00000499385.2_Missense_Mutation_p.W478C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	544							protein binding	p.W544C(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)		TCATTTGCCTCCATTCTGCCC	0.448000													52	173					0	0	0.014410	0	0
SYT5	6861	broad.mit.edu	37	19	55689630	55689630	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:55689630C>T	ENST00000354308.3	-	3	555	c.186G>A	c.(184-186)aaG>aaA	p.K62K	SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Silent_p.K62K	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	62					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.K62K(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGGCCTGGCTCTTCTTGCCTG	0.632000													3	12					0	0	0.000602	0	0
ZNF727	442319	broad.mit.edu	37	7	63538522	63538522	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:63538522G>C	ENST00000550760.3	+	4	1274	c.1095G>C	c.(1093-1095)ttG>ttC	p.L365F		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L365F(1)		endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						ATATGGAATTGAGACCTTACA	0.393000													7	18					0	0	0.001984	0	0
CTAGE5	4253	broad.mit.edu	37	14	39762517	39762517	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:39762517G>A	ENST00000553728.1	+	10	2245	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	CTAGE5_ENST00000348007.3_Missense_Mutation_p.D143N|CTAGE5_ENST00000396165.4_Missense_Mutation_p.D114N|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.D114N|CTAGE5_ENST00000396158.2_Missense_Mutation_p.D148N|CTAGE5_ENST00000557038.1_Missense_Mutation_p.D63N|CTAGE5_ENST00000553352.1_Missense_Mutation_p.D114N|CTAGE5_ENST00000280083.3_Missense_Mutation_p.D143N|CTAGE5_ENST00000556148.1_Missense_Mutation_p.D68N|CTAGE5_ENST00000341749.3_Missense_Mutation_p.D131N|CTAGE5_ENST00000341502.5_Missense_Mutation_p.D143N														p.D143N(1)									TGAACTTGAGGATGAAATACT	0.323000													6	66					0	0	0.003080	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70650368	70650368	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:70650368C>G	ENST00000260126.4	-	5	2036	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q	SLCO5A1_ENST00000530307.1_Intron|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.E444Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity	p.E444Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGGCACTCTCAGCTGTGTAT	0.423000													11	82					0	0	0.010729	0	0
FANCD2	2177	broad.mit.edu	37	3	10089620	10089620	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:10089620C>T	ENST00000287647.3	+	16	1391	c.1298C>T	c.(1297-1299)tCa>tTa	p.S433L	FANCD2_ENST00000419585.1_Missense_Mutation_p.S433L|FANCD2_ENST00000383806.1_Missense_Mutation_p.S433L|FANCD2_ENST00000383807.1_Missense_Mutation_p.S433L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	433					DNA repair|response to gamma radiation	nucleoplasm	protein binding	p.S433L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GATATGTGTTCATCCATTCTG	0.393000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				51	283					0	0	0.014410	0	0
TEX2	55852	broad.mit.edu	37	17	62290676	62290676	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:62290676G>C	ENST00000258991.3	-	2	986	c.902C>G	c.(901-903)cCt>cGt	p.P301R	TEX2_ENST00000583097.1_Missense_Mutation_p.P301R|TEX2_ENST00000584379.1_Missense_Mutation_p.P301R			Q8IWB9	TEX2_HUMAN	testis expressed 2	301					signal transduction|sphingolipid metabolic process	integral to membrane		p.P301R(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GAGCTGAAAAGGCTCATAGAT	0.433000													22	55					0	0	0.012319	0	0
VPS13D	55187	broad.mit.edu	37	1	12333105	12333105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:12333105C>T	ENST00000358136.3	+	18	2279	c.2149C>T	c.(2149-2151)Cag>Tag	p.Q717*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q717*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	717					protein localization			p.Q717*(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTCTGCCCCTCAGGTGATATT	0.428000													27	101					0	0	0.007291	0	0
NAIF1	203245	broad.mit.edu	37	9	130829327	130829327	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:130829327C>T	ENST00000373078.4	-	1	273	c.54G>A	c.(52-54)gaG>gaA	p.E18E		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	18	Required for nuclear localization and apoptosis-inducing activity.				apoptosis|induction of apoptosis	nucleus		p.E18E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCACGATGATCTCCACCTCCC	0.577000													68	240					0	0	0.014410	0	0
LPHN1	22859	broad.mit.edu	37	19	14269281	14269281	+	Missense_Mutation	SNP	C	C	T	rs146726289		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:14269281C>T	ENST00000340736.6	-	13	2545	c.2248G>A	c.(2248-2250)Gaa>Aaa	p.E750K	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.E745K	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	750					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.E750K(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGCCTGCTTCGCCGGCCAGC	0.597000													16	45					0	0	0.003163	0	0
GABRA4	2557	broad.mit.edu	37	4	46967025	46967025	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:46967025G>C	ENST00000264318.3	-	8	2078	c.1096C>G	c.(1096-1098)Cca>Gca	p.P366A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	366					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P366A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCTGCACTGGAGCAGCGGGA	0.433000													20	83					0	0	0.002780	0	0
PAFAH2	5051	broad.mit.edu	37	1	26288494	26288494	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:26288494G>C	ENST00000374282.3	-	11	1344	c.1165C>G	c.(1165-1167)Ctg>Gtg	p.L389V	PAFAH2_ENST00000374284.1_Missense_Mutation_p.L389V	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	389					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	p.L389V(1)		NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCTGGACAGATGGTGGGGG	0.488000													83	252					0	0	0.014410	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124152833	124152833	+	Silent	SNP	C	C	T	rs142005373		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:124152833C>T	ENST00000368988.1	+	2	240	c.117C>T	c.(115-117)ttC>ttT	p.F39F	PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000538022.1_Silent_p.F39F|PLEKHA1_ENST00000368990.3_Silent_p.F39F|PLEKHA1_ENST00000433307.1_Silent_p.F39F|PLEKHA1_ENST00000368989.2_Silent_p.F39F			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	39	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	p.F39F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AAGATAGTTTCGTGTGGTACA	0.343000													22	73					0	0	0.014323	0	0
RARA	5914	broad.mit.edu	37	17	38512341	38512341	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:38512341G>A	ENST00000254066.5	+	9	1707	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	RARA_ENST00000394086.3_Missense_Mutation_p.E434K|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394081.3_Missense_Mutation_p.E413K|RARA_ENST00000394089.2_Missense_Mutation_p.E418K|RARA_ENST00000425707.3_Missense_Mutation_p.E321K	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	418	Ligand-binding.|Required for binding corepressor NCOR1.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.E418K(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GGAGAACTCAGAGGGCCTGGA	0.692000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								3	20					0	0	0.004672	0	0
RSPRY1	89970	broad.mit.edu	37	16	57269103	57269103	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:57269103G>A	ENST00000537866.1	+	14	2470	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	RSPRY1_ENST00000394420.4_Missense_Mutation_p.E533K|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	533						extracellular region	zinc ion binding	p.E533K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TTGTTGTGATGAGGTAGCAGA	0.403000													15	44					0	0	0.004990	0	0
PDE1A	5136	broad.mit.edu	37	2	183095762	183095762	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:183095762C>T	ENST00000435564.1	-	5	762	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PDE1A_ENST00000358139.2_Missense_Mutation_p.D188N|PDE1A_ENST00000346717.4_Missense_Mutation_p.D154N|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000456212.1_Missense_Mutation_p.D188N|PDE1A_ENST00000536095.1_Missense_Mutation_p.D84N|PDE1A_ENST00000409365.1_Missense_Mutation_p.D172N|PDE1A_ENST00000331935.6_Missense_Mutation_p.D188N|PDE1A_ENST00000410103.1_Missense_Mutation_p.D188N|PDE1A_ENST00000351439.5_Missense_Mutation_p.D172N	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	188					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.D188N(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTGATAAGATCATATCTGGTA	0.338000													41	131					0	0	0.008740	0	0
CCDC47	57003	broad.mit.edu	37	17	61842116	61842116	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:61842116G>A	ENST00000225726.5	-	3	738	c.356C>T	c.(355-357)cCa>cTa	p.P119L	CCDC47_ENST00000582252.1_Missense_Mutation_p.P119L|CCDC47_ENST00000403162.3_Missense_Mutation_p.P119L	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	119						integral to membrane	protein binding	p.P119L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AATCGTTATTGGGTCTTTATT	0.338000													32	96					0	0	0.012213	0	0
GAPVD1	26130	broad.mit.edu	37	9	128111713	128111713	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:128111713G>A	ENST00000470056.1	+	18	3293	c.3133G>A	c.(3133-3135)Gaa>Aaa	p.E1045K	GAPVD1_ENST00000297933.6_Missense_Mutation_p.E1072K|GAPVD1_ENST00000495955.1_Missense_Mutation_p.E1090K|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E1024K|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E1090K|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E1099K|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E1051K|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E1064K			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1090					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	p.E1099K(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCCCGTGACGAAGCACTGCA	0.478000													38	118					0	0	0.005524	0	0
BPIFA2	140683	broad.mit.edu	37	20	31760844	31760844	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:31760844C>T	ENST00000253362.2	+	3	410	c.264C>T	c.(262-264)gtC>gtT	p.V88V	BPIFA2_ENST00000354932.5_Silent_p.V88V			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	88						extracellular region	lipid binding	p.V88V(1)									TGAACAATGTCATTTCTAAGC	0.463000													26	62					0	0	0.005443	0	0
LRRK2	120892	broad.mit.edu	37	12	40753217	40753217	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:40753217G>C	ENST00000298910.7	+	47	7057	c.6999G>C	c.(6997-6999)caG>caC	p.Q2333H		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2333					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.Q2340H(1)|p.Q2333H(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCACCATTCAGAAACTCATTG	0.303000													16	64					0	0	0.006122	0	0
SMAD4	4089	broad.mit.edu	37	18	48591846	48591846	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:48591846G>A	ENST00000342988.3	+	9	1547	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	SMAD4_ENST00000588745.1_Missense_Mutation_p.E241K|SMAD4_ENST00000398417.2_Missense_Mutation_p.E337K	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	337	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.E337K(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGGTAGGAGAGACATTTAA	0.418000													45	121					0	0	0.014410	0	0
TBC1D5	9779	broad.mit.edu	37	3	17300041	17300041	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:17300041C>G	ENST00000253692.7	-	16	2952	c.1288G>C	c.(1288-1290)Gat>Cat	p.D430H	TBC1D5_ENST00000429383.4_Missense_Mutation_p.D430H|TBC1D5_ENST00000429924.2_Missense_Mutation_p.D382H|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.D430H	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	430						intracellular	protein binding|Rab GTPase activator activity	p.D430H(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TTGTAATAATCTAAATTTGGA	0.308000													62	208					0	0	0.014410	0	0
FAT4	79633	broad.mit.edu	37	4	126371891	126371891	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:126371891C>G	ENST00000394329.3	+	9	9733	c.9720C>G	c.(9718-9720)ctC>ctG	p.L3240L	FAT4_ENST00000335110.5_Silent_p.L1538L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3240	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L3240L(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGTGACCTCTTTGTCATTG	0.443000													23	117					0	0	0.012319	0	0
FBXW12	285231	broad.mit.edu	37	3	48423544	48423544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:48423544G>T	ENST00000296438.5	+	10	1450	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*	FBXW12_ENST00000436231.1_Nonsense_Mutation_p.E265*|FBXW12_ENST00000415155.1_Nonsense_Mutation_p.E352*|FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000445170.1_Nonsense_Mutation_p.E403*	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	422								p.E422*(1)|p.E422K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGTCACCTGGAAAACACGTG	0.483000													9	39					9.31168e-06	9.49367e-06	0.001855	1	0
CPNE1	8904	broad.mit.edu	37	20	34220101	34220101	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:34220101C>G	ENST00000317619.3	-	7	834	c.440G>C	c.(439-441)aGa>aCa	p.R147T	CPNE1_ENST00000397442.1_Missense_Mutation_p.R147T|CPNE1_ENST00000397446.1_Missense_Mutation_p.R147T|CPNE1_ENST00000352393.4_Missense_Mutation_p.R147T|CPNE1_ENST00000317677.5_Missense_Mutation_p.R152T|CPNE1_ENST00000397443.1_Missense_Mutation_p.R147T|CPNE1_ENST00000397445.1_Missense_Mutation_p.R147T			Q99829	CPNE1_HUMAN	copine I	147	C2 2.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	p.R147T(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATCTAGGTTTCTGGCCTCTAC	0.483000													21	69					0	0	0.004656	0	0
RNF39	80352	broad.mit.edu	37	6	30043478	30043478	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:30043478G>A	ENST00000244360.6	-	1	186	c.89C>T	c.(88-90)gCg>gTg	p.A30V	RNF39_ENST00000376751.3_Missense_Mutation_p.A30V	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	30						cytoplasm	zinc ion binding	p.A30V(1)									TCCGACTCCCGCATTAACTTT	0.607000													28	79					0	0	0.008361	0	0
LILRA6	79168	broad.mit.edu	37	19	54746131	54746131	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:54746131C>T	ENST00000440558.2	-	3	174	c.126G>A	c.(124-126)ggG>ggA	p.G42G	LILRA6_ENST00000270464.5_Silent_p.G42G|LILRA6_ENST00000419410.2_Silent_p.G42G|LILRA6_ENST00000396365.2_Silent_p.G42G|LILRB3_ENST00000407860.2_Silent_p.G42G|LILRA6_ENST00000391735.3_Silent_p.G42G|LILRA6_ENST00000245621.5_Silent_p.G42G					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.G42G(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACGGGGCTCCCCCAGCTGA	0.602000													27	169					0	0	0.005443	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769841	112769841	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:112769841G>A	ENST00000390666.3	-	1	887	c.696C>T	c.(694-696)cgC>cgT	p.R232R	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	232	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R232R(1)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GGAAGTTGACGCGGTGCTCCT	0.587000													16	65					0	0	0.004990	0	0
TMOD2	29767	broad.mit.edu	37	15	52069173	52069173	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:52069173G>A	ENST00000249700.4	+	5	672	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	TMOD2_ENST00000539962.2_Missense_Mutation_p.E107K|TMOD2_ENST00000435126.2_Missense_Mutation_p.E151K	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	151					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	p.E151K(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		AAAGTTCGATGAAGAAACAGC	0.418000													23	59					0	0	0.004656	0	0
BAG5	9529	broad.mit.edu	37	14	104026370	104026370	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:104026370C>A	ENST00000445922.2	-	2	1378	c.1132G>T	c.(1132-1134)Gag>Tag	p.E378*	RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000337322.4_Nonsense_Mutation_p.E419*|BAG5_ENST00000299204.4_Nonsense_Mutation_p.E378*	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	378	BAG 5.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	p.E378*(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CCCTGGATCTCAGACAAGTTT	0.483000													39	121					1.34996e-11	1.39452e-11	0.009718	1	0
ITGB3	3690	broad.mit.edu	37	17	45384893	45384893	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:45384893C>G	ENST00000559488.1	+	14	2207	c.2191C>G	c.(2191-2193)Ctg>Gtg	p.L731V	ITGB3_ENST00000560629.1_Missense_Mutation_p.S719C|RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000435993.2_Missense_Mutation_p.L684V	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	731					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.L684V(1)|p.L731V(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GGGGGCCATTCTGCTCATTGG	0.547000													18	53					0	0	0.006122	0	0
ZNF655	79027	broad.mit.edu	37	7	99170930	99170930	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:99170930G>C	ENST00000424881.1	+	4	1524	c.1304G>C	c.(1303-1305)aGa>aCa	p.R435T	ZNF655_ENST00000493277.1_Missense_Mutation_p.R435T|ZNF655_ENST00000252713.4_Missense_Mutation_p.R400T|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.R400T	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	400					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.R435T(1)|p.R400T(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CAGCATCAAAGAATTCACACA	0.353000													23	72					0	0	0.014323	0	0
ALG3	10195	broad.mit.edu	37	3	183967044	183967044	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:183967044C>G	ENST00000445626.2	-	1	292	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	ALG3_ENST00000455059.1_5'UTR|EIF2B5_ENST00000444495.1_Intron	NM_001006941.2	NP_001006942.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	0					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	p.E8Q(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCAGCATTCTCCTTCGCCTGC	0.577000											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	22					0	0	0.001984	0	0
DCTN5	84516	broad.mit.edu	37	16	23669929	23669929	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:23669929C>G	ENST00000300087.2	+	3	370	c.219C>G	c.(217-219)ttC>ttG	p.F73L	DCTN5_ENST00000563998.1_Missense_Mutation_p.F73L|DCTN5_ENST00000568589.1_Missense_Mutation_p.F73L	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	73						centrosome	transferase activity	p.F73L(1)		endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		GGCCACCATTCAAGAAGTTCA	0.423000													36	109					0	0	0.004878	0	0
RAB40B	10966	broad.mit.edu	37	17	80616472	80616472	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:80616472C>G	ENST00000571995.1	-	5	591	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Intron	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	154					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.E154Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGGCTGACCTCAAAGAAGGTC	0.652000													34	82					0	0	0.003271	0	0
T	6862	broad.mit.edu	37	6	166571975	166571975	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:166571975G>C	ENST00000296946.2	-	9	1604	c.1136C>G	c.(1135-1137)tCc>tGc	p.S379C	T_ENST00000366871.3_Missense_Mutation_p.S321C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	379					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.S379C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GTGCGCGGGGGAGCCCCGGAA	0.706000									Chordoma, Familial Clustering of				13	55					0	0	0.004990	0	0
CAMTA2	23125	broad.mit.edu	37	17	4877697	4877697	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4877697C>T	ENST00000361571.5	-	11	2407	c.1996G>A	c.(1996-1998)Gat>Aat	p.D666N	CAMTA2_ENST00000381311.5_Missense_Mutation_p.D669N|CAMTA2_ENST00000358183.4_Missense_Mutation_p.D667N|CAMTA2_ENST00000348066.3_Missense_Mutation_p.D667N|CAMTA2_ENST00000572543.1_Missense_Mutation_p.D672N|CAMTA2_ENST00000414043.3_Missense_Mutation_p.D690N|RP5-1050D4.2_ENST00000430920.1_RNA	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	667					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	p.D667N(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGAGGAGCATCAGGACCCTGG	0.572000													21	103					0	0	0.014323	0	0
BCAP29	55973	broad.mit.edu	37	7	107253828	107253828	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:107253828G>C	ENST00000379119.2	+	6	655	c.641G>C	c.(640-642)aGa>aCa	p.R214T	BCAP29_ENST00000005259.4_Missense_Mutation_p.R214T|BCAP29_ENST00000379121.2_Missense_Mutation_p.R120T|BCAP29_ENST00000465919.1_Missense_Mutation_p.R120T|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379117.2_Missense_Mutation_p.R214T|BCAP29_ENST00000445771.2_Missense_Mutation_p.R214T	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	214					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		p.R214T(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CAGTCAGAGAGACTTTCGAAA	0.328000													11	41					0	0	0.013537	0	0
CHRNB3	1142	broad.mit.edu	37	8	42585842	42585842	+	Missense_Mutation	SNP	G	G	A	rs75170626		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:42585842G>A	ENST00000289957.2	+	4	483	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	119					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.E119K(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGTTCTCTTTGAAAAGTAAGT	0.398000													14	58					0	0	0.003163	0	0
PPP1CA	5499	broad.mit.edu	37	11	67166321	67166321	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67166321C>T	ENST00000376745.4	-	6	902	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	PPP1CA_ENST00000358239.4_Missense_Mutation_p.E208K|PPP1CA_ENST00000312989.7_Missense_Mutation_p.E263K|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	252					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	p.E252K(1)|p.E263K(1)|p.E349K(1)		breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TAGCCGTCTTCTACCACCTGG	0.627000													34	85					0	0	0.006230	0	0
FAM83H	286077	broad.mit.edu	37	8	144808291	144808291	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:144808291C>T	ENST00000388913.3	-	5	3465	c.3340G>A	c.(3340-3342)Gag>Aag	p.E1114K		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1114					biomineral tissue development			p.E1114K(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCGCGCTCCTCCGCGCTGGCT	0.652000													3	14					0	0	0.001168	0	0
SETD8	387893	broad.mit.edu	37	12	123875261	123875261	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:123875261G>A	ENST00000402868.3	+	3	643	c.217G>A	c.(217-219)Gag>Aag	p.E73K	SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Missense_Mutation_p.E73K			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	114					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	p.E73K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CCTTCAGGAAGAGAACTCAGT	0.453000													24	90					0	0	0.003330	0	0
C2orf16	84226	broad.mit.edu	37	2	27801442	27801442	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:27801442C>T	ENST00000408964.2	+	1	2054	c.2003C>T	c.(2002-2004)tCt>tTt	p.S668F		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	668								p.S668F(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCGCAAACATCTCCATTTGAG	0.408000													72	103					0	0	0.014410	0	0
CHST6	4166	broad.mit.edu	37	16	75512842	75512842	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:75512842G>A	ENST00000332272.4	-	3	1064	c.885C>T	c.(883-885)ctC>ctT	p.L295L	CHST6_ENST00000390664.2_Silent_p.L295L|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	295					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.L295L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTGTGGCGTGAGACTGAGCC	0.647000													14	58					0	0	0.003163	0	0
DMBT1	1755	broad.mit.edu	37	10	124358521	124358521	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:124358521C>G	ENST00000338354.3	+	26	3294	c.3188C>G	c.(3187-3189)tCa>tGa	p.S1063*	DMBT1_ENST00000344338.3_Nonsense_Mutation_p.S1053*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.S1063*|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.S1053*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.S564*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.S564*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1063	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.S1063*(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGCGCTGCTCAGGACACGAG	0.607000													43	146					0	0	0.007835	0	0
TTN	7273	broad.mit.edu	37	2	179583286	179583286	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:179583286C>G	ENST00000589042.1	-	85	24771	c.24547G>C	c.(24547-24549)Gag>Cag	p.E8183Q	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E7866Q|TTN_ENST00000342992.6_Missense_Mutation_p.E6939Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7866	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E6939Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCTGTCTCAACACTGAAA	0.423000													9	49					0	0	0.004482	0	0
ECE2	9718	broad.mit.edu	37	3	184009972	184009972	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:184009972C>T	ENST00000402825.3	+	19	2598	c.2598C>T	c.(2596-2598)ttC>ttT	p.F866F	ECE2_ENST00000404464.3_Silent_p.F748F|ECE2_ENST00000359140.4_Silent_p.F719F|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Silent_p.F794F	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	866	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.F866F(1)|p.F719F(1)|p.F794F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCGGCACTTCGGCTGCCCTG	0.657000													29	154					0	0	0.009535	0	0
HOOK1	51361	broad.mit.edu	37	1	60336747	60336747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:60336747G>T	ENST00000371208.3	+	21	2238	c.1981G>T	c.(1981-1983)Gaa>Taa	p.E661*	HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E619*|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	661	Sufficient for interaction with AKTIP and VPS18.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	p.E661*(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CCGTGATTATGAAGAAAAACT	0.328000													19	45					3.5997e-14	3.73081e-14	0.014323	1	0
ZNF655	79027	broad.mit.edu	37	7	99170257	99170257	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:99170257G>A	ENST00000424881.1	+	4	851	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	ZNF655_ENST00000493277.1_Missense_Mutation_p.E211K|ZNF655_ENST00000252713.4_Missense_Mutation_p.E176K|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.E176K	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	176					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.E176K(1)|p.E211K(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TGGTAAACATGAACACTTAAA	0.378000													9	57					0	0	0.004482	0	0
FLVCR1	28982	broad.mit.edu	37	1	213032118	213032118	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:213032118C>A	ENST00000366971.4	+	1	522	c.324C>A	c.(322-324)ttC>ttA	p.F108L		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	108					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	p.F108L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CGCGGCGCTTCGTGGTGCTCC	0.657000													14	27					2.31682e-05	2.35698e-05	0.003163	1	0
HDX	139324	broad.mit.edu	37	X	83723964	83723964	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:83723964C>T	ENST00000297977.5	-	3	878	c.767G>A	c.(766-768)aGa>aAa	p.R256K	HDX_ENST00000506585.2_Missense_Mutation_p.R198K|HDX_ENST00000373177.2_Missense_Mutation_p.R256K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	256						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R256K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTTTTGTGTTCTACAGTAAGG	0.453000													47	163					0	0	0.014410	0	0
TUBB3	10381	broad.mit.edu	37	16	89998985	89998985	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:89998985G>A	ENST00000556922.1	+	3	1199	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	TUBB3_ENST00000554444.1_5'UTR|TUBB3_ENST00000315491.7_Missense_Mutation_p.E22K|TUBB3_ENST00000304984.5_5'UTR|TUBB3_ENST00000555576.1_Missense_Mutation_p.E22K|TUBB3_ENST00000554336.1_Missense_Mutation_p.E22K|TUBB3_ENST00000553967.1_Missense_Mutation_p.E22K			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	22					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.E22K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCAGTTCTGGGAAGTCATCAG	0.587000													14	53					0	0	0.003163	0	0
GTSE1	51512	broad.mit.edu	37	22	46693369	46693369	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:46693369G>A	ENST00000454366.1	+	2	284	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	5	Poly-Ser.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.K24K(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		ATGACCCTAAGAAGGAAGGCA	0.547000													23	97					0	0	0.008361	0	0
NLRP10	338322	broad.mit.edu	37	11	7981789	7981789	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:7981789G>A	ENST00000328600.2	-	2	1531	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	457	NACHT.						ATP binding	p.A457V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCTTGATGGCAAGTCCCAA	0.493000													43	170					0	0	0.010771	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29883590	29883590	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:29883590G>A	ENST00000308713.5	-	16	3148	c.2621C>T	c.(2620-2622)tCc>tTc	p.S874F	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.S817F|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.S843F|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.S773F	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	874						endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.S874F(1)|p.S817F(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCGAAAAGGGACTTTCCCTG	0.602000													11	54					0	0	0.013537	0	0
CORO7	79585	broad.mit.edu	37	16	4412079	4412079	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:4412079G>A	ENST00000251166.4	-	16	1630	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	CORO7_ENST00000574025.1_Silent_p.L410L|CORO7_ENST00000423908.2_Silent_p.L327L|CORO7_ENST00000537233.2_Silent_p.L477L|CORO7-PAM16_ENST00000572467.1_Silent_p.L495L|CORO7_ENST00000539968.1_Silent_p.L275L	NM_024535.4	NP_078811.3			coronin 7									p.L495L(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CAGGTGTGGTGAGGTTGAGCC	0.642000													12	46					0	0	0.008871	0	0
BPIFA3	128861	broad.mit.edu	37	20	31813019	31813019	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:31813019G>C	ENST00000375454.3	+	4	712	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	BPIFA3_ENST00000375452.3_Missense_Mutation_p.E132Q|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	168						extracellular region	lipid binding	p.E168Q(1)									ATGCGATGCAGAGCCCAGCAG	0.572000													42	132					0	0	0.008740	0	0
PLXNB2	23654	broad.mit.edu	37	22	50721499	50721499	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:50721499G>A	ENST00000449103.1	-	17	2936	c.2796C>T	c.(2794-2796)ctC>ctT	p.L932L	PLXNB2_ENST00000359337.4_Silent_p.L932L			O15031	PLXB2_HUMAN	plexin B2	932	IPT/TIG 2.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.L975L(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGACGCCGTTGAGGGTCACCC	0.677000													11	17					0	0	0.010729	0	0
ARL4D	379	broad.mit.edu	37	17	41477529	41477529	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:41477529G>A	ENST00000320033.4	+	2	636	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	143					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding	p.L143L(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCGGGGCACTGAGCGCTGCTG	0.657000													6	11					0	0	0.001168	0	0
AP5M1	55745	broad.mit.edu	37	14	57741516	57741516	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:57741516C>G	ENST00000261558.3	+	2	1035	c.629C>G	c.(628-630)tCt>tGt	p.S210C	AP5M1_ENST00000431972.2_Missense_Mutation_p.S224C	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	210	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		p.S210C(1)									CCACAAGTTTCTATTTCTATC	0.378000													22	101					0	0	0.014323	0	0
COL2A1	1280	broad.mit.edu	37	12	48369179	48369179	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:48369179G>A	ENST00000380518.3	-	51	3971	c.3807C>T	c.(3805-3807)atC>atT	p.I1269I	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.I1200I	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1269	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.I1269I(1)|p.I1200I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CGGGGCTGCGGATGCTCTCAA	0.607000													25	91					0	0	0.003954	0	0
TK1	7083	broad.mit.edu	37	17	76171137	76171137	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:76171137C>T	ENST00000588734.1	-	6	745	c.507G>A	c.(505-507)gaG>gaA	p.E169E	TK1_ENST00000590430.1_3'UTR|TK1_ENST00000590862.1_Silent_p.E169E|TK1_ENST00000301634.7_Silent_p.E169E|TK1_ENST00000405273.1_Silent_p.E169E			P04183	KITH_HUMAN	thymidine kinase 1, soluble	169					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding	p.E169E(2)		endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			CTACCTCCTTCTCTGTGCCGA	0.662000													12	18					0	0	0.001855	0	0
NPDC1	56654	broad.mit.edu	37	9	139937474	139937474	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:139937474C>G	ENST00000371600.3	-	1	1070	c.398G>C	c.(397-399)aGg>aCg	p.R133T	NPDC1_ENST00000371601.4_Missense_Mutation_p.R55T|NPDC1_ENST00000488145.1_5'UTR			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	55						integral to membrane		p.R55T(1)		NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGGAGGACACCTTGCCCGCCT	0.687000													14	30					0	0	0.002450	0	0
MLLT4	4301	broad.mit.edu	37	6	168344641	168344641	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:168344641G>C	ENST00000366806.2	+	26	3381	c.3239G>C	c.(3238-3240)aGa>aCa	p.R1080T	MLLT4_ENST00000392112.1_Missense_Mutation_p.R1063T|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1087T|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1079T|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1080T|MLLT4_ENST00000447894.2_Missense_Mutation_p.R1080T|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1080T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1080	PDZ.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.R1080T(1)|p.R1064T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTCATGACAAGAACAAGCTCT	0.488000			T	MLL	AL								27	66					0	0	0.004656	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417101	121417101	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:121417101G>T	ENST00000393667.3	-	13	2379	c.2269C>A	c.(2269-2271)Cag>Aag	p.Q757K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q752K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	752					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.Q752K(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCCTTCACCTGAGAGAGAAGC	0.418000													41	217					1.30091e-30	1.36639e-30	0.006999	1	0
DCP1A	55802	broad.mit.edu	37	3	53326414	53326414	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:53326414C>T	ENST00000607628.1	-	7	1177	c.1068G>A	c.(1066-1068)ctG>ctA	p.L356L	DCP1A_ENST00000606822.1_Silent_p.L318L|DCP1A_ENST00000294241.6_Silent_p.L356L|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	356					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	p.L356L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CTGGCTGGTTCAGGAGTGGAG	0.582000													25	66					0	0	0.004656	0	0
BHMT2	23743	broad.mit.edu	37	5	78373343	78373343	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:78373343G>C	ENST00000255192.3	+	2	140	c.74G>C	c.(73-75)gGa>gCa	p.G25A	BHMT2_ENST00000521567.1_Missense_Mutation_p.G25A|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	25	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.G25A(1)		endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GTTGTGATTGGAGATGGCAGC	0.488000													38	159					0	0	0.004878	0	0
ATM	472	broad.mit.edu	37	11	108160459	108160459	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:108160459G>A	ENST00000278616.4	+	29	4752	c.4367G>A	c.(4366-4368)gGc>gAc	p.G1456D	ATM_ENST00000452508.2_Missense_Mutation_p.G1456D	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1456					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.G1456D(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATAAAAAGTGGCTTAGGAGGA	0.313000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			16	62					0	0	0.004007	0	0
TPR	7175	broad.mit.edu	37	1	186324879	186324879	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:186324879G>A	ENST00000367478.4	-	16	2206	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.S637F(1)|p.S638F(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGATGCAAGAGAAACATCATC	0.383000			T	NTRK1	papillary thyroid								29	102					0	0	0.007291	0	0
PROM2	150696	broad.mit.edu	37	2	95941808	95941808	+	Missense_Mutation	SNP	C	C	A	rs147971761		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:95941808C>A	ENST00000317620.9	+	3	558	c.425C>A	c.(424-426)aCa>aAa	p.T142K	PROM2_ENST00000403131.2_Missense_Mutation_p.T142K|PROM2_ENST00000317668.4_Missense_Mutation_p.T142K|PROM2_ENST00000463580.1_Intron|PROM2_ENST00000542147.1_Missense_Mutation_p.T142K	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	142						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.T142K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CGAGTGAAGACAGAGCACAAG	0.687000													9	39					0.000442599	0.000449298	0.006214	1	0
MCOLN1	57192	broad.mit.edu	37	19	7591755	7591755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:7591755C>T	ENST00000264079.6	+	4	639	c.514C>T	c.(514-516)Cga>Tga	p.R172*		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	172				ALCQRYYHRGHVDPANDTFDIDPMVVTD -> LSASGTTTE ATWTRPTTHLTLIRWWLLVN (in Ref. 3; AAG42242).	calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	p.R172*(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTACTACCACCGAGGCCACGT	0.607000													24	99					0	0	0.005443	0	0
ZNF408	79797	broad.mit.edu	37	11	46727044	46727044	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:46727044C>G	ENST00000311764.2	+	5	2024	c.1794C>G	c.(1792-1794)ctC>ctG	p.L598L		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	p.L598L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCGCCACCTCAAATCTCACT	0.667000													18	50					0	0	0.004990	0	0
GGN	199720	broad.mit.edu	37	19	38877342	38877342	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:38877342C>T	ENST00000334928.6	-	3	692	c.560G>A	c.(559-561)aGa>aAa	p.R187K	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	187	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.R187K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGAGTGATTCTGCGGTCCGC	0.692000													4	7					0	0	0.000602	0	0
PNMA1	9240	broad.mit.edu	37	14	74180243	74180243	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:74180243C>T	ENST00000316836.3	-	1	885	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	34					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	p.E34K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tcttcgatttcagcctcatca	0.532000													57	171					0	0	0.014410	0	0
FOSL2	2355	broad.mit.edu	37	2	28616622	28616622	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:28616622C>G	ENST00000264716.4	+	1	898	c.35C>G	c.(34-36)tCg>tGg	p.S12W	FOSL2_ENST00000379619.1_Intron|FOSL2_ENST00000460736.1_Intron|AC104695.3_ENST00000427929.1_RNA|AC104695.3_ENST00000445878.1_RNA	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	12					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S12W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TTTGACACCTCGTCCCGGGGC	0.716000													7	9					0	0	0.003080	0	0
MECOM	2122	broad.mit.edu	37	3	168807915	168807915	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:168807915C>T	ENST00000464456.1	-	13	3883	c.2683G>A	c.(2683-2685)Gaa>Aaa	p.E895K	MECOM_ENST00000392736.3_Missense_Mutation_p.E904K|MECOM_ENST00000433243.2_Missense_Mutation_p.E905K|MECOM_ENST00000264674.3_Missense_Mutation_p.E969K|MECOM_ENST00000472280.1_Missense_Mutation_p.E905K|MECOM_ENST00000468789.1_Missense_Mutation_p.E904K|MECOM_ENST00000494292.1_Missense_Mutation_p.E1083K|MECOM_ENST00000460814.1_Missense_Mutation_p.E895K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.E904K(1)|p.E904I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCATTGTCTTCATCCTCCTCA	0.398000													162	227					0	0	0.014410	0	0
PA2G4	5036	broad.mit.edu	37	12	56505295	56505295	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:56505295G>C	ENST00000303305.6	+	12	1520	c.1101G>C	c.(1099-1101)caG>caC	p.Q367H	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	367	Interaction with RNA (By similarity).|Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	p.Q367H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAAAAACCCAGAAAAAGAAAA	0.393000													33	142					0	0	0.003755	0	0
ATG4D	84971	broad.mit.edu	37	19	10657634	10657634	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:10657634G>A	ENST00000309469.4	+	4	786	c.613G>A	c.(613-615)Gag>Aag	p.E205K	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	205					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	p.E205K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGGTGCCCCTGAGCTGGAGCA	0.716000													9	15					0	0	0.004482	0	0
YARS	8565	broad.mit.edu	37	1	33245110	33245110	+	Missense_Mutation	SNP	C	C	T	rs147005844	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:33245110C>T	ENST00000373477.4	-	12	2257	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	450	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	p.R450H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCAACCTGGCGGTTTATCCC	0.557000													34	83					0	0	0.013726	0	0
RNASE10	338879	broad.mit.edu	37	14	20978929	20978929	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:20978929C>G	ENST00000430083.1	+	2	787	c.383C>G	c.(382-384)tCa>tGa	p.S128*	RNASE10_ENST00000328444.5_Nonsense_Mutation_p.S100*			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	100						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.S100*(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CTCAGAGCCTCAGCTCTCTTT	0.493000													11	35					0	0	0.008291	0	0
SPTAN1	6709	broad.mit.edu	37	9	131395126	131395126	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:131395126G>A	ENST00000358161.5	+	55	7313	c.7200G>A	c.(7198-7200)atG>atA	p.M2400I	SPTAN1_ENST00000372739.3_Missense_Mutation_p.M2400I|SPTAN1_ENST00000372731.4_Missense_Mutation_p.M2395I			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2395	EF-hand 2.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.M2395I(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGGCTTTCATGATCAGCCGCG	0.602000													32	178					0	0	0.003271	0	0
CBLB	868	broad.mit.edu	37	3	105438984	105438984	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:105438984G>A	ENST00000264122.4	-	10	1635	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	CBLB_ENST00000403724.1_Silent_p.I438I|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.I438I|CBLB_ENST00000394027.3_Silent_p.I460I	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	438					cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	p.I438I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGGGGTCAATGATGCTGCAAC	0.498000			Mis S		AML								16	87					0	0	0.004007	0	0
RBM17	84991	broad.mit.edu	37	10	6143281	6143281	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:6143281G>A	ENST00000446108.1	+	3	815	c.171G>A	c.(169-171)ctG>ctA	p.L57L	RBM17_ENST00000379888.4_Silent_p.L57L	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	57					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.L57L(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TCATTGACCTGAAGCGAGGTG	0.483000													9	49					0	0	0.004482	0	0
GPC5	2262	broad.mit.edu	37	13	92560198	92560198	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:92560198C>T	ENST00000377067.3	+	6	1660	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	430						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Q430*(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TAGTTATACTCAGCGTGTGGT	0.383000													20	74					0	0	0.002780	0	0
PSEN1	5663	broad.mit.edu	37	14	73614734	73614734	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:73614734G>A	ENST00000324501.5	+	3	279	c.7G>A	c.(7-9)Gag>Aag	p.E3K	PSEN1_ENST00000261970.3_Missense_Mutation_p.E3K|PSEN1_ENST00000394157.3_Missense_Mutation_p.E3K|PSEN1_ENST00000357710.4_Missense_Mutation_p.E3K|PSEN1_ENST00000344094.3_Missense_Mutation_p.E3K|PSEN1_ENST00000553447.2_3'UTR|PSEN1_ENST00000557511.1_Missense_Mutation_p.E3K|PSEN1_ENST00000394164.1_Missense_Mutation_p.E3K	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	3					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	p.E3K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TCCAATGACAGAGTTACCTGC	0.428000													11	38					0	0	0.003163	0	0
BSPRY	54836	broad.mit.edu	37	9	116131969	116131969	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:116131969G>A	ENST00000374183.4	+	6	795	c.756G>A	c.(754-756)ctG>ctA	p.L252L	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	252	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding	p.L252L(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GAAAGACCCTGACCTTCAGCA	0.567000													30	93					0	0	0.009535	0	0
PPL	5493	broad.mit.edu	37	16	4933745	4933745	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:4933745C>T	ENST00000345988.2	-	22	5000	c.4911G>A	c.(4909-4911)caG>caA	p.Q1637Q	PPL_ENST00000590782.2_Silent_p.Q1635Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1637					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.Q1637Q(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCAGGCGCTTCTGCAGCTCGT	0.632000													16	53					0	0	0.007413	0	0
DNAH8	1769	broad.mit.edu	37	6	38834581	38834581	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:38834581C>G	ENST00000359357.3	+	45	6225	c.5971C>G	c.(5971-5973)Ctt>Gtt	p.L1991V	DNAH8_ENST00000449981.2_Missense_Mutation_p.L2208V|DNAH8_ENST00000441566.1_Intron					dynein, axonemal, heavy chain 8									p.L1991V(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGTGGTTTTCTTGAAAATGT	0.308000													7	62					0	0	0.003080	0	0
UQCRC1	7384	broad.mit.edu	37	3	48641043	48641043	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:48641043G>A	ENST00000203407.5	-	6	1076	c.660C>T	c.(658-660)ctC>ctT	p.L220L		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	220					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	p.L220L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	AATGTGTGCTGAGGTACTCGG	0.532000													8	45					0	0	0.003080	0	0
CREB3	10488	broad.mit.edu	37	9	35736618	35736618	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:35736618C>G	ENST00000353704.2	+	9	1449	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	361					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	p.L337L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CAGAGCCTCTCTGCCGAGGTC	0.587000											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	267					0	0	0.014410	0	0
TNKS2	80351	broad.mit.edu	37	10	93572839	93572839	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:93572839C>G	ENST00000371627.4	+	2	678	c.299C>G	c.(298-300)tCt>tGt	p.S100C		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	100					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.S100C(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AATGCATGCTCTTTTGGTCAT	0.443000													26	116					0	0	0.003954	0	0
DNAH9	1770	broad.mit.edu	37	17	11865486	11865486	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:11865486G>C	ENST00000262442.4	+	68	13214	c.13146G>C	c.(13144-13146)aaG>aaC	p.K4382N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K4306N|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.K694N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K4382N(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATGACGAAGAAGAACAGAG	0.547000													21	82					0	0	0.010504	0	0
USP9X	8239	broad.mit.edu	37	X	41077663	41077663	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:41077663A>T	ENST00000324545.8	+	37	6881	c.6248A>T	c.(6247-6249)aAt>aTt	p.N2083I	USP9X_ENST00000378308.2_Missense_Mutation_p.N2083I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.N2083I(1)|p.N2076I(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CACAGCAAGAATGTACGTTTT	0.373000													59	196					0	0	0.014410	0	0
PLCH1	23007	broad.mit.edu	37	3	155199659	155199659	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:155199659G>C	ENST00000460012.1	-	23	4423	c.4066C>G	c.(4066-4068)Cag>Gag	p.Q1356E	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.Q1394E|PLCH1_ENST00000414191.1_Missense_Mutation_p.Q1356E|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.Q1356E			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1394					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Q1394E(1)|p.Q1356E(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACCACACCCTGATTGTACTTG	0.403000													32	183					0	0	0.013726	0	0
GANC	2595	broad.mit.edu	37	15	42568597	42568597	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:42568597C>T	ENST00000318010.8	+	2	321	c.81C>T	c.(79-81)atC>atT	p.I27I	GANC_ENST00000566442.1_Silent_p.I27I|GANC_ENST00000440615.2_Silent_p.I27I	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	27					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	p.I27I(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GTAACAAGATCGCATTTTACA	0.294000													3	31					0	0	0.004672	0	0
COL4A4	1286	broad.mit.edu	37	2	227886844	227886844	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:227886844G>T	ENST00000396625.3	-	44	4343	c.4136C>A	c.(4135-4137)cCa>cAa	p.P1379Q	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1376Q	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1379	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.P1379Q(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGAAGGCCTGGGATTCGGGG	0.582000													76	297					9.61239e-26	1.00625e-25	0.014410	1	0
ZNF620	253639	broad.mit.edu	37	3	40557421	40557421	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:40557421C>G	ENST00000314529.6	+	5	485	c.336C>G	c.(334-336)ttC>ttG	p.F112L	ZNF620_ENST00000418905.1_5'UTR	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F112L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGAGTCCTTCAGACTGATGG	0.463000													16	52					0	0	0.003163	0	0
PLXNB3	5365	broad.mit.edu	37	X	153040417	153040417	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:153040417G>A	ENST00000538282.1	+	20	2951	c.2917G>A	c.(2917-2919)Gcg>Acg	p.A973T	PLXNB3_ENST00000538776.1_Silent_p.E991E|PLXNB3_ENST00000361971.5_Silent_p.E1338E|PLXNB3_ENST00000538966.1_Silent_p.E1361E			Q9ULL4	PLXB3_HUMAN	plexin B3	0	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	p.E1338E(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTACGCCGAGCGCGCCTTCT	0.706000													24	86					0	0	0.004656	0	0
VPS13D	55187	broad.mit.edu	37	1	12333134	12333134	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:12333134C>G	ENST00000358136.3	+	18	2308	c.2178C>G	c.(2176-2178)ttC>ttG	p.F726L	VPS13D_ENST00000356315.4_Missense_Mutation_p.F726L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	726					protein localization			p.F726L(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTTCAAATTCAAGAATCCTG	0.423000													19	88					0	0	0.008871	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892354	2892354	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:2892354G>A	ENST00000254528.3	+	4	2388	c.2229G>A	c.(2227-2229)caG>caA	p.Q743Q		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	743					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.Q743Q(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GTGTCAGGCAGATGAACGGAA	0.493000													20	61					0	0	0.008871	0	0
ADCY2	108	broad.mit.edu	37	5	7816985	7816985	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:7816985G>A	ENST00000338316.4	+	23	2979	c.2890G>A	c.(2890-2892)Gag>Aag	p.E964K	ADCY2_ENST00000537121.1_Missense_Mutation_p.E784K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	964					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.E964K(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCAGGAGCCCGAGCGGCAGTA	0.502000											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	89					0	0	0.014323	0	0
TRMT11	60487	broad.mit.edu	37	6	126320719	126320719	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:126320719G>A	ENST00000334379.5	+	7	760	c.639G>A	c.(637-639)gtG>gtA	p.V213V	TRMT11_ENST00000368332.3_Silent_p.V213V|TRMT11_ENST00000450358.1_Silent_p.V213V	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	213					tRNA processing		methyltransferase activity|nucleic acid binding	p.V213V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ATGGAAAAGTGAAAGAAAATG	0.313000													26	81					0	0	0.003330	0	0
ASCC2	84164	broad.mit.edu	37	22	30188508	30188508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:30188508G>A	ENST00000397771.2	-	19	2113	c.1936C>T	c.(1936-1938)Cag>Tag	p.Q646*	ASCC2_ENST00000307790.3_Nonsense_Mutation_p.Q646*|ASCC2_ENST00000542393.1_Nonsense_Mutation_p.Q570*			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent			p.Q646*(1)		endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTCAGCACCTGAGGGATGGTG	0.562000													39	484					0	0	0.009718	0	0
DIP2C	22982	broad.mit.edu	37	10	395346	395346	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:395346C>G	ENST00000280886.6	-	25	3121	c.3034G>C	c.(3034-3036)Gag>Cag	p.E1012Q		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1012						nucleus	catalytic activity|transcription factor binding	p.E1012Q(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCGATCTTCTCAGCTCTCTTG	0.622000													22	83					0	0	0.012319	0	0
SEL1L2	80343	broad.mit.edu	37	20	13850838	13850838	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:13850838G>C	ENST00000284951.5	-	13	1190	c.1116C>G	c.(1114-1116)atC>atG	p.I372M	SEL1L2_ENST00000378072.5_Missense_Mutation_p.I372M|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	372						integral to membrane	binding	p.I372M(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CATGAAGGCCGATTGCATTGC	0.333000													26	85					0	0	0.005443	0	0
MALAT1	378938	broad.mit.edu	37	11	65269080	65269080	+	RNA	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65269080G>A	ENST00000534336.1	+	0	3848					NR_002819.2																						TAGTACTATTGACAAACTGGG	0.433000													29	74					0	0	0.003271	0	0
CDK12	51755	broad.mit.edu	37	17	37618767	37618767	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:37618767C>T	ENST00000447079.4	+	1	476	c.443C>T	c.(442-444)tCg>tTg	p.S148L	CDK12_ENST00000430627.2_Missense_Mutation_p.S148L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	148					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.S148L(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GACCGGATATCGGGAAGTTCA	0.502000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			21	77					0	0	0.008871	0	0
FAM89B	23625	broad.mit.edu	37	11	65340999	65340999	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65340999G>A	ENST00000316409.2	+	2	739	c.418G>A	c.(418-420)Gac>Aac	p.D140N	FAM89B_ENST00000449319.2_3'UTR|FAM89B_ENST00000530349.1_Missense_Mutation_p.D153N	NM_001098784.1|NM_001098785.1|NM_152832.2	NP_001092254.1|NP_001092255.1|NP_690045.1	Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	140								p.D140N(1)		large_intestine(1)|urinary_tract(2)	3						CCTGTCTGACGACGAGGAGCC	0.632000													18	49					0	0	0.012319	0	0
ATG2B	55102	broad.mit.edu	37	14	96807895	96807895	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:96807895G>A	ENST00000359933.4	-	6	1781	c.888C>T	c.(886-888)ctC>ctT	p.L296L		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	296								p.L296L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GTTTCAACGTGAGACTCAACT	0.393000													25	94					0	0	0.008361	0	0
SLC30A5	64924	broad.mit.edu	37	5	68412387	68412387	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:68412387G>A	ENST00000396591.3	+	10	1849	c.1239G>A	c.(1237-1239)gaG>gaA	p.E413E	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	413					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	p.E413E(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCTTGAGGAGAGTGACTCTA	0.328000													10	68					0	0	0.008291	0	0
HPGDS	27306	broad.mit.edu	37	4	95223298	95223298	+	Splice_Site	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:95223298G>A	ENST00000295256.5	-	5	524	c.434C>T	c.(433-435)tCt>tTt	p.S145F		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	145	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	p.S145F(1)		breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	CATACTCACAGAGTTACCAAT	0.363000													76	195					0	0	0.014410	0	0
MIR205HG	642587	broad.mit.edu	37	1	209605571	209605571	+	RNA	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:209605571G>C	ENST00000384891.1	+	0	94					NR_029622.1																						TGAAGTTCAGGAGGCATGGAG	0.577000													6	32					0	0	0.001168	0	0
FER1L6	654463	broad.mit.edu	37	8	125052230	125052230	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:125052230C>T	ENST00000522917.1	+	20	2778	c.2572C>T	c.(2572-2574)Cac>Tac	p.H858Y	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.H858Y|RP11-959I15.4_ENST00000522005.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	858	C2 3.					integral to membrane		p.H858Y(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTTCCTTTCTCACTGCCAGAC	0.522000													24	127					0	0	0.004656	0	0
HECTD1	25831	broad.mit.edu	37	14	31574848	31574848	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:31574848G>C	ENST00000399332.1	-	39	7741	c.7253C>G	c.(7252-7254)tCa>tGa	p.S2418*	HECTD1_ENST00000553700.1_Nonsense_Mutation_p.S2418*	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2418	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.S2418*(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATATATTCTTGAGGAAGGGCA	0.328000													35	83					0	0	0.003271	0	0
SLC4A10	57282	broad.mit.edu	37	2	162833271	162833271	+	Splice_Site	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:162833271G>C	ENST00000375514.5	+	25	3459	c.3172G>C	c.(3172-3174)Gat>Cat	p.D1058H	SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000446997.1_Splice_Site_p.D1077H|SLC4A10_ENST00000415876.2_Splice_Site_p.D1047H|SLC4A10_ENST00000272716.5_Splice_Site_p.D1047H	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1077				SM -> CV (in Ref. 1; BAB18301).	bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.D1077H(1)|p.D1047H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTGTCTAGAGATGATCCATC	0.348000													2	8					0	0	0.004672	0	0
KIF1C	10749	broad.mit.edu	37	17	4905849	4905849	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4905849C>T	ENST00000320785.5	+	7	877	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	174	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	p.L174L(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GCACCCCATCCTGGGCCCGTA	0.577000													46	174					0	0	0.013114	0	0
TRUB1	142940	broad.mit.edu	37	10	116702491	116702491	+	Missense_Mutation	SNP	G	G	A	rs143607039		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:116702491G>A	ENST00000298746.3	+	2	435	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	125					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.R125Q(3)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		AGCGCAGCCCGAGGAGTTCTG	0.438000													13	52					0	0	0.003163	0	0
ANKHD1	54882	broad.mit.edu	37	5	139905979	139905979	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:139905979C>G	ENST00000297183.6	+	26	5015	c.4891C>G	c.(4891-4893)Cat>Gat	p.H1631D	ANKHD1_ENST00000544120.1_Missense_Mutation_p.H14D|ANKHD1_ENST00000360839.2_Missense_Mutation_p.H1631D|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.H1631D	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1									p.H1631D(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCTCCTTCATTCCCAAGA	0.418000													35	96					0	0	0.003755	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								34	71					0	0	0.003271	0	0
TP53I3	9540	broad.mit.edu	37	2	24300523	24300523	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:24300523C>T	ENST00000238721.4	-	5	1779	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000313482.4_Missense_Mutation_p.R243Q|TP53I3_ENST00000407482.1_Missense_Mutation_p.R243Q|TP53I3_ENST00000335934.4_Missense_Mutation_p.E309K	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	309					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	p.E309K(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGGATTTCGGTCACTGGG	0.562000													61	90					0	0	0.014410	0	0
PIK3CB	5291	broad.mit.edu	37	3	138374308	138374308	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138374308C>T	ENST00000477593.1	-	23	3209	c.3136G>A	c.(3136-3138)Gat>Aat	p.D1046N	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1046N|PIK3CB_ENST00000544716.1_Missense_Mutation_p.D497N			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1046	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D1046N(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGCGCCTCATCAAATTTTTGC	0.408000													56	118					0	0	0.014410	0	0
FGF8	2253	broad.mit.edu	37	10	103531253	103531253	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:103531253G>C	ENST00000347978.2	-	4	493	c.324C>G	c.(322-324)atC>atG	p.I108M	FGF8_ENST00000320185.2_Missense_Mutation_p.I137M|FGF8_ENST00000344255.3_Missense_Mutation_p.I126M|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Missense_Mutation_p.I97M	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	126					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	p.I137M(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TGTTCATGCAGATGTAGAGGC	0.607000													15	69					0	0	0.004990	0	0
NCAM2	4685	broad.mit.edu	37	21	22910264	22910264	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:22910264G>C	ENST00000400546.1	+	18	2749	c.2500G>C	c.(2500-2502)Gac>Cac	p.D834H	NCAM2_ENST00000284894.7_Missense_Mutation_p.D692H	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	834					neuron cell-cell adhesion	integral to membrane|plasma membrane		p.D834H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAAAGAAGACGACAGCAAAGC	0.358000													10	64					0	0	0.006214	0	0
ACOT6	641372	broad.mit.edu	37	14	74086448	74086448	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:74086448C>T	ENST00000381139.1	+	2	860	c.529C>T	c.(529-531)Cac>Tac	p.H177Y	RP3-414A15.10_ENST00000555500.1_RNA|RP3-414A15.10_ENST00000555011.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	177						cytosol	carboxylesterase activity	p.H177Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GCCAAAGGCTCACTCAAAGGC	0.423000													13	71					0	0	0.013537	0	0
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716000													23	27					0	0	0.004656	0	0
ABI2	10152	broad.mit.edu	37	2	204291976	204291976	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:204291976C>G	ENST00000295851.5	+	11	1739	c.1443C>G	c.(1441-1443)atC>atG	p.I481M	ABI2_ENST00000422511.2_Missense_Mutation_p.I448M|ABI2_ENST00000430418.1_Missense_Mutation_p.I426M|ABI2_ENST00000261018.7_Missense_Mutation_p.I267M|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000261017.5_Missense_Mutation_p.I443M|ABI2_ENST00000424558.1_Missense_Mutation_p.I475M|ABI2_ENST00000261016.6_Missense_Mutation_p.I369M	NM_001282925.1|NM_001282926.1	NP_001269854.1|NP_001269855.1	Q9NYB9	ABI2_HUMAN	abl-interactor 2		SH3.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	p.I443M(1)		breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TTTATGTCATCAAGAAGAATG	0.393000													18	65					0	0	0.010504	0	0
PIK3CB	5291	broad.mit.edu	37	3	138374305	138374305	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138374305C>T	ENST00000477593.1	-	23	3212	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K	PIK3CB_ENST00000289153.2_Missense_Mutation_p.E1047K|PIK3CB_ENST00000544716.1_Missense_Mutation_p.E498K			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1047	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E1047K(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTGAGCGCCTCATCAAATTTT	0.408000													56	117					0	0	0.014410	0	0
FAT4	79633	broad.mit.edu	37	4	126241888	126241888	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:126241888C>T	ENST00000394329.3	+	1	4335	c.4322C>T	c.(4321-4323)tCa>tTa	p.S1441L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1441	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S1441L(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTGTCATTTCAGTGACTGCA	0.418000													38	149					0	0	0.009718	0	0
ANKHD1	54882	broad.mit.edu	37	5	139905956	139905956	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:139905956C>G	ENST00000297183.6	+	26	4992	c.4868C>G	c.(4867-4869)tCt>tGt	p.S1623C	ANKHD1_ENST00000544120.1_Missense_Mutation_p.S6C|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S1623C|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S1623C	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1									p.S1623C(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATTCCTCTAAATACCCC	0.393000													33	104					0	0	0.010818	0	0
ERBB2	2064	broad.mit.edu	37	17	37884259	37884259	+	Missense_Mutation	SNP	G	G	C	rs144533600	by1000genomes	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:37884259G>C	ENST00000406381.2	+	29	4150	c.3640G>C	c.(3640-3642)Gag>Cag	p.E1214Q	ERBB2_ENST00000269571.5_Missense_Mutation_p.E1244Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.E1214Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.E968Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.E1214Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.E1229Q|ERBB2_ENST00000584450.1_3'UTR	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1244					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E1244Q(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACCTACGGCAGAGAACCCAGA	0.607000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			22	66					0	0	0.003954	0	0
CLCF1	23529	broad.mit.edu	37	11	67133035	67133035	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67133035G>C	ENST00000312438.7	-	3	447	c.250C>G	c.(250-252)Ctg>Gtg	p.L84V	AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000533438.1_Missense_Mutation_p.L74V|CLCF1_ENST00000528474.1_Missense_Mutation_p.L74V	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	84					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.L84V(1)		endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			GCCCTGGGCAGAGTCTCTGCC	0.587000													33	112					0	0	0.013726	0	0
LYPD5	284348	broad.mit.edu	37	19	44301925	44301925	+	Missense_Mutation	SNP	C	C	T	rs114185213	by1000genomes	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:44301925C>T	ENST00000377950.3	-	5	654	c.574G>A	c.(574-576)Gag>Aag	p.E192K	LYPD5_ENST00000414615.2_Missense_Mutation_p.E149K|LYPD5_ENST00000594013.1_Missense_Mutation_p.E149K	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	192	UPAR/Ly6.					anchored to membrane|plasma membrane		p.E192K(1)|p.E149K(1)		breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				GTGGTGCCCTCGGTGGTGCAG	0.612000													11	57					0	0	0.008291	0	0
F8	2157	broad.mit.edu	37	X	154157864	154157864	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:154157864G>C	ENST00000360256.4	-	14	4401	c.4201C>G	c.(4201-4203)Caa>Gaa	p.Q1401E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1401	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.Q1401E(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTATTTGCTTGAGGGATGCTA	0.443000													50	229					0	0	0.014410	0	0
CHD1	1105	broad.mit.edu	37	5	98207807	98207807	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:98207807T>C	ENST00000284049.3	-	27	3958	c.3809A>G	c.(3808-3810)tAt>tGt	p.Y1270C		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1270					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.Y1270C(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCAGCTTCCATATCCATATTC	0.353000													34	144					0	0	0.012213	0	0
WDR64	128025	broad.mit.edu	37	1	241964444	241964444	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:241964444G>C	ENST00000366552.2	+	27	3380	c.3173G>C	c.(3172-3174)aGa>aCa	p.R1058T	WDR64_ENST00000437684.2_Missense_Mutation_p.R891T	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1058								p.R1058T(1)|p.R611T(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GCACCACGAAGAAGAAGTTTG	0.378000													22	70					0	0	0.012319	0	0
SPRYD3	84926	broad.mit.edu	37	12	53460151	53460151	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:53460151C>G	ENST00000301463.4	-	10	1227	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E418Q	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	381	Glu-rich.							p.E381Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						tcctcttcctcttcctcttcc	0.587000											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	73					0	0	0.003330	0	0
PDCD10	11235	broad.mit.edu	37	3	167414911	167414911	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:167414911C>G	ENST00000392750.2	-	5	571	c.154G>C	c.(154-156)Gaa>Caa	p.E52Q	PDCD10_ENST00000470131.1_Missense_Mutation_p.E52Q|PDCD10_ENST00000461494.1_Missense_Mutation_p.E52Q|PDCD10_ENST00000497056.2_Missense_Mutation_p.E52Q|PDCD10_ENST00000473645.2_Missense_Mutation_p.E52Q|PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000487947.2_Missense_Mutation_p.E52Q|PDCD10_ENST00000471885.1_Missense_Mutation_p.E52Q	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	52					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	p.E52Q(1)		central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TTTTCTTTTTCAGCCTATAAT	0.343000													18	89					0	0	0.006122	0	0
ROCK1	6093	broad.mit.edu	37	18	18549123	18549123	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:18549123C>G	ENST00000399799.2	-	24	3807	c.2867G>C	c.(2866-2868)aGa>aCa	p.R956T		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.R956T(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATTCTCTCTTCTTAATATTTC	0.323000													19	49					0	0	0.008871	0	0
ZNF17	7565	broad.mit.edu	37	19	57932476	57932476	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:57932476C>G	ENST00000307658.7	+	4	1885	c.1622C>G	c.(1621-1623)tCa>tGa	p.S541*	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Nonsense_Mutation_p.S539*			P17021	ZNF17_HUMAN	zinc finger protein 17	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S539*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGGCACAACTCAAATCATATT	0.423000													26	96					0	0	0.003330	0	0
SLC9A8	23315	broad.mit.edu	37	20	48497480	48497480	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:48497480G>C	ENST00000417961.1	+	13	1436	c.1226G>C	c.(1225-1227)aGa>aCa	p.R409T	SLC9A8_ENST00000541138.1_Missense_Mutation_p.R93T|SLC9A8_ENST00000539601.1_Missense_Mutation_p.R174T|SLC9A8_ENST00000361573.2_Missense_Mutation_p.R393T	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	393						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	p.R393T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CTATTTGGCAGAGCGGTAAAC	0.413000													33	127					0	0	0.012213	0	0
ABCA8	10351	broad.mit.edu	37	17	66914280	66914280	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:66914280C>G	ENST00000269080.2	-	14	1972	c.1835G>C	c.(1834-1836)aGa>aCa	p.R612T	ABCA8_ENST00000430352.2_Missense_Mutation_p.R652T|ABCA8_ENST00000586539.1_Missense_Mutation_p.R652T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	612	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R612T(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TACTTGGTGTCTTGAAAAGGG	0.458000													16	71					0	0	0.004007	0	0
ITGB1	3688	broad.mit.edu	37	10	33224454	33224454	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:33224454C>T	ENST00000396033.2	-	2	168	c.33G>A	c.(31-33)ctG>ctA	p.L11L	ITGB1_ENST00000374956.4_Silent_p.L11L|ITGB1_ENST00000302278.3_Silent_p.L11L|ITGB1_ENST00000423113.1_Silent_p.L11L|ITGB1_ENST00000484088.1_5'UTR	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	11					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	p.L11L(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CTGAACTGATCAGTCCAATCC	0.294000													10	60					0	0	0.013537	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039257	242039257	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:242039257T>C	ENST00000391980.2	-	2	132	c.74A>G	c.(73-75)cAg>cGg	p.Q25R	MTERFD2_ENST00000495694.1_Missense_Mutation_p.Q25R|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.Q25R|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	25								p.Q25R(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		ATGAGGAGTCTGCCTAGCCAT	0.498000													12	26					0	0	0.001855	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379760	204379760	+	Silent	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:204379760C>A	ENST00000367188.4	-	1	1159	c.780G>T	c.(778-780)ctG>ctT	p.L260L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	260					regulation of translation			p.L260L(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GGTCCTCTCTCAGGCAGCTGC	0.542000													35	138					6.03168e-27	6.32115e-27	0.004878	1	0
SLC29A3	55315	broad.mit.edu	37	10	73122191	73122191	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:73122191C>T	ENST00000373189.5	+	6	1306	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	418					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	p.L418L(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCGCACTCCTCAGCTCCCTGC	0.642000													35	111					0	0	0.006230	0	0
ZNF655	79027	broad.mit.edu	37	7	99170385	99170385	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:99170385G>A	ENST00000424881.1	+	4	979	c.759G>A	c.(757-759)ggG>ggA	p.G253G	ZNF655_ENST00000493277.1_Silent_p.G253G|ZNF655_ENST00000252713.4_Silent_p.G218G|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Silent_p.G218G	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	218					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.G218G(1)|p.G253G(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATGTATGTGGGAAAATTTTCC	0.388000													16	46					0	0	0.003163	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45514050	45514050	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:45514050C>G	ENST00000291574.4	+	20	3279	c.3104C>G	c.(3103-3105)tCt>tGt	p.S1035C	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1035					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.S1035C(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						TCCCCAGCTTCTGAGGAACAG	0.448000													40	181					0	0	0.010771	0	0
PTGIS	5740	broad.mit.edu	37	20	48130897	48130897	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:48130897G>C	ENST00000244043.4	-	7	920	c.891C>G	c.(889-891)ctC>ctG	p.L297L	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	297					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	p.L297L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TGAGAAGGAAGAGCAGGAGCC	0.597000													14	54					0	0	0.004990	0	0
USP38	84640	broad.mit.edu	37	4	144107121	144107121	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:144107121G>A	ENST00000307017.4	+	1	1024	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	USP38_ENST00000510377.1_Missense_Mutation_p.R173Q	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	173					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R173Q(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CAGCTGGTTCGAACGATAGGC	0.537000													37	135					0	0	0.005524	0	0
SBNO2	22904	broad.mit.edu	37	19	1111584	1111584	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:1111584G>A	ENST00000361757.3	-	24	2967	c.2730C>T	c.(2728-2730)ctC>ctT	p.L910L	SBNO2_ENST00000438103.2_Silent_p.L853L|SBNO2_ENST00000587024.1_Silent_p.L900L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	910					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			p.L910L(1)|p.L917L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATGGTGGTGAGGACACAGT	0.662000													3	9					0	0	0.004672	0	0
FANCM	57697	broad.mit.edu	37	14	45658401	45658401	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:45658401C>G	ENST00000267430.5	+	20	5261	c.5176C>G	c.(5176-5178)Cca>Gca	p.P1726A	FANCM_ENST00000542564.2_Missense_Mutation_p.P1700A	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1726					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.P1726A(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGAGTTAATCCATTAGCAAA	0.408000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				72	222					0	0	0.014410	0	0
AZI2	64343	broad.mit.edu	37	3	28381983	28381983	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:28381983G>A	ENST00000479665.1	-	2	657	c.126C>T	c.(124-126)gtC>gtT	p.V42V	AZI2_ENST00000457172.1_Silent_p.V42V|AZI2_ENST00000420543.2_Silent_p.V42V|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Silent_p.V42V	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	42						mitochondrion|plasma membrane		p.V42V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						CATATGCAGTGACAAGAGCAA	0.333000													29	95					0	0	0.005443	0	0
SEMG2	6407	broad.mit.edu	37	20	43850728	43850728	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:43850728G>A	ENST00000372769.3	+	2	545	c.455G>A	c.(454-456)gGa>gAa	p.G152E		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	152	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.G152E(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AGCCCATCTGGAAAGGGATTA	0.408000													23	70					0	0	0.012319	0	0
LAMA5	3911	broad.mit.edu	37	20	60921260	60921260	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:60921260C>T	ENST00000252999.3	-	10	1360	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	LAMA5_ENST00000370677.3_Missense_Mutation_p.E432K|LAMA5_ENST00000370692.3_Missense_Mutation_p.E432K	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	432	Laminin EGF-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.E432K(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGTCGGACTCGCAGTTGCAG	0.647000													11	19					0	0	0.008291	0	0
LFNG	3955	broad.mit.edu	37	7	2565989	2565989	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:2565989C>G	ENST00000222725.5	+	6	953	c.933C>G	c.(931-933)ttC>ttG	p.F311L	LFNG_ENST00000402506.1_Missense_Mutation_p.F240L|LFNG_ENST00000359574.3_Missense_Mutation_p.F311L|LFNG_ENST00000402045.1_Missense_Mutation_p.F182L|LFNG_ENST00000338732.3_Missense_Mutation_p.F182L	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	311					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	p.F311L(1)|p.F240L(1)|p.F182L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GCGGCCTCTTCCACTCCCACC	0.657000													34	96					0	0	0.010818	0	0
HMCN1	83872	broad.mit.edu	37	1	185902803	185902803	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:185902803G>C	ENST00000271588.4	+	11	1904	c.1675G>C	c.(1675-1677)Gat>Cat	p.D559H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D559H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	559	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.D559H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAATGACAGAGATGTCAGACT	0.448000													24	54					0	0	0.014323	0	0
C11orf82	220042	broad.mit.edu	37	11	82643575	82643575	+	Missense_Mutation	SNP	G	G	C	rs149497860		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:82643575G>C	ENST00000533655.1	+	6	1407	c.1195G>C	c.(1195-1197)Gaa>Caa	p.E399Q	C11orf82_ENST00000329143.3_Missense_Mutation_p.E98Q|C11orf82_ENST00000430323.2_Missense_Mutation_p.E399Q|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	399					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.E399Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACTCAGACTTGAAGAGACAGC	0.468000													70	221					0	0	0.014410	0	0
PKHD1	5314	broad.mit.edu	37	6	51929769	51929769	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:51929769G>A	ENST00000371117.3	-	13	1235	c.960C>T	c.(958-960)ctC>ctT	p.L320L	PKHD1_ENST00000340994.4_Silent_p.L320L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	320	IPT/TIG 3.				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	p.L320L(2)		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)					GAGGGGTGGTGAGCCTCACAT	0.448000													27	112					0	0	0.006320	0	0
PRR12	57479	broad.mit.edu	37	19	50099726	50099726	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:50099726G>A	ENST00000418929.2	+	4	2146	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	435	Pro-rich.						DNA binding	p.E712K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CAGCCTGGATGAGGGTGCCAC	0.682000													7	12					0	0	0.001984	0	0
IDO2	169355	broad.mit.edu	37	8	39806667	39806667	+	Splice_Site	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:39806667G>C	ENST00000502986.2	+	2	264		c.e2-1		RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_Splice_Site	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2						tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TTTCCATGCAGATACTTCAAA	0.428000													4	16					0	0	0.000602	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362759	49362759	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:49362759G>C	ENST00000263265.6	-	7	1214	c.659C>G	c.(658-660)tCt>tGt	p.S220C	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.S220C|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	220	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding	p.S220C(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTGGAGTCCAGAGTGGAGGTC	0.632000													17	62					0	0	0.004990	0	0
TENM2	57451	broad.mit.edu	37	5	167553912	167553912	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:167553912G>A	ENST00000519204.1	+	11	2118	c.2000G>A	c.(1999-2001)cGa>cAa	p.R667Q	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.R556Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R788Q|TENM2_ENST00000518659.1_Missense_Mutation_p.R788Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R621Q					teneurin transmembrane protein 2									p.R788Q(1)|p.R621Q(1)|p.R667Q(1)									TGTGAATGCCGAGAGGGCTGG	0.532000													4	11					0	0	0.009096	0	0
GPR84	53831	broad.mit.edu	37	12	54756622	54756622	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:54756622G>A	ENST00000551809.1	-	1	1649	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Silent_p.L338L			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	338						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L338L(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CCAGAATGTTGAGCAGCAAGA	0.537000													59	168					0	0	0.014410	0	0
EPRS	2058	broad.mit.edu	37	1	220213549	220213549	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:220213549C>G	ENST00000366923.3	-	2	378	c.109G>C	c.(109-111)Gag>Cag	p.E37Q		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	37					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	p.E37Q(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AGAATATTCTCTTTCCCTTCT	0.318000													20	130					0	0	0.003330	0	0
ABHD12	26090	broad.mit.edu	37	20	25295601	25295601	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:25295601C>G	ENST00000339157.5	-	6	851	c.579G>C	c.(577-579)ctG>ctC	p.L193L	ABHD12_ENST00000376542.3_Silent_p.L193L	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	193						integral to membrane	acylglycerol lipase activity	p.L193L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						CAAGGGAACTCAGCACCTGTA	0.448000													22	91					0	0	0.014323	0	0
NOS1	4842	broad.mit.edu	37	12	117685219	117685219	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:117685219C>G	ENST00000317775.6	-	18	3442	c.2757G>C	c.(2755-2757)atG>atC	p.M919I	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.M953I	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	919	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.M919I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCCCTTCCCTCATCTTCAGGA	0.547000													25	97					0	0	0.003954	0	0
UCKL1	54963	broad.mit.edu	37	20	62577259	62577259	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:62577259C>T	ENST00000369908.5	-	4	735	c.436G>A	c.(436-438)Gac>Aac	p.D146N	UCKL1_ENST00000358711.3_Missense_Mutation_p.D161N|UCKL1_ENST00000354216.6_Missense_Mutation_p.D161N|UCKL1_ENST00000369892.3_Missense_Mutation_p.D161N|UCKL1_ENST00000492660.1_5'UTR	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	161					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	p.D161N(1)		endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGGTCGAAGTCAAAGGCATCT	0.562000													86	284					0	0	0.014410	0	0
TM6SF1	53346	broad.mit.edu	37	15	83776476	83776476	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:83776476C>G	ENST00000322019.9	+	1	318	c.44C>G	c.(43-45)tCg>tGg	p.S15W	TM6SF1_ENST00000379390.6_Missense_Mutation_p.S15W|TM6SF1_ENST00000565774.1_Missense_Mutation_p.S15W|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379386.4_Missense_Mutation_p.S15W			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	15						integral to membrane		p.S15W(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGTCCCTCTCGGCCATCCCG	0.736000													5	25					0	0	0.000602	0	0
ZMYM2	7750	broad.mit.edu	37	13	20567608	20567608	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:20567608G>C	ENST00000382869.3	+	3	647	c.396G>C	c.(394-396)gaG>gaC	p.E132D	ZMYM2_ENST00000382881.3_Missense_Mutation_p.E132D|ZMYM2_ENST00000382871.2_Missense_Mutation_p.E132D|ZMYM2_ENST00000382874.2_Missense_Mutation_p.E132D	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	p.E132D(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AAGGGCAAGAGAAAAATTCCT	0.383000													17	65					0	0	0.004007	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228411	140228411	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140228411G>A	ENST00000378122.3	+	1	1055	c.331G>A	c.(331-333)Gac>Aac	p.D111N	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D111N|PCDHA6_ENST00000529310.1_Intron	NM_014005.3	NP_054724.1												p.D111N(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGATCGTAGACAGGCCGCT	0.547000													12	205					0	0	0.003330	0	0
ARSE	415	broad.mit.edu	37	X	2876407	2876407	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:2876407G>A	ENST00000545496.1	-	4	459	c.168C>T	c.(166-168)agC>agT	p.S56S	ARSE_ENST00000540563.1_Intron|ARSE_ENST00000381134.3_Silent_p.S31S	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	31					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	p.S31S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGAAATGTCGCTGGAAGCTG	0.552000													20	58					0	0	0.012319	0	0
PPP1CA	5499	broad.mit.edu	37	11	67166578	67166578	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67166578C>T	ENST00000376745.4	-	5	728	c.580G>A	c.(580-582)Gat>Aat	p.D194N	PPP1CA_ENST00000358239.4_Missense_Mutation_p.D150N|PPP1CA_ENST00000312989.7_Missense_Mutation_p.D205N|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	194					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	p.D194N(1)|p.D205N(1)|p.D291N(1)		breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCAGGCACATCTGTGGGCCGC	0.622000													26	79					0	0	0.005443	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110463573	110463573	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:110463573G>A	ENST00000261739.4	+	8	994	c.828G>A	c.(826-828)gtG>gtA	p.V276V		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	276								p.V276V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						ATGTGAATGTGATCACCAAAA	0.398000													57	123					0	0	0.014410	0	0
PTK7	5754	broad.mit.edu	37	6	43114421	43114421	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:43114421C>T	ENST00000230419.4	+	17	2927	c.2706C>T	c.(2704-2706)ctC>ctT	p.L902L	PTK7_ENST00000345201.2_Silent_p.L862L|PTK7_ENST00000349241.2_Silent_p.L772L|PTK7_ENST00000481273.1_Silent_p.L910L|PTK7_ENST00000352931.2_Silent_p.L846L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	902	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L902L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CACAGCCCCTCAGCACCAAGC	0.557000													14	71					0	0	0.003163	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67172956	67172956	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67172956G>A	ENST00000312390.5	+	4	368	c.339G>A	c.(337-339)aaG>aaA	p.K113K	TBC1D10C_ENST00000526387.1_Silent_p.K113K|TBC1D10C_ENST00000542590.1_Silent_p.K113K	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	113	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.K113K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGTGCCAGAAGAACAGCCCTG	0.647000													17	53					0	0	0.006122	0	0
WNK1	65125	broad.mit.edu	37	12	936320	936320	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:936320G>A	ENST00000537687.1	+	3	1688	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	WNK1_ENST00000535572.1_Missense_Mutation_p.D349N|WNK1_ENST00000315939.6_Missense_Mutation_p.D349N|WNK1_ENST00000530271.2_Missense_Mutation_p.D349N|WNK1_ENST00000447667.2_Missense_Mutation_p.D349N	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	349	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.D349N(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CATTCACCGCGATCTTAAATG	0.463000													69	225					0	0	0.014410	0	0
CPT1C	126129	broad.mit.edu	37	19	50209292	50209292	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:50209292G>A	ENST00000392518.4	+	11	1463	c.1091G>A	c.(1090-1092)aGa>aAa	p.R364K	CPT1C_ENST00000354199.5_Missense_Mutation_p.R364K|CPT1C_ENST00000598293.1_Missense_Mutation_p.R364K|CPT1C_ENST00000323446.5_Missense_Mutation_p.R364K|CPT1C_ENST00000405931.2_Missense_Mutation_p.R353K	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	364					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.R364K(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CAGTTTCAGAGAATCCTGGAT	0.632000													22	69					0	0	0.012319	0	0
MYBPC1	4604	broad.mit.edu	37	12	102036345	102036345	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:102036345G>C	ENST00000549145.1	+	10	878	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	MYBPC1_ENST00000547509.1_Missense_Mutation_p.E233Q|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E234Q|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E247Q|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E228Q|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E148Q|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E247Q|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E235Q|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E272Q|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E247Q|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E247Q|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E247Q|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E272Q|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E221Q|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E247Q			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	247	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.E272Q(1)|p.E247Q(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CATGCGCAGAGAGGAGAAGAA	0.632000													4	9					0	0	0.000602	0	0
CCDC66	285331	broad.mit.edu	37	3	56647736	56647736	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:56647736G>A	ENST00000394672.3	+	11	1594	c.1524G>A	c.(1522-1524)caG>caA	p.Q508Q	CCDC66_ENST00000326595.7_Silent_p.Q474Q|CCDC66_ENST00000436465.2_Silent_p.Q508Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	508								p.Q391Q(1)|p.Q508Q(1)		breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AAGAGATGCAGAAACAGTATG	0.388000													27	84					0	0	0.006320	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31710892	31710892	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:31710892G>A	ENST00000493662.2	+	5	416	c.360G>A	c.(358-360)caG>caA	p.Q120Q	MSH5_ENST00000534153.4_Silent_p.Q120Q|MSH5_ENST00000375755.3_Silent_p.Q120Q|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375750.3_Silent_p.Q120Q|MSH5_ENST00000375742.3_Silent_p.Q120Q|MSH5_ENST00000375740.3_Silent_p.Q120Q|MSH5_ENST00000375703.3_Silent_p.Q120Q														p.Q120Q(2)									CAGCCTCCCAGGAGCACAGAG	0.488000													82	103					0	0	0.014410	0	0
AHNAK	79026	broad.mit.edu	37	11	62288785	62288785	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:62288785G>C	ENST00000378024.4	-	5	13378	c.13104C>G	c.(13102-13104)ctC>ctG	p.L4368L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4368					nervous system development	nucleus	protein binding	p.L4368L(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGACCCTTGAGTTTTGCAT	0.468000													55	202					0	0	0.014410	0	0
MTOR	2475	broad.mit.edu	37	1	11184592	11184592	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:11184592G>C	ENST00000361445.4	-	47	6701	c.6625C>G	c.(6625-6627)Ctg>Gtg	p.L2209V	MTOR_ENST00000376838.1_Missense_Mutation_p.L414V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2209	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.L2209V(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCATTGGCCAGAAGGGTGTTA	0.463000													15	72					0	0	0.002450	0	0
OGDH	4967	broad.mit.edu	37	7	44747299	44747299	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:44747299G>C	ENST00000222673.5	+	22	2957	c.2915G>C	c.(2914-2916)aGa>aCa	p.R972T	OGDH_ENST00000447398.1_Missense_Mutation_p.R983T|OGDH_ENST00000449767.1_Missense_Mutation_p.R968T|OGDH_ENST00000439616.2_Missense_Mutation_p.R822T|OGDH_ENST00000444676.1_Missense_Mutation_p.R987T|OGDH_ENST00000543843.1_Missense_Mutation_p.R923T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	972					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R972T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GTGAAGCCAAGACTTCGGACC	0.602000													23	90					0	0	0.012319	0	0
HCN4	10021	broad.mit.edu	37	15	73660074	73660074	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:73660074C>T	ENST00000261917.3	-	1	1531	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	180					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.E180K(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGGGCTGCTCGCAGGAGGCG	0.786000													5	12					0	0	0.000602	0	0
LILRB3	11025	broad.mit.edu	37	19	54724400	54724400	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:54724400G>A	ENST00000391750.1	-	7	1392	c.1256C>T	c.(1255-1257)tCa>tTa	p.S419L	LILRA6_ENST00000270464.5_Missense_Mutation_p.S419L|LILRB3_ENST00000424807.1_Missense_Mutation_p.S419L|LILRB3_ENST00000346401.6_Missense_Mutation_p.S419L|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000245620.9_Missense_Mutation_p.S419L|LILRB3_ENST00000407860.2_Missense_Mutation_p.S419L|LILRA6_ENST00000440558.2_Missense_Mutation_p.S419L|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000469273.1_5'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	419	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.S419L(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCCTCACCTGAGACCACGAG	0.667000													10	33					0	0	0.010729	0	0
ZER1	10444	broad.mit.edu	37	9	131517773	131517773	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:131517773G>A	ENST00000291900.2	-	2	478	c.72C>T	c.(70-72)acC>acT	p.T24T	ZER1_ENST00000494461.1_Intron	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	24					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	p.T24T(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GGTAGCCCAGGGTGCCATCCA	0.622000													28	105					0	0	0.006320	0	0
PIWIL4	143689	broad.mit.edu	37	11	94335120	94335120	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:94335120G>A	ENST00000299001.6	+	12	1751	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	514					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	p.G514R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGTTCCATGGGATTTAATGT	0.378000													28	119					0	0	0.006320	0	0
DDX23	9416	broad.mit.edu	37	12	49228219	49228219	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:49228219G>C	ENST00000308025.3	-	12	1523	c.1444C>G	c.(1444-1446)Caa>Gaa	p.Q482E		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	482	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.Q482E(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCAATCTGTTGAGCCAACTCA	0.547000													33	110					0	0	0.005524	0	0
CASZ1	54897	broad.mit.edu	37	1	10725233	10725233	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:10725233C>G	ENST00000377022.3	-	5	729	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.E138Q	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.E138Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTGGAGGGCTCCTCCGCGTGG	0.692000													11	57					0	0	0.001855	0	0
ZNF330	27309	broad.mit.edu	37	4	142152618	142152618	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:142152618G>C	ENST00000262990.4	+	8	777	c.549G>C	c.(547-549)caG>caC	p.Q183H	ZNF330_ENST00000421169.2_Missense_Mutation_p.Q123H	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	183						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	p.Q183H(1)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GGCTTGGTCAGCACTCATGTC	0.353000													43	119					0	0	0.011902	0	0
TIMM44	10469	broad.mit.edu	37	19	8000015	8000015	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:8000015C>G	ENST00000270538.3	-	4	596	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	110					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.E110Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CGCACGGTTTCTGACTCGATG	0.552000													8	17					0	0	0.003080	0	0
PRG2	5553	broad.mit.edu	37	11	57156683	57156683	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:57156683C>T	ENST00000311862.5	-	3	239	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.E161K|PRG2_ENST00000533605.1_Missense_Mutation_p.E56K|PRG2_ENST00000525955.1_Missense_Mutation_p.E56K	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)									p.E56K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCTCTTCCTCCAGCTCC	0.547000													27	82					0	0	0.003954	0	0
ATG4D	84971	broad.mit.edu	37	19	10663639	10663639	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:10663639G>T	ENST00000309469.4	+	10	1494	c.1321G>T	c.(1321-1323)Gac>Tac	p.D441Y	ATG4D_ENST00000540862.1_Missense_Mutation_p.D108Y	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	441					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	p.D441Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCACAGCCTGGACGACCTCTG	0.657000													34	96					1.43246e-33	1.50625e-33	0.007835	1	0
CUX1	1523	broad.mit.edu	37	7	101845024	101845024	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:101845024G>A	ENST00000360264.3	+	18	2500	c.2480G>A	c.(2479-2481)cGc>cAc	p.R827H	CUX1_ENST00000556210.1_Missense_Mutation_p.R658H|CUX1_ENST00000292535.7_Missense_Mutation_p.R816H|CUX1_ENST00000550008.2_Missense_Mutation_p.R760H|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R714H|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.R794H	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	816					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R816H(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGGTGGGCCGCAGCGGTGCC	0.672000													11	18					0	0	0.008291	0	0
ITLN2	142683	broad.mit.edu	37	1	160914989	160914989	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:160914989C>T	ENST00000368029.3	-	8	976	c.919G>A	c.(919-921)Gtt>Att	p.V307I	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	307					signal transduction	extracellular region	receptor binding|sugar binding	p.V307I(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGCTCTTAACGTGAGTTCCA	0.557000													18	65					0	0	0.007413	0	0
TPRG1	285386	broad.mit.edu	37	3	188925327	188925327	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:188925327C>G	ENST00000345063.3	+	2	321	c.154C>G	c.(154-156)Ctt>Gtt	p.L52V	TPRG1_ENST00000433971.1_Missense_Mutation_p.L52V	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	52								p.L52V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CGAATCAACTCTTTACCCCAA	0.438000													48	185					0	0	0.014410	0	0
PKD1	5310	broad.mit.edu	37	16	2159441	2159441	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:2159441G>A	ENST00000262304.4	-	15	5935	c.5727C>T	c.(5725-5727)atC>atT	p.I1909I	PKD1_ENST00000423118.1_Silent_p.I1909I	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1909	PKD 15.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.I1909I(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCCAGCAGGATCTGAAAAT	0.701000													6	23					0	0	0.004482	0	0
RPL26L1	51121	broad.mit.edu	37	5	172386933	172386933	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:172386933C>T	ENST00000521476.1	+	2	181	c.57C>T	c.(55-57)ttC>ttT	p.F19F	RPL26L1_ENST00000519974.1_Silent_p.F19F|RPL26L1_ENST00000265100.2_Silent_p.F19F|RPL26L1_ENST00000519239.1_Silent_p.F19F			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	19					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	p.F19F(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACGTCACTTCAATGCCCCCT	0.567000													52	216					0	0	0.014410	0	0
PACS1	55690	broad.mit.edu	37	11	65983668	65983668	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65983668G>C	ENST00000320580.4	+	5	772	c.739G>C	c.(739-741)Gaa>Caa	p.E247Q		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	247					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.E247Q(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GCCTGTGGCAGAAATAAAGAT	0.517000													24	69					0	0	0.003954	0	0
ARID4B	51742	broad.mit.edu	37	1	235357527	235357527	+	Splice_Site	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:235357527C>G	ENST00000264183.3	-	19	2424		c.e19-1		ARID4B_ENST00000366603.2_Splice_Site|ARID4B_ENST00000349213.3_Splice_Site	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.?(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTAATTTATTCTAGGTTAAGA	0.303000													10	42					0	0	0.006214	0	0
SPIDR	23514	broad.mit.edu	37	8	48641544	48641544	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:48641544C>T	ENST00000297423.4	+	18	2869	c.2485C>T	c.(2485-2487)Ctc>Ttc	p.L829F	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518060.1_Missense_Mutation_p.L31F|SPIDR_ENST00000541342.1_Missense_Mutation_p.L759F|SPIDR_ENST00000518074.1_Missense_Mutation_p.L769F|SPIDR_ENST00000517693.1_Missense_Mutation_p.L304F	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1			scaffolding protein involved in DNA repair									p.L829F(1)									ATCTCCTGTTCTCAAGAGGCA	0.592000													24	90					0	0	0.003330	0	0
PTCH1	5727	broad.mit.edu	37	9	98232132	98232132	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:98232132C>G	ENST00000430669.2	-	13	2197	c.1612G>C	c.(1612-1614)Gag>Cag	p.E538Q	PTCH1_ENST00000437951.1_Missense_Mutation_p.E538Q|PTCH1_ENST00000375274.2_Missense_Mutation_p.E603Q|PTCH1_ENST00000418258.1_Missense_Mutation_p.E453Q|PTCH1_ENST00000429896.2_Missense_Mutation_p.E453Q|PTCH1_ENST00000331920.6_Missense_Mutation_p.E604Q|PTCH1_ENST00000421141.1_Missense_Mutation_p.E453Q			Q13635	PTC1_HUMAN	patched 1	604	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.E604Q(2)|p.E603Q(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTCCTGTCCTCGCGTCGATAT	0.438000													46	158					0	0	0.011902	0	0
NBPF12	149013	broad.mit.edu	37	1	146399560	146399560	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:146399560G>C	ENST00000442909.2	+	8	1335	c.499G>C	c.(499-501)Gat>Cat	p.D167H	NBPF12_ENST00000309471.8_Missense_Mutation_p.D92H|NBPF12_ENST00000446760.2_Missense_Mutation_p.D167H					neuroblastoma breakpoint family, member 12									p.D167H(2)		ovary(2)	2						TATAGAAAATGATGAAGATGA	0.413000													25	153					0	0	0.007835	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130652994	130652994	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:130652994T>C	ENST00000373146.1	-	5	805	c.626A>G	c.(625-627)aAc>aGc	p.N209S	ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.N209S|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.N209S|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.N175S|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.N175S			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	209					protein glycosylation	integral to Golgi membrane|plasma membrane		p.N209S(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCTTCCATGTTGGGGAACAC	0.642000													15	76					0	0	0.007413	0	0
CILP2	148113	broad.mit.edu	37	19	19651906	19651906	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:19651906C>G	ENST00000586018.1	+	4	563	c.461C>G	c.(460-462)tCg>tGg	p.S154W	CILP2_ENST00000291495.5_Missense_Mutation_p.S148W|CILP2_ENST00000588333.2_3'UTR			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	148	TSP type-1.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.S148W(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCAGAAGCCTCGTGGGGCGCG	0.716000													5	3					0	0	0.000602	0	0
IL36B	27177	broad.mit.edu	37	2	113785616	113785616	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:113785616G>C	ENST00000327407.2	-	5	445	c.338C>G	c.(337-339)tCc>tGc	p.S113C	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	59					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.S113C(1)		kidney(1)|ovary(1)|pancreas(1)	3						GACAGAAGTGGAGCCTTCTTT	0.468000													10	119					0	0	0.008291	0	0
IRS1	3667	broad.mit.edu	37	2	227663125	227663125	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:227663125G>C	ENST00000305123.5	-	1	1350	c.330C>G	c.(328-330)ctC>ctG	p.L110L		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Mediates interaction with PHIP (By similarity).|PH.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.L110L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCAGCTGTAGGAGAGCCTGGT	0.672000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	131					0	0	0.004656	0	0
CRTC3	64784	broad.mit.edu	37	15	91083274	91083274	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:91083274C>G	ENST00000420329.2	+	2	283	c.136C>G	c.(136-138)Caa>Gaa	p.Q46E	CRTC3_ENST00000560098.1_Missense_Mutation_p.Q46E|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000268184.6_Missense_Mutation_p.Q46E	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	46	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.Q46E(1)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TTTCCAGGTTCAATTTCAGAA	0.443000			T	MAML2	salivary gland mucoepidermoid								25	48					0	0	0.004656	0	0
RYR1	6261	broad.mit.edu	37	19	39008108	39008108	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:39008108G>A	ENST00000355481.4	+	66	9926	c.9795G>A	c.(9793-9795)gaG>gaA	p.E3265E	RYR1_ENST00000359596.3_Silent_p.E3265E|RYR1_ENST00000360985.3_Silent_p.E3265E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3265					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E3265E(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTACACAGAGATGCCGCATG	0.672000													16	45					0	0	0.004007	0	0
C2	717	broad.mit.edu	37	6	31913003	31913003	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:31913003G>A	ENST00000299367.5	+	18	2404	c.2128G>A	c.(2128-2130)Gac>Aac	p.D710N	C2_ENST00000468407.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.D578N|CFB_ENST00000556679.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.D464N|C2_ENST00000452323.2_Missense_Mutation_p.D496N|CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Intron	NM_000063.4	NP_000054.2			complement component 2									p.D710N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TGGCTCTGCTGACAAAAACTC	0.592000													32	103					0	0	0.010818	0	0
LATS2	26524	broad.mit.edu	37	13	21562246	21562246	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:21562246C>T	ENST00000382592.4	-	4	2078	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	LATS2_ENST00000542899.1_Missense_Mutation_p.R558H	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	558					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R558H(3)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGCGCTTTTGCGGCTCTTGTC	0.612000													5	150					0	0	0.001984	0	0
MOGS	7841	broad.mit.edu	37	2	74689052	74689052	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:74689052C>T	ENST00000233616.4	-	4	2026	c.1864G>A	c.(1864-1866)Gag>Aag	p.E622K	MOGS_ENST00000452063.2_Missense_Mutation_p.E516K|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	622					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	p.E622K(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GCAGCTACCTCAGCCTCACCC	0.632000													13	53					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	8999056	8999056	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:8999056G>A	ENST00000397910.4	-	57	40991	c.40788C>T	c.(40786-40788)ttC>ttT	p.F13596F	MUC16_ENST00000380951.5_Silent_p.F237F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13598				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.F281F(1)|p.F13596F(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						TCCGCTGTGTGAAACCTGCAT	0.537000													6	20					0	0	0.001168	0	0
MALAT1	378938	broad.mit.edu	37	11	65271394	65271394	+	RNA	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65271394G>C	ENST00000534336.1	+	0	6162					NR_002819.2																						ATTATGATCAGAGTAAAAGGT	0.338000													8	25					0	0	0.004482	0	0
ADCY6	112	broad.mit.edu	37	12	49176905	49176905	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:49176905C>T	ENST00000307885.4	-	1	1007	c.313G>A	c.(313-315)Gag>Aag	p.E105K	ADCY6_ENST00000550422.1_Missense_Mutation_p.E105K|ADCY6_ENST00000357869.3_Missense_Mutation_p.E105K	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	105					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.E105K(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGCGCCACCTCAGCCGTCCCG	0.711000													22	89					0	0	0.003330	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870089	140870089	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140870089G>A	ENST00000252087.1	+	1	1282	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		428	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D428N(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCCAGCGATGCTGGTTC	0.512000													76	244					0	0	0.014410	0	0
FGD4	121512	broad.mit.edu	37	12	32735372	32735372	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:32735372G>A	ENST00000427716.2	+	4	995	c.571G>A	c.(571-573)Gag>Aag	p.E191K	FGD4_ENST00000525053.1_Missense_Mutation_p.E303K|FGD4_ENST00000531134.1_Missense_Mutation_p.E276K|FGD4_ENST00000546442.1_Missense_Mutation_p.E98K|FGD4_ENST00000534526.2_Missense_Mutation_p.E328K|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000472289.1_Missense_Mutation_p.E191K	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	191					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.E191K(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TCTGGAACTGGAGCAGCTGGA	0.498000													14	75					0	0	0.003163	0	0
LCN2	3934	broad.mit.edu	37	9	130914288	130914288	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:130914288C>G	ENST00000540948.1	+	4	532	c.459C>G	c.(457-459)ttC>ttG	p.F153L	LCN2_ENST00000277480.2_Missense_Mutation_p.F153L|LCN2_ENST00000373017.1_Missense_Mutation_p.F153L|LCN2_ENST00000373013.2_Missense_Mutation_p.F155L|LCN2_ENST00000372998.1_Missense_Mutation_p.F155L|LCN2_ENST00000470902.1_3'UTR			P80188	NGAL_HUMAN	lipocalin 2	153					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	p.F153L(1)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						GGGAGTACTTCAAGATCACCC	0.547000													36	155					0	0	0.006999	0	0
CHKB	1120	broad.mit.edu	37	22	51020725	51020725	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:51020725C>T	ENST00000406938.2	-	2	503	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	96					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	p.E96K(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CGGGGCTCCTCGCCAACGCTG	0.701000													3	8					0	0	0.004672	0	0
FLNA	2316	broad.mit.edu	37	X	153577785	153577785	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:153577785C>T	ENST00000422373.1	-	46	7925	c.7677G>A	c.(7675-7677)ctG>ctA	p.L2559L	FLNA_ENST00000360319.4_Silent_p.L2559L|FLNA_ENST00000344736.4_Silent_p.L2527L|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000369850.3_Silent_p.L2567L|FLNA_ENST00000369856.3_Silent_p.L700L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2567	Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.L2567L(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					AGGCCTTGCTCAGCCCCAGGC	0.657000													51	119					0	0	0.014410	0	0
BRD7	29117	broad.mit.edu	37	16	50384019	50384019	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:50384019G>C	ENST00000394688.3	-	5	665	c.506C>G	c.(505-507)tCc>tGc	p.S169C	BRD7_ENST00000394689.2_Missense_Mutation_p.S169C|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	169	Bromo.				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.S169C(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AATGATCATGGAGTAGCCAGG	0.328000													24	77					0	0	0.014323	0	0
KCNS2	3788	broad.mit.edu	37	8	99440459	99440459	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:99440459C>T	ENST00000287042.4	+	2	602	c.252C>T	c.(250-252)ttC>ttT	p.F84F	KCNS2_ENST00000521839.1_Silent_p.F84F	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	84						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F84F(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TGCTGCATTTCTATCACACCG	0.557000													34	138					0	0	0.013726	0	0
UBAP2L	9898	broad.mit.edu	37	1	154233401	154233401	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:154233401C>A	ENST00000428931.1	+	23	2779	c.2612C>A	c.(2611-2613)tCc>tAc	p.S871Y	UBAP2L_ENST00000343815.6_Missense_Mutation_p.S871Y|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S882Y|UBAP2L_ENST00000361546.2_Missense_Mutation_p.S871Y	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	871					binding of sperm to zona pellucida		protein binding	p.S871Y(2)|p.S367Y(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGATGCCTCCTCCCCAGCC	0.567000													16	80					2.31682e-05	2.35698e-05	0.003163	1	0
SMAD2	4087	broad.mit.edu	37	18	45368266	45368266	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:45368266G>C	ENST00000402690.2	-	11	1730	c.1336C>G	c.(1336-1338)Cta>Gta	p.L446V	SMAD2_ENST00000586040.1_Missense_Mutation_p.L416V|SMAD2_ENST00000356825.4_Missense_Mutation_p.L416V|SMAD2_ENST00000262160.6_Missense_Mutation_p.L446V	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	446	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	p.L446V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						AACCACTGTAGAGGTCCATTC	0.408000													20	72					0	0	0.008871	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94919406	94919406	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:94919406C>G	ENST00000289495.5	+	18	3898	c.3682C>G	c.(3682-3684)Ctt>Gtt	p.L1228V	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.L1185V|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.L1030V|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.L1185V|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.L1306V|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.L1030V	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1030						cell junction|synapse|synaptosome	actin binding	p.L1306V(1)|p.L1254V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCTTAGGCTCTTGGAATGAC	0.413000										HNSCC(28;0.073)			10	41					0	0	0.008291	0	0
OCIAD2	132299	broad.mit.edu	37	4	48901920	48901920	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:48901920G>C	ENST00000508632.1	-	3	321	c.89C>G	c.(88-90)tCa>tGa	p.S30*	OCIAD2_ENST00000508069.2_Intron|OCIAD2_ENST00000273860.4_Nonsense_Mutation_p.S30*	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	30	OCIA.					endosome		p.S30*(1)		kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						GTGCAGTTTTGATTTTGGACA	0.393000													10	112					0	0	0.010729	0	0
SPACA3	124912	broad.mit.edu	37	17	31318969	31318969	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:31318969C>T	ENST00000269053.3	+	1	83	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	SPACA3_ENST00000394638.1_Silent_p.L5L|SPACA3_ENST00000580599.1_Intron	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	5					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	p.L5L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GGTCTCAGCTCTGCGGGGAGC	0.607000													4	33					0	0	0.003080	0	0
ADCY7	113	broad.mit.edu	37	16	50346030	50346030	+	Silent	SNP	G	G	A	rs138338317	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:50346030G>A	ENST00000394697.2	+	21	2872	c.2532G>A	c.(2530-2532)gtG>gtA	p.V844V	ADCY7_ENST00000254235.3_Silent_p.V844V			P51828	ADCY7_HUMAN	adenylate cyclase 7	844					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.V844V(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGGAGAACGTGAACCGCCTTC	0.552000													39	93					0	0	0.006999	0	0
OR7A5	26659	broad.mit.edu	37	19	14938601	14938601	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:14938601C>G	ENST00000322301.3	-	2	540	c.453G>C	c.(451-453)atG>atC	p.M151I	OR7A5_ENST00000594432.1_Missense_Mutation_p.M151I|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M151I(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						ACAGAGCACTCATGGTCCAGG	0.488000													23	55					0	0	0.012319	0	0
SLC6A16	28968	broad.mit.edu	37	19	49814319	49814319	+	Missense_Mutation	SNP	C	C	G	rs148710394	by1000genomes	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:49814319C>G	ENST00000454748.3	-	2	487	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	SLC6A16_ENST00000335875.4_Missense_Mutation_p.E96Q			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	96						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.E96Q(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		ACCTCACTCTCTTTCTTCTCT	0.517000													27	92					0	0	0.008361	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98691087	98691087	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:98691087C>G	ENST00000288985.7	+	11	2030	c.1725C>G	c.(1723-1725)ctC>ctG	p.L575L	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Silent_p.L386L	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	575	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	p.L575L(1)									AGGAAAGACTCAAGATTGTAA	0.368000													22	102					0	0	0.014323	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68163633	68163633	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:68163633C>G	ENST00000262215.3	-	19	3140	c.2751G>C	c.(2749-2751)caG>caC	p.Q917H	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q371H	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	917					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.Q917H(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCTTGGCCATCTGCTCCATTT	0.398000													7	50					0	0	0.004482	0	0
FCRL5	83416	broad.mit.edu	37	1	157504671	157504671	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:157504671G>A	ENST00000361835.3	-	8	1571	c.1414C>T	c.(1414-1416)Cat>Tat	p.H472Y	FCRL5_ENST00000368191.3_Missense_Mutation_p.H387Y|FCRL5_ENST00000368190.3_Missense_Mutation_p.H472Y|FCRL5_ENST00000368189.3_Missense_Mutation_p.H472Y|FCRL5_ENST00000356953.4_Missense_Mutation_p.H472Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	472						integral to membrane|plasma membrane	receptor activity	p.H472Y(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGACAGGATGAGACACAGGG	0.493000													22	59					0	0	0.014323	0	0
AMDHD2	51005	broad.mit.edu	37	16	2570863	2570863	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:2570863G>A	ENST00000302956.4	+	2	271	c.177G>A	c.(175-177)ggG>ggA	p.G59G	ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_Silent_p.G59G|AMDHD2_ENST00000293971.6_Silent_p.G59G			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	59					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	p.G59G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GGGACTGCGGGGGCCGCATCT	0.687000													4	33					0	0	0.003080	0	0
KPNA1	3836	broad.mit.edu	37	3	122215299	122215299	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:122215299C>G	ENST00000344337.6	-	2	290	c.114G>C	c.(112-114)caG>caC	p.Q38H		NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	38	IBB.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	p.Q38H(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CTTCTCTTTTCTGCTTTCGTA	0.373000													26	183					0	0	0.005443	0	0
SLC12A7	10723	broad.mit.edu	37	5	1064231	1064231	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:1064231G>C	ENST00000264930.5	-	19	2617	c.2574C>G	c.(2572-2574)ctC>ctG	p.L858L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	858					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	p.L858L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCAGCAGCATGAGCATGCCGC	0.697000													5	20					0	0	0.000602	0	0
PSMA6	5687	broad.mit.edu	37	14	35786501	35786501	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:35786501G>C	ENST00000261479.4	+	7	850	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	PSMA6_ENST00000553809.1_Missense_Mutation_p.E250Q|PSMA6_ENST00000556506.1_3'UTR|PSMA6_ENST00000540871.1_Missense_Mutation_p.E225Q|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_Missense_Mutation_p.E165Q	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	244					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|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|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	p.E244Q(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TGCTCTAGCAGAGAGAGACTA	0.393000													30	168					0	0	0.012213	0	0
ENGASE	64772	broad.mit.edu	37	17	77078258	77078258	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:77078258C>G	ENST00000539857.2	+	6	1008	c.593C>G	c.(592-594)tCt>tGt	p.S198C	ENGASE_ENST00000584568.1_Intron|ENGASE_ENST00000579016.1_Intron			Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	0						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGCAGCTGTTCTTCCCAGAGT	0.577000													8	13					0	0	0.003080	0	0
IL1RL1	9173	broad.mit.edu	37	2	102956721	102956721	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:102956721G>C	ENST00000311734.2	+	4	775	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	IL1RL1_ENST00000404917.2_Missense_Mutation_p.E29Q|IL1RL1_ENST00000233954.1_Missense_Mutation_p.E146Q|IL1RL1_ENST00000393393.3_Missense_Mutation_p.E146Q|IL1RL1_ENST00000409584.1_Missense_Mutation_p.E146Q	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	146	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.E146Q(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGCACCTCTTGAGTGGTTTAA	0.373000													12	62					0	0	0.001855	0	0
OR5L2	26338	broad.mit.edu	37	11	55594852	55594852	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:55594852C>T	ENST00000378397.1	+	1	158	c.158C>T	c.(157-159)tCt>tTt	p.S53F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S53F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CAGGTCAGCTCTCGGCTCCAC	0.478000										HNSCC(27;0.073)			99	289					0	0	0.014410	0	0
SVEP1	79987	broad.mit.edu	37	9	113312147	113312147	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:113312147G>A	ENST00000401783.2	-	2	1105	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	SVEP1_ENST00000374469.1_Missense_Mutation_p.R234C|SVEP1_ENST00000302728.8_Missense_Mutation_p.R257C|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.R234C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	257	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.R257C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATGCCCGGCGAGCTAAAGCC	0.478000													6	21					0	0	0.001168	0	0
CXCL5	6374	broad.mit.edu	37	4	74863775	74863775	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:74863775G>C	ENST00000296027.4	-	3	477	c.280C>G	c.(280-282)Cca>Gca	p.P94A		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	94					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity	p.P94A(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGGGCTTCTGGATCAAGACAA	0.433000													32	137					0	0	0.012213	0	0
ULK2	9706	broad.mit.edu	37	17	19689261	19689261	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:19689261C>G	ENST00000395544.4	-	21	2739	c.2240G>C	c.(2239-2241)aGa>aCa	p.R747T	ULK2_ENST00000361658.2_Missense_Mutation_p.R747T	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	747					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	p.R747T(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGAGGTTGTTCTTGTTCGAAG	0.463000													18	58					0	0	0.007413	0	0
HPSE	10855	broad.mit.edu	37	4	84230599	84230599	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:84230599C>T	ENST00000405413.2	-	8	1076	c.940G>A	c.(940-942)Gat>Aat	p.D314N	HPSE_ENST00000512196.1_Missense_Mutation_p.D314N|HPSE_ENST00000311412.5_Missense_Mutation_p.D314N|HPSE_ENST00000513463.1_Missense_Mutation_p.D256N	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	314					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	p.D314N(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TCCAATACATCAGGGTTTAGA	0.279000													15	74					0	0	0.006122	0	0
RFT1	91869	broad.mit.edu	37	3	53157763	53157763	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:53157763C>T	ENST00000296292.3	-	3	304	c.243G>A	c.(241-243)caG>caA	p.Q81Q	RFT1_ENST00000394738.3_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	81					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	p.Q81Q(1)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GGTTGAGGGTCTGGCTCCAGT	0.542000													13	49					0	0	0.013537	0	0
NDUFS3	4722	broad.mit.edu	37	11	47602301	47602301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:47602301C>T	ENST00000534208.1	+	3	378	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	NDUFS3_ENST00000528192.1_Intron|NDUFS3_ENST00000534716.2_Intron|NDUFS3_ENST00000533507.1_3'UTR|NDUFS3_ENST00000263774.4_Intron			O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	0					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	ACTTTTCTCTCAGCATTAAAC	0.488000													18	68					0	0	0.004990	0	0
MSRB2	22921	broad.mit.edu	37	10	23408326	23408326	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:23408326G>A	ENST00000376510.3	+	4	493	c.390G>A	c.(388-390)ctG>ctA	p.L130L	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	130					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L130L(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	CAGGGATCCTGAGACGTCTGG	0.512000													25	94					0	0	0.002780	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705099	41705099	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41705099C>T	ENST00000379485.1	-	1	1783	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.E451K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	517							protein binding	p.E517K(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)		ACGCAGGCTTCCTGAAAGTCA	0.433000													20	109					0	0	0.007413	0	0
ARID4A	5926	broad.mit.edu	37	14	58831340	58831340	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:58831340G>A	ENST00000355431.3	+	20	2906	c.2533G>A	c.(2533-2535)Gaa>Aaa	p.E845K	ARID4A_ENST00000395168.3_Missense_Mutation_p.E845K|ARID4A_ENST00000431317.2_Missense_Mutation_p.E845K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E845K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	845					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.E845K(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TACAGAAGATGAAATTGACCA	0.343000													8	50					0	0	0.003080	0	0
MALAT1	378938	broad.mit.edu	37	11	65272844	65272844	+	RNA	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65272844G>C	ENST00000534336.1	+	0	7612					NR_002819.2																						AGGAATGCTTGAAGTACCCCT	0.438000													16	68					0	0	0.006122	0	0
SZT2	23334	broad.mit.edu	37	1	43905293	43905293	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:43905293C>G	ENST00000562955.1	+	49	6724	c.6724C>G	c.(6724-6726)Cta>Gta	p.L2242V	SZT2_ENST00000372442.1_Missense_Mutation_p.L1400V|SZT2_ENST00000471177.1_3'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2299						peroxisome		p.L1400V(2)|p.L2242V(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGCATCACTCTAGCCTTTGT	0.622000													40	170					0	0	0.008740	0	0
SOS1	6654	broad.mit.edu	37	2	39213087	39213087	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:39213087G>C	ENST00000426016.1	-	24	3966	c.3880C>G	c.(3880-3882)Cca>Gca	p.P1294A	SOS1_ENST00000395038.2_Missense_Mutation_p.P1279A|SOS1_ENST00000402219.2_Missense_Mutation_p.P1294A			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1294					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.P1294A(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTTTGTCGTGGAGGAACAGGC	0.502000									Noonan syndrome				94	204					0	0	0.014410	0	0
DPY19L2	283417	broad.mit.edu	37	12	63963010	63963010	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:63963010C>G	ENST00000324472.4	-	21	2303	c.2120G>C	c.(2119-2121)aGa>aCa	p.R707T	DPY19L2_ENST00000413230.2_Missense_Mutation_p.R154T	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	707					multicellular organismal development|spermatid development	integral to membrane		p.R707T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCACTTAGTTCTCACAACACA	0.299000													37	120					0	0	0.014410	0	0
SYNE1	23345	broad.mit.edu	37	6	152461256	152461256	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:152461256C>G	ENST00000367255.5	-	140	25888	c.25287G>C	c.(25285-25287)ttG>ttC	p.L8429F	SYNE1_ENST00000265368.4_Missense_Mutation_p.L8429F|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2953F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L8041F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L8381F|SYNE1_ENST00000539504.1_Missense_Mutation_p.L584F|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.L607F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L8381F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8429					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.L8429F(2)|p.L8381F(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)		ACTCCTTGCTCAATGCCTGGG	0.502000										HNSCC(10;0.0054)			33	125					0	0	0.003755	0	0
YES1	7525	broad.mit.edu	37	18	756831	756831	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:756831C>G	ENST00000577961.1	-	2	82	c.12G>C	c.(10-12)ttG>ttC	p.L4F	YES1_ENST00000314574.4_5'UTR|YES1_ENST00000584307.1_5'UTR|YES1_ENST00000577611.1_5'UTR			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	0					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	AGCCCATTATCAAATCTACAG	0.343000													14	50					0	0	0.001855	0	0
CAMKV	79012	broad.mit.edu	37	3	49899235	49899235	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:49899235G>C	ENST00000477224.1	-	4	769	c.291C>G	c.(289-291)atC>atG	p.I97M	CAMKV_ENST00000467248.1_Missense_Mutation_p.I22M|CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000466940.1_Missense_Mutation_p.I97M|CAMKV_ENST00000463537.1_Missense_Mutation_p.I97M|CAMKV_ENST00000488336.1_Missense_Mutation_p.I97M|CAMKV_ENST00000296471.7_Missense_Mutation_p.I97M			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	97	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.I97M(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCTCCAGGAAGATAAAGTACT	0.582000													14	65					0	0	0.003163	0	0
UBP1	7342	broad.mit.edu	37	3	33450953	33450953	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:33450953G>C	ENST00000283629.3	-	6	1225	c.696C>G	c.(694-696)atC>atG	p.I232M	UBP1_ENST00000447368.2_Missense_Mutation_p.I232M|UBP1_ENST00000283628.5_Missense_Mutation_p.I232M	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	232					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.I232M(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TAAAAACTTTGATTTGGCAGC	0.418000													45	142					0	0	0.011902	0	0
CXCL8	3576	broad.mit.edu	37	4	74607297	74607297	+	Missense_Mutation	SNP	C	C	G	rs149273289		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:74607297C>G	ENST00000307407.3	+	2	256	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	IL8_ENST00000401931.1_Missense_Mutation_p.Q35E	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN	interleukin 8	35					angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication	extracellular space|intracellular	chemokine activity|interleukin-8 receptor binding	p.Q35E(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)	Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744)	ACTTAGATGTCAGTGCATAAA	0.423000													16	58					0	0	0.006122	0	0
DDX23	9416	broad.mit.edu	37	12	49231850	49231850	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:49231850G>C	ENST00000308025.3	-	6	573	c.494C>G	c.(493-495)tCt>tGt	p.S165C	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	165	Glu-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.S165C(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTCTGCTTTAGAGAGGAACTT	0.498000													39	164					0	0	0.007835	0	0
UBP1	7342	broad.mit.edu	37	3	33458292	33458292	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:33458292C>G	ENST00000283629.3	-	3	829	c.300G>C	c.(298-300)cgG>cgC	p.R100R	UBP1_ENST00000447368.2_Silent_p.R100R|UBP1_ENST00000283628.5_Silent_p.R100R	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	100					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R100R(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CACCCATTTTCCGATTATCCA	0.318000													27	79					0	0	0.007291	0	0
DTX3	196403	broad.mit.edu	37	12	58001129	58001129	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:58001129G>C	ENST00000548198.1	+	3	1987	c.483G>C	c.(481-483)gaG>gaC	p.E161D	DTX3_ENST00000548804.1_Missense_Mutation_p.E161D|DTX3_ENST00000551632.1_Missense_Mutation_p.E164D|DTX3_ENST00000337737.3_Missense_Mutation_p.E161D			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	161					Notch signaling pathway	cytoplasm	zinc ion binding	p.E161D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					AAGAGCAGGAGAGCACCTGCC	0.662000													6	16					0	0	0.001984	0	0
UNC45B	146862	broad.mit.edu	37	17	33507615	33507615	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:33507615G>A	ENST00000268876.5	+	18	2396	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K	UNC45B_ENST00000394570.2_Missense_Mutation_p.E765K|UNC45B_ENST00000591048.1_Missense_Mutation_p.E686K|UNC45B_ENST00000378449.1_Missense_Mutation_p.E686K|UNC45B_ENST00000433649.1_Missense_Mutation_p.E765K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	767					cell differentiation|muscle organ development	cytosol	binding	p.E767K(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCCAGACATCGAGAACTACAT	0.547000													15	66					0	0	0.004007	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763130	140763130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140763130C>T	ENST00000518325.1	+	1	664	c.664C>T	c.(664-666)Cga>Tga	p.R222*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1												p.R222*(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCCGCCCCGATCCAGCAC	0.607000													7	15					0	0	0.001984	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044319	90044319	+	RNA	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:90044319C>G	ENST00000462693.1	+	0	270																											CTAACCGGTTCTCTGGGGTCC	0.507000													55	198					0	0	0.014410	0	0
BFSP2	8419	broad.mit.edu	37	3	133185754	133185754	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:133185754C>T	ENST00000302334.2	+	5	1063	c.974C>T	c.(973-975)tCg>tTg	p.S325L	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	325	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	p.S325L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CACAACACTTCGTGCCAAGTC	0.562000													23	143					0	0	0.002780	0	0
FNBP4	23360	broad.mit.edu	37	11	47753046	47753046	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:47753046C>T	ENST00000263773.5	-	12	1900	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	630	Poly-Glu.							p.E630K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCTTCCTCTTCACCATCTGGA	0.393000													46	163					0	0	0.013114	0	0
XIRP2	129446	broad.mit.edu	37	2	167992460	167992460	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:167992460G>C	ENST00000409195.1	+	3	539	c.450G>C	c.(448-450)aaG>aaC	p.K150N	XIRP2_ENST00000420519.1_Missense_Mutation_p.K150N|XIRP2_ENST00000409043.1_Missense_Mutation_p.K150N|XIRP2_ENST00000295237.9_Missense_Mutation_p.K150N|XIRP2_ENST00000409728.1_Missense_Mutation_p.K150N|XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000409756.2_Missense_Mutation_p.K150N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.K150N(2)		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						CAGCTTTTAAGAGTCACCCTG	0.433000													21	67					0	0	0.012319	0	0
CLSTN2	64084	broad.mit.edu	37	3	140185546	140185546	+	Silent	SNP	C	C	T	rs139804872	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:140185546C>T	ENST00000458420.3	+	8	1507	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	439					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.P439P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTTTCGCCCCGCGGAGTTCC	0.567000										HNSCC(16;0.037)			15	105					0	0	0.004007	0	0
DOLK	22845	broad.mit.edu	37	9	131709436	131709436	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:131709436G>C	ENST00000372586.3	-	1	462	c.147C>G	c.(145-147)ctC>ctG	p.L49L	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	49					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	p.L49L(1)		breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCTGCACTGCGAGGGCCACGG	0.602000													19	68					0	0	0.010504	0	0
CNNM3	26505	broad.mit.edu	37	2	97494773	97494773	+	Missense_Mutation	SNP	G	G	A	rs149301704		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:97494773G>A	ENST00000305510.3	+	7	1989	c.1961G>A	c.(1960-1962)cGa>cAa	p.R654Q	CNNM3_ENST00000480035.1_3'UTR|ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.R606Q	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	654					ion transport	integral to membrane|plasma membrane	protein binding	p.R654Q(1)		NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CTGGCTACCCGAGCCCAGAAC	0.587000													25	38					0	0	0.003330	0	0
JAG1	182	broad.mit.edu	37	20	10632342	10632342	+	Splice_Site	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:10632342G>T	ENST00000254958.5	-	8	1522	c.1007C>A	c.(1006-1008)gCt>gAt	p.A336D	JAG1_ENST00000423891.2_Splice_Site_p.A177D	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	336	EGF-like 4.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	p.A336D(2)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGCGTGCTCAGCTGCAAAAAC	0.607000									Alagille Syndrome				6	20					8.12818e-05	8.26014e-05	0.001984	1	0
KCNT1	57582	broad.mit.edu	37	9	138669288	138669288	+	Silent	SNP	C	C	T	rs149452823		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:138669288C>T	ENST00000298480.5	+	21	2528	c.2454C>T	c.(2452-2454)atC>atT	p.I818I	KCNT1_ENST00000263604.3_Silent_p.I799I|KCNT1_ENST00000486577.2_Silent_p.I777I|KCNT1_ENST00000488444.2_Silent_p.I799I|KCNT1_ENST00000490355.2_Silent_p.I797I|KCNT1_ENST00000491806.2_Silent_p.I785I|KCNT1_ENST00000487664.1_Silent_p.I773I|KCNT1_ENST00000371757.2_Silent_p.I818I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	818						membrane	binding|calcium-activated potassium channel activity	p.I818I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACAACTTCATCGTGCCACTGC	0.602000													17	87					0	0	0.007413	0	0
KIF11	3832	broad.mit.edu	37	10	94405256	94405256	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:94405256G>A	ENST00000260731.3	+	18	2494	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	802					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	p.D802N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAACACTCTGATAAACTCAA	0.363000													17	84					0	0	0.006122	0	0
CRYBB1	1414	broad.mit.edu	37	22	27003914	27003914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:27003914C>T	ENST00000215939.2	-	4	501	c.371G>A	c.(370-372)tGg>tAg	p.W124*		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	124	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens	p.W124*(1)|p.W124Y(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CCATGTGTTCCAGCGAGGGTA	0.592000													22	54					0	0	0.010504	0	0
LAMC2	3918	broad.mit.edu	37	1	183194782	183194782	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:183194782G>A	ENST00000264144.4	+	8	1058	c.993G>A	c.(991-993)ctG>ctA	p.L331L	LAMC2_ENST00000493293.1_Silent_p.L331L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	331	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.L331L(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCCCCCAGCTGAGTTACTTTG	0.398000													47	153					0	0	0.014410	0	0
C4orf29	80167	broad.mit.edu	37	4	128938605	128938605	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:128938605G>A	ENST00000388795.5	+	8	715	c.312G>A	c.(310-312)gaG>gaA	p.E104E	C4orf29_ENST00000444616.1_Silent_p.E186E|C4orf29_ENST00000398965.1_Silent_p.E186E			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	186						extracellular region		p.E186E(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ACTGGCTAGAGAGGGAAGGTT	0.418000													8	16					0	0	0.003080	0	0
PTGER4	5734	broad.mit.edu	37	5	40692015	40692015	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:40692015G>C	ENST00000302472.3	+	3	2026	c.1002G>C	c.(1000-1002)aaG>aaC	p.K334N		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	334					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.K334N(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TCCTGAGAAAGACAGTGCTCA	0.507000													54	145					0	0	0.014410	0	0
MIR520A	574467	broad.mit.edu	37	19	54194177	54194177	+	RNA	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:54194177G>C	ENST00000384862.1	+	0	43					NR_030189.1																						TCTGTTGTCTGAGAGAAAAGA	0.443000													48	175					0	0	0.014410	0	0
KIF15	56992	broad.mit.edu	37	3	44893313	44893313	+	Missense_Mutation	SNP	G	G	C	rs77808243		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:44893313G>C	ENST00000326047.4	+	33	3990	c.3841G>C	c.(3841-3843)Gag>Cag	p.E1281Q	KIF15_ENST00000425755.1_Missense_Mutation_p.E916Q	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1281					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	p.E1281Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTACAACAAAGAGATGGAATG	0.373000													43	158					0	0	0.013114	0	0
TNS1	7145	broad.mit.edu	37	2	218712319	218712319	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:218712319G>A	ENST00000171887.4	-	17	2998	c.2546C>T	c.(2545-2547)tCa>tTa	p.S849L	TNS1_ENST00000419504.1_Missense_Mutation_p.S849L|TNS1_ENST00000430930.1_Missense_Mutation_p.S849L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	849						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.S849L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTCCTTTGGTGAGAGCAGAGG	0.602000													39	97					0	0	0.004878	0	0
UTP20	27340	broad.mit.edu	37	12	101711260	101711260	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:101711260G>C	ENST00000261637.4	+	22	2731	c.2557G>C	c.(2557-2559)Gag>Cag	p.E853Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	853					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.E853Q(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CGGTAGCAATGAGTATTACCC	0.488000													16	51					0	0	0.004990	0	0
CNOT3	4849	broad.mit.edu	37	19	54646863	54646863	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:54646863G>C	ENST00000406403.1	+	2	1637	c.34G>C	c.(34-36)Gat>Cat	p.D12H	CNOT3_ENST00000221232.5_Missense_Mutation_p.D12H|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	12					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.D12H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGGTGAGATTGATCGCTGCCT	0.537000													36	247					0	0	0.009718	0	0
MRPL53	116540	broad.mit.edu	37	2	74699247	74699247	+	Nonstop_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:74699247C>A	ENST00000258105.7	-	3	999	c.338G>T	c.(337-339)tGa>tTa	p.*113L	MRPL53_ENST00000409710.1_3'UTR	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	0						mitochondrion|ribosome		p.*113L(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						TTGGCGCTGTCAGCGACCAGT	0.547000													26	84					2.44723e-14	2.54198e-14	0.004656	1	0
ZNF263	10127	broad.mit.edu	37	16	3339455	3339455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3339455C>T	ENST00000219069.5	+	6	1825	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	ZNF263_ENST00000574253.1_Silent_p.L150L|ZNF263_ENST00000538765.1_5'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	317					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q317*(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CATCCACCCTCAGGTGCTGCT	0.562000													45	163					0	0	0.014410	0	0
ZNF200	7752	broad.mit.edu	37	16	3273910	3273910	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3273910C>G	ENST00000431561.3	-	5	1782	c.1170G>C	c.(1168-1170)aaG>aaC	p.K390N	AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396868.3_Missense_Mutation_p.K389N|ZNF200_ENST00000575948.1_Missense_Mutation_p.K389N|ZNF200_ENST00000414144.2_Missense_Mutation_p.K390N|ZNF200_ENST00000396871.4_Missense_Mutation_p.K389N|ZNF200_ENST00000396870.4_Missense_Mutation_p.K389N	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.K390N(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GCTTTCGGGTCTTACAGGCTG	0.483000													50	307					0	0	0.014410	0	0
TRIP12	9320	broad.mit.edu	37	2	230656622	230656622	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:230656622G>A	ENST00000283943.5	-	28	4328	c.4150C>T	c.(4150-4152)Cta>Tta	p.L1384L	TRIP12_ENST00000389045.3_Silent_p.L1114L|TRIP12_ENST00000389044.4_Silent_p.L1432L	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1384					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.L1384L(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCTCTGCCTAGAGGATTGCTC	0.378000													58	199					0	0	0.014410	0	0
LRIT2	340745	broad.mit.edu	37	10	85984808	85984808	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:85984808T>G	ENST00000372113.4	-	2	178	c.173A>C	c.(172-174)aAg>aCg	p.K58T	LRIT2_ENST00000538192.1_Missense_Mutation_p.K58T	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	58						integral to membrane		p.K58T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TCTCACTTGCTTGAACTCTTC	0.418000													30	126					0	0	0.010818	0	0
KIF1B	23095	broad.mit.edu	37	1	10381906	10381906	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:10381906G>A	ENST00000377086.1	+	24	2551	c.2349G>A	c.(2347-2349)ctG>ctA	p.L783L	KIF1B_ENST00000377081.1_Silent_p.L783L|KIF1B_ENST00000263934.6_Silent_p.L737L			O60333	KIF1B_HUMAN	kinesin family member 1B	783					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GTGTGGAACTGAAAAAGAAGG	0.502000													15	60					0	0	0.004990	0	0
KLHL41	10324	broad.mit.edu	37	2	170367164	170367164	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:170367164G>A	ENST00000284669.1	+	1	953	c.876G>A	c.(874-876)ctG>ctA	p.L292L	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41									p.L292L(1)									CTGGTTACCTGAATGACATTC	0.478000													22	63					0	0	0.010504	0	0
NDST3	9348	broad.mit.edu	37	4	119163257	119163257	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:119163257G>C	ENST00000296499.5	+	12	2755	c.2352G>C	c.(2350-2352)caG>caC	p.Q784H		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	784	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.Q784H(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATGAAGTACAGAAGTTTCTAG	0.303000													46	146					0	0	0.014410	0	0
TRIM15	89870	broad.mit.edu	37	6	30139765	30139765	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:30139765C>G	ENST00000376694.4	+	7	1506	c.1037C>G	c.(1036-1038)tCc>tGc	p.S346C	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	346	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding	p.S346C(1)		large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GGCTTCTCCTCCGGGCGCCAC	0.706000													2	5					0	0	0.004672	0	0
FAM217B	63939	broad.mit.edu	37	20	58520007	58520007	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:58520007G>C	ENST00000358293.3	+	5	1424	c.1009G>C	c.(1009-1011)Gat>Cat	p.D337H	FAM217B_ENST00000360816.3_Missense_Mutation_p.D337H|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	337								p.D337H(1)									GGACTCAGCAGATTCCTGTAA	0.517000													17	54					0	0	0.004990	0	0
DRP2	1821	broad.mit.edu	37	X	100497935	100497935	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:100497935C>T	ENST00000395209.3	+	9	1545	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	DRP2_ENST00000541709.1_Missense_Mutation_p.R262W|DRP2_ENST00000538510.1_Missense_Mutation_p.R340W|DRP2_ENST00000402866.1_Missense_Mutation_p.R340W	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	340					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	p.R337W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGATGCCCACCGGGACTTTGG	0.512000													43	181					0	0	0.008740	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379015	204379015	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:204379015C>G	ENST00000367188.4	-	1	1904	c.1525G>C	c.(1525-1527)Gat>Cat	p.D509H	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	509					regulation of translation			p.D509H(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TTCTCTGAATCAGAAGGCTCT	0.463000													25	77					0	0	0.002780	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723268	58723268	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:58723268C>T	ENST00000300079.5	+	7	820	c.770C>T	c.(769-771)tCt>tTt	p.S257F	GLYATL1_ENST00000317391.4_Missense_Mutation_p.S226F|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	226						mitochondrion	glycine N-acyltransferase activity	p.S226F(1)|p.S257F(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ATGGACCCTTCTTGTGAAGTA	0.517000													20	44					0	0	0.008871	0	0
HLX	3142	broad.mit.edu	37	1	221053221	221053221	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:221053221C>T	ENST00000366903.6	+	1	1523	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	8					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P8S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CGGGCTGGCTCCCTTCTACGC	0.731000													5	9					0	0	0.000602	0	0
CNR1	1268	broad.mit.edu	37	6	88854856	88854856	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:88854856C>G	ENST00000537554.1	-	2	3700	c.138G>C	c.(136-138)caG>caC	p.Q46H	CNR1_ENST00000362094.5_Intron|CNR1_ENST00000369499.2_Missense_Mutation_p.Q46H|CNR1_ENST00000369501.2_Missense_Mutation_p.Q46H|CNR1_ENST00000468898.1_Intron|CNR1_ENST00000535130.1_Missense_Mutation_p.Q46H|CNR1_ENST00000549716.1_Intron|CNR1_ENST00000549890.1_Missense_Mutation_p.Q46H|CNR1_ENST00000428600.2_Missense_Mutation_p.Q46H	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	46					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.Q46H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AAGGGAATTTCTGTGGGAAGT	0.498000													37	94					0	0	0.003271	0	0
PSG3	5671	broad.mit.edu	37	19	43233301	43233301	+	Missense_Mutation	SNP	G	G	C	rs141177217	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:43233301G>C	ENST00000327495.5	-	5	1401	c.1217C>G	c.(1216-1218)tCc>tGc	p.S406C	PSG3_ENST00000595140.1_Missense_Mutation_p.S406C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	406	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.S406C(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CATGGATTTGGAGCTTTCCAT	0.473000													67	259					0	0	0.014410	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32833853	32833853	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:32833853C>T	ENST00000420878.3	-	5	1501	c.1046G>A	c.(1045-1047)aGa>aAa	p.R349K	ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.R349K	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	349					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R349K(1)		large_intestine(5)|lung(3)|urinary_tract(1)	9						ACTATGAATTCTCTGATGTCT	0.438000													33	138					0	0	0.013726	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506267	178506267	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:178506267G>T	ENST00000315475.6	+	5	1140	c.834G>T	c.(832-834)gaG>gaT	p.E278D		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E278D(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		ATGAATGTGAGAAGGCATTTA	0.403000													38	96					2.09667e-21	2.18509e-21	0.003755	1	0
SRD5A2	6716	broad.mit.edu	37	2	31805994	31805994	+	RNA	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:31805994C>T	ENST00000405650.1	-	0	142							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	CGCCGGTGGCCGCTGCCCTCC	0.706000													4	20					0	0	0.000602	0	0
DNAH8	1769	broad.mit.edu	37	6	38957823	38957823	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:38957823C>T	ENST00000359357.3	+	86	12692	c.12438C>T	c.(12436-12438)ttC>ttT	p.F4146F	DNAH8_ENST00000441566.1_Silent_p.F4110F					dynein, axonemal, heavy chain 8									p.F4146F(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACCGTCATTCTGCTTTTATA	0.363000													37	149					0	0	0.004289	0	0
ARL2BP	23568	broad.mit.edu	37	16	57283691	57283691	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:57283691G>A	ENST00000219204.3	+	4	490	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	RP11-407G23.3_ENST00000564376.1_RNA|ARL2BP_ENST00000562023.1_Splice_Site	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	74					maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction	centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle	protein binding|small GTPase regulator activity|transcription coactivator activity	p.E74K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						TTCTTTGGTAGAAAAATACAT	0.423000													21	118					0	0	0.012319	0	0
MYOC	4653	broad.mit.edu	37	1	171621260	171621260	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:171621260C>T	ENST00000037502.6	-	1	563	c.492G>A	c.(490-492)gaG>gaA	p.E164E		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response						anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.E164E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGCCAGATTCTCATTTTCTT	0.562000													106	414					0	0	0.014410	0	0
PALB2	79728	broad.mit.edu	37	16	23647411	23647411	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:23647411C>G	ENST00000261584.4	-	4	608	c.456G>C	c.(454-456)aaG>aaC	p.K152N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	152	Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.K152N(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAAATGTCCTCTTCTGCTGCT	0.443000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					4	136					0	0	0.009096	0	0
PTN	5764	broad.mit.edu	37	7	136936106	136936106	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:136936106C>T	ENST00000348225.2	-	4	749	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	PTN_ENST00000393083.2_Missense_Mutation_p.E108K	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	108					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.E108K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						AGGTCACATTCTCCCCAGGCC	0.507000													57	211					0	0	0.014410	0	0
C14orf39	317761	broad.mit.edu	37	14	60923747	60923747	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:60923747C>T	ENST00000321731.3	-	15	1405	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	416								p.E416K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GGAAAATTCTCAGCTCTCTCT	0.353000													47	158					0	0	0.014410	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111636995	111636995	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:111636995C>T	ENST00000527614.1	-	1	156	c.91G>A	c.(91-93)Gag>Aag	p.E31K	PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.E31K|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.E31K|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E31K|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.E31K	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	31							protein binding	p.E31K(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)		TTGCGGAGCTCGTCGATTAAA	0.637000													14	69					0	0	0.002450	0	0
PMPCB	9512	broad.mit.edu	37	7	102940661	102940661	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:102940661G>C	ENST00000249269.4	+	4	402	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	PMPCB_ENST00000420236.2_Missense_Mutation_p.E17Q|PMPCB_ENST00000428154.1_Missense_Mutation_p.E122Q	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	122					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	p.E122Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGGAACTTGAGATTGAAAA	0.388000													31	157					0	0	0.010818	0	0
WWC2	80014	broad.mit.edu	37	4	184233512	184233512	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:184233512G>C	ENST00000403733.3	+	22	3602	c.3403G>C	c.(3403-3405)Gag>Cag	p.E1135Q	WWC2_ENST00000504005.1_Missense_Mutation_p.E817Q|WWC2_ENST00000513834.1_Missense_Mutation_p.E1086Q|WWC2_ENST00000508747.1_Missense_Mutation_p.E263Q|WWC2_ENST00000448232.2_Missense_Mutation_p.E1159Q	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1135								p.E1135Q(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTCCAAAGAAGAGCAGAAGCA	0.478000													33	132					0	0	0.003755	0	0
C5orf54	63920	broad.mit.edu	37	5	159822236	159822236	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:159822236C>T	ENST00000408953.3	-	2	769	c.262G>A	c.(262-264)Gag>Aag	p.E88K	C5orf54_ENST00000523213.1_Missense_Mutation_p.E88K	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	88								p.E88K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						aaagtatcctcatgagatgca	0.423000													47	133					0	0	0.014410	0	0
PNMA1	9240	broad.mit.edu	37	14	74179622	74179622	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:74179622C>G	ENST00000316836.3	-	1	1506	c.721G>C	c.(721-723)Gag>Cag	p.E241Q		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	241					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	p.E241Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		ctagagctctcaacgctccca	0.512000													35	132					0	0	0.006999	0	0
TPP2	7174	broad.mit.edu	37	13	103298650	103298650	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:103298650G>A	ENST00000376052.3	+	20	2416	c.2400G>A	c.(2398-2400)gtG>gtA	p.V800V	TPP2_ENST00000376065.4_Silent_p.V800V			P29144	TPP2_HUMAN	tripeptidyl peptidase II	800					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	p.V800V(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAGCCCAGTGAGTGCAAAAA	0.338000													11	41					0	0	0.010729	0	0
COMMD2	51122	broad.mit.edu	37	3	149459490	149459490	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:149459490G>A	ENST00000473414.1	-	5	472	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	140	COMM.						protein binding	p.L140F(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGTTGCCTGAGACTTCTACTT	0.353000													23	214					0	0	0.002780	0	0
PCLO	27445	broad.mit.edu	37	7	82585375	82585375	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:82585375C>T	ENST00000333891.9	-	5	5231	c.4894G>A	c.(4894-4896)Gaa>Aaa	p.E1632K	PCLO_ENST00000423517.2_Missense_Mutation_p.E1632K	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E1632K(2)|p.E1563K(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						TCATCGTCTTCATCATGCCAT	0.428000													25	396					0	0	0.006320	0	0
ZBTB37	84614	broad.mit.edu	37	1	173839997	173839997	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:173839997C>G	ENST00000367701.5	+	2	825	c.634C>G	c.(634-636)Ctt>Gtt	p.L212V	ZBTB37_ENST00000427304.1_Missense_Mutation_p.L212V|ZBTB37_ENST00000367704.1_Missense_Mutation_p.L212V|ZBTB37_ENST00000432989.1_Missense_Mutation_p.L212V|ZBTB37_ENST00000367702.1_Missense_Mutation_p.L212V			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L212V(2)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GGAGCCCATTCTTCGGATCAA	0.532000													13	67					0	0	0.002450	0	0
IFRD1	3475	broad.mit.edu	37	7	112096062	112096062	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:112096062G>A	ENST00000403825.3	+	3	466	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	IFRD1_ENST00000429071.1_Missense_Mutation_p.E69K|IFRD1_ENST00000005558.4_Missense_Mutation_p.E69K|IFRD1_ENST00000535603.1_Missense_Mutation_p.E19K	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	69					multicellular organismal development|myoblast cell fate determination		binding	p.E69K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CTTAGGACCAGAAGTCCTTGA	0.368000													9	53					0	0	0.010729	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226054	79226054	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:79226054C>A	ENST00000374759.3	-	13	2269	c.1886G>T	c.(1885-1887)gGa>gTa	p.G629V	SLC38A10_ENST00000288439.5_Missense_Mutation_p.G629V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	629					amino acid transport|sodium ion transport	integral to membrane		p.G629V(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGCGGCGGTCCCCCCTTGGC	0.711000													20	64					7.45023e-12	7.70458e-12	0.010504	1	0
COL6A6	131873	broad.mit.edu	37	3	130290018	130290018	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:130290018G>A	ENST00000358511.6	+	6	2789	c.2758G>A	c.(2758-2760)Gat>Aat	p.D920N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D920N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	920	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen		p.D920N(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTGATCACCGATGGGGAATC	0.557000													15	68					0	0	0.003163	0	0
EXOSC5	56915	broad.mit.edu	37	19	41892596	41892596	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:41892596G>C	ENST00000221233.4	-	6	800	c.650C>G	c.(649-651)tCg>tGg	p.S217W	CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.S179W|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	217					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	p.S217W(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						GACGTGTTGCGAAGCGGCCTG	0.662000													5	9					0	0	0.000602	0	0
CYP4A22	284541	broad.mit.edu	37	1	47614449	47614449	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:47614449G>A	ENST00000371891.3	+	12	1571	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.E416K|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	514						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	p.E514K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAACCCTTGTGAAGACAAGGA	0.567000													5	87					0	0	0.000602	0	0
KCNA1	3736	broad.mit.edu	37	12	5020928	5020928	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:5020928G>A	ENST00000382545.3	+	2	1491	c.384G>A	c.(382-384)gaG>gaA	p.E128E	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	128					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.E128E(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGCCATGGAGAAGTTCCGGG	0.632000													18	77					0	0	0.006122	0	0
CHCHD3	54927	broad.mit.edu	37	7	132754904	132754904	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:132754904G>C	ENST00000262570.5	-	2	311	c.167C>G	c.(166-168)tCa>tGa	p.S56*	CHCHD3_ENST00000448878.1_Nonsense_Mutation_p.S56*|CHCHD3_ENST00000542753.1_Nonsense_Mutation_p.S56*|CHCHD3_ENST00000476546.1_Intron	NM_017812.2	NP_060282.1	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	56					inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold	p.S56*(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						AGCAATACCTGAGGCACCATA	0.378000													11	49					0	0	0.010729	0	0
BAG6	7917	broad.mit.edu	37	6	31609349	31609349	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:31609349G>A	ENST00000404765.2	-	18	2815	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	BAG6_ENST00000375976.4_Silent_p.I806I|BAG6_ENST00000362049.6_Silent_p.I806I|BAG6_ENST00000375964.6_Silent_p.I812I|BAG6_ENST00000439687.2_Silent_p.I680I|BAG6_ENST00000211379.5_Silent_p.I806I			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	812					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.I806I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTAGCCCCGTGATCAATGTGT	0.537000													62	112					0	0	0.014410	0	0
MED13	9969	broad.mit.edu	37	17	60072581	60072581	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:60072581C>T	ENST00000397786.2	-	10	2189	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	705					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.E705K(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGGAATTCCTCATCTCCTTCA	0.358000													51	118					0	0	0.014410	0	0
GLS2	27165	broad.mit.edu	37	12	56868840	56868840	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:56868840G>C	ENST00000311966.4	-	10	1262	c.984C>G	c.(982-984)ctC>ctG	p.L328L	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	328				LK -> HE (in Ref. 1; AAF21933).	cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	p.L328L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCTTTTCCTTGAGATAATAGC	0.502000													56	200					0	0	0.014410	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460711	66460711	+	Silent	SNP	C	C	T	rs146007976	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:66460711C>T	ENST00000533211.1	-	24	5131	c.4800G>A	c.(4798-4800)gcG>gcA	p.A1600A	SPTBN2_ENST00000309996.2_Silent_p.A1600A|SPTBN2_ENST00000529997.1_Silent_p.A1600A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1600					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.A1600A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCAGGCCTCCGCCTCGGCGG	0.622000													34	101					0	0	0.013726	0	0
RAD52	5893	broad.mit.edu	37	12	1025667	1025667	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:1025667G>A	ENST00000536177.1	-	9	843	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	RAD52_ENST00000539046.1_Intron|RAD52_ENST00000358495.3_Intron|RAD52_ENST00000430095.2_Intron|RAD52_ENST00000535376.1_5'UTR			P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	256					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			AGAGGGCGGCGGCGAGGACGG	0.697000								Homologous recombination					5	24					0	0	0.001168	0	0
TEP1	7011	broad.mit.edu	37	14	20841487	20841487	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:20841487G>A	ENST00000262715.5	-	47	6796	c.6756C>T	c.(6754-6756)ctC>ctT	p.L2252L	TEP1_ENST00000545983.1_Silent_p.L590L|TEP1_ENST00000556935.1_Silent_p.L2144L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2252					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.L2252L(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGGTCAGCATGAGGCCTGAGG	0.587000													38	113					0	0	0.004878	0	0
NOTCH2	4853	broad.mit.edu	37	1	120529700	120529700	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:120529700C>G	ENST00000256646.2	-	5	976	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	253	EGF-like 6.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.E253Q(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGCTCCCTTCAAAACCTGGT	0.453000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				17	63					0	0	0.004007	0	0
MALAT1	378938	broad.mit.edu	37	11	65268871	65268871	+	RNA	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65268871G>A	ENST00000534336.1	+	0	3639					NR_002819.2																						TTCTCACGTTGAGGTCTGTGG	0.403000													6	26					0	0	0.004482	0	0
GABRG1	2565	broad.mit.edu	37	4	46060556	46060556	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:46060556G>C	ENST00000295452.4	-	6	876	c.709C>G	c.(709-711)Cag>Gag	p.Q237E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	237					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.Q237E(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AATGCAAACTGATATAATCTC	0.353000													16	74					0	0	0.004990	0	0
SZT2	23334	broad.mit.edu	37	1	43893963	43893963	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:43893963G>A	ENST00000562955.1	+	27	3801	c.3801G>A	c.(3799-3801)ctG>ctA	p.L1267L	SZT2_ENST00000372442.1_Silent_p.L425L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1324						peroxisome		p.L425L(2)|p.L1267L(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGGATTTGCTGACAGCGGTAG	0.547000													23	74					0	0	0.002780	0	0
SVEP1	79987	broad.mit.edu	37	9	113231341	113231341	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:113231341G>C	ENST00000401783.2	-	17	3375	c.3039C>G	c.(3037-3039)ttC>ttG	p.F1013L	SVEP1_ENST00000374469.1_Missense_Mutation_p.F990L|SVEP1_ENST00000302728.8_Missense_Mutation_p.F1013L|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1013					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.F1013L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTTCACAGGTGAAATGTTCCA	0.438000													17	79					0	0	0.006122	0	0
HPSE	10855	broad.mit.edu	37	4	84231203	84231203	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:84231203C>G	ENST00000405413.2	-	7	1007	c.871G>C	c.(871-873)Gat>Cat	p.D291H	HPSE_ENST00000512196.1_Missense_Mutation_p.D291H|HPSE_ENST00000311412.5_Missense_Mutation_p.D291H|HPSE_ENST00000513463.1_Missense_Mutation_p.D233H	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	291				D -> G (in Ref. 9; BAD96706).	carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	p.D291H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GTAACTGAATCAATCACTTCT	0.308000													34	185					0	0	0.005524	0	0
MAP4K2	5871	broad.mit.edu	37	11	64564578	64564578	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:64564578C>T	ENST00000294066.2	-	19	1454	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	MAP4K2_ENST00000377350.3_Missense_Mutation_p.E447K	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	455					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E455K(2)		cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CCTCTTACCTCAGGATCCTCC	0.657000													9	62					0	0	0.008291	0	0
RIMS2	9699	broad.mit.edu	37	8	104987673	104987673	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:104987673C>G	ENST00000507740.1	+	13	2478	c.2242C>G	c.(2242-2244)Cat>Gat	p.H748D	RIMS2_ENST00000406091.3_Missense_Mutation_p.H956D|RIMS2_ENST00000436393.2_Missense_Mutation_p.H734D|RIMS2_ENST00000262231.10_Missense_Mutation_p.H795D	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1018	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.H1023D(1)|p.H956D(1)|p.H748D(1)|p.H734D(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGGTCTCCTCATCGAGTAGA	0.418000										HNSCC(12;0.0054)			14	64					0	0	0.004007	0	0
DLGAP1	9229	broad.mit.edu	37	18	3508616	3508616	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:3508616G>C	ENST00000315677.3	-	11	3118	c.2523C>G	c.(2521-2523)ctC>ctG	p.L841L	DLGAP1_ENST00000581699.1_Silent_p.L547L|DLGAP1_ENST00000400145.2_Silent_p.L539L|DLGAP1_ENST00000400150.3_Silent_p.L557L|DLGAP1_ENST00000581527.1_Silent_p.L841L|DLGAP1_ENST00000400147.2_Silent_p.L539L|DLGAP1_ENST00000515196.2_Silent_p.L841L|DLGAP1_ENST00000584874.1_Silent_p.L841L|DLGAP1_ENST00000534970.1_Silent_p.L525L|DLGAP1_ENST00000539435.1_Silent_p.L549L|DLGAP1_ENST00000400155.1_Silent_p.L547L|DLGAP1_ENST00000400149.3_Silent_p.L531L	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	841					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.L549L(1)|p.L841L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCTGGGCCATGAGAAGTTGGG	0.433000													15	60					0	0	0.006122	0	0
CCDC125	202243	broad.mit.edu	37	5	68616292	68616292	+	Translation_Start_Site	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:68616292C>A	ENST00000511257.1	-	0	144				CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.G26C|CCDC125_ENST00000383374.2_Missense_Mutation_p.G26C|CCDC125_ENST00000396496.2_Missense_Mutation_p.G26C			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125							cytoplasm		p.G26C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CCTAAATCACCTTCTGTCATG	0.433000													21	137					6.44725e-10	6.63812e-10	0.014323	1	0
NUP160	23279	broad.mit.edu	37	11	47858484	47858484	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:47858484G>A	ENST00000378460.2	-	6	943	c.897C>T	c.(895-897)atC>atT	p.I299I	NUP160_ENST00000528071.1_Silent_p.I185I|NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000530326.1_Silent_p.I185I	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	299					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.I299I(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ACAAAGCAAAGATGAAGGCAT	0.408000													19	95					0	0	0.006122	0	0
SEL1L	6400	broad.mit.edu	37	14	81950592	81950592	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:81950592C>G	ENST00000336735.4	-	19	2139	c.2023G>C	c.(2023-2025)Gag>Cag	p.E675Q		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	675	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	p.E675Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AGTCCTTTCTCATGCATATAT	0.393000													147	551					0	0	0.014410	0	0
ZFP57	346171	broad.mit.edu	37	6	29641179	29641179	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:29641179C>T	ENST00000376883.1	-	6	1060	c.649G>A	c.(649-651)Gac>Aac	p.D217N	ZFP57_ENST00000488757.1_Missense_Mutation_p.D237N|ZFP57_ENST00000376881.3_Missense_Mutation_p.D217N			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	153					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.D217N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TAGGTCTTGTCACAGAGCGTG	0.572000													28	95					0	0	0.005443	0	0
KRT31	3881	broad.mit.edu	37	17	39550344	39550344	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:39550344G>C	ENST00000251645.2	-	7	1227	c.1175C>G	c.(1174-1176)tCt>tGt	p.S392C		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	392	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.S392C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				AGGGACACAAGAGGTACAGGG	0.612000													33	108					0	0	0.010818	0	0
FNBP4	23360	broad.mit.edu	37	11	47752962	47752962	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:47752962C>G	ENST00000263773.5	-	12	1984	c.1972G>C	c.(1972-1974)Gat>Cat	p.D658H		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	658								p.D658H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GAATTTGAATCAGTGCCAGTT	0.373000													51	136					0	0	0.014410	0	0
RGAG1	57529	broad.mit.edu	37	X	109695177	109695177	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:109695177C>G	ENST00000465301.2	+	3	1578	c.1332C>G	c.(1330-1332)gtC>gtG	p.V444V	RGAG1_ENST00000540313.1_Silent_p.V444V	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	444								p.V444V(1)		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						TGATGACAGTCCCAAGCTCTG	0.512000													60	239					0	0	0.014410	0	0
ALOX15	246	broad.mit.edu	37	17	4544957	4544957	+	Translation_Start_Site	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4544957G>C	ENST00000570836.1	-	0	86				ALOX15_ENST00000293761.3_De_novo_Start_OutOfFrame|ALOX15_ENST00000574640.1_De_novo_Start_OutOfFrame|ALOX15_ENST00000545513.1_Missense_Mutation_p.S19C			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase						inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CTTGCTCAAAGATGTTTCGCT	0.612000													15	52					0	0	0.002450	0	0
OR10A5	144124	broad.mit.edu	37	11	6867346	6867346	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:6867346C>G	ENST00000299454.4	+	1	464	c.433C>G	c.(433-435)Ctg>Gtg	p.L145V	OR10A5_ENST00000379831.2_Missense_Mutation_p.L149V			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L145V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACGGGCCAAACTGGCTGCTGC	0.527000													34	174					0	0	0.014410	0	0
CCDC86	79080	broad.mit.edu	37	11	60610305	60610305	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:60610305G>A	ENST00000227520.5	+	1	762	c.708G>A	c.(706-708)ccG>ccA	p.P236P	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	236					interspecies interaction between organisms	nucleus		p.P236P(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CTGTAATCCCGAAGGGGAAGC	0.567000													9	35					0	0	0.008291	0	0
UPF2	26019	broad.mit.edu	37	10	11994206	11994206	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:11994206C>G	ENST00000356352.2	-	14	3366	c.2893G>C	c.(2893-2895)Gac>Cac	p.D965H	UPF2_ENST00000357604.5_Missense_Mutation_p.D965H|UPF2_ENST00000397053.2_Missense_Mutation_p.D965H			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	965	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	p.D965H(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AATGGATGGTCTTTTGTCCAA	0.308000													23	80					0	0	0.012319	0	0
MUC17	140453	broad.mit.edu	37	7	100695124	100695124	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:100695124C>T	ENST00000306151.4	+	9	13048	c.12984C>T	c.(12982-12984)ttC>ttT	p.F4328F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4328						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.F4328F(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)					GAGACTACTTCGTAGTGGAGT	0.587000													41	116					0	0	0.006230	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593786	101593786	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:101593786C>G	ENST00000310954.6	-	7	1420	c.1134G>C	c.(1132-1134)ttG>ttC	p.L378F		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	378					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.L378F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CATTCTTCATCAAATTCTAAA	0.274000													23	55					0	0	0.002780	0	0
PI16	221476	broad.mit.edu	37	6	36930731	36930731	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:36930731G>A	ENST00000373674.3	+	5	941	c.613G>A	c.(613-615)Gat>Aat	p.D205N		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	205						extracellular region|integral to membrane	peptidase inhibitor activity	p.D205N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCCCGGAAGATGCTCAGGA	0.542000													25	55					0	0	0.003954	0	0
DLL4	54567	broad.mit.edu	37	15	41229093	41229093	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:41229093G>C	ENST00000249749.5	+	9	2184	c.1908G>C	c.(1906-1908)aaG>aaC	p.K636N		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	636					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	p.K636N(1)		breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAGTGACAAGAGCTTAGGAG	0.612000													8	25					0	0	0.006214	0	0
RPL10	6134	broad.mit.edu	37	X	153629109	153629109	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:153629109G>A	ENST00000424325.2	+	7	747	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	RPL10_ENST00000406022.2_Missense_Mutation_p.E136K|RPL10_ENST00000369817.2_Missense_Mutation_p.E187K	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	187					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	p.E187K(1)		large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CATGGTGGCTGAAAAGCGGCT	0.527000													10	37					0	0	0.008291	0	0
USP28	57646	broad.mit.edu	37	11	113697974	113697974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:113697974G>A	ENST00000003302.4	-	11	1236	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*	USP28_ENST00000545540.1_Nonsense_Mutation_p.Q265*|USP28_ENST00000260188.5_Nonsense_Mutation_p.Q390*|USP28_ENST00000537706.1_Nonsense_Mutation_p.Q390*|USP28_ENST00000544967.1_Nonsense_Mutation_p.Q98*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	390					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q390*(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TAAATAATCTGAGGAAATTCC	0.398000													14	70					0	0	0.002450	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99519006	99519006	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:99519006G>C	ENST00000393677.4	+	13	1389	c.1185G>C	c.(1183-1185)caG>caC	p.Q395H	ZFYVE27_ENST00000370613.3_Missense_Mutation_p.Q270H|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.Q400H|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.Q295H|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.Q356H|ZFYVE27_ENST00000477521.1_3'UTR|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.Q302H|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.Q388H|ZFYVE27_ENST00000453958.2_3'UTR	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	395					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	p.Q400H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CTGAAGCCCAGAGGGAGACTG	0.557000											OREG0020422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	85					0	0	0.003080	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77492255	77492255	+	Silent	SNP	G	G	C	rs142866521		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:77492255G>C	ENST00000238647.3	-	1	2779	c.1881C>G	c.(1879-1881)ctC>ctG	p.L627L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	627						nucleus		p.L627L(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CCACCGACATGAGAGCGGCCA	0.682000													6	20					0	0	0.001168	0	0
SNRNP200	23020	broad.mit.edu	37	2	96952861	96952861	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:96952861G>A	ENST00000323853.5	-	27	3599	c.3522C>T	c.(3520-3522)atC>atT	p.I1174I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1174	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.I1174I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CATATTTGTGGATGGTCTTCC	0.537000													58	149					0	0	0.014410	0	0
SFPQ	6421	broad.mit.edu	37	1	35654606	35654606	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:35654606C>G	ENST00000357214.5	-	6	1793	c.1695G>C	c.(1693-1695)ttG>ttC	p.L565F		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	565					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding	p.L565F(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AATTTTACCTCAATTGCATTT	0.383000			T	TFE3	papillary renal cell								3	46					0	0	0.004672	0	0
ABCA10	10349	broad.mit.edu	37	17	67187420	67187420	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:67187420G>C	ENST00000269081.4	-	18	2817	c.1908C>G	c.(1906-1908)atC>atG	p.I636M	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	636					transport	integral to membrane	ATP binding|ATPase activity	p.I636M(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TAAGGGATGTGATTTTTTCTG	0.338000													23	68					0	0	0.014323	0	0
ZNF845	91664	broad.mit.edu	37	19	53855026	53855026	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:53855026C>G	ENST00000458035.1	+	4	1215	c.1098C>G	c.(1096-1098)ttC>ttG	p.F366L	ZNF845_ENST00000595091.1_Missense_Mutation_p.F366L	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F366L(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTTCAGTTTCAAATCAAACC	0.398000													24	71					0	0	0.003330	0	0
PIDD	55367	broad.mit.edu	37	11	804358	804358	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:804358C>G	ENST00000347755.5	-	2	172	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	PIDD_ENST00000411829.2_Missense_Mutation_p.E11Q|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	11					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	p.E11Q(1)									GCAGCTGCCTCCAGCTCTGGC	0.687000													8	22					0	0	0.001855	0	0
FBXW7	55294	broad.mit.edu	37	4	153249501	153249501	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:153249501G>A	ENST00000281708.4	-	9	2506	c.1277C>T	c.(1276-1278)tCa>tTa	p.S426L	FBXW7_ENST00000296555.5_Missense_Mutation_p.S308L|FBXW7_ENST00000603548.1_Missense_Mutation_p.S426L|FBXW7_ENST00000603841.1_Missense_Mutation_p.S426L|FBXW7_ENST00000393956.3_Missense_Mutation_p.S250L|FBXW7_ENST00000263981.5_Missense_Mutation_p.S346L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	426					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.S426L(2)|p.S308L(1)|p.S187L(1)|p.S346L(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CATTTGTGATGACCATACTCC	0.378000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								67	229					0	0	0.014410	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518306	45518306	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:45518306C>G	ENST00000291574.4	+	21	3412	c.3237C>G	c.(3235-3237)ctC>ctG	p.L1079L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1079					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.L1079L(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						CAGGCTCCCTCTGCTCCCTGG	0.473000													54	188					0	0	0.014410	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744044	31744044	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:31744044C>G	ENST00000399889.2	-	1	513	c.488G>C	c.(487-489)aGa>aCa	p.R163T		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	163						intermediate filament		p.R163T(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						ATAGGCTGGTCTGTAACAAGG	0.493000													12	47					0	0	0.006122	0	0
BSN	8927	broad.mit.edu	37	3	49690134	49690134	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:49690134G>C	ENST00000296452.4	+	5	3259	c.3145G>C	c.(3145-3147)Gaa>Caa	p.E1049Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1049					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.E1049Q(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTGCGGGAGGAAGAGGAGCT	0.652000													8	29					0	0	0.003080	0	0
HUWE1	10075	broad.mit.edu	37	X	53587226	53587226	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:53587226C>T	ENST00000342160.3	-	55	8116	c.7659G>A	c.(7657-7659)ctG>ctA	p.L2553L	HUWE1_ENST00000262854.6_Silent_p.L2553L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2553					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.L2553L(1)|p.L2416L(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TATTGGCCGTCAGCTGCCTTA	0.562000													8	27					0	0	0.013537	0	0
PEX26	55670	broad.mit.edu	37	22	18566266	18566266	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:18566266C>T	ENST00000329627.7	+	4	641	c.435C>T	c.(433-435)ctC>ctT	p.L145L	PEX26_ENST00000428061.2_Silent_p.L145L|PEX26_ENST00000399744.3_Silent_p.L145L	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26						protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding	p.L145L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTGCCTGGCTCCAAGACCCAG	0.527000													45	175					0	0	0.008740	0	0
KAT2B	8850	broad.mit.edu	37	3	20082225	20082225	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:20082225C>G	ENST00000263754.4	+	1	711	c.256C>G	c.(256-258)Ccg>Gcg	p.P86A	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	86					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	p.P86A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						ACGCTCCGCTCCGCGGGCCAA	0.706000													4	27					0	0	0.000602	0	0
C9orf96	169436	broad.mit.edu	37	9	136266896	136266896	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:136266896C>T	ENST00000371957.3	+	13	1335	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	C9orf96_ENST00000371955.1_Intron	NM_153710.3	NP_714921.4	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	410							ATP binding|protein kinase activity	p.P410S(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGCCAAGGCTCCCTGCAACCA	0.622000													14	37					0	0	0.001855	0	0
ASXL2	55252	broad.mit.edu	37	2	25976464	25976464	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:25976464C>G	ENST00000435504.4	-	11	1374	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q	ASXL2_ENST00000404843.1_Missense_Mutation_p.E101Q|ASXL2_ENST00000336112.4_Missense_Mutation_p.E333Q|ASXL2_ENST00000272341.4_Missense_Mutation_p.E101Q			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.E101Q(1)|p.E361Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCCTTCTCAATCTCTTGT	0.363000													54	240					0	0	0.014410	0	0
KCNS2	3788	broad.mit.edu	37	8	99440510	99440510	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:99440510C>A	ENST00000287042.4	+	2	653	c.303C>A	c.(301-303)ttC>ttA	p.F101L	KCNS2_ENST00000521839.1_Missense_Mutation_p.F101L	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	101						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F101L(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCTTCTCCTTCAGCCAGGAGA	0.537000													38	122					1.62957e-23	1.70208e-23	0.008740	1	0
FRK	2444	broad.mit.edu	37	6	116264315	116264315	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:116264315C>T	ENST00000606080.1	-	7	1620	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	FRK_ENST00000538210.1_Missense_Mutation_p.E250K	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	392	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E392K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AGCTTTATTTCGTGTCTAGAT	0.378000													18	52					0	0	0.012319	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349402	36349402	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:36349402G>A	ENST00000360202.5	+	3	502	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	KIRREL2_ENST00000347900.6_Missense_Mutation_p.E52K|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.E102K|KIRREL2_ENST00000262625.7_Missense_Mutation_p.E102K	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	102	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane		p.E102K(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCATCATATGAATGTCAGGC	0.592000													20	98					0	0	0.008871	0	0
ARMC4	55130	broad.mit.edu	37	10	28151455	28151455	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:28151455C>T	ENST00000305242.5	-	18	2799	c.2707G>A	c.(2707-2709)Gct>Act	p.A903T	ARMC4_ENST00000537576.1_Missense_Mutation_p.A595T|ARMC4_ENST00000545014.1_Missense_Mutation_p.A428T	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	903							binding	p.A903T(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTAATGGCAGCACATACACTT	0.373000													29	96					0	0	0.005443	0	0
ITPR3	3710	broad.mit.edu	37	6	33661456	33661456	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:33661456G>C	ENST00000374316.5	+	57	8819	c.7759G>C	c.(7759-7761)Gag>Cag	p.E2587Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.E2587Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2587					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.E2587Q(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CACGGGCCCTGAGAGCTACGT	0.552000													18	25					0	0	0.008871	0	0
HTT	3064	broad.mit.edu	37	4	3208288	3208288	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:3208288C>T	ENST00000355072.5	+	43	5929	c.5784C>T	c.(5782-5784)atC>atT	p.I1928I		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1928					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.I1928I(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAGATCTGATCAGCCTTTCCC	0.473000													25	112					0	0	0.002780	0	0
USP47	55031	broad.mit.edu	37	11	11942014	11942014	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:11942014G>A	ENST00000339865.5	+	9	1750	c.987G>A	c.(985-987)atG>atA	p.M329I	USP47_ENST00000527733.1_Missense_Mutation_p.M397I|USP47_ENST00000399455.2_Missense_Mutation_p.M417I|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	417					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	p.M329I(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AACTAGATATGAGTACTTTTA	0.318000													32	86					0	0	0.013726	0	0
KDM2B	84678	broad.mit.edu	37	12	121882022	121882022	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:121882022G>C	ENST00000377069.4	-	16	2557	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L	KDM2B_ENST00000377071.4_Silent_p.L748L|KDM2B_ENST00000542973.1_Silent_p.L116L|KDM2B_ENST00000536437.1_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	748					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.L748L(1)|p.L387L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTGCTCCTTGAGCAGGGAGC	0.572000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	90					0	0	0.004289	0	0
ZNF335	63925	broad.mit.edu	37	20	44577600	44577600	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:44577600C>T	ENST00000322927.2	-	28	4121	c.4021G>A	c.(4021-4023)Gat>Aat	p.D1341N	ZNF335_ENST00000426788.1_Missense_Mutation_p.D1186N	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D1341N(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCTCAGTCATCGGCCAGGGTG	0.607000													23	68					0	0	0.003954	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536544	27536544	+	RNA	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:27536544C>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GCAGCGTTCTCTGCAAATGCC	0.542000													14	56					0	0	0.004990	0	0
PRELP	5549	broad.mit.edu	37	1	203453266	203453266	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:203453266C>G	ENST00000343110.2	+	2	1081	c.954C>G	c.(952-954)ctC>ctG	p.L318L		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	318					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.L318L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTGTACCTCAACAACAATA	0.562000													13	55					0	0	0.003163	0	0
ASS1	445	broad.mit.edu	37	9	133327632	133327632	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:133327632C>T	ENST00000372394.1	+	3	498	c.17C>T	c.(16-18)tCc>tTc	p.S6F	ASS1_ENST00000372393.3_Missense_Mutation_p.S6F|ASS1_ENST00000352480.5_Missense_Mutation_p.S6F			P00966	ASSY_HUMAN	argininosuccinate synthase 1	6					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	p.S6F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	AGCAAAGGCTCCGTGGTTCTG	0.627000													5	23					0	0	0.001855	0	0
GRIA4	2893	broad.mit.edu	37	11	105789548	105789548	+	Missense_Mutation	SNP	C	C	G	rs145685023		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:105789548C>G	ENST00000393127.2	+	11	1826	c.1380C>G	c.(1378-1380)atC>atG	p.I460M	GRIA4_ENST00000530497.1_Missense_Mutation_p.I460M|GRIA4_ENST00000282499.5_Missense_Mutation_p.I460M|GRIA4_ENST00000525187.1_Missense_Mutation_p.I460M	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	460					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.I460M(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATATTGGTATCAAGTATAAAA	0.353000													20	53					0	0	0.007413	0	0
PADI3	51702	broad.mit.edu	37	1	17575710	17575710	+	Silent	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:17575710C>A	ENST00000375460.3	+	1	118	c.78C>A	c.(76-78)ctC>ctA	p.L26L		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	26					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.L26L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGAGACCCTCGTGGACATTT	0.602000													17	105					6.94344e-10	7.14118e-10	0.006122	1	0
PRF1	5551	broad.mit.edu	37	10	72360406	72360406	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:72360406G>C	ENST00000441259.1	-	2	413	c.253C>G	c.(253-255)Ctc>Gtc	p.L85V	PRF1_ENST00000373209.2_Missense_Mutation_p.L85V	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	85	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	p.L85V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGGCGCTGGAGGGTGCCCTCC	0.667000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				3	28					0	0	0.001168	0	0
EIF3L	51386	broad.mit.edu	37	22	38273809	38273809	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:38273809G>C	ENST00000412331.2	+	11	1788	c.1206G>C	c.(1204-1206)caG>caC	p.Q402H	EIF3L_ENST00000406934.1_Missense_Mutation_p.Q304H|EIF3L_ENST00000381683.6_Missense_Mutation_p.Q354H	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	402						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.Q402H(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGCGCATGCAGAAAGGTGACC	0.517000													25	80					0	0	0.004656	0	0
ATP2B4	493	broad.mit.edu	37	1	203693027	203693027	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:203693027G>C	ENST00000357681.5	+	19	4166	c.3043G>C	c.(3043-3045)Ggg>Cgg	p.G1015R	ATP2B4_ENST00000367219.3_Missense_Mutation_p.G1003R|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G1015R|ATP2B4_ENST00000367218.3_Missense_Mutation_p.G1015R|ATP2B4_ENST00000391954.2_Intron	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1015					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.G1015R(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CGTGGAATTTGGGGGTAAACC	0.542000													24	65					0	0	0.004656	0	0
ROS1	6098	broad.mit.edu	37	6	117718277	117718277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:117718277G>A	ENST00000368508.3	-	7	778	c.580C>T	c.(580-582)Cct>Tct	p.P194S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P203S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	194	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P194S(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCAGTTTCAGGAACTGGAAGA	0.388000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								22	86					0	0	0.010504	0	0
LAMC3	10319	broad.mit.edu	37	9	133907468	133907468	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:133907468G>A	ENST00000361069.4	+	3	848	c.715G>A	c.(715-717)Gac>Aac	p.D239N	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	239	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity	p.D239N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CATCTCTCTAGACCGGCTCAA	0.567000													36	207					0	0	0.004878	0	0
OR8B8	26493	broad.mit.edu	37	11	124310898	124310898	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:124310898G>A	ENST00000328064.2	-	1	156	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F28F(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAAACAGGAAGAAGAGGGGGA	0.502000													13	77					0	0	0.001855	0	0
SGPP2	130367	broad.mit.edu	37	2	223389719	223389719	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:223389719C>T	ENST00000321276.7	+	4	701	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	205					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	p.L205L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TGGTGTGTCTCAGCAGGCTCT	0.473000													15	64					0	0	0.004007	0	0
TAC1	6863	broad.mit.edu	37	7	97362036	97362036	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:97362036G>T	ENST00000319273.5	+	2	409	c.112G>T	c.(112-114)Gac>Tac	p.D38Y	TAC1_ENST00000346867.4_Missense_Mutation_p.D38Y|TAC1_ENST00000350485.4_Missense_Mutation_p.D38Y	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	38					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		p.D38Y(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	GTACGACAGCGACCAGATCAA	0.557000													24	69					1.1804e-14	1.22746e-14	0.003954	1	0
MACF1	23499	broad.mit.edu	37	1	39797236	39797236	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:39797236G>C	ENST00000564288.1	+	37	5753	c.4976G>C	c.(4975-4977)gGa>gCa	p.G1659A	MACF1_ENST00000372915.3_Missense_Mutation_p.G1664A|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G99A|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.G1696A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1664					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.G99A(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGCAACTGGAGGTTTCAGT	0.433000													29	114					0	0	0.010818	0	0
KCNK2	3776	broad.mit.edu	37	1	215256745	215256745	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:215256745C>G	ENST00000444842.2	+	1	167	c.17C>G	c.(16-18)tCg>tGg	p.S6W	KCNK2_ENST00000391894.2_Intron|KCNK2_ENST00000391895.2_Intron	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	6							outward rectifier potassium channel activity	p.S6W(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CCCAGCGCCTCGCGGGAGAGA	0.547000													25	90					0	0	0.006320	0	0
DUSP14	11072	broad.mit.edu	37	17	35872727	35872727	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:35872727C>G	ENST00000487847.1	+	2	1331	c.353C>G	c.(352-354)tCa>tGa	p.S118*	DUSP14_ENST00000394386.1_Nonsense_Mutation_p.S118*|DUSP14_ENST00000394389.4_Nonsense_Mutation_p.S118*			O95147	DUS14_HUMAN	dual specificity phosphatase 14	118	Tyrosine-protein phosphatase.						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.S118*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				GTGAGCCGCTCAGCCACGCTG	0.592000													13	63					0	0	0.003163	0	0
RP1L1	94137	broad.mit.edu	37	8	10466192	10466192	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:10466192G>C	ENST00000382483.3	-	4	5639	c.5416C>G	c.(5416-5418)Caa>Gaa	p.Q1806E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1806					intracellular signal transduction			p.Q1806E(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAGAGCCTTGACCCCCAGTT	0.587000													80	308					0	0	0.014410	0	0
MRPS2	51116	broad.mit.edu	37	9	138395832	138395832	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:138395832C>G	ENST00000371785.1	+	5	953	c.744C>G	c.(742-744)ctC>ctG	p.L248L	RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000241600.5_Silent_p.L248L			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	248					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	p.L248L(1)		large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CTGTGCACCTCTACTGCAGGC	0.632000													30	113					0	0	0.012213	0	0
LRRC8B	23507	broad.mit.edu	37	1	90049431	90049431	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:90049431G>C	ENST00000330947.2	+	5	1582	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	LRRC8B_ENST00000358200.4_Missense_Mutation_p.E408Q|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Missense_Mutation_p.E408Q	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	408						integral to membrane		p.E408Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		ATGGACAGTTGAGAAACTGAA	0.383000													22	89					0	0	0.012319	0	0
KLHL40	131377	broad.mit.edu	37	3	42730464	42730464	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:42730464G>A	ENST00000287777.4	+	4	1625	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N		NM_152393.2	NP_689606.2			kelch-like family member 40									p.D509N(1)									CACTGTCCATGATGGCCGCAT	0.557000													19	55					0	0	0.014323	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119101938	119101938	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:119101938G>C	ENST00000264245.4	+	6	1079	c.547G>C	c.(547-549)Gaa>Caa	p.E183Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	183	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.E183Q(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TAGGTCTAAAGAAATTGAAGC	0.463000													22	145					0	0	0.002780	0	0
FNDC9	408263	broad.mit.edu	37	5	156770349	156770349	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:156770349G>C	ENST00000312349.4	-	2	383	c.196C>G	c.(196-198)Ctt>Gtt	p.L66V	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000318218.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	66	Fibronectin type-III.					integral to membrane		p.L66V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GAAGGGGCAAGATGTTCCAGC	0.547000													24	92					0	0	0.002780	0	0
ZNF507	22847	broad.mit.edu	37	19	32844356	32844356	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:32844356G>T	ENST00000311921.4	+	2	812	c.620G>T	c.(619-621)aGa>aTa	p.R207I	ZNF507_ENST00000544431.1_Missense_Mutation_p.R207I|ZNF507_ENST00000355898.5_Missense_Mutation_p.R207I	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R207I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ACCACAGAAAGAAATGAAACC	0.458000													24	64					3.5997e-14	3.73081e-14	0.014323	1	0
ARMC9	80210	broad.mit.edu	37	2	232141419	232141419	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:232141419G>A	ENST00000349938.4	+	15	1599	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	469							binding	p.D469N(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GAAGGACCCTGACTGCCTGTC	0.557000													47	159					0	0	0.014410	0	0
TAF7L	54457	broad.mit.edu	37	X	100537423	100537423	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:100537423C>T	ENST00000372907.3	-	5	567	c.556G>A	c.(556-558)Gat>Aat	p.D186N	TAF7L_ENST00000356784.1_Missense_Mutation_p.D100N|TAF7L_ENST00000372905.2_Missense_Mutation_p.D100N|TAF7L_ENST00000324762.6_Missense_Mutation_p.D100N	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	186					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	p.D186N(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ATATCACCATCAGCAGTGCAC	0.393000													18	87					0	0	0.006122	0	0
INF2	64423	broad.mit.edu	37	14	105169764	105169764	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:105169764C>T	ENST00000392634.4	+	4	752	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	INF2_ENST00000330634.7_Missense_Mutation_p.R214C|INF2_ENST00000398337.4_Missense_Mutation_p.R214C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	214	GBD/FH3.		R -> H (in FSGS5).		actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	p.R214C(3)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCTGCGCGCGCGCACCCAGCT	0.652000													28	130					0	0	0.007291	0	0
NIN	51199	broad.mit.edu	37	14	51204915	51204915	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:51204915C>T	ENST00000245441.5	-	27	5908	c.5718G>A	c.(5716-5718)ttG>ttA	p.L1906L	NIN_ENST00000382043.4_Silent_p.L1193L|NIN_ENST00000382041.3_Silent_p.L1906L|NIN_ENST00000530997.2_Silent_p.L1906L|NIN_ENST00000389868.3_Silent_p.L1193L|NIN_ENST00000453196.1_Silent_p.L1906L|NIN_ENST00000324330.9_Silent_p.L1906L	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1906					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	p.L1906L(2)|p.L1912L(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCTTTAAGCTCAATTTTTCTT	0.413000			T	PDGFRB	MPD								46	146					0	0	0.010771	0	0
MED14	9282	broad.mit.edu	37	X	40568682	40568682	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:40568682C>G	ENST00000324817.1	-	10	1321	c.1203G>C	c.(1201-1203)ctG>ctC	p.L401L		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	401	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L401L(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTGTCAATCAGGAGTTTTT	0.353000													13	73					0	0	0.002450	0	0
CCR7	1236	broad.mit.edu	37	17	38711549	38711549	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:38711549G>C	ENST00000246657.2	-	3	644	c.582C>G	c.(580-582)ctC>ctG	p.L194L	CCR7_ENST00000579344.1_Silent_p.L188L	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	194					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	p.L194L(1)		breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CACTGTACAGGAGCTCTGGGA	0.582000													20	34					0	0	0.012319	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10221062	10221062	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:10221062G>A	ENST00000428358.1	+	9	1057	c.885G>A	c.(883-885)gtG>gtA	p.V295V	PPAN-P2RY11_ENST00000393796.4_Silent_p.V295V|PPAN_ENST00000393793.1_Silent_p.V242V|PPAN_ENST00000556468.1_Silent_p.V295V|PPAN_ENST00000253107.7_Silent_p.V295V	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		295					RNA splicing	nucleolus	protein binding	p.V295V(2)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			AGGGCAAAGTGATGTTCCACA	0.657000													14	31					0	0	0.003163	0	0
TTLL5	23093	broad.mit.edu	37	14	76249706	76249706	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:76249706C>T	ENST00000298832.9	+	26	3024	c.2819C>T	c.(2818-2820)tCt>tTt	p.S940F	TTLL5_ENST00000557636.1_Missense_Mutation_p.S954F|TTLL5_ENST00000554510.1_Missense_Mutation_p.S449F|TTLL5_ENST00000556893.1_Missense_Mutation_p.S491F	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	940					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	p.S940F(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AACACAGTCTCTGCCAGTGCT	0.537000													25	90					0	0	0.003330	0	0
KALRN	8997	broad.mit.edu	37	3	123987800	123987800	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:123987800G>A	ENST00000360013.3	+	5	788	c.661G>A	c.(661-663)Gag>Aag	p.E221K	KALRN_ENST00000460856.1_Missense_Mutation_p.E221K|KALRN_ENST00000240874.3_Missense_Mutation_p.E221K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	221					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.E221K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGTGGATGTGGAGGGCTCTCG	0.627000													30	26					0	0	0.007291	0	0
AOC4P	90586	broad.mit.edu	37	17	41020753	41020753	+	RNA	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:41020753C>G	ENST00000585538.1	+	0	1592					NR_002773.1																						CCATAGAAATCAGACTCCACA	0.522000													6	29					0	0	0.006214	0	0
TK1	7083	broad.mit.edu	37	17	76171139	76171139	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:76171139C>T	ENST00000588734.1	-	6	743	c.505G>A	c.(505-507)Gag>Aag	p.E169K	TK1_ENST00000590430.1_3'UTR|TK1_ENST00000590862.1_Missense_Mutation_p.E169K|TK1_ENST00000301634.7_Missense_Mutation_p.E169K|TK1_ENST00000405273.1_Missense_Mutation_p.E169K			P04183	KITH_HUMAN	thymidine kinase 1, soluble	169					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding	p.E169K(2)		endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			ACCTCCTTCTCTGTGCCGAGC	0.657000													12	18					0	0	0.001855	0	0
FAM155A	728215	broad.mit.edu	37	13	108518440	108518440	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:108518440C>T	ENST00000375915.2	-	1	643	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	169						integral to membrane	binding	p.E169K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TAACAAGTCTCCAGGCGCCAC	0.697000													16	66					0	0	0.004007	0	0
RSPRY1	89970	broad.mit.edu	37	16	57269112	57269112	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:57269112G>A	ENST00000537866.1	+	14	2479	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N	RSPRY1_ENST00000394420.4_Missense_Mutation_p.D536N|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	536						extracellular region	zinc ion binding	p.D536N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGAGGTAGCAGACACACAATT	0.423000													12	43					0	0	0.002450	0	0
TULP4	56995	broad.mit.edu	37	6	158834155	158834155	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:158834155G>A	ENST00000367097.3	+	2	1668	c.311G>A	c.(310-312)gGa>gAa	p.G104E	TULP4_ENST00000367094.2_Missense_Mutation_p.G104E	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	104					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.G104E(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GATGCGGACGGAGGCATATTC	0.562000													14	33					0	0	0.003163	0	0
CD1E	913	broad.mit.edu	37	1	158323802	158323802	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:158323802C>G	ENST00000444681.2	+	1	317	c.24C>G	c.(22-24)ttC>ttG	p.F8L	CD1E_ENST00000368157.1_Missense_Mutation_p.F8L|CD1E_ENST00000368166.3_Missense_Mutation_p.F8L|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.F8L|CD1E_ENST00000368164.3_Missense_Mutation_p.F8L|CD1E_ENST00000368154.1_Missense_Mutation_p.F8L|CD1E_ENST00000368156.1_Missense_Mutation_p.F8L|CD1E_ENST00000368161.3_Missense_Mutation_p.F8L|CD1E_ENST00000368160.3_Missense_Mutation_p.F8L|CD1E_ENST00000368163.3_Missense_Mutation_p.F8L|CD1E_ENST00000368167.3_Missense_Mutation_p.F8L|CD1E_ENST00000368155.3_Missense_Mutation_p.F8L|CD1E_ENST00000368165.3_Missense_Mutation_p.F8L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	8					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.F8L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCCTCCTCTTCGAGGGTCTCT	0.522000													17	72					0	0	0.010504	0	0
MARCH11	441061	broad.mit.edu	37	5	16177875	16177875	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:16177875C>T	ENST00000332432.8	-	2	852	c.653G>A	c.(652-654)aGa>aAa	p.R218K	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	218						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	p.R218K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AACATGGTATCTATAACAGCA	0.398000													13	51					0	0	0.001855	0	0
ITPR3	3710	broad.mit.edu	37	6	33660624	33660624	+	Silent	SNP	G	G	A	rs149058562		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:33660624G>A	ENST00000374316.5	+	56	8638	c.7578G>A	c.(7576-7578)gaG>gaA	p.E2526E	ITPR3_ENST00000605930.1_Silent_p.E2526E			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2526					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.E2526E(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGCGTAGTGAGAAGCAGAAGA	0.522000													41	64					0	0	0.006999	0	0
GLRA1	2741	broad.mit.edu	37	5	151231107	151231107	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:151231107C>G	ENST00000274576.4	-	7	1048	c.756G>C	c.(754-756)ctG>ctC	p.L252L	GLRA1_ENST00000545569.1_Silent_p.L169L|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Silent_p.L252L	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	252					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	p.L252L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACATCTGAATCAGGTAGTAAC	0.512000													20	88					0	0	0.008871	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460506	113460506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:113460506C>T	ENST00000538576.1	-	4	1353	c.522G>A	c.(520-522)tgG>tgA	p.W174*	SLC16A1_ENST00000433570.4_Nonsense_Mutation_p.W174*|SLC16A1_ENST00000369626.3_Nonsense_Mutation_p.W174*	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	174					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.W174*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AGCTTCCTCTCCATCCAAAGA	0.557000													21	73					0	0	0.008871	0	0
ERN2	10595	broad.mit.edu	37	16	23706204	23706204	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:23706204C>G	ENST00000256797.4	-	17	2257	c.2089G>C	c.(2089-2091)Gac>Cac	p.D697H	ERN2_ENST00000457008.2_Missense_Mutation_p.D597H	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	649	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	p.D697H(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCTGGCTGTCAGGCCCGGTG	0.627000													15	48					0	0	0.003163	0	0
C6orf222	389384	broad.mit.edu	37	6	36298201	36298201	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:36298201C>G	ENST00000437635.2	-	2	444	c.267G>C	c.(265-267)caG>caC	p.Q89H		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	89								p.Q89H(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GCGAAGGCCTCTGCTCGCTGG	0.617000													34	121					0	0	0.004289	0	0
MKL1	57591	broad.mit.edu	37	22	40815081	40815081	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:40815081G>C	ENST00000396617.3	-	12	1951	c.1361C>G	c.(1360-1362)tCt>tGt	p.S454C	MKL1_ENST00000402042.1_Missense_Mutation_p.S404C|MKL1_ENST00000407029.1_Missense_Mutation_p.S454C|MKL1_ENST00000355630.3_Missense_Mutation_p.S454C	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	454					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.S454C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGGGGTGGGAGACACGGGGGG	0.667000			T	RBM15	acute megakaryocytic leukemia								4	18					0	0	0.009096	0	0
MROH7-TTC4	100527960	broad.mit.edu	37	1	55136238	55136238	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:55136238G>C	ENST00000414150.2	+	6	1736	c.1458G>C	c.(1456-1458)ctG>ctC	p.L486L	MROH7_ENST00000409996.1_Silent_p.L54L|MROH7_ENST00000545244.1_Silent_p.L54L|MROH7_ENST00000421030.2_Silent_p.L486L|MROH7_ENST00000395690.2_Silent_p.L486L|MROH7_ENST00000339553.5_Silent_p.L486L|MROH7_ENST00000454855.2_Silent_p.L4L														p.L486L(2)									TGGAGATCCTGACCCAGCTGA	0.627000													9	30					0	0	0.008291	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509701	171509701	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:171509701G>C	ENST00000367742.3	+	16	3338	c.3096G>C	c.(3094-3096)caG>caC	p.Q1032H	PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q1030H|PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q1032H|PRRC2C_ENST00000338920.4_Missense_Mutation_p.Q1030H			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1030							protein C-terminus binding	p.Q1032H(2)									AACGGGAACAGAGGAAGGAGA	0.433000													11	43					0	0	0.008291	0	0
KMT2A	4297	broad.mit.edu	37	11	118361911	118361911	+	Splice_Site	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:118361911G>A	ENST00000534358.1	+	14	4720	c.4697G>A	c.(4696-4698)gGa>gAa	p.G1566E	KMT2A_ENST00000389506.5_Splice_Site_p.G1566E|KMT2A_ENST00000354520.4_Splice_Site_p.G1528E	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.G1566E(2)									TTGCTTTCAGGAAACTTCTGC	0.418000													13	69					0	0	0.013537	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111741738	111741738	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:111741738C>T	ENST00000374595.4	-	7	1003	c.924G>A	c.(922-924)gaG>gaA	p.E308E	CTNNAL1_ENST00000325580.6_Silent_p.E308E|CTNNAL1_ENST00000325551.4_Silent_p.E308E			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	308					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	p.E308E(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AATAAAGATTCTCCCGAAGAG	0.418000													9	30					0	0	0.004482	0	0
USP42	84132	broad.mit.edu	37	7	6180583	6180583	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:6180583G>C	ENST00000306177.5	+	7	921	c.763G>C	c.(763-765)Gat>Cat	p.D255H		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	255					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.D383H(1)|p.D255H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AGATACTTTTGATCCATATCT	0.264000													9	48					0	0	0.004482	0	0
LAMP2	3920	broad.mit.edu	37	X	119581866	119581866	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:119581866T>C	ENST00000371335.4	-	5	707	c.571A>G	c.(571-573)Aaa>Gaa	p.K191E	LAMP2_ENST00000200639.4_Missense_Mutation_p.K191E|LAMP2_ENST00000538785.1_Missense_Mutation_p.K80E|LAMP2_ENST00000540603.1_Missense_Mutation_p.K144E|LAMP2_ENST00000434600.2_Missense_Mutation_p.K191E	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	191	First lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		p.K191E(3)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GTTTTGTCTTTATCACACAGG	0.408000													46	132					0	0	0.011902	0	0
NEDD4	4734	broad.mit.edu	37	15	56130727	56130727	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:56130727C>T	ENST00000508342.1	-	18	3663	c.3364G>A	c.(3364-3366)Gat>Aat	p.D1122N	NEDD4_ENST00000435532.3_Missense_Mutation_p.D703N|NEDD4_ENST00000338963.2_Missense_Mutation_p.D1050N|NEDD4_ENST00000506154.1_Missense_Mutation_p.D1106N	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1122	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.D1050N(1)|p.D703N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGTTCTTCATCTATGATAAAC	0.308000													21	66					0	0	0.005443	0	0
FAM102B	284611	broad.mit.edu	37	1	109103109	109103109	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:109103109C>T	ENST00000370035.3	+	1	399	c.59C>T	c.(58-60)tCa>tTa	p.S20L	FAM102B_ENST00000405454.1_Missense_Mutation_p.S20L	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	20								p.S20L(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GAGCTCTCCTCAGTGCCCTTC	0.627000													18	62					0	0	0.006122	0	0
ADCY5	111	broad.mit.edu	37	3	123051504	123051504	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:123051504G>C	ENST00000462833.1	-	4	2637	c.1425C>G	c.(1423-1425)atC>atG	p.I475M	ADCY5_ENST00000309879.5_Missense_Mutation_p.I125M|ADCY5_ENST00000491190.1_Missense_Mutation_p.I108M	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	475	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.I475M(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGAAGCCCTCGATGTCAGCAA	0.532000													5	60					0	0	0.001168	0	0
AP3D1	8943	broad.mit.edu	37	19	2116613	2116613	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:2116613C>T	ENST00000355272.6	-	17	2198	c.1992G>A	c.(1990-1992)gaG>gaA	p.E664E	AP3D1_ENST00000350812.6_Silent_p.E495E|AP3D1_ENST00000356926.4_Silent_p.E573E|AP3D1_ENST00000345016.5_Silent_p.E664E	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	664					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	p.E664E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGAGCCAGCTCTTCCTCGT	0.692000													4	9					0	0	0.001168	0	0
SLC16A6	9120	broad.mit.edu	37	17	66270075	66270075	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:66270075G>A	ENST00000327268.4	-	4	533	c.369C>T	c.(367-369)atC>atT	p.I123I	SLC16A6_ENST00000580666.1_Silent_p.I123I|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	123						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.I123I(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TACCAGAGATGATGCCGATGG	0.483000													17	49					0	0	0.008871	0	0
RTKN2	219790	broad.mit.edu	37	10	63977986	63977986	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:63977986C>T	ENST00000373789.3	-	8	952	c.856G>A	c.(856-858)Gag>Aag	p.E286K	RTKN2_ENST00000395265.1_Missense_Mutation_p.E286K|RTKN2_ENST00000315289.2_Missense_Mutation_p.E67K	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	286	PH.				signal transduction	intracellular		p.E286K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AATGCATCCTCAGCCATACAA	0.393000													13	78					0	0	0.013537	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43873500	43873500	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:43873500C>T	ENST00000420765.1	-	9	1046	c.864G>A	c.(862-864)ggG>ggA	p.G288G	PPIP5K1_ENST00000334933.4_Silent_p.G288G|PPIP5K1_ENST00000381885.1_Silent_p.G288G|PPIP5K1_ENST00000360135.4_Silent_p.G288G|PPIP5K1_ENST00000381879.4_Silent_p.G288G|PPIP5K1_ENST00000348806.6_Silent_p.G288G|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000360301.4_Silent_p.G288G|PPIP5K1_ENST00000396923.3_Silent_p.G288G	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	288					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.G288G(1)		large_intestine(1)	1						GAATCTCTTTCCCCTCACTGT	0.512000													52	259					0	0	0.014410	0	0
CMYA5	202333	broad.mit.edu	37	5	79027767	79027767	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:79027767C>T	ENST00000446378.2	+	2	3210	c.3179C>T	c.(3178-3180)tCa>tTa	p.S1060L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1060						perinuclear region of cytoplasm		p.S1060L(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGTTCAGTTCATCACAGAAG	0.428000													9	36					0	0	0.008291	0	0
FUS	2521	broad.mit.edu	37	16	31195651	31195651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:31195651C>T	ENST00000254108.7	+	5	562	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	FUS_ENST00000568685.1_Nonsense_Mutation_p.Q153*|FUS_ENST00000380244.3_Nonsense_Mutation_p.Q152*	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	153	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	p.Q153*(1)	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TAATCCCCCTCAGGGCTATGG	0.562000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								33	109					0	0	0.012213	0	0
CEP72	55722	broad.mit.edu	37	5	637659	637659	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:637659C>G	ENST00000264935.5	+	7	1022	c.932C>G	c.(931-933)tCt>tGt	p.S311C	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	311					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		p.S311C(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GACTCGGCCTCTTCTCAGAAG	0.532000													16	66					0	0	0.006122	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68935699	68935699	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:68935699G>C	ENST00000356291.2	-	6	600	c.541C>G	c.(541-543)Ctt>Gtt	p.L181V	UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	181					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.L181V(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CTGTTGAGAAGATTCCTCATC	0.333000													38	205					0	0	0.013114	0	0
IFT74	80173	broad.mit.edu	37	9	27036447	27036447	+	Splice_Site	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:27036447G>C	ENST00000429045.2	+	14	1111		c.e14-1		IFT74_ENST00000433700.1_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000380062.5_Intron	NM_001099224.1	NP_001092694.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)							cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		p.?(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		ttcatctgcagatcctaccaa	0.348000													11	38					0	0	0.010729	0	0
FOXRED1	55572	broad.mit.edu	37	11	126139117	126139117	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:126139117C>T	ENST00000263578.5	+	1	90	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	FOXRED1_ENST00000442061.2_5'UTR|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_5'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	6						integral to membrane|mitochondrion	oxidoreductase activity|protein binding	p.L6L(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TCGGAGGGTTCTGCCGCACGG	0.617000													18	65					0	0	0.008871	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783493	140783493	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140783493G>A	ENST00000573521.1	+	1	974	c.974G>A	c.(973-975)gGg>gAg	p.G325E	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGATGGTGGGGGATTGAAA	0.378000													41	131					0	0	0.014410	0	0
CDYL	9425	broad.mit.edu	37	6	4943860	4943860	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:4943860C>G	ENST00000328908.5	+	7	1495	c.1364C>G	c.(1363-1365)tCt>tGt	p.S455C	CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.S401C|CDYL_ENST00000449732.2_Missense_Mutation_p.S269C|CDYL_ENST00000343762.5_Missense_Mutation_p.S269C			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	455					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.S455C(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTAGGAGCATCTATATTGCCT	0.413000													35	136					0	0	0.006999	0	0
ERICH6-AS1	101928085	broad.mit.edu	37	3	150421899	150421900	+	RNA	INS	-	-	C	rs34009900	by1000genomes	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:150421899_150421900insC	ENST00000475393.1	+	0	20				RP11-103G8.2_ENST00000471093.1_RNA																							TTCTGTCCCTGCTCTTCAGCGT	0.545													3	6	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													5	2	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153249367	153249367	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:153249367delC	ENST00000281708.4	-	9	2640	c.1411delG	c.(1411-1413)gaafs	p.E471fs	FBXW7_ENST00000603548.1_Frame_Shift_Del_p.E471fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.E391fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.E471fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.E353fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.E295fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	471					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.E471*(2)|p.E232*(1)|p.?(1)|p.E391*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACCTTTTTTCATGAAGATGC	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								51	179	---	---	---	---					
MYOF	26509	broad.mit.edu	37	10	95132825	95132827	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:95132825_95132827delAGG	ENST00000371501.4	-	24	2439_2441	c.2317_2319delCCT	c.(2317-2319)cctdel	p.P773del	MYOF_ENST00000359263.4_In_Frame_Del_p.P773del|MYOF_ENST00000358334.5_In_Frame_Del_p.P760del|MYOF_ENST00000371502.4_In_Frame_Del_p.P773del			Q9NZM1	MYOF_HUMAN	myoferlin	773					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGATGATGTCAGGCATGCTGTTC	0.537													20	118	---	---	---	---					
KLF5	688	broad.mit.edu	37	13	73636362	73636362	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:73636362delA	ENST00000377687.4	+	2	1161	c.625delA	c.(625-627)aaafs	p.K209fs	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Frame_Shift_Del_p.K118fs	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	209					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TATTTTCATCAAACAAGAACT	0.532													22	81	---	---	---	---					
CYP2B7P	1556	broad.mit.edu	37	19	41448328	41448329	+	RNA	INS	-	-	T	rs60969022		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:41448328_41448329insT	ENST00000599198.1	+	0	1018					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						ACTCAAGGATCttttttttttt	0.475													2	4	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45910365	45910365	+	Frame_Shift_Del	DEL	C	C	-	rs117289933	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:45910365delC	ENST00000309424.3	+	2	524	c.36delC	c.(34-36)ttcfs	p.F12fs	CD3EAP_ENST00000589804.1_Frame_Shift_Del_p.F14fs	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	12					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CTGCTCGGTTCTCTTGTCCCC	0.592													52	163	---	---	---	---