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
PICALM	8301	broad.mit.edu	37	11	85779727	85779727	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:85779727G>A	ENST00000526033.1	-	1	412	c.96C>T	c.(94-96)caC>caT	p.H32H	PICALM_ENST00000356360.5_Silent_p.H32H|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000393346.3_Silent_p.H32H|PICALM_ENST00000532317.1_Silent_p.H32H|PICALM_ENST00000528411.1_5'UTR	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	32	ENTH.				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CCATGATCTCGTGGGTCGTGG	0.662000			T	"""MLLT10, MLL"""	"""TALL, AML, """								3	22					0	0	0.115264	0	0
CSMD2	114784	broad.mit.edu	37	1	34049245	34049245	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:34049245C>G	ENST00000373381.4	-	47	7413	c.7237G>C	c.(7237-7239)Gat>Cat	p.D2413H		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2415	CUB 14.					integral to membrane|plasma membrane	protein binding	p.D2415fs*1(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACTTACCATCAAAAATCTCA	0.493000													20	98					0	0	0.069288	0	0
ZNF208	7757	broad.mit.edu	37	19	22156351	22156351	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:22156351T>G	ENST00000397126.4	-	4	1633	c.1485A>C	c.(1483-1485)aaA>aaC	p.K495N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTGTAGGGTTTCTCTCCAG	0.373000													8	25					0	0	0.038147	0	0
MYBPC1	4604	broad.mit.edu	37	12	102025384	102025384	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:102025384G>A	ENST00000549145.1	+	6	389	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	MYBPC1_ENST00000547405.1_Missense_Mutation_p.E58K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E109K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E109K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E84K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E72K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E84K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E84K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E71K|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E70K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	84	Ig-like C2-type 1.			KWFKG -> NGSR (in Ref. 1; CAA46987).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			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						AGTCAAGGCTGAAGATCTTCT	0.438000													15	79					0	0	0.119110	0	0
TRPM3	80036	broad.mit.edu	37	9	73225627	73225627	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:73225627C>G	ENST00000377110.2	-	18	2772	c.2529G>C	c.(2527-2529)aaG>aaC	p.K843N	TRPM3_ENST00000396292.4_Missense_Mutation_p.K715N|TRPM3_ENST00000357533.2_Missense_Mutation_p.K847N|TRPM3_ENST00000360823.2_Missense_Mutation_p.K705N|TRPM3_ENST00000377106.1_Missense_Mutation_p.K715N|TRPM3_ENST00000423814.3_Missense_Mutation_p.K870N|TRPM3_ENST00000377105.1_Missense_Mutation_p.K702N|TRPM3_ENST00000358082.3_Missense_Mutation_p.K705N|TRPM3_ENST00000408909.2_Missense_Mutation_p.K702N|TRPM3_ENST00000396280.5_Missense_Mutation_p.K692N|TRPM3_ENST00000377111.2_Missense_Mutation_p.K843N|TRPM3_ENST00000396285.1_Missense_Mutation_p.K690N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	868						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTTCATCCTTCTTCCTGGAGG	0.473000													12	94					0	0	0.105934	0	0
MESDC1	59274	broad.mit.edu	37	15	81295306	81295306	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr15:81295306G>A	ENST00000267984.2	+	1	2012	c.694G>A	c.(694-696)Gtg>Atg	p.V232M		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	232										endometrium(1)|lung(2)	3						GCTGGCCTGCGTGCGCGAGGT	0.697000													4	16					0	0	0.014758	0	0
FAM208B	54906	broad.mit.edu	37	10	5781788	5781788	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:5781788C>T	ENST00000328090.5	+	13	2280	c.1655C>T	c.(1654-1656)tCt>tTt	p.S552F	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	552																	ACACCAGTATCTGAGGCTAGA	0.403000													29	78					0	0	0.125774	0	0
PAK7	57144	broad.mit.edu	37	20	9547019	9547019	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:9547019G>A	ENST00000378429.3	-	6	1549	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PAK7_ENST00000378423.1_Nonsense_Mutation_p.R335*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.R335*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	335	Linker.		R -> P (in dbSNP:rs11700112).				ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCTGTGCTCGATCGTAATCC	0.537000													23	90					0	0	0.062417	0	0
CABP1	9478	broad.mit.edu	37	12	121094058	121094058	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:121094058G>A	ENST00000453000.1	+	1	957	c.445G>A	c.(445-447)Gct>Act	p.A149T	CABP1_ENST00000316803.3_Intron|CABP1_ENST00000288616.3_Missense_Mutation_p.A70T|CABP1_ENST00000351200.2_Intron			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	0	Pro-rich.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGGGCTTCGCTGAGAACAG	0.617000													6	17					0	0	0.029380	0	0
COL17A1	1308	broad.mit.edu	37	10	105796297	105796297	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:105796297G>C	ENST00000353479.5	-	48	3661	c.3371C>G	c.(3370-3372)tCt>tGt	p.S1124C	COL17A1_ENST00000369733.3_Missense_Mutation_p.S1079C	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1124	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATAGTCCAAAGACAGGAGGGA	0.592000													7	25					0	0	0.038147	0	0
CDON	50937	broad.mit.edu	37	11	125891182	125891182	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:125891182C>T	ENST00000392693.3	-	3	437	c.310G>A	c.(310-312)Ggt>Agt	p.G104S	CDON_ENST00000263577.7_Missense_Mutation_p.G104S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	104	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ACAATGGCACCGATGCTATTG	0.433000													5	31					0	0	0.014758	0	0
ZNF408	79797	broad.mit.edu	37	11	46726882	46726882	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:46726882C>G	ENST00000311764.2	+	5	1862	c.1632C>G	c.(1630-1632)atC>atG	p.I544M		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCATCTCATCTCACACACCG	0.677000													10	24					0	0	0.069234	0	0
SCAF4	57466	broad.mit.edu	37	21	33067131	33067131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr21:33067131G>A	ENST00000286835.7	-	10	1613	c.1231C>T	c.(1231-1233)Cag>Tag	p.Q411*	SCAF4_ENST00000434667.3_Nonsense_Mutation_p.Q396*|SCAF4_ENST00000399804.1_Nonsense_Mutation_p.Q411*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	411						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTTACCTGCTGATGCGGCTTC	0.408000													12	40					0	0	0.093190	0	0
PCDH10	57575	broad.mit.edu	37	4	134076091	134076091	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:134076091G>A	ENST00000264360.4	+	3	3536	c.2710G>A	c.(2710-2712)Gac>Aac	p.D904N		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	904					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCAGGAAGCCGACATAGTAAG	0.433000													12	26					0	0	0.093190	0	0
TAGLN	6876	broad.mit.edu	37	11	117075058	117075058	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:117075058C>T	ENST00000532870.1	+	4	1730	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	TAGLN_ENST00000530649.1_Missense_Mutation_p.R197W|TAGLN_ENST00000392951.4_Missense_Mutation_p.R197W|PCSK7_ENST00000320934.3_3'UTR			Q01995	TAGL_HUMAN	transgelin	197					muscle organ development	cytoplasm	actin binding			central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		CGGACGACCTCGGCAGATCAT	0.647000													16	49					0	0	0.146539	0	0
USP15	9958	broad.mit.edu	37	12	62708688	62708688	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:62708688G>A	ENST00000280377.5	+	4	524	c.466G>A	c.(466-468)Gac>Aac	p.D156N	USP15_ENST00000312635.6_Missense_Mutation_p.D156N|USP15_ENST00000353364.3_Missense_Mutation_p.D156N|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.D156N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	156					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGCAAAGCTGACACAATAGG	0.308000													34	137					0	0	0.064281	0	0
ZNF568	374900	broad.mit.edu	37	19	37440743	37440743	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:37440743G>T	ENST00000415168.1	+	5	872	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.D230Y	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTGGACAAGACTTCAGTCA	0.398000													14	72					2.61681e-11	2.79069e-11	0.119110	1	0
KIF24	347240	broad.mit.edu	37	9	34286638	34286638	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:34286638C>G	ENST00000379166.2	-	6	1311	c.1192G>C	c.(1192-1194)Gac>Cac	p.D398H	KIF24_ENST00000379174.3_Intron|KIF24_ENST00000345050.2_Intron|KIF24_ENST00000402558.2_Missense_Mutation_p.D398H	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	398	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCCACACTGTCCACCTGAAGC	0.443000													9	55					0	0	0.047766	0	0
SIN3B	23309	broad.mit.edu	37	19	16980676	16980676	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:16980676G>A	ENST00000379803.1	+	14	2322	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N	SIN3B_ENST00000595541.1_Missense_Mutation_p.D328N|SIN3B_ENST00000248054.5_Missense_Mutation_p.D738N	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	770					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCCCCTGGACGATGTCTACAG	0.642000													7	25					0	0	0.038147	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776351	159776351	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:159776351C>T	ENST00000393975.3	-	3	820	c.817G>A	c.(817-819)Ggc>Agc	p.G273S		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	228	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCGTGGTTGCCGGTGTTGGCA	0.577000													4	91					0	0	0.150653	0	0
RSAD2	91543	broad.mit.edu	37	2	7035928	7035928	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:7035928G>A	ENST00000382040.3	+	6	1077	c.941G>A	c.(940-942)aGa>aAa	p.R314K	RSAD2_ENST00000541728.1_Missense_Mutation_p.R207K	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	314					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CTGAACTGTAGAAAGGGACGG	0.378000													12	50					0	0	0.105934	0	0
CDK3	1018	broad.mit.edu	37	17	73998157	73998157	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:73998157C>T	ENST00000425876.2	+	3	337	c.249C>T	c.(247-249)ctC>ctT	p.L83L	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.L83L			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	83	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						TTGAGTTCCTCAGCCAGGACC	0.572000													14	54					0	0	0.132662	0	0
CKB	1152	broad.mit.edu	37	14	103986629	103986629	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:103986629G>A	ENST00000348956.2	-	7	1154	c.797C>T	c.(796-798)tCt>tTt	p.S266F		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	266	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	ATAGTCCTTAGACTTGAAGAG	0.567000													8	35					0	0	0.038147	0	0
KPNA5	3841	broad.mit.edu	37	6	117047696	117047696	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:117047696G>C	ENST00000368564.1	+	12	1312	c.1164G>C	c.(1162-1164)gaG>gaC	p.E388D	KPNA5_ENST00000356348.1_Missense_Mutation_p.E388D			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	385	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TTTTGATTGAGATTCTTCAGA	0.338000													22	67					0	0	0.076483	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	40					0	0	0.115264	0	0
TCHH	7062	broad.mit.edu	37	1	152083791	152083791	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:152083791C>T	ENST00000368804.1	-	2	1901	c.1902G>A	c.(1900-1902)ctG>ctA	p.L634L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	634	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			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)			CCTCGCTCTTCAGCAGCTGCT	0.672000													22	46					0	0	0.069288	0	0
MAP2K7	5609	broad.mit.edu	37	19	7968931	7968931	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:7968931C>T	ENST00000545011.1	+	1	167	c.102C>T	c.(100-102)atC>atT	p.I34I	MAP2K7_ENST00000397979.3_Silent_p.I34I|MAP2K7_ENST00000397981.3_Silent_p.I34I|MAP2K7_ENST00000397983.3_Silent_p.I34I			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	34					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	ACCTGGATATCAGCCCCCAGC	0.741000													5	12					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179427277	179427277	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:179427277G>C	ENST00000589042.1	-	326	83806	c.83582C>G	c.(83581-83583)tCt>tGt	p.S27861C	TTN_ENST00000342992.6_Missense_Mutation_p.S25293C|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S18988C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S18796C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S26220C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S18921C|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26220	Ig-like 130.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTGGTTCAGACACTTTAAC	0.443000													10	48					0	0	0.058154	0	0
ST5	6764	broad.mit.edu	37	11	8751512	8751512	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:8751512C>T	ENST00000534127.1	-	6	1710	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	ST5_ENST00000357665.1_Missense_Mutation_p.R442H|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R442H|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	442	Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGGGACTTGCGGTGACCACG	0.577000													6	409					0	0	0.021553	0	0
LDHB	3945	broad.mit.edu	37	12	21794926	21794926	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:21794926G>A	ENST00000396076.1	-	5	887	c.555C>T	c.(553-555)agC>agT	p.S185S	LDHB_ENST00000350669.1_Silent_p.S185S	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	185					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	ATCCATGGCAGCTGCTGGGAT	0.408000													13	56					0	0	0.105934	0	0
RINT1	60561	broad.mit.edu	37	7	105183014	105183014	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:105183014C>G	ENST00000257700.2	+	4	664	c.433C>G	c.(433-435)Ctt>Gtt	p.L145V		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	145					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GATGGACGATCTTGGAACCAT	0.413000													19	34					0	0	0.043863	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357325	36357325	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:36357325C>T	ENST00000360202.5	+	15	2256	c.2058C>T	c.(2056-2058)ccC>ccT	p.P686P	KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000586102.2_Silent_p.P666P|KIRREL2_ENST00000592409.1_Silent_p.P651P|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	686	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				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)			ATCTGGCCCCCGGGACTCCCC	0.592000													26	71					0	0	0.116897	0	0
GABRG1	2565	broad.mit.edu	37	4	46043203	46043203	+	Silent	SNP	A	A	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:46043203A>G	ENST00000295452.4	-	9	1367	c.1200T>C	c.(1198-1200)gaT>gaC	p.D400D		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	400					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			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)		ACCCATAATCATCTTCTTGCG	0.423000													16	37					0	0	0.146539	0	0
FPR2	2358	broad.mit.edu	37	19	52272800	52272800	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:52272800C>T	ENST00000598776.1	+	2	1661	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	FPR2_ENST00000598953.1_Missense_Mutation_p.L297F|FPR2_ENST00000340023.6_Missense_Mutation_p.L297F	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	297					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CAACAGCTGCCTCAACCCCAT	0.542000													23	52					0	0	0.099896	0	0
GPR112	139378	broad.mit.edu	37	X	135429302	135429302	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:135429302C>G	ENST00000394143.1	+	6	3728	c.3437C>G	c.(3436-3438)tCa>tGa	p.S1146*	GPR112_ENST00000412101.1_Nonsense_Mutation_p.S941*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.S941*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.S1146*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.S1083*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1146					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTGTCTGCTCAAAACCTCCC	0.488000													3	155					0	0	0.115264	0	0
ABCF3	55324	broad.mit.edu	37	3	183910898	183910898	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:183910898G>A	ENST00000429586.2	+	19	1944	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	ABCF3_ENST00000292808.5_Missense_Mutation_p.E581K|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	587	ABC transporter 2.						ATP binding|ATPase activity	p.E587Q(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGCGGCCTGAGGAGGAGTA	0.632000													12	39					0	0	0.105934	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452578	26452578	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:26452578C>T	ENST00000244519.2	+	11	1937	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	BTN3A3_ENST00000361232.3_Missense_Mutation_p.S516F|BTN3A3_ENST00000339789.4_Missense_Mutation_p.S523F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	565						integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GCTGAGGTCTCCCCTTCTGCA	0.493000													9	19					0	0	0.069234	0	0
UBFD1	56061	broad.mit.edu	37	16	23570850	23570850	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:23570850G>A	ENST00000395878.3	+	3	798	c.417G>A	c.(415-417)ttG>ttA	p.L139L	UBFD1_ENST00000219638.4_Silent_p.L363L|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000567264.1_Silent_p.L139L|UBFD1_ENST00000567212.1_Silent_p.L130L	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	139	Ubiquitin-like.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		ATAAAACATTGAGAGAAATAA	0.488000													5	27					0	0	0.021553	0	0
OR5R1	219479	broad.mit.edu	37	11	56185150	56185150	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:56185150G>C	ENST00000312253.1	-	1	558	c.559C>G	c.(559-561)Ctg>Gtg	p.L187V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GAGCAGGACAGAGCTAAGAAG	0.448000													15	54					0	0	0.119110	0	0
LOC401127	401127	broad.mit.edu	37	4	39482422	39482422	+	RNA	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:39482422G>A	ENST00000513652.1	+	0	429																											AAACCTTGAAGATACGGGACG	0.463000													14	23					0	0	0.105934	0	0
FCN2	2220	broad.mit.edu	37	9	137777654	137777654	+	Missense_Mutation	SNP	G	G	T	rs56281005		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:137777654G>T	ENST00000350339.2	+	5	370	c.356G>T	c.(355-357)cGg>cTg	p.R119L	FCN2_ENST00000291744.6_Missense_Mutation_p.R157L	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	157	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GACTTCTACCGGGACTGGGCC	0.677000													3	58					0.115264	0.117834	0.115264	1	0
PLCE1	51196	broad.mit.edu	37	10	95791053	95791053	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:95791053G>C	ENST00000260766.3	+	2	884	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	PLCE1_ENST00000371380.2_Missense_Mutation_p.E84Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	84					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTGAGTGATGAGAACAGTAA	0.383000													25	58					0	0	0.091800	0	0
FBLN2	2199	broad.mit.edu	37	3	13655526	13655526	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:13655526G>A	ENST00000404922.3	+	5	1710	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	FBLN2_ENST00000492059.1_Missense_Mutation_p.E531K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E531K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E557K	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	531	Anaphylatoxin-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGTGCGGGCCGAGGGCCAGTC	0.597000													12	41					0	0	0.093190	0	0
PDE1C	5137	broad.mit.edu	37	7	31918650	31918650	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:31918650C>G	ENST00000396184.3	-	5	588	c.384G>C	c.(382-384)aaG>aaC	p.K128N	PDE1C_ENST00000321453.7_Missense_Mutation_p.K128N|PDE1C_ENST00000396193.1_Missense_Mutation_p.K188N|PDE1C_ENST00000396191.1_Missense_Mutation_p.K128N|PDE1C_ENST00000396182.2_Missense_Mutation_p.K128N	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	128					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GAACGATGCTCTTGAACCGGG	0.532000													21	62					0	0	0.076483	0	0
PCBP1	5093	broad.mit.edu	37	2	70315832	70315832	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:70315832G>A	ENST00000303577.5	+	1	1248	c.957G>A	c.(955-957)gtG>gtA	p.V319V	PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	319	KH 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CCAACCCAGTGGAAGGCTCCT	0.512000													15	34					0	0	0.160694	0	0
PC	5091	broad.mit.edu	37	11	66617476	66617476	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:66617476C>T	ENST00000393960.1	-	20	3111	c.2830G>A	c.(2830-2832)Gtg>Atg	p.V944M	PC_ENST00000393958.2_Missense_Mutation_p.V944M|PC_ENST00000529047.1_Missense_Mutation_p.V64M|PC_ENST00000393955.2_Missense_Mutation_p.V944M	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	944					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AACTCCACCACGGAGCGGGGA	0.627000													9	70					0	0	0.047766	0	0
PPP1R11	6992	broad.mit.edu	37	6	30037047	30037047	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:30037047C>G	ENST00000376772.3	+	3	668	c.345C>G	c.(343-345)gaC>gaG	p.D115E	PPP1R11_ENST00000376773.1_Missense_Mutation_p.D63E|PPP1R11_ENST00000376769.2_Missense_Mutation_p.D63E|PPP1R11_ENST00000376758.1_Missense_Mutation_p.D63E|PPP1R11_ENST00000376765.2_Missense_Mutation_p.D63E|PPP1R11_ENST00000376763.1_Missense_Mutation_p.D63E	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	115	Pro-rich.					soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						AGCCTCCTGACCCTTCCCAGC	0.597000													19	88					0	0	0.062417	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50659487	50659487	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:50659487G>A	ENST00000439308.2	-	16	3793	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.R1101W|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1101	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACCGTGGCCGAGTGGGAGCC	0.597000													20	111					0	0	0.049695	0	0
CNTN1	1272	broad.mit.edu	37	12	41374736	41374736	+	Silent	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:41374736G>C	ENST00000551295.2	+	16	1947	c.1830G>C	c.(1828-1830)ctG>ctC	p.L610L	CNTN1_ENST00000347616.1_Silent_p.L610L|CNTN1_ENST00000348761.2_Silent_p.L599L	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	610	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGGTGGTCTGAGAATAGAAG	0.413000													30	130					0	0	0.134883	0	0
SHROOM1	134549	broad.mit.edu	37	5	132159668	132159668	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:132159668G>A	ENST00000378679.3	-	7	2489	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	SHROOM1_ENST00000378676.1_Missense_Mutation_p.S493F|SHROOM1_ENST00000319854.3_Missense_Mutation_p.S562F	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	562	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			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)			GCTGGGCTGGGAAGCAAGAGG	0.632000													18	32					0	0	0.175082	0	0
FAT2	2196	broad.mit.edu	37	5	150946494	150946494	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:150946494G>T	ENST00000261800.5	-	1	2011	c.1999C>A	c.(1999-2001)Cct>Act	p.P667T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	667	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATGTTACAGGAACTTCAAAA	0.423000													22	99					3.62473e-10	3.84006e-10	0.062417	1	0
WDR64	128025	broad.mit.edu	37	1	241850813	241850813	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:241850813C>T	ENST00000366552.2	+	7	1067	c.860C>T	c.(859-861)tCa>tTa	p.S287L	WDR64_ENST00000437684.2_Missense_Mutation_p.S287L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	287										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)			AGATATATTTCAGCCCTAAAT	0.343000													20	83					0	0	0.043863	0	0
CLOCK	9575	broad.mit.edu	37	4	56310880	56310880	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:56310880C>G	ENST00000309964.4	-	18	1862	c.1612G>C	c.(1612-1614)Gaa>Caa	p.E538Q	CLOCK_ENST00000513440.1_Missense_Mutation_p.E538Q|CLOCK_ENST00000381322.1_Missense_Mutation_p.E538Q	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	538	Implicated in the circadian rhythmicity (By similarity).				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ATATTTGCTTCTATCATGCGT	0.388000													13	50					0	0	0.093190	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64084754	64084754	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:64084754C>A	ENST00000295902.6	-	8	3093	c.2508G>T	c.(2506-2508)caG>caT	p.Q836H	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.Q892H	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	836						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TTTTGCTCTTCTGTCTTTTCC	0.438000													29	72					9.39395e-14	1.00851e-13	0.116897	1	0
LHFPL1	340596	broad.mit.edu	37	X	111874751	111874751	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:111874751G>C	ENST00000371968.3	-	4	799	c.560C>G	c.(559-561)tCt>tGt	p.S187C	LHFPL1_ENST00000536453.1_Missense_Mutation_p.S154C|LHFPL1_ENST00000478229.1_5'UTR	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	187						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						AGCAAAGCAAGAGAGCCAGGT	0.512000													21	74					0	0	0.055883	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495568	6495568	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:6495568G>A	ENST00000264071.2	-	4	1313	c.942C>T	c.(940-942)gcC>gcT	p.A314A	TUBB4A_ENST00000540257.1_Silent_p.A314A			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	314					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GGAACACGGCGGCCACGGTCA	0.647000													24	99					0	0	0.083992	0	0
TBC1D8	11138	broad.mit.edu	37	2	101624355	101624355	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:101624355G>A	ENST00000409318.1	-	20	3526	c.3396C>T	c.(3394-3396)atC>atT	p.I1132I	RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000376840.4_Silent_p.I1117I|RPL31_ENST00000409650.1_Intron	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1117					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TGTACTGATTGATCTTGGCAT	0.383000													39	129					0	0	0.086207	0	0
EFNB1	1947	broad.mit.edu	37	X	68058611	68058611	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:68058611G>A	ENST00000204961.4	+	2	1060	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	94					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CACAGTTCTCGACCCCAACGT	0.567000													6	12					0	0	0.021553	0	0
NBR2	10230	broad.mit.edu	37	17	41290987	41290987	+	RNA	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:41290987C>T	ENST00000460115.1	+	0	490					NR_003108.1																						ccacaaccttcaccacctcta	0.463000													15	33					0	0	0.146539	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250460	140250460	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:140250460C>T	ENST00000398640.2	+	1	1772	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGTGGTGGCGAAGGTGCGC	0.682000													55	82					0	0	0.139131	0	0
KALRN	8997	broad.mit.edu	37	3	123987636	123987636	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:123987636C>T	ENST00000360013.3	+	5	624	c.497C>T	c.(496-498)tCc>tTc	p.S166F	KALRN_ENST00000240874.3_Missense_Mutation_p.S166F|KALRN_ENST00000460856.1_Missense_Mutation_p.S166F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	166	CRAL-TRIO.				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			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						GTGGACCCCTCCCAGCTGACG	0.577000													8	47					0	0	0.038147	0	0
CNOT6	57472	broad.mit.edu	37	5	179998330	179998330	+	Silent	SNP	G	G	A	rs34154769		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:179998330G>A	ENST00000393356.1	+	13	1783	c.1359G>A	c.(1357-1359)ggG>ggA	p.G453G	CNOT6_ENST00000261951.4_Silent_p.G453G			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	453					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GCTGTCATGGGAAGAATGGAA	0.403000													26	51					0	0	0.083992	0	0
POLQ	10721	broad.mit.edu	37	3	121207996	121207996	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:121207996C>T	ENST00000264233.5	-	16	3910	c.3782G>A	c.(3781-3783)aGa>aAa	p.R1261K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1261					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TATCACAGTTCTGCTTATATC	0.343000								DNA polymerases (catalytic subunits)					38	151					0	0	0.117977	0	0
HIBCH	26275	broad.mit.edu	37	2	191155142	191155142	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:191155142T>C	ENST00000392332.3	-	5	513	c.374A>G	c.(373-375)aAt>aGt	p.N125S	HIBCH_ENST00000359678.5_Missense_Mutation_p.N125S			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	125					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			AACAGCATTATTCAGCATATA	0.343000													15	28					0	0	0.119110	0	0
TMUB1	83590	broad.mit.edu	37	7	150779330	150779330	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:150779330C>T	ENST00000392818.3	-	2	678	c.321G>A	c.(319-321)ctG>ctA	p.L107L	TMUB1_ENST00000482202.1_Silent_p.L107L|TMUB1_ENST00000476627.1_Silent_p.L107L|TMUB1_ENST00000297533.4_Silent_p.L107L|TMUB1_ENST00000462940.1_Silent_p.L107L	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	107	Ubiquitin-like.					cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAGGAATTTCAGCCGTAGCA	0.597000													68	200					0	0	0.139131	0	0
BHLHE40	8553	broad.mit.edu	37	3	5025027	5025027	+	Missense_Mutation	SNP	G	G	A	rs141865687		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:5025027G>A	ENST00000256495.3	+	5	1492	c.889G>A	c.(889-891)Gat>Aat	p.D297N		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	297						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GCTTTCGGATGATGAAGGCCA	0.562000													9	62					0	0	0.058154	0	0
AIFM3	150209	broad.mit.edu	37	22	21322208	21322208	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:21322208G>A	ENST00000335375.5	+	2	157	c.50G>A	c.(49-51)tGc>tAc	p.C17Y	AIFM3_ENST00000333607.6_5'UTR|AIFM3_ENST00000399163.2_5'UTR|AIFM3_ENST00000399167.2_5'UTR|AIFM3_ENST00000440238.2_5'UTR|AIFM3_ENST00000405089.1_5'UTR					apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCTCCTGCCTGCCGGCCATCC	0.662000													10	29					0	0	0.093190	0	0
SHANK2	22941	broad.mit.edu	37	11	70331881	70331881	+	Missense_Mutation	SNP	G	G	A	rs146717159		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:70331881G>A	ENST00000338508.4	-	32	4519	c.4520C>T	c.(4519-4521)aCg>aTg	p.T1507M	SHANK2_ENST00000409161.1_Missense_Mutation_p.T910M|SHANK2_ENST00000423696.2_Missense_Mutation_p.T1127M|SHANK2_ENST00000449833.2_Missense_Mutation_p.T911M			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1127					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGTGCTGGTCGTCTCGAGGTG	0.587000													27	51					0	0	0.099896	0	0
WDR62	284403	broad.mit.edu	37	19	36558321	36558321	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:36558321C>T	ENST00000401500.2	+	6	710	c.675C>T	c.(673-675)ttC>ttT	p.F225F	WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Silent_p.F225F|WDR62_ENST00000270301.7_Silent_p.F225F	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	225					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGTTCTGGTTCTTGGAAGTCT	0.532000													8	56					0	0	0.047766	0	0
OR2AT4	341152	broad.mit.edu	37	11	74799942	74799942	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:74799942G>A	ENST00000305159.3	-	1	857	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGGAAGTCAAGGGGCAGGTCA	0.522000													19	62					0	0	0.069288	0	0
AVPR1B	553	broad.mit.edu	37	1	206224835	206224835	+	Missense_Mutation	SNP	G	G	A	rs41314448		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:206224835G>A	ENST00000367126.4	+	1	860	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	132					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACGCTGGACCGCTACCTGGCT	0.657000													15	62					0	0	0.132662	0	0
MCMDC2	157777	broad.mit.edu	37	8	67808488	67808488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:67808488C>T	ENST00000422365.2	+	11	1534	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	MCMDC2_ENST00000541540.1_Nonsense_Mutation_p.Q392*|MCMDC2_ENST00000396592.3_Nonsense_Mutation_p.Q455*|MCMDC2_ENST00000313616.5_Nonsense_Mutation_p.Q455*	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	455					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TTTTCCAGTTCAGTGCAGTTT	0.388000													14	69					0	0	0.119110	0	0
ABCD2	225	broad.mit.edu	37	12	40013386	40013386	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:40013386C>G	ENST00000308666.3	-	1	167	c.32G>C	c.(31-33)cGa>cCa	p.R11P		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	11	Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CCATTTCACTCGATCAGCTGC	0.473000													4	39					0	0	0.150653	0	0
PFKFB1	5207	broad.mit.edu	37	X	54971913	54971913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:54971913G>A	ENST00000375006.3	-	10	1127	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.R153*|PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R288*	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	353	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TCTTGGTCTCGCAGTGCAAAT	0.473000													7	19					0	0	0.038147	0	0
NCOA3	8202	broad.mit.edu	37	20	46256365	46256365	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:46256365G>A	ENST00000372004.3	+	7	809	c.593G>A	c.(592-594)cGt>cAt	p.R198H	NCOA3_ENST00000371997.3_Missense_Mutation_p.R198H|NCOA3_ENST00000341724.6_Missense_Mutation_p.R198H|NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000371998.3_Missense_Mutation_p.R198H	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	198					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTTAATTGCCGTATGTTGATG	0.383000													24	60					0	0	0.076483	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65339965	65339965	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:65339965G>A	ENST00000284037.5	+	17	1818	c.1428_splice	c.e17-1	p.E477_splice	ERBB2IP_ENST00000508515.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380939.2_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380935.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380936.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380938.2_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380943.2_Splice_Site_p.E477_splice|ERBB2IP_ENST00000511297.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000506030.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	477					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ATTTCTCTAGGAGGGAAATTT	0.284000													10	37					0	0	0.069234	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140800862	140800862	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:140800862C>T	ENST00000398587.2	+	1	101	c.68C>T	c.(67-69)aCg>aTg	p.T23M	PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T23M|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTGGGGACGCTGCGGGGG	0.622000													4	25					0	0	0.150653	0	0
SUPT7L	9913	broad.mit.edu	37	2	27880482	27880482	+	Silent	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:27880482G>C	ENST00000337768.5	-	4	1043	c.474C>G	c.(472-474)ctC>ctG	p.L158L	SUPT7L_ENST00000405491.1_Silent_p.L156L|SUPT7L_ENST00000404798.2_Silent_p.L23L|SUPT7L_ENST00000464789.2_Silent_p.L156L|SUPT7L_ENST00000406540.1_Silent_p.L156L	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	158					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CTGCCTGGTAGAGGAGCTGCC	0.532000													8	30					0	0	0.058154	0	0
PARP8	79668	broad.mit.edu	37	5	50055555	50055555	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:50055555G>A	ENST00000281631.5	+	4	421	c.263G>A	c.(262-264)aGa>aAa	p.R88K	PARP8_ENST00000505697.2_Missense_Mutation_p.R88K|PARP8_ENST00000503750.2_Missense_Mutation_p.R88K|PARP8_ENST00000505554.1_Missense_Mutation_p.R67K|PARP8_ENST00000511363.2_Intron|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.R88K	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	88						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATTTTTCATAGAATAGCAACA	0.259000													9	48					0	0	0.058154	0	0
TST	7263	broad.mit.edu	37	22	37407206	37407206	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:37407206G>A	ENST00000403892.3	-	2	1490	c.756C>T	c.(754-756)gtC>gtT	p.V252V	TST_ENST00000249042.3_Silent_p.V252V	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	252	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GGCAGGCGGTGACTCCCTTGC	0.642000													5	30					0	0	0.021553	0	0
FAT1	2195	broad.mit.edu	37	4	187541201	187541201	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:187541201G>A	ENST00000441802.2	-	10	6748	c.6539C>T	c.(6538-6540)cCt>cTt	p.P2180L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2180	Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCAAACACAGGCATGGCTTT	0.483000										HNSCC(5;0.00058)			9	51					0	0	0.047766	0	0
NCBP2	22916	broad.mit.edu	37	3	196664450	196664450	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:196664450G>C	ENST00000447325.1	-	3	469	c.120C>G	c.(118-120)atC>atG	p.I40M	NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000427641.2_Missense_Mutation_p.I57M|NCBP2_ENST00000422610.1_Missense_Mutation_p.I40M|NCBP2_ENST00000452404.2_Missense_Mutation_p.I92M|NCBP2_ENST00000321256.5_Missense_Mutation_p.I110M			P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	110	RRM.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		CTGTGCGAATGATTCGGTCAT	0.532000													25	69					0	0	0.108266	0	0
PHYH	5264	broad.mit.edu	37	10	13323083	13323083	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:13323083C>T	ENST00000396920.3	-	8	1209	c.805G>A	c.(805-807)Gat>Aat	p.D269N	PHYH_ENST00000396913.2_Missense_Mutation_p.D186N|PHYH_ENST00000263038.4_Missense_Mutation_p.D286N			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	286			N -> H (in RD).		fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TAGTGGCAATCGGCACTGGCG	0.433000													15	58					0	0	0.146539	0	0
TACR3	6870	broad.mit.edu	37	4	104640753	104640753	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:104640753G>A	ENST00000304883.2	-	1	220	c.80C>T	c.(79-81)tCg>tTg	p.S27L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	27						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCAGCTAGCGAGGCGGTCAG	0.682000													10	35					0	0	0.058154	0	0
PTPRM	5797	broad.mit.edu	37	18	7955287	7955287	+	Missense_Mutation	SNP	C	C	T	rs150274533	by1000genomes	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:7955287C>T	ENST00000332175.8	+	7	2044	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	PTPRM_ENST00000400060.4_Missense_Mutation_p.T336M|PTPRM_ENST00000400053.4_Missense_Mutation_p.T274M|PTPRM_ENST00000580170.1_Missense_Mutation_p.T336M|PTPRM_ENST00000444013.1_Missense_Mutation_p.T123M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	336	Fibronectin type-III 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTCGATTCCACGAGCTATAAA	0.572000													6	30					0	0	0.021553	0	0
TTBK1	84630	broad.mit.edu	37	6	43230734	43230734	+	Silent	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:43230734C>A	ENST00000259750.4	+	13	1715	c.1632C>A	c.(1630-1632)gtC>gtA	p.V544V	TTBK1_ENST00000304139.5_Silent_p.V493V	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	544						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AAGAGTGGGTCATCATCGACA	0.642000													10	10					1.58986e-06	1.65697e-06	0.069234	1	0
FZD8	8325	broad.mit.edu	37	10	35928655	35928655	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:35928655G>A	ENST00000374694.1	-	1	1707	c.1703C>T	c.(1702-1704)cCg>cTg	p.P568L		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	568					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CCGCAGGCACGGGCAGTTGTG	0.672000													12	35					0	0	0.080935	0	0
SPAG17	200162	broad.mit.edu	37	1	118583431	118583431	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:118583431G>C	ENST00000336338.5	-	22	3153	c.3088C>G	c.(3088-3090)Caa>Gaa	p.Q1030E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1030						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTGAGATTTGAGTGGGTATA	0.363000													8	44					0	0	0.038147	0	0
NCAPH	23397	broad.mit.edu	37	2	97035215	97035215	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:97035215C>G	ENST00000455200.1	+	17	2405	c.2110C>G	c.(2110-2112)Ctc>Gtc	p.L704V	NCAPH_ENST00000240423.4_Missense_Mutation_p.L715V|NCAPH_ENST00000427946.1_Missense_Mutation_p.L579V			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	715					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TTTTGCCTGTCTCCTACATTT	0.428000													34	105					0	0	0.074837	0	0
LSG1	55341	broad.mit.edu	37	3	194362875	194362875	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:194362875C>T	ENST00000265245.5	-	14	2213	c.1899G>A	c.(1897-1899)gcG>gcA	p.A633A	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	633					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AGGGCTTCCCCGCCCCGTTCT	0.498000													21	74					0	0	0.049695	0	0
TENM1	10178	broad.mit.edu	37	X	123554626	123554626	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:123554626G>C	ENST00000422452.2	-	25	4580	c.4517C>G	c.(4516-4518)tCc>tGc	p.S1506C	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.S1499C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CACTGCTAAGGAGGAAGGGGC	0.463000													22	61					0	0	0.083992	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161024455	161024455	+	Missense_Mutation	SNP	T	T	C	rs146389701	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:161024455T>C	ENST00000368013.3	-	4	706	c.386A>G	c.(385-387)aAg>aGg	p.K129R	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.K129R	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	129	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCTAGGATCTTGACCAAGCG	0.527000													15	60					0	0	0.146539	0	0
LCORL	254251	broad.mit.edu	37	4	17847407	17847407	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:17847407C>G	ENST00000326877.3	-	7	1018	c.894G>C	c.(892-894)ttG>ttC	p.L298F	LCORL_ENST00000539056.1_3'UTR	NM_153686.7	NP_710153.2	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATGCTGTTGTCAAATTCAGAT	0.383000													30	71					0	0	0.134883	0	0
LRPPRC	10128	broad.mit.edu	37	2	44128664	44128664	+	Splice_Site	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:44128664C>G	ENST00000260665.7	-	32	3422		c.e32-1			NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing						mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTCACAGCCTCTAAAATACAA	0.433000													8	31					0	0	0.058154	0	0
WWC1	23286	broad.mit.edu	37	5	167812240	167812240	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:167812240G>A	ENST00000265293.4	+	3	756	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	WWC1_ENST00000521089.1_Missense_Mutation_p.R85Q	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	85	WW 2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGGATCCTCGAGTACAATGG	0.527000													5	23					0	0	0.047766	0	0
GOLM1	51280	broad.mit.edu	37	9	88650317	88650317	+	Silent	SNP	G	G	A	rs147755244		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:88650317G>A	ENST00000388712.3	-	8	1149	c.981C>T	c.(979-981)gaC>gaT	p.D327D	GOLM1_ENST00000388711.3_Silent_p.D327D	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	327						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CCTCCTGTCCGTCGGGGATGA	0.637000											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	66					0	0	0.043863	0	0
NOS1AP	9722	broad.mit.edu	37	1	162326887	162326887	+	Silent	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:162326887C>G	ENST00000361897.5	+	8	1302	c.900C>G	c.(898-900)ctC>ctG	p.L300L	NOS1AP_ENST00000530878.1_Silent_p.L295L	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	300					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			agcagctcctccagcagcAGC	0.617000													13	45					0	0	0.055883	0	0
GPR113	165082	broad.mit.edu	37	2	26533788	26533788	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:26533788G>A	ENST00000333478.6	-	8	2793	c.2211C>T	c.(2209-2211)atC>atT	p.I737I	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.I867I|GPR113_ENST00000541401.1_Silent_p.I539I|GPR113_ENST00000311519.1_Silent_p.I936I	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	936	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACGCCTATGATGGCCAGCA	0.597000													9	12					0	0	0.058154	0	0
MBD6	114785	broad.mit.edu	37	12	57919424	57919424	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:57919424C>A	ENST00000355673.3	+	6	1029	c.673C>A	c.(673-675)Ccc>Acc	p.P225T	MBD6_ENST00000431731.2_Missense_Mutation_p.P225T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	225	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTCAATGCTCCCTCATACAA	0.652000													40	163					2.66277e-13	2.84916e-13	0.092188	1	0
AJUBA	84962	broad.mit.edu	37	14	23451383	23451383	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:23451383G>A	ENST00000262713.2	-	1	468	c.93C>T	c.(91-93)ccC>ccT	p.P31P	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Silent_p.P31P	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	31	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										TGCCCGGCCCGGGGGTCCCGT	0.677000													7	24					0	0	0.047766	0	0
AGPAT4	56895	broad.mit.edu	37	6	161575246	161575246	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:161575246C>G	ENST00000320285.4	-	4	657	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	AGPAT4_ENST00000366911.5_Missense_Mutation_p.G92A|AGPAT4_ENST00000366906.5_Missense_Mutation_p.E87Q|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000457520.2_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	149					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CGATCCTGCTCCCACTTGCGC	0.562000													11	62					0	0	0.080935	0	0
MYO15A	51168	broad.mit.edu	37	17	18045516	18045516	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:18045516C>T	ENST00000205890.5	+	24	6111	c.5773C>T	c.(5773-5775)Ctg>Ttg	p.L1925L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1925	IQ 2.|Neck or regulatory domain.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATTCCGCTCTCTGCGCCACAA	0.592000													8	24					0	0	0.069234	0	0
KRT2	3849	broad.mit.edu	37	12	53040579	53040579	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:53040579C>G	ENST00000309680.3	-	7	1435	c.1414G>C	c.(1414-1416)Gcc>Ccc	p.A472P		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	472	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ACATCTAGGGCCAGCTTCACG	0.622000													21	68					0	0	0.091800	0	0
FAT1	2195	broad.mit.edu	37	4	187541129	187541129	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:187541129A>C	ENST00000441802.2	-	10	6820	c.6611T>G	c.(6610-6612)gTg>gGg	p.V2204G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2204	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTAGCCTGCACGTGGACCAC	0.483000										HNSCC(5;0.00058)			29	102					0	0	0.134883	0	0
EDC4	23644	broad.mit.edu	37	16	67912724	67912724	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:67912724C>T	ENST00000358933.5	+	11	1508	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	423					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACCTGATTCTCAGCGATGTGC	0.567000													38	106					0	0	0.111260	0	0
NKD1	85407	broad.mit.edu	37	16	50667367	50667367	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:50667367G>C	ENST00000268459.3	+	10	1312	c.1088G>C	c.(1087-1089)aGa>aCa	p.R363T		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	363					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CACGTGGCCAGAGGGGCAAGA	0.711000													8	30					0	0	0.058154	0	0
GSN	2934	broad.mit.edu	37	9	124091231	124091231	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:124091231A>G	ENST00000373823.3	+	22	2730	c.1825A>G	c.(1825-1827)Aag>Gag	p.K609E	GSN_ENST00000545652.1_Missense_Mutation_p.K617E|GSN_ENST00000341272.2_Missense_Mutation_p.K609E|GSN_ENST00000412819.1_Missense_Mutation_p.K609E|GSN_ENST00000436847.1_Missense_Mutation_p.K620E|GSN_ENST00000449733.1_Missense_Mutation_p.K609E|GSN_ENST00000373807.1_Missense_Mutation_p.K391E|GSN_ENST00000394353.2_Missense_Mutation_p.K620E|GSN_ENST00000373806.1_Missense_Mutation_p.K85E|GSN_ENST00000373808.2_Missense_Mutation_p.K609E|GSN_ENST00000373818.4_Missense_Mutation_p.K660E			P06396	GELS_HUMAN	gelsolin	660	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GCTGAAGGACAAGAAGATGGA	0.622000													6	25					0	0	0.021553	0	0
SMG5	23381	broad.mit.edu	37	1	156233278	156233278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:156233278G>A	ENST00000361813.5	-	13	2083	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	647					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ATCAGGACCTGAAGCTTCTCC	0.602000													11	97					0	0	0.069234	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18633881	18633881	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:18633881G>A	ENST00000336349.5	-	4	2101	c.1866C>T	c.(1864-1866)atC>atT	p.I622I		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	622										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CATAACCAAAGATTTCTCTAA	0.323000													16	64					0	0	0.175082	0	0
ADRBK2	157	broad.mit.edu	37	22	26118286	26118286	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:26118286G>A	ENST00000324198.5	+	21	2128	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	646	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GTGGAAGAAAGAGTTGAACGA	0.552000													23	84					0	0	0.083992	0	0
ITPR3	3710	broad.mit.edu	37	6	33636878	33636878	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:33636878G>A	ENST00000374316.5	+	19	3194	c.2134G>A	c.(2134-2136)Gcc>Acc	p.A712T	ITPR3_ENST00000605930.1_Missense_Mutation_p.A712T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	712					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			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						GAGGCAGCTGGCCCAGGAGGC	0.602000													7	82					0	0	0.058154	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033148	52033148	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:52033148G>A	ENST00000346477.3	-	4	862	c.794C>T	c.(793-795)cCt>cTt	p.P265L	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P281L|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P281L|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P270L|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P292L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P229L	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	281	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CAGGTGTGCAGGGGGGTTGCC	0.617000													18	70					0	0	0.043863	0	0
KDM4B	23030	broad.mit.edu	37	19	5131326	5131326	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:5131326G>A	ENST00000159111.4	+	12	1773	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	KDM4B_ENST00000536461.1_Missense_Mutation_p.E553K	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	519	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGAGGAGCTAGAGGCCAAGCC	0.687000													8	26					0	0	0.047766	0	0
SLC4A10	57282	broad.mit.edu	37	2	162820729	162820729	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:162820729G>T	ENST00000375514.5	+	22	3177	c.2890G>T	c.(2890-2892)Gtg>Ttg	p.V964L	SLC4A10_ENST00000421911.1_Missense_Mutation_p.V983L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V953L|SLC4A10_ENST00000446997.1_Missense_Mutation_p.V983L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.V953L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	983					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			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						GCTTCGAAAAGTGCATCTCTT	0.378000													8	25					1.06961e-07	1.12205e-07	0.038147	1	0
AHNAK	79026	broad.mit.edu	37	11	62289230	62289230	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:62289230G>C	ENST00000378024.4	-	5	12933	c.12659C>G	c.(12658-12660)tCa>tGa	p.S4220*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4220					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGTCCTGAGACGTCAAG	0.483000													72	245					0	0	0.139131	0	0
KRT37	8688	broad.mit.edu	37	17	39580458	39580458	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:39580458C>T	ENST00000225550.3	-	1	317	c.318G>A	c.(316-318)gaG>gaA	p.E106E	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	106	Coil 1A.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ACTTCATGGTCTCCTTCTCAT	0.572000													13	54					0	0	0.105934	0	0
MUC16	94025	broad.mit.edu	37	19	9066948	9066948	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:9066948G>A	ENST00000397910.4	-	3	20701	c.20498C>T	c.(20497-20499)tCa>tTa	p.S6833L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6835	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAGCAGTGAGGTCATAGG	0.502000													10	62					0	0	0.080935	0	0
COX19	90639	broad.mit.edu	37	7	1012890	1012890	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:1012890G>A	ENST00000344111.3	-	2	210	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	41	CHCH.					cytosol				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		TTGTTATGAAGACACTTCATG	0.343000													9	56					0	0	0.047766	0	0
HTR1E	3354	broad.mit.edu	37	6	87725456	87725456	+	Missense_Mutation	SNP	C	C	T	rs143974435		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:87725456C>T	ENST00000305344.4	+	2	1107	c.404C>T	c.(403-405)aCg>aTg	p.T135M	HTR1E_ENST00000369584.1_Missense_Mutation_p.T135M	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	135					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	AGGAAGAGGACGGCCAAGAGG	0.577000													19	44					0	0	0.055883	0	0
PDYN	5173	broad.mit.edu	37	20	1961196	1961196	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:1961196G>A	ENST00000217305.2	-	4	763	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	PDYN_ENST00000540134.1_Missense_Mutation_p.R180C|PDYN_ENST00000539905.1_Missense_Mutation_p.R180C|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.R180C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGTATTTGCGCAAAAAGCCC	0.602000													26	66					0	0	0.083992	0	0
ARAP2	116984	broad.mit.edu	37	4	36230305	36230305	+	Silent	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:36230305C>G	ENST00000303965.4	-	2	1293	c.804G>C	c.(802-804)gtG>gtC	p.V268V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	268					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TACGACTTCTCACAGGTGCTA	0.418000													24	91					0	0	0.083992	0	0
IRF9	10379	broad.mit.edu	37	14	24633337	24633337	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:24633337G>C	ENST00000396864.3	+	6	930	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	IRF9_ENST00000557894.1_Missense_Mutation_p.E113Q|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	215					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GCTTCCTCCAGAGCCAGGTAC	0.522000													36	113					0	0	0.173368	0	0
SARM1	23098	broad.mit.edu	37	17	26715421	26715421	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:26715421G>A	ENST00000457710.3	+	7	2155	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	596	TIR.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CATTGATGTGGAGAAGCTGGA	0.552000													14	70					0	0	0.119110	0	0
ABCA13	154664	broad.mit.edu	37	7	48284261	48284261	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:48284261C>G	ENST00000435803.1	+	11	1375	c.1351C>G	c.(1351-1353)Ctc>Gtc	p.L451V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	451					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGATGGAGCTCTCAGAAATGC	0.428000													11	53					0	0	0.105934	0	0
FBXO41	150726	broad.mit.edu	37	2	73492491	73492491	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:73492491C>T	ENST00000521871.1	-	5	1898	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	FBXO41_ENST00000295133.5_Missense_Mutation_p.E556K|FBXO41_ENST00000520530.2_Missense_Mutation_p.E495K			Q8TF61	FBX41_HUMAN	F-box protein 41	495						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCCTCTGACTCAGTGGTTCGG	0.687000													13	40					0	0	0.119110	0	0
PRDM10	56980	broad.mit.edu	37	11	129772280	129772280	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:129772280C>T	ENST00000358825.5	-	22	3642	c.3411G>A	c.(3409-3411)caG>caA	p.Q1137Q	PRDM10_ENST00000360871.3_Silent_p.Q1133Q|PRDM10_ENST00000528746.1_Silent_p.Q1094Q|PRDM10_ENST00000526082.1_Silent_p.Q1051Q|PRDM10_ENST00000423662.2_Silent_p.Q1038Q|PRDM10_ENST00000304538.6_Silent_p.Q1000Q	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACTGTGTGGTCTGCTGTTGGC	0.547000													37	100					0	0	0.069456	0	0
EFCAB6	64800	broad.mit.edu	37	22	43924776	43924776	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:43924776G>C	ENST00000262726.7	-	32	4716	c.4463C>G	c.(4462-4464)tCa>tGa	p.S1488*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.S1336*|EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1488	EF-hand 17.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGAGATTTTTGAAGACAGCGT	0.512000													8	91					0	0	0.058154	0	0
AKAP6	9472	broad.mit.edu	37	14	33291002	33291002	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:33291002C>T	ENST00000280979.4	+	13	4153	c.3983C>T	c.(3982-3984)tCt>tTt	p.S1328F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1328					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGTAAAGACTCTTCATTTTCA	0.428000													3	58					0	0	0.115264	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73414358	73414358	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:73414358G>C	ENST00000286657.4	-	3	377	c.341C>G	c.(340-342)tCt>tGt	p.S114C	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	114					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCACCAGAGATGTCTCATG	0.463000													29	102					0	0	0.125774	0	0
GPR98	84059	broad.mit.edu	37	5	90103466	90103466	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:90103466T>C	ENST00000405460.2	+	73	14980	c.14884T>C	c.(14884-14886)Tgg>Cgg	p.W4962R	GPR98_ENST00000425867.2_Missense_Mutation_p.W623R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4962					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTTTTCCTGTGGACGTTTCC	0.468000													10	28					0	0	0.069234	0	0
EMX2	2018	broad.mit.edu	37	10	119303110	119303110	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:119303110C>T	ENST00000553456.3	+	1	1156	c.332C>T	c.(331-333)tCg>tTg	p.S111L	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.S111L	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	111						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CTATTCGCCTCGCAGCAGCGG	0.697000													17	46					0	0	0.043863	0	0
FERMT3	83706	broad.mit.edu	37	11	63990638	63990638	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:63990638A>T	ENST00000279227.5	+	14	1896	c.1801A>T	c.(1801-1803)Aat>Tat	p.N601Y	FERMT3_ENST00000345728.5_Missense_Mutation_p.N597Y	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	601					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCGCCAGTGGAATGTCAACTG	0.637000													24	70					0	0	0.091800	0	0
OXSR1	9943	broad.mit.edu	37	3	38266161	38266161	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:38266161A>C	ENST00000311806.3	+	8	1174	c.802A>C	c.(802-804)Att>Ctt	p.I268L	OXSR1_ENST00000446845.1_Missense_Mutation_p.I268L	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	268	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAGAAAAATGATTTCATTGTG	0.313000													13	24					0	0	0.105934	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27907958	27907958	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:27907958G>A	ENST00000326019.6	+	10	2212	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	644	Glu-rich.					cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AATGAAAGATGAGCCTGAAGT	0.443000													21	42					0	0	0.049695	0	0
UNC13D	201294	broad.mit.edu	37	17	73831829	73831829	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:73831829C>T	ENST00000207549.4	-	19	2005	c.1626G>A	c.(1624-1626)acG>acA	p.T542T	UNC13D_ENST00000412096.2_Silent_p.T542T	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	542	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCCACAACCGTCGTGTGGT	0.622000									Familial Hemophagocytic Lymphohistiocytosis				30	69					0	0	0.125774	0	0
FAM74A3	728495	broad.mit.edu	37	9	40716111	40716111	+	RNA	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:40716111C>T	ENST00000604146.1	+	0	450					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGACGCTGTCTGCAAGAAGA	0.537000													9	50					0	0	0.047766	0	0
GPR50	9248	broad.mit.edu	37	X	150349840	150349840	+	Silent	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:150349840C>G	ENST00000218316.3	+	2	1854	c.1785C>G	c.(1783-1785)acC>acG	p.T595T		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	595	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTCACTACCAGTACCAATG	0.537000													23	157					0	0	0.083992	0	0
CTCF	10664	broad.mit.edu	37	16	67662427	67662427	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:67662427C>G	ENST00000264010.4	+	9	2117	c.1673C>G	c.(1672-1674)tCt>tGt	p.S558C	CTCF_ENST00000401394.1_Missense_Mutation_p.S230C	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	558					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			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)		TTTGTCTGTTCTAAGTGTGGG	0.483000													37	76					0	0	0.086207	0	0
EP300	2033	broad.mit.edu	37	22	41547912	41547912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:41547912C>T	ENST00000263253.7	+	15	4112	c.2893C>T	c.(2893-2895)Cag>Tag	p.Q965*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	965					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGTGAATTCTCAGGCCATTGC	0.478000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				11	84					0	0	0.093190	0	0
ADRM1	11047	broad.mit.edu	37	20	60883183	60883183	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:60883183G>A	ENST00000253003.2	+	8	1009	c.963G>A	c.(961-963)ccG>ccA	p.P321P	LAMA5_ENST00000492698.1_5'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	321					proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AGTCGCTGCCGCAGACCGCGG	0.647000													6	17					0	0	0.021553	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801352	185801352	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:185801352C>A	ENST00000302277.6	+	4	1823	c.1229C>A	c.(1228-1230)aCt>aAt	p.T410N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	410						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTTAACATAACTATACATAAG	0.383000													23	68					4.54149e-19	4.92506e-19	0.069288	1	0
OR4C11	219429	broad.mit.edu	37	11	55371308	55371308	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:55371308G>A	ENST00000302231.4	-	1	566	c.542C>T	c.(541-543)cCc>cTc	p.P181L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTTCAACAAGGGCTGCAAATC	0.403000													16	14					0	0	0.132662	0	0
ZMYM2	7750	broad.mit.edu	37	13	20601408	20601408	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:20601408G>C	ENST00000382869.3	+	9	2052	c.1801G>C	c.(1801-1803)Gat>Cat	p.D601H	ZMYM2_ENST00000382883.3_Missense_Mutation_p.D83H|ZMYM2_ENST00000382870.2_5'UTR|ZMYM2_ENST00000382874.2_Missense_Mutation_p.D601H|ZMYM2_ENST00000382871.2_Missense_Mutation_p.D601H	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	601					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			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)		CACAATGCCTGATGGAAAACT	0.358000													3	3					0	0	0.150653	0	0
NCAPH	23397	broad.mit.edu	37	2	97035190	97035190	+	Silent	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:97035190C>G	ENST00000455200.1	+	17	2380	c.2085C>G	c.(2083-2085)ctC>ctG	p.L695L	NCAPH_ENST00000240423.4_Silent_p.L706L|NCAPH_ENST00000427946.1_Silent_p.L570L			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	706					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CTCAGAACCTCTCCATACCTC	0.433000													33	100					0	0	0.080422	0	0
ALG11	440138	broad.mit.edu	37	13	52586581	52586581	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:52586581C>T	ENST00000521508.1	+	1	32	c.27C>T	c.(25-27)tgC>tgT	p.C9C	ALG11_ENST00000523764.1_Silent_p.C9C	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GGAGCTGGTGCCTGTGCAAGT	0.567000													8	27					0	0	0.047766	0	0
PYGM	5837	broad.mit.edu	37	11	64521495	64521495	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:64521495C>T	ENST00000164139.3	-	10	1493	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A	PYGM_ENST00000377432.3_Silent_p.A277A	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	365					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.A365A(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TCACATCCCACGCCTGGCACA	0.672000													4	11					0	0	0.150653	0	0
USP47	55031	broad.mit.edu	37	11	11964241	11964241	+	Silent	SNP	T	T	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:11964241T>C	ENST00000339865.5	+	19	3232	c.2469T>C	c.(2467-2469)ccT>ccC	p.P823P	USP47_ENST00000527733.1_Silent_p.P891P|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Silent_p.P911P	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	911					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			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)		TCGAATCACCTCTCAATGAGA	0.413000													4	57					0	0	0.150653	0	0
MTOR	2475	broad.mit.edu	37	1	11187151	11187151	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:11187151C>T	ENST00000361445.4	-	45	6343	c.6267G>A	c.(6265-6267)atG>atA	p.M2089I	MTOR_ENST00000376838.1_Missense_Mutation_p.M294I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2089					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			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						TCCCTGATTTCATGTACTTCC	0.488000													8	38					0	0	0.038147	0	0
MYOM1	8736	broad.mit.edu	37	18	3129359	3129359	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:3129359G>C	ENST00000400569.3	-	18	2998	c.2665C>G	c.(2665-2667)Caa>Gaa	p.Q889E	MYOM1_ENST00000356443.4_Missense_Mutation_p.Q889E|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Intron			P52179	MYOM1_HUMAN	myomesin 1	889						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCAGGTTTTGAGAGCTACTG	0.532000											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	114					0	0	0.125774	0	0
FLG	2312	broad.mit.edu	37	1	152277136	152277136	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:152277136C>T	ENST00000368799.1	-	3	10261	c.10226G>A	c.(10225-10227)cGa>cAa	p.R3409Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3409	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGTCTTCGTCCAGTGCT	0.602000									Ichthyosis				53	169					0	0	0.139131	0	0
CCDC51	79714	broad.mit.edu	37	3	48475178	48475178	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:48475178C>A	ENST00000395694.2	-	3	501	c.416G>T	c.(415-417)cGt>cTt	p.R139L	CCDC51_ENST00000447018.1_Missense_Mutation_p.R30L|CCDC51_ENST00000442740.1_Missense_Mutation_p.R30L|CCDC51_ENST00000395696.1_Missense_Mutation_p.R139L|CCDC51_ENST00000412398.2_Missense_Mutation_p.R30L	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	139						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTGGAGACACGGTCCAAGCG	0.597000													35	88					3.90053e-15	4.21572e-15	0.163468	1	0
CPB1	1360	broad.mit.edu	37	3	148563304	148563304	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:148563304G>A	ENST00000491148.1	+	10	1206	c.872G>A	c.(871-873)cGc>cAc	p.R291H	CPB1_ENST00000282957.4_Missense_Mutation_p.R291H			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	291					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GATTTCATCCGCAACAAACTC	0.463000													27	70					0	0	0.116897	0	0
KLHL41	10324	broad.mit.edu	37	2	170377507	170377507	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:170377507G>C	ENST00000284669.1	+	5	1776	c.1699G>C	c.(1699-1701)Gac>Cac	p.D567H	KLHL41_ENST00000463400.1_3'UTR|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.D505H|BBS5_ENST00000554017.1_Missense_Mutation_p.D505H	NM_006063.2	NP_006054.2			kelch-like family member 41																		TGAAGTCAATGACATATGGAA	0.368000													8	62					0	0	0.047766	0	0
CTNNA1	1495	broad.mit.edu	37	5	138266343	138266343	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:138266343G>A	ENST00000302763.7	+	15	2282	c.2192_splice	c.e15+1	p.R731_splice	CTNNA1_ENST00000518825.1_Splice_Site_p.R731_splice|CTNNA1_ENST00000540387.1_Splice_Site_p.R361_splice|CTNNA1_ENST00000355078.5_Splice_Site_p.R628_splice	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	731					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACTTTACCCGGTGAGCAGCA	0.577000													19	78					0	0	0.062417	0	0
CACNA1D	776	broad.mit.edu	37	3	53839030	53839030	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:53839030G>A	ENST00000288139.3	+	46	5784	c.5666G>A	c.(5665-5667)aGc>aAc	p.S1889N	CACNA1D_ENST00000422281.2_Missense_Mutation_p.S1845N|CACNA1D_ENST00000544977.1_Missense_Mutation_p.S248N|CACNA1D_ENST00000350061.5_Missense_Mutation_p.S1869N	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1869					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGCTACTACAGCAGATACCCA	0.522000													14	42					0	0	0.146539	0	0
TTN	7273	broad.mit.edu	37	2	179638442	179638442	+	Silent	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:179638442C>G	ENST00000589042.1	-	32	7565	c.7341G>C	c.(7339-7341)gtG>gtC	p.V2447V	TTN_ENST00000342992.6_Silent_p.V2447V|TTN_ENST00000342175.6_Silent_p.V2401V|TTN_ENST00000460472.2_Silent_p.V2401V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V2447V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.V2447V|TTN_ENST00000359218.5_Silent_p.V2401V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2173	Ig-like 14.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGTGTTATCACGTCCACAC	0.373000													8	53					0	0	0.038147	0	0
PTPRU	10076	broad.mit.edu	37	1	29602008	29602008	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:29602008G>A	ENST00000356870.3	+	8	1303	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H	PTPRU_ENST00000345512.3_Missense_Mutation_p.R398H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R398H|PTPRU_ENST00000323874.8_Missense_Mutation_p.R398H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R398H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R398H	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	398	Fibronectin type-III 2.				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			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)		ATCCAGGCCCGTCAGCTGACC	0.567000													21	18					0	0	0.055883	0	0
COL14A1	7373	broad.mit.edu	37	8	121381598	121381598	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:121381598C>T	ENST00000297848.3	+	47	5455	c.5185C>T	c.(5185-5187)Cct>Tct	p.P1729S	COL14A1_ENST00000247781.3_Missense_Mutation_p.P1634S|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1729S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1729	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCCTGGCAGCCCTGGGCCCCC	0.582000													18	56					0	0	0.175082	0	0
LCT	3938	broad.mit.edu	37	2	136590728	136590728	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:136590728C>G	ENST00000264162.2	-	2	683	c.673G>C	c.(673-675)Gat>Cat	p.D225H		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	225	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCGGGATATCTTCAGCTCGC	0.517000													33	115					0	0	0.069456	0	0
TGM6	343641	broad.mit.edu	37	20	2375141	2375141	+	Silent	SNP	C	C	T	rs147506152	by1000genomes	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:2375141C>T	ENST00000202625.2	+	2	112	c.51C>T	c.(49-51)ggC>ggT	p.G17G	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G17G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	17					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G17G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CGAGGAATGGCGCTGCCCACC	0.647000													3	28					0	0	0.150653	0	0
NBAS	51594	broad.mit.edu	37	2	15519752	15519752	+	Silent	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:15519752G>C	ENST00000281513.5	-	30	3589	c.3564C>G	c.(3562-3564)ctC>ctG	p.L1188L	NBAS_ENST00000441750.1_Silent_p.L1068L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1188								p.L1188L(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGCTATCAGTGAGGTTGGTAG	0.428000													18	49					0	0	0.175082	0	0
SGOL2	151246	broad.mit.edu	37	2	201436564	201436564	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:201436564G>A	ENST00000357799.4	+	7	1593	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	499					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AATAACAAATGAGCAAGAGGA	0.338000													23	129					0	0	0.062417	0	0
PSMA3	5684	broad.mit.edu	37	14	58711603	58711603	+	Translation_Start_Site	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:58711603C>A	ENST00000216455.4	+	0	55				PSMA3_ENST00000554456.1_3'UTR|PSMA3_ENST00000412908.2_De_novo_Start_OutOfFrame	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3						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|interspecies interaction between organisms|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 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	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						GCGCTCCGGGCCTGGAATCCC	0.527000													14	40					9.31168e-06	9.6733e-06	0.105934	1	0
DNAH3	55567	broad.mit.edu	37	16	21011751	21011751	+	Silent	SNP	G	G	A	rs138378920		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:21011751G>A	ENST00000261383.3	-	43	6215	c.6216C>T	c.(6214-6216)ttC>ttT	p.F2072F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2072	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.F2072F(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGGACCCACGAACAGCATTG	0.493000													14	32					0	0	0.105934	0	0
ARMC8	25852	broad.mit.edu	37	3	137942337	137942337	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:137942337C>G	ENST00000469044.1	+	4	572	c.301C>G	c.(301-303)Cta>Gta	p.L101V	ARMC8_ENST00000393058.3_Missense_Mutation_p.L91V|ARMC8_ENST00000481646.1_Missense_Mutation_p.L87V|ARMC8_ENST00000489213.1_Missense_Mutation_p.L59V|ARMC8_ENST00000471453.1_Missense_Mutation_p.L87V|ARMC8_ENST00000461822.1_Missense_Mutation_p.L101V|ARMC8_ENST00000358441.2_Missense_Mutation_p.L87V|ARMC8_ENST00000491704.1_Missense_Mutation_p.L59V|ARMC8_ENST00000485396.1_Missense_Mutation_p.L59V|ARMC8_ENST00000538260.1_Missense_Mutation_p.L101V|ARMC8_ENST00000470821.1_Missense_Mutation_p.L101V	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	101							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGTCAAGTCTCTACTGGACTG	0.413000													20	78					0	0	0.055883	0	0
NRCAM	4897	broad.mit.edu	37	7	107875082	107875082	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:107875082C>T	ENST00000379028.3	-	6	645	c.175G>A	c.(175-177)Gac>Aac	p.D59N	NRCAM_ENST00000425651.2_Missense_Mutation_p.D59N|NRCAM_ENST00000413765.2_Missense_Mutation_p.D59N|NRCAM_ENST00000379024.4_Missense_Mutation_p.D59N|NRCAM_ENST00000351718.4_Missense_Mutation_p.D53N|NRCAM_ENST00000379022.4_Missense_Mutation_p.D59N			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	59	Ig-like 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCCCGAGGGTCAATAATGTAA	0.368000													20	55					0	0	0.062417	0	0
INF2	64423	broad.mit.edu	37	14	105174903	105174903	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:105174903G>A	ENST00000392634.4	+	9	1978	c.1866G>A	c.(1864-1866)cgG>cgA	p.R622R	INF2_ENST00000330634.7_Silent_p.R622R	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	622	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			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)		TGGCCCCCCGGGCCAGGAAGG	0.697000											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	28					0	0	0.093190	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351594	134351594	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:134351594G>C	ENST00000357304.4	+	15	4133	c.4078G>C	c.(4078-4080)Gag>Cag	p.E1360Q	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1360							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGGTCCCCTGAGCTCTCCTA	0.672000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	19					0	0	0.029380	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619398	64619398	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:64619398G>A	ENST00000498707.1	-	13	2356	c.2014C>T	c.(2014-2016)Cgc>Tgc	p.R672C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R644C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	672	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGGACCCAGCGCACATTGGGA	0.512000													43	225					0	0	0.111260	0	0
NCOA6	23054	broad.mit.edu	37	20	33329679	33329679	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:33329679C>T	ENST00000374796.2	-	12	6951	c.4381G>A	c.(4381-4383)Gat>Aat	p.D1461N	NCOA6_ENST00000359003.2_Missense_Mutation_p.D1461N			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1461					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGCTGCCCATCCTTTTTGGAC	0.448000													19	67					0	0	0.049695	0	0
ADPGK	83440	broad.mit.edu	37	15	73048650	73048650	+	Missense_Mutation	SNP	G	G	C	rs142833607	by1000genomes	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr15:73048650G>C	ENST00000311669.8	-	5	875	c.782C>G	c.(781-783)tCt>tGt	p.S261C	ADPGK_ENST00000567733.1_Intron	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	261	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GTGCAATCCAGAGAGGACCAC	0.517000													14	67					0	0	0.132662	0	0
CTCF	10664	broad.mit.edu	37	16	67662366	67662366	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:67662366C>G	ENST00000264010.4	+	9	2056	c.1612C>G	c.(1612-1614)Ctc>Gtc	p.L538V	CTCF_ENST00000401394.1_Missense_Mutation_p.L210V	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	538					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			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)		GAAGCAGCTTCTCGACATGCA	0.547000													34	62					0	0	0.069456	0	0
PSG6	5675	broad.mit.edu	37	19	43421931	43421931	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:43421931G>A	ENST00000187910.2	-	1	79	c.14C>T	c.(13-15)tCa>tTa	p.S5L	PSG6_ENST00000292125.2_Missense_Mutation_p.S5L|PSG6_ENST00000601833.1_Intron|PSG6_ENST00000402603.4_Missense_Mutation_p.S5L	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GGGAGGGGCTGAGAGGGGTCC	0.597000													31	101					0	0	0.074837	0	0
MCAM	4162	broad.mit.edu	37	11	119181849	119181849	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:119181849G>A	ENST00000392814.1	-	8	2172	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L	MCAM_ENST00000264036.4_Silent_p.L532L			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	532	Ig-like C2-type 3.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TGGAAGTGCTGAGGCCAGTGG	0.577000													26	145					0	0	0.091800	0	0
T	6862	broad.mit.edu	37	6	166580264	166580264	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:166580264G>A	ENST00000296946.2	-	3	755	c.287C>T	c.(286-288)gCg>gTg	p.A96V	T_ENST00000366871.3_Missense_Mutation_p.A96V	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	96					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			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)		GTTGTCCGCCGCCACGAAGTC	0.657000									Chordoma, Familial Clustering of				5	51					0	0	0.029380	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812666	31812666	+	Silent	SNP	T	T	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr21:31812666T>A	ENST00000334067.3	+	1	70	c.21T>A	c.(19-21)tcT>tcA	p.S7S		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	7						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						ACTGCAGCTCTGGAAACTTCT	0.438000													14	62					0	0	0.146539	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13915816	13915816	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:13915816C>T	ENST00000254323.2	+	3	755	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	189							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTGCCCATCTCCGAGACGCTC	0.637000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	39					0	0	0.014758	0	0
MIR519C	574466	broad.mit.edu	37	19	54189750	54189750	+	RNA	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:54189750G>A	ENST00000385053.1	+	0	28					NR_030188.1																						CTAGAGGGAAGCGCTTTCTGT	0.388000													39	126					0	0	0.104719	0	0
ZMYND11	10771	broad.mit.edu	37	10	267290	267290	+	Silent	SNP	T	T	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:267290T>C	ENST00000309776.4	+	4	860	c.312T>C	c.(310-312)gtT>gtC	p.V104V	ZMYND11_ENST00000381604.4_Silent_p.V104V|ZMYND11_ENST00000509513.2_Silent_p.V144V|ZMYND11_ENST00000381602.4_Silent_p.V104V|ZMYND11_ENST00000558098.2_Silent_p.V144V|ZMYND11_ENST00000381584.1_Silent_p.V127V|ZMYND11_ENST00000545619.1_Intron|ZMYND11_ENST00000381591.1_Silent_p.V144V|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000381607.4_Intron|ZMYND11_ENST00000402736.1_Silent_p.V144V|ZMYND11_ENST00000397962.3_Silent_p.V144V	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	104					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGTGCCCAGTTTGCAGGGTGA	0.453000													14	78					0	0	0.105934	0	0
CYLC1	1538	broad.mit.edu	37	X	83127918	83127918	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:83127918G>C	ENST00000329312.4	+	4	239	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	68					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAAACTAGAAGAAGGCCAGAA	0.343000													3	19					0	0	0.115264	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	14					0	0	0.150653	0	0
TICAM1	148022	broad.mit.edu	37	19	4817044	4817044	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:4817044G>A	ENST00000248244.5	-	2	1575	c.1346C>T	c.(1345-1347)tCa>tTa	p.S449L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	449	TIR.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GATGAAAGCTGAGTGGTCTAT	0.632000													8	57					0	0	0.038147	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070317	141070317	+	RNA	SNP	A	A	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:141070317A>G	ENST00000503395.1	+	0	1397																											CCTCTCTTAAACGGGCTTCGG	0.617000													3	1					0	0	0.150653	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													11	21					0	0	0.105934	0	0
ATP8A2	51761	broad.mit.edu	37	13	26436529	26436529	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:26436529C>G	ENST00000381655.2	+	33	3308	c.3166C>G	c.(3166-3168)Cca>Gca	p.P1056A	ATP8A2_ENST00000255283.8_Missense_Mutation_p.P991A|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1016					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCCCATTGCTCCAGATATGAG	0.532000													7	40					0	0	0.038147	0	0
LGALS4	3960	broad.mit.edu	37	19	39299490	39299490	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:39299490G>A	ENST00000307751.4	-	3	710	c.233C>T	c.(232-234)aCg>aTg	p.T78M	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	78	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCCCTGCAACGTGTTGAAGAC	0.582000													11	37					0	0	0.080935	0	0
PLEC	5339	broad.mit.edu	37	8	144997457	144997457	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:144997457C>T	ENST00000322810.4	-	31	7220	c.7051G>A	c.(7051-7053)Gcg>Acg	p.A2351T	PLEC_ENST00000398774.2_Missense_Mutation_p.A2182T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2218T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2214T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2214T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2237T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2192T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2241T|PLEC_ENST00000356346.3_Missense_Mutation_p.A2200T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2351	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGGCCTCCGCCTTCAGCCGC	0.662000													5	11					0	0	0.021553	0	0
MTMR9	66036	broad.mit.edu	37	8	11152790	11152790	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:11152790G>A	ENST00000221086.3	+	2	743	c.270G>A	c.(268-270)ttG>ttA	p.L90L	MTMR9_ENST00000526292.1_Silent_p.L5L	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	90						cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AGGAATGCTTGAATATAGCCA	0.323000													16	115					0	0	0.175082	0	0
ABCA13	154664	broad.mit.edu	37	7	48237849	48237849	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:48237849G>A	ENST00000435803.1	+	3	203	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	60					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGCAGCCCCGAGATCTACCC	0.408000													6	18					0	0	0.038147	0	0
GBP2	2634	broad.mit.edu	37	1	89579771	89579771	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:89579771C>T	ENST00000370466.3	-	7	1345	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	359					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TGGCCTCTCTCTCACTGTCCC	0.502000													23	97					0	0	0.083992	0	0
TMEM135	65084	broad.mit.edu	37	11	86868385	86868385	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:86868385C>T	ENST00000305494.5	+	5	438	c.399C>T	c.(397-399)gcC>gcT	p.A133A	TMEM135_ENST00000340353.7_Intron|TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000532959.1_Silent_p.A4A|TMEM135_ENST00000355734.4_Intron	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	133						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTTACAGGCCACAGAAACAC	0.303000													15	57					0	0	0.146539	0	0
CYP4B1	1580	broad.mit.edu	37	1	47278285	47278285	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:47278285G>A	ENST00000271153.4	+	4	521	c.485G>A	c.(484-486)cGt>cAt	p.R162H	CYP4B1_ENST00000452782.2_5'UTR|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R147H|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R162H			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	162					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GAGTCTACACGTATCATGCTG	0.572000													20	46					0	0	0.076483	0	0
MC4R	4160	broad.mit.edu	37	18	58039474	58039474	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:58039474C>T	ENST00000299766.3	-	1	527	c.109G>A	c.(109-111)Gat>Aat	p.D37N		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	37			D -> V (in obesity; dbSNP:rs13447325).		feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CACCCTCCATCAGAGTAGCCT	0.512000													15	44					0	0	0.146539	0	0
NUP205	23165	broad.mit.edu	37	7	135292096	135292096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:135292096C>T	ENST00000285968.6	+	22	3198	c.3172C>T	c.(3172-3174)Cag>Tag	p.Q1058*		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1058					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGAATCTCCTCAGCTGGCTGA	0.498000													21	38					0	0	0.062417	0	0
AJUBA	84962	broad.mit.edu	37	14	23451250	23451250	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:23451250G>A	ENST00000262713.2	-	1	601	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q76*	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	76	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										GAGCCGCGCTGATTTCGCTCA	0.687000													5	13					0	0	0.014758	0	0
GHR	2690	broad.mit.edu	37	5	42718786	42718786	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:42718786G>A	ENST00000230882.4	+	10	1367	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	GHR_ENST00000537449.1_Missense_Mutation_p.D206N|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.D371N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	393					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGTGAACCTGACATTCTGGA	0.473000													20	76					0	0	0.083992	0	0
RANBP2	5903	broad.mit.edu	37	2	109399112	109399112	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:109399112G>A	ENST00000283195.6	+	28	9289	c.9163G>A	c.(9163-9165)Gca>Aca	p.A3055T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3055					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGTATCACTGGCAGCAGAATT	0.368000													21	87					0	0	0.076483	0	0
DNAH11	8701	broad.mit.edu	37	7	21750198	21750198	+	Silent	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:21750198C>G	ENST00000328843.6	+	42	6763	c.6732C>G	c.(6730-6732)ctC>ctG	p.L2244L	DNAH11_ENST00000409508.3_Silent_p.L2237L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2244	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTATAGGTCTCTTCTCATCCA	0.348000									Kartagener syndrome				4	19					0	0	0.014758	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976157	34976157	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:34976157C>T	ENST00000242315.3	+	4	655	c.573C>T	c.(571-573)atC>atT	p.I191I	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Silent_p.I191I	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	191							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGGACAACATCAACTTGCTGC	0.493000													14	36					0	0	0.119110	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747142	10747142	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:10747142C>T	ENST00000586078.1	+	15	1486	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	SLC44A2_ENST00000335757.5_Silent_p.F459F|SLC44A2_ENST00000407327.4_Silent_p.F457F	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	459					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGGCCAACTTCGTGCTGGCGC	0.647000													34	76					0	0	0.173368	0	0
GPR113	165082	broad.mit.edu	37	2	26533572	26533572	+	Silent	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:26533572G>C	ENST00000333478.6	-	8	3009	c.2427C>G	c.(2425-2427)ctC>ctG	p.L809L	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.L939L|GPR113_ENST00000541401.1_Silent_p.L611L|GPR113_ENST00000311519.1_Silent_p.L1008L	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1008					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGGTGTTGAGAATGGTGA	0.517000													6	10					0	0	0.021553	0	0
MAPT	4137	broad.mit.edu	37	17	44061080	44061080	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:44061080C>G	ENST00000344290.5	+	6	1232	c.910C>G	c.(910-912)Cac>Gac	p.H304D	MAPT_ENST00000351559.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.H304D|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.H304D|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.H304D|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000535772.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	304					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GTTCACGTTTCACGTGGAAAT	0.622000													12	61					0	0	0.080935	0	0
REV3L	5980	broad.mit.edu	37	6	111678329	111678329	+	Splice_Site	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:111678329C>G	ENST00000435970.1	-	20	7655		c.e20-1		REV3L_ENST00000358835.3_Splice_Site|REV3L_ENST00000368802.3_Splice_Site|REV3L_ENST00000368805.1_Splice_Site			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TATCTGATATCTAAAAAACAA	0.269000								DNA polymerases (catalytic subunits)					10	35					0	0	0.058154	0	0
ZAN	7455	broad.mit.edu	37	7	100346010	100346010	+	RNA	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:100346010C>T	ENST00000542585.1	+	0	1314				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTCCAGACTTCCGGGGATGGT	0.537000													12	47					0	0	0.093190	0	0
KDR	3791	broad.mit.edu	37	4	55968137	55968137	+	Silent	SNP	G	G	A	rs138304068		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:55968137G>A	ENST00000263923.4	-	15	2488	c.2193C>T	c.(2191-2193)gaC>gaT	p.D731D		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	731	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.D731D(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGGCCTTCGTCCTCCTTCC	0.443000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			18	65					0	0	0.049695	0	0
KYNU	8942	broad.mit.edu	37	2	143799685	143799685	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:143799685T>C	ENST00000264170.4	+	14	1600	c.1342T>C	c.(1342-1344)Tat>Cat	p.Y448H	KYNU_ENST00000409512.1_Missense_Mutation_p.Y448H	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	448					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ccatgatgtttataaaTTTAC	0.363000													13	63					0	0	0.105934	0	0
HECTD4	283450	broad.mit.edu	37	12	112703016	112703016	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:112703016G>C	ENST00000550722.1	-	16	2545	c.2150C>G	c.(2149-2151)tCt>tGt	p.S717C	HECTD4_ENST00000430131.2_Missense_Mutation_p.S429C|HECTD4_ENST00000377560.5_Missense_Mutation_p.S679C	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		ATCATCTTTAGAGACAGTTTG	0.313000													13	40					0	0	0.093190	0	0
GPC5	2262	broad.mit.edu	37	13	92101090	92101090	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:92101090C>T	ENST00000377067.3	+	2	611	c.239C>T	c.(238-240)gCg>gTg	p.A80V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	80						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			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)				TATCAGATTGCGGCTCGCCAG	0.433000													17	50					0	0	0.062417	0	0
CCP110	9738	broad.mit.edu	37	16	19548342	19548342	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:19548342G>A	ENST00000396212.2	+	5	1787	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	CCP110_ENST00000381396.5_Missense_Mutation_p.E451K|CCP110_ENST00000396208.2_Missense_Mutation_p.E451K	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	451	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TGAAGTCAAAGAAGATGTGGT	0.358000													13	70					0	0	0.119110	0	0
CNDP2	55748	broad.mit.edu	37	18	72180833	72180833	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:72180833G>A	ENST00000324262.4	+	8	1098	c.782G>A	c.(781-783)gGc>gAc	p.G261D	CNDP2_ENST00000579847.1_Missense_Mutation_p.G261D|CNDP2_ENST00000324301.8_Missense_Mutation_p.G177D	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	261						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTGATCCCCGGCATTAACGAG	0.607000													3	30					0	0	0.115264	0	0
NEIL3	55247	broad.mit.edu	37	4	178272586	178272586	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:178272586C>T	ENST00000264596.3	+	7	1040	c.922C>T	c.(922-924)Cat>Tat	p.H308Y	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	308					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAGGGTGGATCATGTTATGGA	0.398000								Base excision repair (BER), DNA glycosylases					34	75					0	0	0.173368	0	0
TMEM183A	92703	broad.mit.edu	37	1	202992016	202992016	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:202992016C>T	ENST00000367242.3	+	8	1059	c.979C>T	c.(979-981)Cat>Tat	p.H327Y		NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			CATGCGGCATCATCGAGTGAG	0.488000													31	114					0	0	0.111260	0	0
GYS2	2998	broad.mit.edu	37	12	21757451	21757451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:21757451C>A	ENST00000261195.2	-	1	330	c.76G>T	c.(76-78)Gag>Tag	p.E26*		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	26					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGTAACTCCTCCACAGGAAGT	0.507000													4	101					0.150653	0.153523	0.150653	1	0
EPM2AIP1	9852	broad.mit.edu	37	3	37034418	37034418	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:37034418C>T	ENST00000322716.5	-	1	377	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	51						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ACGTCGCGTTCGCGGGTAGCT	0.677000													9	30					0	0	0.047766	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303720	151303720	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chrX:151303720C>T	ENST00000370323.4	-	4	689	c.373G>A	c.(373-375)Gac>Aac	p.D125N	MAGEA10_ENST00000244096.3_Missense_Mutation_p.D125N|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	125								p.D125H(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)					GACTCACTGTCTGGCAGGACC	0.502000													47	146					0	0	0.139131	0	0
LRRC1	55227	broad.mit.edu	37	6	53761313	53761313	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:53761313C>T	ENST00000370888.1	+	5	741	c.464C>T	c.(463-465)tCa>tTa	p.S155L		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	155						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AACCTGGCTTCACTGGAACTG	0.368000													14	51					0	0	0.132662	0	0
HN1L	90861	broad.mit.edu	37	16	1741947	1741947	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:1741947C>T	ENST00000248098.3	+	3	354	c.297C>T	c.(295-297)gtC>gtT	p.V99V	HN1L_ENST00000382711.5_Silent_p.V83V|HN1L_ENST00000561516.1_Intron|HN1L_ENST00000382710.4_Silent_p.V87V|HN1L_ENST00000562684.1_Silent_p.V127V|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000569256.1_3'UTR	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	99						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGTCTCCGGTCACTGCCACTT	0.542000													15	46					0	0	0.160694	0	0
SLC9A3	6550	broad.mit.edu	37	5	482690	482690	+	Missense_Mutation	SNP	G	G	C	rs141238439		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:482690G>C	ENST00000264938.3	-	7	1338	c.1329C>G	c.(1327-1329)atC>atG	p.I443M	SLC9A3_ENST00000514375.1_Missense_Mutation_p.I443M	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	443						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGAACACTACGATGATGGTGG	0.662000													15	66					0	0	0.132662	0	0
CES3	23491	broad.mit.edu	37	16	67005131	67005131	+	Silent	SNP	G	G	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:67005131G>T	ENST00000303334.4	+	10	1271	c.1200G>T	c.(1198-1200)tcG>tcT	p.S400S	CES3_ENST00000394037.1_Silent_p.S400S|CES3_ENST00000543856.1_Silent_p.S39S	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	400						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GAAGCAACTCGGACGCACAAG	0.537000													16	33					2.32078e-09	2.45057e-09	0.132662	1	0
NLRP6	171389	broad.mit.edu	37	11	280967	280967	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:280967G>A	ENST00000534750.1	+	4	1438	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	NLRP6_ENST00000312165.5_Silent_p.T411T	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	411	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTCGCGCACGTCCAAGACCA	0.652000													43	134					0	0	0.098360	0	0
PDE4D	5144	broad.mit.edu	37	5	58289223	58289223	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:58289223C>G	ENST00000340635.6	-	7	1166	c.991G>C	c.(991-993)Gag>Cag	p.E331Q	PDE4D_ENST00000405755.2_Missense_Mutation_p.E209Q|PDE4D_ENST00000360047.5_Missense_Mutation_p.E195Q|PDE4D_ENST00000358923.6_Missense_Mutation_p.E29Q|PDE4D_ENST00000507116.1_Missense_Mutation_p.E267Q|PDE4D_ENST00000502484.2_Missense_Mutation_p.E270Q|PDE4D_ENST00000546160.1_Missense_Mutation_p.E270Q|PDE4D_ENST00000503258.1_Missense_Mutation_p.E201Q|PDE4D_ENST00000317118.8_Missense_Mutation_p.E40Q	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	331					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GATATAAACTCTGACACTTGA	0.343000													12	41					0	0	0.105934	0	0
RACGAP1	29127	broad.mit.edu	37	12	50392997	50392997	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:50392997C>G	ENST00000434422.1	-	10	1107	c.806G>C	c.(805-807)aGa>aCa	p.R269T	RACGAP1_ENST00000454520.2_Missense_Mutation_p.R269T|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R269T|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R269T|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R269T|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R269T|RACGAP1_ENST00000547061.1_5'UTR			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	269	Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TGTCTCAGTTCTTGGCTCCAG	0.443000													10	36					0	0	0.093190	0	0
KALRN	8997	broad.mit.edu	37	3	124380748	124380748	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:124380748G>A	ENST00000360013.3	+	45	6442	c.6315G>A	c.(6313-6315)atG>atA	p.M2105I	KALRN_ENST00000393496.1_Missense_Mutation_p.M446I|KALRN_ENST00000428018.2_Missense_Mutation_p.M376I|KALRN_ENST00000291478.4_Missense_Mutation_p.M408I|KALRN_ENST00000459915.1_Missense_Mutation_p.M197I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2104					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.M2105I(1)|p.M408I(1)		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						ATGACATGATGAATCTAGGAC	0.507000													28	89					0	0	0.108266	0	0
PTPN14	5784	broad.mit.edu	37	1	214556663	214556663	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:214556663C>T	ENST00000366956.5	-	13	2729	c.2535G>A	c.(2533-2535)atG>atA	p.M845I	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	845					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCCTGATCATCATCTCTCTCT	0.512000													18	61					0	0	0.043863	0	0
BTAF1	9044	broad.mit.edu	37	10	93719794	93719794	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:93719794G>C	ENST00000265990.6	+	11	1454	c.1146G>C	c.(1144-1146)atG>atC	p.M382I	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	382					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TAAAACACATGAACGAAACAG	0.383000													29	87					0	0	0.125774	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857019	19857019	+	RNA	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:19857019C>T	ENST00000548109.1	+	0	72																											ATTATACTCTCAGCATCCTGG	0.383000													5	144					0	0	0.029380	0	0
ZNF496	84838	broad.mit.edu	37	1	247492661	247492661	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:247492661C>T	ENST00000294753.4	-	3	684	c.220G>A	c.(220-222)Gag>Aag	p.E74K	ZNF496_ENST00000366498.2_Missense_Mutation_p.E74K	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	74	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GTGTGCCTCTCAGGCCGCAGC	0.711000													8	29					0	0	0.038147	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256527	24256527	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:24256527G>T	ENST00000538205.1	+	10	1213	c.666G>T	c.(664-666)aaG>aaT	p.K222N	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.K301N|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.K222N	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	301	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TGGGGAAAAAGATCCACGACC	0.512000													7	25					3.09899e-07	3.24031e-07	0.047766	1	0
POLQ	10721	broad.mit.edu	37	3	121207251	121207251	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:121207251C>T	ENST00000264233.5	-	16	4655	c.4527G>A	c.(4525-4527)atG>atA	p.M1509I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1509					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGGGTTCTTTCATTTGCATAT	0.318000								DNA polymerases (catalytic subunits)					18	58					0	0	0.043863	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27907945	27907945	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:27907945G>A	ENST00000326019.6	+	10	2199	c.1917G>A	c.(1915-1917)atG>atA	p.M639I		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	639						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CAACTCTAATGAGAATGAAAG	0.413000													18	46					0	0	0.175082	0	0
STARD13	90627	broad.mit.edu	37	13	33701584	33701584	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:33701584G>A	ENST00000336934.5	-	6	1964	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	STARD13_ENST00000399365.3_Silent_p.L498L|STARD13_ENST00000255486.4_Silent_p.L608L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	616					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGAAGCGCTGGAGCAGGCTCA	0.642000													5	15					0	0	0.014758	0	0
XIRP1	165904	broad.mit.edu	37	3	39228921	39228921	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:39228921G>A	ENST00000340369.3	-	2	2244	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	XIRP1_ENST00000396251.1_Silent_p.G672G|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	672							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CACAGGGACGGCCTGAGGCCT	0.612000													12	54					0	0	0.093190	0	0
CDH19	28513	broad.mit.edu	37	18	64176484	64176484	+	Splice_Site	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr18:64176484C>G	ENST00000262150.2	-	11	1869		c.e11-1		CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GCTGTGTTATCTAAAACAAAA	0.343000													9	17					0	0	0.058154	0	0
FUT2	2524	broad.mit.edu	37	19	49206875	49206875	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:49206875G>A	ENST00000425340.2	+	2	779	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	FUT2_ENST00000391876.4_Missense_Mutation_p.R221Q	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	221					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GCCGACCGGCGATACCTACAG	0.607000													23	95					0	0	0.076483	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420272	69420272	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:69420272G>A	ENST00000357336.3	+	13	1443	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	388										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GGTCAAAGAAGGAAATAATAC	0.259000													3	45					0	0	0.038147	0	0
ABL2	27	broad.mit.edu	37	1	179084052	179084052	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:179084052C>T	ENST00000502732.1	-	9	1725	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	ABL2_ENST00000408940.3_Missense_Mutation_p.E472K|ABL2_ENST00000367623.4_Missense_Mutation_p.E487K|ABL2_ENST00000344730.3_Missense_Mutation_p.E493K|ABL2_ENST00000507173.1_Missense_Mutation_p.E487K|ABL2_ENST00000392043.3_Missense_Mutation_p.E487K|ABL2_ENST00000504405.1_Missense_Mutation_p.E472K|ABL2_ENST00000512653.1_Missense_Mutation_p.E493K|ABL2_ENST00000511413.1_Missense_Mutation_p.E508K	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	508	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGGCATCCCTCAGGCTGTTCC	0.403000			T	ETV6	AML								22	72					0	0	0.055883	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184367411	184367411	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:184367411C>T	ENST00000504169.1	+	3	781	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	192	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GAACTCAGCTCGGAGCTCTGG	0.512000													6	44					0	0	0.029380	0	0
MOS	4342	broad.mit.edu	37	8	57025568	57025568	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:57025568G>A	ENST00000311923.1	-	1	973	c.974C>T	c.(973-975)gCg>gTg	p.A325V		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	325	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.A325V(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CCTCTGCGCCGCGCTGGGTCT	0.627000													8	32					0	0	0.058154	0	0
ARSI	340075	broad.mit.edu	37	5	149677914	149677914	+	Silent	SNP	G	G	A	rs150264448	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:149677914G>A	ENST00000328668.7	-	2	1152	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	191						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTGCAGGTCGAAGCCGCACA	0.627000													5	23					0	0	0.014758	0	0
ZNF580	51157	broad.mit.edu	37	19	56154207	56154207	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:56154207C>T	ENST00000543039.1	+	1	790	c.333C>T	c.(331-333)cgC>cgT	p.R111R	ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000545125.1_Silent_p.R111R|ZNF580_ENST00000325333.5_Silent_p.R111R	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGAGCCACCGCGTGTCGCACT	0.731000													3	17					0	0	0.115264	0	0
CFTR	1080	broad.mit.edu	37	7	117227829	117227829	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:117227829C>A	ENST00000003084.6	+	12	1753	c.1621C>A	c.(1621-1623)Ctt>Att	p.L541I	CFTR_ENST00000454343.1_Missense_Mutation_p.L480I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	541	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CAATATAGTTCTTGGAGAAGG	0.358000									Cystic Fibrosis				18	29					5.35356e-11	5.69037e-11	0.076483	1	0
SOX2	6657	broad.mit.edu	37	3	181430864	181430864	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:181430864C>A	ENST00000325404.1	+	1	1143	c.716C>A	c.(715-717)tCc>tAc	p.S239Y	SOX2_ENST00000431565.2_Missense_Mutation_p.S239Y	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	239					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GCTCTTGGCTCCATGGGTTCG	0.652000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						18	61					9.16793e-09	9.64887e-09	0.160694	1	0
ESPL1	9700	broad.mit.edu	37	12	53664560	53664560	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:53664560G>A	ENST00000257934.4	+	5	1438	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	ESPL1_ENST00000552462.1_Silent_p.L449L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	449					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCCAAGAGCTGACGGACCACA	0.547000													20	61					0	0	0.055883	0	0
ZNF490	57474	broad.mit.edu	37	19	12721450	12721450	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:12721450G>A	ENST00000311437.6	-	1	167	c.45C>T	c.(43-45)ctC>ctT	p.L15L	ZNF490_ENST00000465656.1_Intron	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTGCTCCTCGAGGGGTCGCT	0.567000													14	30					0	0	0.132662	0	0
SCN2B	6327	broad.mit.edu	37	11	118037736	118037736	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:118037736C>A	ENST00000278947.5	-	4	755	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	172					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		AAGATGACCACAGCCAGGAAG	0.597000													12	59					0.105934	0.108641	0.105934	1	0
SAMD1	90378	broad.mit.edu	37	19	14199324	14199324	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:14199324G>A	ENST00000533683.2	-	5	1491	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C		NM_138352.1	NP_612361.1	Q6SPF0	SAMD1_HUMAN	sterile alpha motif domain containing 1	508						cytoplasm|extracellular region				endometrium(3)	3		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		GGCCCGAGGCGGATGGACAGG	0.577000													10	36					0	0	0.058154	0	0
SRSF5	6430	broad.mit.edu	37	14	70237755	70237755	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:70237755G>A	ENST00000553521.1	+	8	1937	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	SRSF5_ENST00000553635.1_Missense_Mutation_p.E159K|SRSF5_ENST00000557154.1_Missense_Mutation_p.E162K|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Missense_Mutation_p.E162K			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	162	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding			large_intestine(1)|liver(1)	2						GAATGCTATTGAAAAACTTTC	0.328000													14	51					0	0	0.119110	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098944	220098944	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:220098944G>A	ENST00000323348.5	+	9	1312	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	ANKZF1_ENST00000410034.3_Missense_Mutation_p.E380K|ANKZF1_ENST00000409849.1_Missense_Mutation_p.E170K	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	380						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TACTGAGGAAGAAATAAGAAA	0.468000													9	51					0	0	0.047766	0	0
APLP2	334	broad.mit.edu	37	11	129999970	129999970	+	Missense_Mutation	SNP	G	G	A	rs140505383	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:129999970G>A	ENST00000263574.5	+	11	1565	c.1493G>A	c.(1492-1494)cGt>cAt	p.R498H	APLP2_ENST00000528499.1_Missense_Mutation_p.R442H|APLP2_ENST00000543137.1_Missense_Mutation_p.R405H|APLP2_ENST00000539648.1_Missense_Mutation_p.R286H|APLP2_ENST00000345598.5_Missense_Mutation_p.R269H|APLP2_ENST00000338167.5_Missense_Mutation_p.R498H|APLP2_ENST00000278756.7_Missense_Mutation_p.R508H	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	498					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CGTTATGTCCGTGCTGAGAAC	0.468000													4	124					0	0	0.150653	0	0
RELN	5649	broad.mit.edu	37	7	103151303	103151303	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:103151303A>G	ENST00000424685.2	-	51	8428	c.8269T>C	c.(8269-8271)Ttc>Ctc	p.F2757L	RELN_ENST00000343529.5_Missense_Mutation_p.F2757L|RELN_ENST00000428762.1_Missense_Mutation_p.F2757L|CTB-107G13.1_ENST00000422488.1_RNA			P78509	RELN_HUMAN	reelin	2757					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCACCTTGAATTGCATAATC	0.388000													8	28					0	0	0.047766	0	0
FAM188B	84182	broad.mit.edu	37	7	30830790	30830790	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:30830790C>T	ENST00000265299.6	+	5	750	c.673C>T	c.(673-675)Cac>Tac	p.H225Y	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	225										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGATTCTTTTCACAGACACTA	0.512000													48	149					0	0	0.139131	0	0
BANK1	55024	broad.mit.edu	37	4	102751026	102751026	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:102751026G>C	ENST00000504592.1	+	6	505	c.87G>C	c.(85-87)ttG>ttC	p.L29F	BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.L14F|BANK1_ENST00000322953.4_Missense_Mutation_p.L44F|BANK1_ENST00000428908.1_Intron			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	44	Interaction with ITPR2.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTCTGTACTTGACAGAAGTAT	0.333000													4	47					0	0	0.150653	0	0
IL10RA	3587	broad.mit.edu	37	11	117869847	117869847	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:117869847G>A	ENST00000227752.3	+	7	1348	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	IL10RA_ENST00000545409.1_Missense_Mutation_p.E261K|IL10RA_ENST00000541785.1_Missense_Mutation_p.E390K|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	410						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TCAAAACTCTGAGGGCCGGGC	0.652000													10	41					0	0	0.058154	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671493	39671493	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr21:39671493C>G	ENST00000398930.1	+	4	664	c.310C>G	c.(310-312)Cat>Gat	p.H104D	KCNJ15_ENST00000328656.3_Missense_Mutation_p.H104D|KCNJ15_ENST00000398934.1_Missense_Mutation_p.H104D|KCNJ15_ENST00000398938.2_Missense_Mutation_p.H104D|KCNJ15_ENST00000398932.1_Missense_Mutation_p.H104D			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	104					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CATTTCAAATCATACCCCCTG	0.493000													20	73					0	0	0.062417	0	0
CCDC88A	55704	broad.mit.edu	37	2	55561402	55561402	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:55561402A>T	ENST00000436346.1	-	15	3396	c.2555T>A	c.(2554-2556)tTa>tAa	p.L852*	CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.L852*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.L852*|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.L852*|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	852					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ATTTTCTTCTAATGTGGTATC	0.323000													15	70					0	0	0.132662	0	0
CD163	9332	broad.mit.edu	37	12	7639395	7639395	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr12:7639395G>A	ENST00000359156.4	-	10	2360	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	CD163_ENST00000432237.2_Missense_Mutation_p.R720C|CD163_ENST00000396620.3_Missense_Mutation_p.R753C|CD163_ENST00000541972.1_Missense_Mutation_p.R708C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	720	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTTACCAGGCGAAGTTGACCA	0.448000													20	67					0	0	0.043863	0	0
SH3TC1	54436	broad.mit.edu	37	4	8230222	8230222	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:8230222C>T	ENST00000539824.1	+	12	2947	c.2573C>T	c.(2572-2574)tCg>tTg	p.S858L	SH3TC1_ENST00000245105.3_Missense_Mutation_p.S934L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	934							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CGGCTGTTCTCGAGGCTGCCC	0.711000													12	27					0	0	0.080935	0	0
DOCK2	1794	broad.mit.edu	37	5	169503008	169503008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:169503008C>T	ENST00000256935.8	+	47	4866	c.4786C>T	c.(4786-4788)Cga>Tga	p.R1596*	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.R657*|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.R1088*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1596	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATAACTTGCGACCCTTCCA	0.502000													34	86					0	0	0.183431	0	0
SH3BP4	23677	broad.mit.edu	37	2	235962446	235962446	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:235962446G>A	ENST00000409212.1	+	6	3385	c.2878G>A	c.(2878-2880)Gac>Aac	p.D960N	SH3BP4_ENST00000392011.2_Missense_Mutation_p.D960N|SH3BP4_ENST00000344528.4_Missense_Mutation_p.D960N			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	960					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGACCAGGACGACTTCGTGAT	0.622000													10	72					0	0	0.069234	0	0
CHRD	8646	broad.mit.edu	37	3	184100495	184100495	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr3:184100495C>T	ENST00000204604.1	+	8	1161	c.915C>T	c.(913-915)ctC>ctT	p.L305L	CHRD_ENST00000450923.1_Silent_p.L305L|CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Silent_p.L305L|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	305	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTCACTCTCAGTGACACAG	0.592000													24	93					0	0	0.083992	0	0
FAT1	2195	broad.mit.edu	37	4	187531171	187531171	+	Splice_Site	SNP	T	T	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr4:187531171T>A	ENST00000441802.2	-	15	10063		c.e15-2			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATACGGCCCCTGAATAGAAAT	0.413000										HNSCC(5;0.00058)			5	12					0	0	0.014758	0	0
CA4	762	broad.mit.edu	37	17	58235751	58235751	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:58235751G>A	ENST00000300900.4	+	7	787	c.688G>A	c.(688-690)Gat>Aat	p.D230N		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	230					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ACCGACCTGCGATGAGAAGGT	0.612000													11	32					0	0	0.080935	0	0
PEX1	5189	broad.mit.edu	37	7	92146808	92146808	+	Missense_Mutation	SNP	G	G	C	rs137856931		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:92146808G>C	ENST00000248633.4	-	5	1116	c.1021C>G	c.(1021-1023)Cca>Gca	p.P341A	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.P341A	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	341					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGTTGCTTTGGAGAAAGTAGC	0.368000													13	39					0	0	0.093190	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015938	145015938	+	Silent	SNP	C	C	T	rs144857876	byFrequency	TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:145015938C>T	ENST00000369359.4	-	3	401	c.363G>A	c.(361-363)ccG>ccA	p.P121P	PDE4DIP_ENST00000493130.2_Silent_p.P50P|PDE4DIP_ENST00000478649.2_Silent_p.P50P|PDE4DIP_ENST00000530740.1_Silent_p.P121P|PDE4DIP_ENST00000313382.9_Silent_p.P50P|PDE4DIP_ENST00000369348.3_Silent_p.P121P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.P121P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTGCACAAACGGGACCTTTT	0.443000			T	PDGFRB	MPD								29	492					0	0	0.116897	0	0
NR1D1	9572	broad.mit.edu	37	17	38251870	38251870	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:38251870G>A	ENST00000246672.3	-	5	1705	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	359					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GGAGCCTGGCGCAGACCATTT	0.637000													4	84					0	0	0.014758	0	0
DGAT2	84649	broad.mit.edu	37	11	75508295	75508295	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:75508295G>C	ENST00000228027.7	+	6	987	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	DGAT2_ENST00000376262.3_Missense_Mutation_p.E200Q	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	243					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GGGTGCGGCTGAGTCTCTGAG	0.572000													24	68					0	0	0.076483	0	0
CD3EAP	10849	broad.mit.edu	37	19	45910392	45910392	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr19:45910392G>A	ENST00000309424.3	+	2	551	c.63G>A	c.(61-63)aaG>aaA	p.K21K	CD3EAP_ENST00000589804.1_Silent_p.K23K	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	21					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)		TTACCGCGAAGCCCCCAGCCT	0.597000													17	60					0	0	0.043863	0	0
ZAN	7455	broad.mit.edu	37	7	100345237	100345237	+	RNA	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:100345237C>G	ENST00000542585.1	+	0	1144				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGTTTCTGTCAATTACACAG	0.512000													14	45					0	0	0.132662	0	0
ACLY	47	broad.mit.edu	37	17	40063716	40063716	+	Silent	SNP	G	G	A			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:40063716G>A	ENST00000352035.2	-	7	856	c.726C>T	c.(724-726)ttC>ttT	p.F242F	ACLY_ENST00000353196.1_Silent_p.F242F|ACLY_ENST00000393896.2_Silent_p.F242F|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Silent_p.F242F	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	242					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	p.F242F(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCTCCCGCCCGAAGGGGGGAG	0.582000													4	72					0	0	0.029380	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43630162	43630162	+	Silent	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:43630162C>T	ENST00000431635.2	-	10	1186	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	EBNA1BP2_ENST00000236051.2_Silent_p.K291K	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	291					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCCAGGTCTCTTCTACAGAA	0.448000													12	66					0	0	0.105934	0	0
CCNE2	9134	broad.mit.edu	37	8	95902690	95902690	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:95902690C>T	ENST00000520509.1	-	6	658	c.406G>A	c.(406-408)Gac>Aac	p.D136N	CCNE2_ENST00000396133.3_Missense_Mutation_p.D136N|CCNE2_ENST00000308108.4_Missense_Mutation_p.D136N|CCNE2_ENST00000523476.1_5'UTR			O96020	CCNE2_HUMAN	cyclin E2	136					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGTTCCAAGTCAGAATGCAGA	0.373000													45	190					0	0	0.124865	0	0
OR51M1	390059	broad.mit.edu	37	11	5411115	5411115	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:5411115C>T	ENST00000328611.3	+	1	509	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	163						integral to membrane	olfactory receptor activity	p.R163R(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCATCTTCCGGGGACCTGT	0.542000													42	180					0	0	0.131918	0	0
MALAT1	378938	broad.mit.edu	37	11	65270662	65270662	+	RNA	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:65270662G>C	ENST00000534336.1	+	0	5430					NR_002819.2																						GCTGTTAACAGATAAGTTTAA	0.408000													5	12					0	0	0.021553	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25197546	25197546	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:25197546C>G	ENST00000376376.3	-	4	424	c.408G>C	c.(406-408)atG>atC	p.M136I	PRTFDC1_ENST00000320152.6_Intron|PRTFDC1_ENST00000376378.1_Intron|RN7SKP241_ENST00000464584.2_RNA			Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	0					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						cacagctactcatataccctt	0.512000													12	22					0	0	0.080935	0	0
TPM1	7168	broad.mit.edu	37	15	63336307	63336307	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr15:63336307G>C	ENST00000357980.4	+	3	401	c.322G>C	c.(322-324)Gat>Cat	p.D108H	TPM1_ENST00000403994.3_Missense_Mutation_p.D66H|TPM1_ENST00000358278.3_Missense_Mutation_p.D66H|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000288398.6_Missense_Mutation_p.D66H|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559556.1_Missense_Mutation_p.D66H			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	66					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						GGCTCTCAAAGATGCCCAGGA	0.567000													10	38					0	0	0.069234	0	0
EPHA2	1969	broad.mit.edu	37	1	16475129	16475130	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:16475129_16475130delCA	ENST00000358432.5	-	3	720_721	c.566_567delTG	c.(565-567)gfs	p.V189fs	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	189	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGAGCAGCGCCACACAGGCACC	0.644													28	56	---	---	---	---					
IRF2BP2	359948	broad.mit.edu	37	1	234743542	234743543	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr1:234743542_234743543insCC	ENST00000366609.3	-	2	1134_1135	c.1104_1105insGG	c.(1102-1107)ggccccfs	p.P369fs	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Frame_Shift_Ins_p.P353fs|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			ATCTTAGGGGGCCCGACTTCAC	0.520													11	59	---	---	---	---					
PLA2R1	22925	broad.mit.edu	37	2	160826691	160826692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:160826691_160826692insC	ENST00000283243.7	-	18	2833_2834	c.2627_2628insG	c.(2626-2628)gctfs	p.A876fs	PLA2R1_ENST00000392771.1_Frame_Shift_Ins_p.A876fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	876	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTTCTTGAAGTCCAATCCACCA	0.322													10	55	---	---	---	---					
CASP8	841	broad.mit.edu	37	2	202131502	202131505	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr2:202131502_202131505delTTTC	ENST00000358485.4	+	2	666_669	c.470_473delTTTC	c.(469-474)atfs	p.IS157fs	CASP8_ENST00000432109.2_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000392258.3_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000392259.2_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000392266.3_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000323492.7_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.IS98fs	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	98	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGGCTCAAATTTCTGCCTACAGG	0.495										HNSCC(4;0.00038)			7	29	---	---	---	---					
ANXA2R	389289	broad.mit.edu	37	5	43040059	43040060	+	Frame_Shift_Ins	INS	-	-	GAAC			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr5:43040059_43040060insGAAC	ENST00000314890.3	-	2	1508_1509	c.89_90insGTTC	c.(88-90)tgafs	p.*30fs		NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	30							receptor activity										CACGATCTTCTGAACTCACAAT	0.569											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	68	---	---	---	---					
ABCC10	89845	broad.mit.edu	37	6	43400148	43400148	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:43400148delG	ENST00000244533.3	+	1	660	c.301delG	c.(301-303)ctfs	p.A101fs	ABCC10_ENST00000372530.4_Frame_Shift_Del_p.A144fs|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	144						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTTGCTGCCAGCTCCAGCCCT	0.652													20	67	---	---	---	---					
DST	667	broad.mit.edu	37	6	56483703	56483704	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:56483703_56483704insG	ENST00000370765.6	-	23	5235_5236	c.5128_5129insC	c.(5128-5130)agafs	p.R1710fs	DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1073					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTTAACTCTTGCACCTGAGCT	0.416													43	169	---	---	---	---					
DLL1	28514	broad.mit.edu	37	6	170592567	170592569	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr6:170592567_170592569delCTT	ENST00000366756.3	-	9	2131_2133	c.1798_1800delAAG	c.(1798-1800)del	p.K600del		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	600					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGAGATGTCCTTCTCACGCTGG	0.631													17	104	---	---	---	---					
RAPGEF5	9771	broad.mit.edu	37	7	22259497	22259499	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr7:22259497_22259499delCTC	ENST00000344041.6	-	9	835_837	c.523_525delGAG	c.(523-525)del	p.E175del	RAPGEF5_ENST00000475788.1_5'UTR|RAPGEF5_ENST00000405243.1_In_Frame_Del_p.E328del	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GTTCAGACTTCTCCTGTTCTTTT	0.419													9	58	---	---	---	---					
BMP1	649	broad.mit.edu	37	8	22058705	22058706	+	Frame_Shift_Ins	INS	-	-	C	rs143154292		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr8:22058705_22058706insC	ENST00000306349.8	+	16	2336_2337	c.2182_2183insC	c.(2182-2184)cccfs	p.P728fs	BMP1_ENST00000306385.5_Intron|BMP1_ENST00000354870.5_Intron	NM_001199.3	NP_001190.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	0	EGF-like 2; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AAGAAACCGGACCCCCCAGTGA	0.614													43	210	---	---	---	---					
FAM74A3	728495	broad.mit.edu	37	9	40715911	40715944	+	RNA	DEL	GAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	GAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	-	rs62565542		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr9:40715911_40715944delGAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	ENST00000604146.1	+	0	250_283					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGCTGTCCCGGAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCAGAGAAGACGT	0.568													4	6	---	---	---	---					
C10orf120	399814	broad.mit.edu	37	10	124457552	124457553	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr10:124457552_124457553insT	ENST00000329446.4	-	3	735_736	c.704_705insA	c.(703-705)aacfs	p.N235fs		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	235										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTCTTTTTGTGTTTTTTCCCTC	0.371													10	39	---	---	---	---					
C11orf80	79703	broad.mit.edu	37	11	66568153	66568154	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:66568153_66568154delCA	ENST00000360962.4	+	7	766_767	c.759_760delCA	c.(757-762)tccafs	p.ST253fs	C11orf80_ENST00000540737.1_Frame_Shift_Del_p.ST87fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000532565.2_Frame_Shift_Del_p.ST34fs|C11orf80_ENST00000525449.2_Frame_Shift_Del_p.ST98fs|C11orf80_ENST00000527634.1_Frame_Shift_Del_p.ST34fs|C11orf80_ENST00000346672.4_Frame_Shift_Del_p.ST98fs	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	98										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GAATCCTCTCCACAGAGATCTT	0.356													5	8	---	---	---	---					
TECTA	7007	broad.mit.edu	37	11	120979983	120979983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr11:120979983delC	ENST00000392793.1	+	4	533	c.262delC	c.(262-264)ccfs	p.P88fs	TECTA_ENST00000264037.2_Frame_Shift_Del_p.P88fs			O75443	TECTA_HUMAN	tectorin alpha	88					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAATCCTTTCCCCTGACAGA	0.488													12	25	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48881435	48881435	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr13:48881435delG	ENST00000267163.4	+	2	295	c.157delG	c.(157-159)aafs	p.E54fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	54					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(3)|p.E53K(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGAAGAAACAGAAGAACCTGA	0.328		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			11	64	---	---	---	---					
CHD8	57680	broad.mit.edu	37	14	21859144	21859144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr14:21859144delC	ENST00000399982.2	-	36	7208	c.7144delG	c.(7144-7146)aafs	p.E2382fs	CHD8_ENST00000557364.1_Frame_Shift_Del_p.E2382fs|CHD8_ENST00000430710.3_Frame_Shift_Del_p.E2103fs	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2382					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			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)		TGTACTGGTTCCATTCCCAAA	0.368													2	4	---	---	---	---					
OR4N4	283694	broad.mit.edu	37	15	22382920	22382921	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr15:22382920_22382921insT	ENST00000328795.4	+	1	539_540	c.448_449insT	c.(448-450)tggfs	p.W150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTCTGTGGCTTGGGGGTTTT	0.535													27	137	---	---	---	---					
SALL1	6299	broad.mit.edu	37	16	51175655	51175656	+	In_Frame_Ins	INS	-	-	GCTGCT	rs113614842		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr16:51175655_51175656insGCTGCT	ENST00000440970.1	-	2	617_618	c.186_187insAGCAGC	c.(184-189)aggcgg>agAGCAGCgcgg	p.62_63RR>RAAR	SALL1_ENST00000251020.4_In_Frame_Ins_p.159_160RR>RAAR|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgccgccgctgctgctgc	0.629													7	32	---	---	---	---					
G6PC3	92579	broad.mit.edu	37	17	42153269	42153270	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr17:42153269_42153270insG	ENST00000269097.4	+	6	1130_1131	c.899_900insG	c.(898-900)cggfs	p.R300fs		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	300					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTGGACTGGCTGGGCCACCCCC	0.619													9	125	---	---	---	---					
AP003900.6	0	broad.mit.edu	37	21	11180762	11180762	+	RNA	DEL	T	T	-	rs146742149		TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr21:11180762delT	ENST00000603265.1	+	0	231																											aACTAACTTCTTTTTTTTTTT	0.348													4	7	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-CQ-5327-01A-01D-1683-08	TCGA-CQ-5327-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da19d7bc-9748-4cd4-bd54-4792894838f0	1f1bed30-9b6d-4a36-9a45-5ee31005bd34	g.chr22:42262949_42262951delGCA	ENST00000361204.4	+	2	369_371	c.203_205delGCA	c.(202-207)ggc>g	p.GS68del		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	68	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567													7	79	---	---	---	---					
