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
ARID1A	8289	broad.mit.edu	37	1	27100117	27100117	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:27100117C>T	ENST00000324856.7	+	16	4284	c.3913C>T	c.(3913-3915)Cca>Tca	p.P1305S	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1305S|ARID1A_ENST00000374152.2_Missense_Mutation_p.P922S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1305					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CACTGGGGCCCCACAGCCGAA	0.577			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								11	61	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70482159	70482159	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:70482159T>C	ENST00000310961.5	+	15	1581	c.1163T>C	c.(1162-1164)tTa>tCa	p.L388S	LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.L383S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	383						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTGAAGAATTTACCATTCTCA	0.299													8	98	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152192453	152192453	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:152192453C>G	ENST00000368801.2	-	3	1727	c.1652G>C	c.(1651-1653)gGt>gCt	p.G551A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	551					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCCTGGAACCAGACTCATG	0.592													6	216	---	---	---	---
TMCC2	9911	broad.mit.edu	37	1	205238117	205238117	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:205238117G>A	ENST00000358024.3	+	3	1176	c.787G>A	c.(787-789)Ggc>Agc	p.G263S	TMCC2_ENST00000329800.7_Missense_Mutation_p.G23S|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.G185S|TMCC2_ENST00000330675.7_Missense_Mutation_p.G38S	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	263						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTCCCCGCCGGCCATGGTGA	0.662													9	74	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179476287	179476287	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr2:179476287T>G	ENST00000589042.1	-	269	50893	c.50669A>C	c.(50668-50670)gAa>gCa	p.E16890A	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8017A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15249A|TTN_ENST00000342992.6_Missense_Mutation_p.E14322A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7950A|TTN_ENST00000460472.2_Missense_Mutation_p.E7825A|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15249	Fibronectin type-III 22.						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)			TGGACACATTTCAACATGGTA	0.423													53	78	---	---	---	---
EIF4E	1977	broad.mit.edu	37	4	99823091	99823091	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr4:99823091T>G	ENST00000450253.2	-	2	1585	c.61A>C	c.(61-63)Aaa>Caa	p.K21Q	EIF4E_ENST00000280892.6_Missense_Mutation_p.K41Q|EIF4E_ENST00000504432.1_Missense_Mutation_p.K49Q|EIF4E_ENST00000505992.1_Missense_Mutation_p.K21Q|EIF4E_ENST00000504472.1_5'UTR	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	21					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		GATTCCGTTTTCTCCTCTTCT	0.388													55	90	---	---	---	---
HSPB3	8988	broad.mit.edu	37	5	53751722	53751722	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr5:53751722T>C	ENST00000302005.1	+	1	278	c.103T>C	c.(103-105)Tat>Cat	p.Y35H		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	35					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCATGCTTTATATGCACTGCC	0.542													29	65	---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33943522	33943522	+	Silent	SNP	C	C	A			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr9:33943522C>A	ENST00000379238.1	-	15	1728	c.1611G>T	c.(1609-1611)ggG>ggT	p.G537G	UBAP2_ENST00000539807.1_Silent_p.G292G|UBAP2_ENST00000379225.1_Silent_p.G170G|UBAP2_ENST00000418786.2_Silent_p.G484G|UBAP2_ENST00000360802.1_Silent_p.G537G|UBAP2_ENST00000449054.1_Silent_p.G537G|UBAP2_ENST00000379239.4_Silent_p.G270G			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	537										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATTCCAGAGCCCCAAACTGCA	0.453													29	57	---	---	---	---
DNAJC25	548645	broad.mit.edu	37	9	114412196	114412196	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr9:114412196A>G	ENST00000313525.3	+	3	1009	c.953A>G	c.(952-954)aAt>aGt	p.N318S	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	318					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						ATCAAGGAGAATTATGAGGTG	0.373													14	13	---	---	---	---
HOGA1	112817	broad.mit.edu	37	10	99358577	99358577	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr10:99358577G>T	ENST00000370646.4	+	2	618	c.257G>T	c.(256-258)aGc>aTc	p.S86I	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						TTCCTGACCAGCAGTGAGCGC	0.597													4	97	---	---	---	---
PGR	5241	broad.mit.edu	37	11	100998642	100998642	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr11:100998642A>G	ENST00000325455.5	-	1	2613	c.1160T>C	c.(1159-1161)aTa>aCa	p.I387T	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.I387T	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	387	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTCCTCCTTTATCTTTAGAGC	0.677													14	14	---	---	---	---
CDKN1B	1027	broad.mit.edu	37	12	12871204	12871204	+	Nonsense_Mutation	SNP	T	T	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr12:12871204T>G	ENST00000228872.4	+	1	1147	c.431T>G	c.(430-432)tTa>tGa	p.L144*	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.L144*	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	144					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CAGACGGGGTTAGCGGAGCAA	0.597													4	16	---	---	---	---
UTP14C	9724	broad.mit.edu	37	13	52603570	52603570	+	Silent	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr13:52603570T>C	ENST00000521776.2	+	2	1363	c.630T>C	c.(628-630)tcT>tcC	p.S210S	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	210					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		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;2.3e-08)		AAAAGGCCTCTCTCCAAGCCA	0.527													8	80	---	---	---	---
UTP14C	9724	broad.mit.edu	37	13	52603571	52603571	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr13:52603571C>T	ENST00000521776.2	+	2	1364	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	211					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		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;2.3e-08)		AAAGGCCTCTCTCCAAGCCAT	0.522													8	78	---	---	---	---
UACA	55075	broad.mit.edu	37	15	70960750	70960750	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr15:70960750T>C	ENST00000322954.6	-	16	2458	c.2273A>G	c.(2272-2274)gAt>gGt	p.D758G	UACA_ENST00000539319.1_Missense_Mutation_p.D649G|UACA_ENST00000379983.2_Missense_Mutation_p.D745G|UACA_ENST00000560441.1_Missense_Mutation_p.D743G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	758						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AATAATTGCATCATGTGACTT	0.303													5	51	---	---	---	---
USP10	9100	broad.mit.edu	37	16	84793526	84793526	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr16:84793526T>C	ENST00000219473.7	+	7	1537	c.1424T>C	c.(1423-1425)aTg>aCg	p.M475T	USP10_ENST00000570191.1_Missense_Mutation_p.M479T	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	475					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TTCACTAATATGCCAGTACCT	0.328													26	17	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7836490	7836490	+	Silent	SNP	G	G	T			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:7836490G>T	ENST00000380262.3	+	1	1018	c.93G>T	c.(91-93)tcG>tcT	p.S31S	CNTROB_ENST00000565740.1_Silent_p.S31S|CNTROB_ENST00000563694.1_Silent_p.S31S|CNTROB_ENST00000380255.3_Silent_p.S31S	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	31					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				ACCAAGTGTCGTCTGAAGTGA	0.612													50	87	---	---	---	---
TVP23C	201158	broad.mit.edu	37	17	15406355	15406355	+	Silent	SNP	C	C	A	rs150726968		TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:15406355C>A	ENST00000225576.3	-	6	749	c.654G>T	c.(652-654)gcG>gcT	p.A218A	TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2			trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TAAGGCGGGGCGCAGGTTTCC	0.597													15	26	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29576014	29576014	+	Silent	SNP	A	A	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:29576014A>G	ENST00000358273.4	+	30	4370	c.3987A>G	c.(3985-3987)tcA>tcG	p.S1329S	NF1_ENST00000356175.3_Silent_p.S1329S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1329	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGAACCATCAGAGAGCCTTG	0.368			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	100	---	---	---	---
IGF2BP1	10642	broad.mit.edu	37	17	47121347	47121347	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:47121347A>G	ENST00000290341.3	+	11	1553	c.1219A>G	c.(1219-1221)Atg>Gtg	p.M407V	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.M268V	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	407	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CGAGCAGGAGATGGTGCAGGT	0.617													43	48	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	347050	347050	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr18:347050T>C	ENST00000400256.3	-	5	779	c.572A>G	c.(571-573)aAt>aGt	p.N191S		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	191					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTTCTGCAGATTGCCCTGGAG	0.473													13	119	---	---	---	---
PSMA8	143471	broad.mit.edu	37	18	23713978	23713978	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr18:23713978C>A	ENST00000308268.6	+	1	138	c.49C>A	c.(49-51)Cac>Aac	p.H17N	PSMA8_ENST00000343848.6_Missense_Mutation_p.H17N|PSMA8_ENST00000415576.2_Missense_Mutation_p.H17N	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	17					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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CCCAGACGGACACCTTTTTCA	0.562													4	59	---	---	---	---
PSG1	5669	broad.mit.edu	37	19	43372287	43372287	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr19:43372287C>A	ENST00000244296.2	-	5	1346	c.1209G>T	c.(1207-1209)aaG>aaT	p.K403N	PSG1_ENST00000403380.3_Missense_Mutation_p.K310N|PSG1_ENST00000312439.6_Missense_Mutation_p.K403N|PSG1_ENST00000595124.1_Missense_Mutation_p.K310N|PSG1_ENST00000595356.1_Missense_Mutation_p.K403N|PSG1_ENST00000436291.2_Missense_Mutation_p.K403N	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGGAGCTTTCCTTGCCAGTGG	0.458													95	177	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55451127	55451127	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr19:55451127C>T	ENST00000446217.1	-	6	1546	c.1144G>A	c.(1144-1146)Gcg>Acg	p.A382T	NLRP7_ENST00000590030.1_Missense_Mutation_p.A354T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A354T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A354T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A354T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A354T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A354T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	354	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AACAGGGCCGCGTTGCTCCTC	0.627													17	28	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29632660	29632660	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr20:29632660G>A	ENST00000278882.3	+	8	855	c.475G>A	c.(475-477)Gag>Aag	p.E159K	FRG1B_ENST00000358464.4_Missense_Mutation_p.E159K																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAGTAAAGAAGAGAGTAAAAT	0.318													6	623	---	---	---	---
APOBEC3F	200316	broad.mit.edu	37	22	39439011	39439011	+	Silent	SNP	T	T	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr22:39439011T>G	ENST00000308521.5	+	2	444	c.87T>G	c.(85-87)cgT>cgG	p.R29R	APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Silent_p.R29R	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	29					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TCCTTTCTCGTCGGAATACCG	0.488													4	54	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70349255	70349255	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chrX:70349255G>C	ENST00000333646.6	+	26	3866	c.3667G>C	c.(3667-3669)Gtt>Ctt	p.V1223L	MED12_ENST00000374102.1_Missense_Mutation_p.V1223L|MED12_ENST00000374080.3_Missense_Mutation_p.V1223L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1223					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGTGTTTGCTGTTCTCAAGGC	0.572			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	3	---	---	---	---
