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
CLEC4G	339390	broad.mit.edu	37	19	7794297	7794297	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:7794297G>A	ENST00000328853.5	-	9	905	c.837C>T	c.(835-837)gaC>gaT	p.D279D		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	279	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCTTCTCGCTGTCACACGGTG	0.627000													5	26					0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152034434	152034434	+	Silent	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:152034434C>T	ENST00000370274.3	+	6	809	c.615C>T	c.(613-615)ggC>ggT	p.G205G	NSDHL_ENST00000440023.1_Silent_p.G205G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	205			G -> S (in CHILD).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GCATTTTCGGCCCAAGGGACC	0.582000													31	60					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118503398	118503398	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:118503398G>T	ENST00000311085.8	+	23	5317	c.5237G>T	c.(5236-5238)cGt>cTt	p.R1746L	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1746L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1746										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTATTTTACGTAAAAAAGTT	0.348000													22	33					3.8784e-16	3.9996e-16	1	1	0
USP47	55031	broad.mit.edu	37	11	11959846	11959846	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:11959846C>T	ENST00000339865.5	+	17	2679	c.1916C>T	c.(1915-1917)tCt>tTt	p.S639F	USP47_ENST00000399455.2_Missense_Mutation_p.S727F|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.S707F	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	727					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)		AAGGCAGAATCTGTAGCTGCT	0.333000													19	36					0	0	1	0	0
RHPN1	114822	broad.mit.edu	37	8	144462859	144462859	+	Silent	SNP	G	G	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr8:144462859G>C	ENST00000289013.6	+	11	1418	c.1317G>C	c.(1315-1317)gtG>gtC	p.V439V		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	464	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TTCGGGCTGTGATCTCCCAGA	0.677000													3	6					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938788	76938788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:76938788G>A	ENST00000373344.5	-	9	2174	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R616*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	654					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGGGATCTTCGAAGATCAGAT	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						87	156					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280790	238280790	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr2:238280790G>A	ENST00000295550.4	-	9	4322	c.3870C>T	c.(3868-3870)tcC>tcT	p.S1290S	COL6A3_ENST00000353578.4_Silent_p.S1084S|COL6A3_ENST00000472056.1_Silent_p.S683S|COL6A3_ENST00000392004.3_Silent_p.S1084S|COL6A3_ENST00000409809.1_Silent_p.S1084S|COL6A3_ENST00000347401.3_Silent_p.S1089S|COL6A3_ENST00000346358.4_Silent_p.S1090S|COL6A3_ENST00000392003.2_Silent_p.S883S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1290	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATCCTTGCTGGAATGGGCGT	0.607000													12	30					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53190447	53190447	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr16:53190447C>G	ENST00000566029.1	+	2	655	c.446C>G	c.(445-447)tCt>tGt	p.S149C	CHD9_ENST00000564845.1_Missense_Mutation_p.S149C|CHD9_ENST00000447540.1_Missense_Mutation_p.S149C|CHD9_ENST00000398510.3_Missense_Mutation_p.S149C			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	149					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CATTCACACTCTATGCATCAA	0.418000													20	78					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153924030	153924030	+	Silent	SNP	G	G	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:153924030G>C	ENST00000368633.1	-	11	1237	c.1110C>G	c.(1108-1110)ccC>ccG	p.P370P	CRTC2_ENST00000368630.3_Silent_p.P50P	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	370	Ser-rich.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGCAGAGAGGGGTGGCTGT	0.652000													12	45					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10079133	10079133	+	Silent	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:10079133C>T	ENST00000264828.3	-	59	4327	c.4242G>A	c.(4240-4242)ccG>ccA	p.P1414P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1414	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGCTTCTCCCGGGGGGCCAA	0.592000													19	90					0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227307	35227307	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:35227307G>A	ENST00000339480.1	+	2	822	c.452G>A	c.(451-453)cGc>cAc	p.R151H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	151					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ATCTTCCACCGCCTCTACAAG	0.597000													24	34					0	0	1	0	0
UBE2Z	65264	broad.mit.edu	37	17	47000214	47000214	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:47000214T>C	ENST00000360943.5	+	6	944	c.809T>C	c.(808-810)gTg>gCg	p.V270A		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	270					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity										TCCAGAGGGGTGATGGAGAAG	0.473000													10	32					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31387129	31387129	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr20:31387129C>T	ENST00000328111.2	+	16	2075	c.1754C>T	c.(1753-1755)gCg>gTg	p.A585V	DNMT3B_ENST00000353855.2_Missense_Mutation_p.A565V|DNMT3B_ENST00000344505.4_Missense_Mutation_p.A565V|DNMT3B_ENST00000456297.2_Missense_Mutation_p.A489V|DNMT3B_ENST00000443239.3_Missense_Mutation_p.A523V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.A577V|DNMT3B_ENST00000348286.2_Missense_Mutation_p.A565V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	585			A -> V (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGGCATCGCGACAGGTGAG	0.577000													8	8					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	13980254	13980254	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:13980254T>C	ENST00000261643.3	+	3	457	c.380T>C	c.(379-381)aTt>aCt	p.I127T	COX10_ENST00000429152.2_Missense_Mutation_p.I127T|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_Intron	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	127					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GACTCAGTAATTGAAGACTCA	0.423000													15	64					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41308307	41308307	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr15:41308307G>A	ENST00000361937.3	-	27	3805	c.3381C>T	c.(3379-3381)acC>acT	p.T1127T	INO80_ENST00000401393.3_Silent_p.T1127T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1127	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTATCATCCTGGTCATCTGGG	0.473000													21	36					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267980	1267980	+	Silent	SNP	C	C	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:1267980C>A	ENST00000447027.1	+	31	9937	c.9879C>A	c.(9877-9879)acC>acA	p.T3293T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3290T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3290	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGGGCCACCGGCTCTGTGG	0.637000													4	83					0.150653	0.150653	1	1	0
PTPN11	5781	broad.mit.edu	37	12	112924324	112924324	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr12:112924324C>T	ENST00000351677.2	+	11	1468	c.1270C>T	c.(1270-1272)Ccg>Tcg	p.P424S	PTPN11_ENST00000392597.1_Missense_Mutation_p.P424S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	428	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TCGGACCTGGCCGGACCACGG	0.562000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				3	36					0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100816720	100816720	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr7:100816720C>T	ENST00000300303.2	-	3	632	c.394G>A	c.(394-396)Ggg>Agg	p.G132R	NAT16_ENST00000455377.1_Missense_Mutation_p.G132R	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	132	N-acetyltransferase.						N-acetyltransferase activity										ACGCCCTTCCCGCGCTCCCAG	0.711000													10	18					0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:162769603G>A	ENST00000367917.3	+	5	586	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCATCTCGCAGTGCAAGGAAA	0.458000													3	42					0	0	1	0	0
SPPL2A	84888	broad.mit.edu	37	15	51028304	51028304	+	Missense_Mutation	SNP	T	T	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr15:51028304T>A	ENST00000261854.5	-	8	1200	c.926A>T	c.(925-927)gAa>gTa	p.E309V		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	309						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ATACCTGTCTTCATTTCGAAA	0.353000													15	60					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14492346	14492346	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:14492346G>A	ENST00000242786.5	+	1	91	c.11G>A	c.(10-12)cGc>cAc	p.R4H	CD97_ENST00000357355.3_Missense_Mutation_p.R4H|CD97_ENST00000358600.3_Missense_Mutation_p.R4H|CD97_ENST00000587728.1_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	4					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ATGGGAGGCCGCGTCTTTCTC	0.672000													3	34					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	57					0	0	1	0	0
TSPAN7	7102	broad.mit.edu	37	X	38546915	38546915	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:38546915G>A	ENST00000378482.2	+	7	921	c.744G>A	c.(742-744)atG>atA	p.M248I	TSPAN7_ENST00000286824.6_Missense_Mutation_p.M265I|TM4SF2_ENST00000465127.1_Missense_Mutation_p.M278I|TSPAN7_ENST00000422612.2_Missense_Mutation_p.M274I|TSPAN7_ENST00000545599.1_Missense_Mutation_p.M222I	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	248					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGTATGAGATGGTGTAAGGAG	0.498000													3	28					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110895896	110895896	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr4:110895896C>T	ENST00000265171.5	+	12	2207	c.1762C>T	c.(1762-1764)Cgt>Tgt	p.R588C	EGF_ENST00000509793.1_Missense_Mutation_p.R546C|EGF_ENST00000503392.1_Missense_Mutation_p.R588C	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	588					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.R588C(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAATGGGAAACGTTCCAAAAT	0.358000													4	60					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176824066	176824066	+	Silent	SNP	C	C	T	rs146962295		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:176824066C>T	ENST00000324417.5	+	12	1498	c.1407C>T	c.(1405-1407)agC>agT	p.S469S	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	469					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGTCCAGCGCTTTCCAGG	0.627000													4	17					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68956773	68956773	+	Silent	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr8:68956773T>C	ENST00000288368.4	+	8	1168	c.891T>C	c.(889-891)cgT>cgC	p.R297R	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	297	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACCTTTTTCGTGGCCGGATCA	0.393000													14	104					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								38	48					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35706484	35706484	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:35706484T>C	ENST00000314888.9	-	39	5506	c.5153A>G	c.(5152-5154)aAt>aGt	p.N1718S	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.N1702S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1718	Interaction with SYNM.			N -> H (in Ref. 1; AAD13152 and 2; AAF23322).	axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGGCAGCATTGGCCAGCGG	0.592000													7	26					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49961552	49961552	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:49961552T>C	ENST00000376056.2	-	4	389	c.239A>G	c.(238-240)gAc>gGc	p.D80G	AKAP4_ENST00000376058.2_Missense_Mutation_p.D80G|AKAP4_ENST00000358526.2_Missense_Mutation_p.D89G|AKAP4_ENST00000376064.3_Missense_Mutation_p.D80G|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	89					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTAGACTGGTCTTTCTTCTC	0.438000													13	63					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11068038	11068038	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:11068038G>A	ENST00000287766.4	+	10	1492	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	SLC6A1_ENST00000536032.1_Silent_p.A179A	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	357					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CTGATGTGGCGGCCTCAGGTC	0.577000													23	23					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666729	19666729	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr21:19666729T>C	ENST00000284885.3	-	21	2377	c.2344A>G	c.(2344-2346)Acc>Gcc	p.T782A		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	782					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATCTTTGGGGTGATGTCTTGA	0.458000													28	106					0	0	1	0	0
WDR74	54663	broad.mit.edu	37	11	62601766	62601766	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:62601766C>T	ENST00000525239.1	-	9	1294	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	WDR74_ENST00000311713.7_Missense_Mutation_p.E253K|WDR74_ENST00000525752.1_Missense_Mutation_p.E196K|WDR74_ENST00000529106.1_Missense_Mutation_p.E253K|WDR74_ENST00000278856.4_Missense_Mutation_p.E253K			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	253						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						AGGTCAATTTCTGCCAGCTGC	0.567000													24	131					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96055256	96055256	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:96055256G>A	ENST00000297954.4	+	23	5620	c.5620G>A	c.(5620-5622)Gtg>Atg	p.V1874M	WNK2_ENST00000395477.2_Missense_Mutation_p.V1837M|WNK2_ENST00000427277.2_Missense_Mutation_p.V1449M|WNK2_ENST00000356055.3_Missense_Mutation_p.V201M|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.V1486M			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1874					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGCGACTTCGTGAAGAAGGC	0.706000													3	22					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96859724	96859724	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:96859724G>A	ENST00000375360.3	+	7	1054	c.714G>A	c.(712-714)agG>agA	p.R238R	PTPDC1_ENST00000288976.3_Silent_p.R290R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	238							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TCTGTGTAAGGGAATTTACTC	0.443000													30	105					0	0	1	0	0
PCDHGA11	0	broad.mit.edu	37	5	140802769	140802769	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:140802769G>A	ENST00000398587.2	+	1	2008	c.1975G>A	c.(1975-1977)Gtc>Atc	p.V659I	PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.V659I(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)			CTCGGCCACCGTCACGCTCAC	0.672000													4	107					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77844139	77844139	+	Missense_Mutation	SNP	T	T	G			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr13:77844139T>G	ENST00000407578.2	-	7	1514	c.1248A>C	c.(1246-1248)ttA>ttC	p.L416F	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L378F|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L378F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGCATACCCTAACCAAGACT	0.299000													9	70					0	0	1	0	0
H3F3B	3021	broad.mit.edu	37	17	73774698	73774698	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:73774698C>T	ENST00000254810.4	-	4	521	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	H3F3B_ENST00000587560.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000586607.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000589599.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000592643.1_Missense_Mutation_p.G106R|H3F3B_ENST00000593254.1_5'UTR	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	130					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCCGTATCCGGCGAGCCAA	0.443000													4	103					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			29	9					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4945354	4945354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr16:4945354G>A	ENST00000345988.2	-	11	1239	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	PPL_ENST00000590782.2_Nonsense_Mutation_p.R382*	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	384					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCTGGCCTCGCTTCTGCAGC	0.647000													9	41					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161143583	161143583	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:161143583G>A	ENST00000308192.9	+	10	1303	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	414	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAGACCCCAGAAAACTACCC	0.473000													5	137					0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635639	141635639	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr7:141635639G>A	ENST00000546910.1	-	5	516	c.320C>T	c.(319-321)gCa>gTa	p.A107V	CLEC5A_ENST00000551012.2_Missense_Mutation_p.A84V|CLEC5A_ENST00000438351.1_Missense_Mutation_p.A84V|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000470595.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	107	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GTTGACAATTGCCAATGTGGA	0.443000													13	67					0	0	1	0	0
PORCN	64840	broad.mit.edu	37	X	48369767	48369767	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:48369767G>T	ENST00000367574.4	+	3	513	c.8G>T	c.(7-9)tGg>tTg	p.W3L	PORCN_ENST00000537758.1_Missense_Mutation_p.W74L|PORCN_ENST00000355092.3_Missense_Mutation_p.W74L|PORCN_ENST00000361988.3_Missense_Mutation_p.W74L|PORCN_ENST00000355961.4_Missense_Mutation_p.W74L|PORCN_ENST00000326194.6_Missense_Mutation_p.W74L|PORCN_ENST00000359882.4_Missense_Mutation_p.W74L			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	74					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACATGGTTTGGGTCGTGCTG	0.567000											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	122					4.87955e-14	4.95462e-14	1	1	0
NWD1	284434	broad.mit.edu	37	19	16905360	16905360	+	Silent	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:16905360C>T	ENST00000524140.2	+	15	3718	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	NWD1_ENST00000552788.1_Silent_p.A1100A|NWD1_ENST00000549814.1_Silent_p.A1100A|NWD1_ENST00000523826.1_Silent_p.A894A|NWD1_ENST00000379808.3_Silent_p.A1100A|NWD1_ENST00000339803.6_Silent_p.A965A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1100							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCTCCTCGCCGCAGGTAGCG	0.547000													6	22					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109867299	109867299	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:109867299G>A	ENST00000424296.2	-	26	3072	c.2996C>T	c.(2995-2997)cCc>cTc	p.P999L	AK9_ENST00000355283.1_Missense_Mutation_p.P78L|AK9_ENST00000341338.6_Missense_Mutation_p.P78L	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		AGAGCCCTGGGGGCCGACAAG	0.448000													22	51					0	0	1	0	0
CST4	1472	broad.mit.edu	37	20	23667836	23667836	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr20:23667836G>A	ENST00000217423.3	-	2	301	c.231C>T	c.(229-231)acC>acT	p.T77T		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	77			T -> N (in a breast cancer sample; somatic mutation).			extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CCCCCCCAAAGGTCTGCACAC	0.562000													43	145					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930889	184930889	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr4:184930889G>A	ENST00000308497.4	+	3	2333	c.898G>A	c.(898-900)Gag>Aag	p.E300K	STOX2_ENST00000438269.1_Missense_Mutation_p.E300K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	300					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CCTGCGAGACGAGGACACGCC	0.512000													4	25					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904070	144904070	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:144904070A>G	ENST00000370490.1	+	1	4382	c.127A>G	c.(127-129)Aat>Gat	p.N43D	SLITRK2_ENST00000413937.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000434188.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000428560.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N43D			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	43						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAACGTACTGAATATCAACTG	0.453000													29	24					0	0	1	0	0
PARP3	10039	broad.mit.edu	37	3	51978147	51978147	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:51978147G>A	ENST00000417220.2	+	4	714	c.226G>A	c.(226-228)Gag>Aag	p.E76K	PARP3_ENST00000398755.3_Missense_Mutation_p.E83K|PARP3_ENST00000431474.1_Missense_Mutation_p.E76K			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	76					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACCAACATCGAGAACAACAA	0.602000													36	119					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87031502	87031502	+	Silent	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:87031502C>T	ENST00000370563.3	+	6	795	c.753C>T	c.(751-753)aaC>aaT	p.N251N	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	251						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.N251N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATTTTGTAACGAAAAAACCC	0.269000													8	47					0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61110297	61110297	+	Silent	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:61110297C>T	ENST00000394900.3	+	10	1075	c.846C>T	c.(844-846)gaC>gaT	p.D282D		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	282	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TCATAGCCGACGCTACCGTCC	0.587000													13	39					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175042013	175042013	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:175042013A>G	ENST00000454872.1	+	5	1117	c.989A>G	c.(988-990)gAt>gGt	p.D330G	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	330					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTGTATATCGATCCTTGTGAT	0.418000													78	69					0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28599885	28599885	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:28599885G>A	ENST00000253063.3	+	6	1088	c.767G>A	c.(766-768)cGc>cAc	p.R256H		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	256					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTCTGCCCGCGACGTGGAG	0.652000													4	14					0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754484	31754484	+	RNA	SNP	C	C	G	rs121434253		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr2:31754484C>G	ENST00000405650.1	-	0	756				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	ATTCAATGATCTCACCGAGGA	0.463000													5	29					0	0	1	0	0
EHF	26298	broad.mit.edu	37	11	34680178	34680178	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:34680178G>A	ENST00000257831.3	+	8	827	c.706G>A	c.(706-708)Gtc>Atc	p.V236I	EHF_ENST00000450654.2_Missense_Mutation_p.V213I|EHF_ENST00000531794.1_Missense_Mutation_p.V258I|EHF_ENST00000530286.1_Missense_Mutation_p.V236I|EHF_ENST00000533754.1_Missense_Mutation_p.V236I	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	236					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			ATCTGAGGGCGTCTTCAGGTT	0.488000													17	80					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760	by1000genomes	TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:145293269G>A	ENST00000369338.1	+	1	155		c.e1+1		RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10											NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTCACAACAGTAAGTTAAGA	0.423000													6	100					0	0	1	0	0
LINC00518	0	broad.mit.edu	37	6	10430699	10430701	+	RNA	DEL	TTT	TTT	-	rs79230388		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:10430699_10430701delTTT	ENST00000496285.1	-	0	489					NR_027793.1																						CTCTGACTAGttttttttttttt	0.448													2	4	---	---	---	---					
PACSIN1	0	broad.mit.edu	37	6	34495256	34495256	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:34495256delA	ENST00000538621.1	+	3	456	c.211delA	c.(211-213)tcfs	p.I71fs	PACSIN1_ENST00000374043.2_Frame_Shift_Del_p.I29fs|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000244458.2_Frame_Shift_Del_p.I71fs	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	71	FCH.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCGCCAGCTCATCGAGAAAGG	0.652											OREG0017366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
UCK1	83549	broad.mit.edu	37	9	134404363	134404363	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:134404363delC	ENST00000372215.4	-	5	664	c.571delG	c.(571-573)tgfs	p.V191fs	UCK1_ENST00000372211.3_Frame_Shift_Del_p.V196fs|UCK1_ENST00000372208.3_Intron|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Frame_Shift_Del_p.V182fs	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	191					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GCCGGCTTCACGAAGGTGGTG	0.617													12	30	---	---	---	---