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
MUC2	4583	broad.mit.edu	37	11	1102479	1102479	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr11:1102479C>T	ENST00000441003.2	+	45	7890	c.7863C>T	c.(7861-7863)ccC>ccT	p.P2621P		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4983						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGAGGCCCCCGGGGAGTGCT	0.602000													3	13					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													4	88					0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72833324	72833324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr9:72833324C>T	ENST00000377182.4	+	12	2340	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	575	MAM 4.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CAGGCCTCTGCGAGGAGTCTC	0.478000													16	58					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111948380	111948380	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:111948380C>G	ENST00000377617.3	-	12	2206	c.2045G>C	c.(2044-2046)aGa>aCa	p.R682T	ATXN2_ENST00000535949.1_Missense_Mutation_p.R393T|ATXN2_ENST00000389153.4_Missense_Mutation_p.R417T|ATXN2_ENST00000542287.2_Missense_Mutation_p.R417T|ATXN2_ENST00000550104.1_Missense_Mutation_p.R682T|ATXN2_ENST00000608853.1_Missense_Mutation_p.R522T	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	682	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AGGGGATAATCTTGGAACTAG	0.403000													48	168					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99042266	99042266	+	Silent	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:99042266A>G	ENST00000357310.1	+	2	706	c.129A>G	c.(127-129)gtA>gtG	p.V43V	APAF1_ENST00000549007.1_Silent_p.V43V|APAF1_ENST00000547045.1_Silent_p.V43V|APAF1_ENST00000550527.1_Silent_p.V43V|APAF1_ENST00000359972.2_Silent_p.V43V|APAF1_ENST00000551964.1_Silent_p.V43V|APAF1_ENST00000333991.1_Silent_p.V43V|APAF1_ENST00000339433.3_Silent_p.V43V|APAF1_ENST00000547743.1_Silent_p.V43V|APAF1_ENST00000552268.1_Silent_p.V43V	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	43	CARD.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AGGAAAAAGTAAGAAATGAGG	0.348000													4	110					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110765546	110765546	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:110765546C>T	ENST00000395494.2	+	7	1301	c.738C>T	c.(736-738)atC>atT	p.I246I	ATP2A2_ENST00000539276.2_Silent_p.I273I|ATP2A2_ENST00000308664.6_Silent_p.I273I			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	273					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CAGTCTGGATCATAAATATTG	0.458000													36	145					0	0	1	0	0
MAGT1	84061	broad.mit.edu	37	X	77150858	77150858	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:77150858G>A	ENST00000358075.6	-	1	232	c.146C>T	c.(145-147)gCg>gTg	p.A49V	MAGT1_ENST00000373336.3_Missense_Mutation_p.A17V	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	17					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GATGAGCAGCGCCACCACCAT	0.562000													19	50					0	0	1	0	0
RAB33B	83452	broad.mit.edu	37	4	140375394	140375394	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr4:140375394C>T	ENST00000305626.5	+	1	434	c.45C>T	c.(43-45)tcC>tcT	p.S15S	RAB33B_ENST00000507271.1_3'UTR	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	15					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GCTTTTCGTCCAGCGGGGCAG	0.602000													10	36					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380501	114380501	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:114380501G>A	ENST00000359785.5	-	13	1656	c.1521C>T	c.(1519-1521)caC>caT	p.H507H	PTPN22_ENST00000528414.1_Silent_p.H452H|PTPN22_ENST00000420377.2_Silent_p.H507H|PTPN22_ENST00000525799.1_Silent_p.H380H|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Silent_p.H263H	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	507					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACGTATTTGGTGTTTAGAGT	0.368000													18	58					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21447849	21447849	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr18:21447849C>T	ENST00000313654.9	+	37	4976	c.4735C>T	c.(4735-4737)Cgg>Tgg	p.R1579W	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1579W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1579	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGGCCAGACCGGCTGCATCA	0.453000													31	133					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525370	61525370	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr20:61525370C>G	ENST00000266070.4	-	12	3074	c.2749G>C	c.(2749-2751)Gaa>Caa	p.E917Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.E917Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.E917Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.E917Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	917					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAGCACTTTCTAGGCCTGGC	0.582000													36	91					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33287908	33287908	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr6:33287908C>T	ENST00000374542.5	-	5	1549	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	DAXX_ENST00000266000.6_Missense_Mutation_p.E449K|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Missense_Mutation_p.E374K	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	449	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						tcctcctcctcctcctcttcc	0.567000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								9	38					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101740695	101740695	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr7:101740695G>A	ENST00000360264.3	+	5	373	c.353G>A	c.(352-354)cGc>cAc	p.R118H	CUX1_ENST00000292535.7_Missense_Mutation_p.R107H|CUX1_ENST00000550008.2_Missense_Mutation_p.R107H|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R107H|CUX1_ENST00000556210.1_Missense_Mutation_p.R107H|CUX1_ENST00000393824.3_Missense_Mutation_p.R81H|CUX1_ENST00000437600.4_Missense_Mutation_p.R118H|CUX1_ENST00000549414.2_Missense_Mutation_p.R107H|CUX1_ENST00000292538.4_Missense_Mutation_p.R118H|CUX1_ENST00000547394.2_Missense_Mutation_p.R102H	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	107					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAAGTGCAGCGCCTGCACGAT	0.483000													4	106					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160605213	160605213	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:160605213G>A	ENST00000259050.4	+	5	1534	c.1412G>A	c.(1411-1413)aGa>aAa	p.R471K	MARCH7_ENST00000539065.1_Missense_Mutation_p.R415K|MARCH7_ENST00000409175.1_Missense_Mutation_p.R471K|MARCH7_ENST00000409591.1_Missense_Mutation_p.R433K	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase								ligase activity|zinc ion binding	p.R471K(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						CAAGGTGGAAGAAATACAGGA	0.483000													54	290					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058346	11058346	+	RNA	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr21:11058346A>G	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGGAGAGAAATCTCTTTATA	0.348000													4	84					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119929336	119929336	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:119929336C>T	ENST00000361035.4	+	6	975	c.692C>T	c.(691-693)cCc>cTc	p.P231L	HAO2_ENST00000325945.3_Missense_Mutation_p.P218L			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	218	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ACTCGATTGCCCATCATCCTG	0.448000													21	58					0	0	1	0	0
NIPA2	81614	broad.mit.edu	37	15	23006742	23006742	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr15:23006742T>C	ENST00000337451.3	-	8	1174	c.562A>G	c.(562-564)Atc>Gtc	p.I188V	NIPA2_ENST00000398013.3_Missense_Mutation_p.I188V|NIPA2_ENST00000359727.4_Missense_Mutation_p.I169V|NIPA2_ENST00000398014.2_Missense_Mutation_p.I188V|NIPA2_ENST00000539711.2_Missense_Mutation_p.I169V	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	188						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		AACGCGCCGATTACAGAGCAG	0.512000													20	90					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	420835	420835	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr11:420835G>C	ENST00000332826.6	-	18	1600	c.1516C>G	c.(1516-1518)Ctg>Gtg	p.L506V		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	506						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GAGGCCCGCAGAGAGCGGCAC	0.731000													7	19					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119077193	119077193	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:119077193G>A	ENST00000371410.3	-	1	542	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	126					negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TTCTGCCGCAGGCTCTCCTCC	0.572000													44	89					0	0	1	0	0
IGF1	3479	broad.mit.edu	37	12	102811727	102811727	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:102811727G>T	ENST00000307046.8	-	4	638	c.457C>A	c.(457-459)Cca>Aca	p.P153T	IGF1_ENST00000392904.1_Intron|IGF1_ENST00000337514.6_Intron|IGF1_ENST00000456098.1_Intron|IGF1_ENST00000424202.2_Intron	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	153					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						TGTGTCTTTGGCCAACCTTTC	0.458000													25	235					8.24728e-16	8.92858e-16	1	1	0
ZHX2	22882	broad.mit.edu	37	8	123964380	123964380	+	Missense_Mutation	SNP	C	C	A	rs111854627		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr8:123964380C>A	ENST00000314393.4	+	3	1465	c.630C>A	c.(628-630)aaC>aaA	p.N210K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	210	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCCCCGAGAACCACGTGGAAG	0.587000													49	152					1.51926e-22	1.65919e-22	1	1	0
ZNF567	163081	broad.mit.edu	37	19	37203292	37203292	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:37203292C>G	ENST00000536254.2	+	4	236	c.14C>G	c.(13-15)tCa>tGa	p.S5*	ZNF567_ENST00000392163.2_5'UTR|ZNF567_ENST00000360729.4_5'UTR|ZNF567_ENST00000588311.1_5'UTR|ZNF567_ENST00000585696.1_5'UTR			Q8N184	ZN567_HUMAN	zinc finger protein 567	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTCTAGGGATCAGTGTCTTTC	0.478000													8	19					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25665795	25665795	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr3:25665795T>C	ENST00000435706.2	-	20	2674	c.2473A>G	c.(2473-2475)Atg>Gtg	p.M825V	TOP2B_ENST00000264331.4_Missense_Mutation_p.M830V			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	830					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TACCTTAACATTGTGAAAATA	0.373000													5	108					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43852229	43852229	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr21:43852229G>C	ENST00000319294.6	+	9	1219	c.1188G>C	c.(1186-1188)aaG>aaC	p.K396N	UBASH3A_ENST00000398367.1_Missense_Mutation_p.K358N|UBASH3A_ENST00000291535.6_Missense_Mutation_p.K358N	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	396	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TTGCAAGGAAGAGCGTGCTGG	0.582000													10	18					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65942424	65942424	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr17:65942424G>T	ENST00000321892.4	+	23	8039	c.7978G>T	c.(7978-7980)Gaa>Taa	p.E2660*	BPTF_ENST00000335221.5_Intron|BPTF_ENST00000306378.6_Nonsense_Mutation_p.E2534*|BPTF_ENST00000424123.3_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2660					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAATCAAAGTGAAATCATTCA	0.388000													16	74					3.41278e-10	3.63155e-10	1	1	0
TOPBP1	11073	broad.mit.edu	37	3	133372192	133372192	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr3:133372192C>T	ENST00000260810.5	-	7	1050	c.919G>A	c.(919-921)Gat>Aat	p.D307N	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	307					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GACTCACTATCAATTGTGTTG	0.348000								Other conserved DNA damage response genes					8	31					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143427114	143427114	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr8:143427114G>A	ENST00000524325.1	-	3	403	c.228C>T	c.(226-228)gcC>gcT	p.A76A	TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Silent_p.A76A|TSNARE1_ENST00000307180.3_Silent_p.A76A			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	76					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCGCTTCCTGGCCCTTGGGA	0.652000													10	29					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45535937	45535937	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:45535937C>T	ENST00000221452.8	+	9	1287	c.1137C>T	c.(1135-1137)gtC>gtT	p.V379V	RELB_ENST00000540120.1_Silent_p.V379V|RELB_ENST00000505236.1_Silent_p.V376V	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	379	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CAGTCAACGTCTTCCTGCAGC	0.607000													5	19					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112414	18112414	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:18112414T>C	ENST00000403915.1	+	3	590	c.139T>C	c.(139-141)Tgc>Cgc	p.C47R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.C47R	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	47					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTGCTTACTTGCCATTCTGA	0.493000													5	119					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924447	45924447	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr11:45924447G>A	ENST00000395629.2	+	5	1429	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.D377N			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	377					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CCTGTCCTATGACTCTGTCAA	0.672000													6	13					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153580630	153580630	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:153580630C>A	ENST00000422373.1	-	40	6912	c.6664G>T	c.(6664-6666)Gtg>Ttg	p.V2222L	FLNA_ENST00000369850.3_Missense_Mutation_p.V2230L|FLNA_ENST00000344736.4_Missense_Mutation_p.V2190L|FLNA_ENST00000360319.4_Missense_Mutation_p.V2222L|FLNA_ENST00000369856.3_Missense_Mutation_p.V363L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2230					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGGGCCCCACGGTGAACTGG	0.652000													29	56					3.73988e-18	4.06651e-18	1	1	0
NDUFB10	4716	broad.mit.edu	37	16	2011195	2011195	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr16:2011195T>C	ENST00000543683.2	+	2	254	c.172T>C	c.(172-174)Tac>Cac	p.Y58H	NDUFB10_ENST00000569148.1_Missense_Mutation_p.Y58H|NDUFB10_ENST00000268668.6_Missense_Mutation_p.Y58H			O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	58					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	GTATTACTACTACCACCGGCA	0.493000													13	68					0	0	1	0	0
IGKV1D-12	28903	broad.mit.edu	37	2	90198975	90198975	+	RNA	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:90198975C>T	ENST00000390276.2	+	0	317																											CATCACTTGTCGGGCGAGTCA	0.498000													44	186					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323429	29323429	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr6:29323429G>A	ENST00000377154.1	-	4	843	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	OR5V1_ENST00000543825.1_Missense_Mutation_p.P182S			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCAAAGGGGGGATGTCACAG	0.468000													23	94					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395560	76395560	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr13:76395560G>A	ENST00000357063.3	+	15	3871	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	LMO7_ENST00000526202.1_Missense_Mutation_p.E436K|LMO7_ENST00000377534.3_Missense_Mutation_p.E871K|LMO7_ENST00000341547.4_Missense_Mutation_p.E537K|LMO7_ENST00000465261.2_Missense_Mutation_p.E586K|LMO7_ENST00000321797.8_Missense_Mutation_p.E586K			Q8WWI1	LMO7_HUMAN	LIM domain 7	871						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCCTGTGGAAGAACAAAGCCC	0.438000													28	90					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45535844	45535844	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:45535844C>T	ENST00000221452.8	+	9	1194	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	RELB_ENST00000540120.1_Silent_p.F348F|RELB_ENST00000505236.1_Silent_p.F345F	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	348	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GGGCTGACTTCTCCCAGGCCG	0.597000													7	14					0	0	1	0	0
CRYL1	51084	broad.mit.edu	37	13	21006313	21006313	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr13:21006313C>T	ENST00000382812.1	-	6	723	c.495G>A	c.(493-495)caG>caA	p.Q165Q	CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000298248.7_Silent_p.Q187Q			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	187					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CCACCTCCTTCTGGACTCGCA	0.627000													18	43					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844570	123844570	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr10:123844570C>T	ENST00000369005.1	+	4	2895	c.2555C>T	c.(2554-2556)cCt>cTt	p.P852L	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P852L|TACC2_ENST00000515273.1_Missense_Mutation_p.P852L|TACC2_ENST00000453444.2_Missense_Mutation_p.P852L|TACC2_ENST00000334433.3_Missense_Mutation_p.P852L|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	852						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCCAGCCACCTGAAAATGGG	0.517000													36	116					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056317	26056317	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr6:26056317C>G	ENST00000343677.2	-	1	382	c.340G>C	c.(340-342)Ggg>Cgg	p.G114R		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	114					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTGGCTTCCCCGGAGGCTGCC	0.577000													33	93					0	0	1	0	0
FBXW9	84261	broad.mit.edu	37	19	12800096	12800096	+	Silent	SNP	A	A	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:12800096A>T	ENST00000380339.3	-	10	1437	c.1401T>A	c.(1399-1401)gcT>gcA	p.A467A	FBXW9_ENST00000393261.3_Silent_p.A437A|FBXW9_ENST00000544494.1_Silent_p.A175A|FBXW9_ENST00000587955.1_Silent_p.A457A			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	467							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GGTTGCCCTCAGCACAGACCT	0.652000													8	33					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16337127	16337127	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr21:16337127C>T	ENST00000400202.1	-	3	4099	c.3387G>A	c.(3385-3387)atG>atA	p.M1129I	NRIP1_ENST00000318948.4_Missense_Mutation_p.M1129I|NRIP1_ENST00000400199.1_Missense_Mutation_p.M1129I			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1129	Repression domain 4.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CATTATTTCCCATATGGCTAT	0.408000													46	65					0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30018385	30018385	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr16:30018385C>T	ENST00000350119.4	-	7	871	c.681G>A	c.(679-681)gcG>gcA	p.A227A	DOC2A_ENST00000564944.1_Silent_p.A227A|DOC2A_ENST00000564979.1_Silent_p.A227A	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	227	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CCCTCAGCGCCGCTGACATGG	0.677000													15	36					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179414167	179414167	+	Silent	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:179414167C>G	ENST00000367618.3	+	16	2013	c.1626C>G	c.(1624-1626)ctC>ctG	p.L542L	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Silent_p.L542L	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	542										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACGATACTCTCAAGATTATTA	0.393000													23	81					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187078792	187078792	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr4:187078792C>T	ENST00000356371.5	+	8	1521	c.1521C>T	c.(1519-1521)caC>caT	p.H507H	FAM149A_ENST00000502970.1_Silent_p.H216H|FAM149A_ENST00000503432.1_Silent_p.H216H|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000514153.1_Silent_p.H216H|FAM149A_ENST00000389354.5_Silent_p.H216H|FAM149A_ENST00000227065.4_Silent_p.H216H			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	507										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CACACGCTCACGCCGATGGAG	0.562000													17	61					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84560117	84560117	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr15:84560117C>T	ENST00000286744.5	+	12	1472	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	ADAMTSL3_ENST00000567476.1_Silent_p.F416F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	416						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATGACCACTTCCAACCTCTTC	0.328000													16	74					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784414	32784414	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr9:32784414G>A	ENST00000342743.5	+	2	598	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	78						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTGTGGGTCCGCAAATTGCCC	0.597000													4	156					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405375	1405375	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr10:1405375C>T	ENST00000381312.1	-	3	1250	c.925G>A	c.(925-927)Gcc>Acc	p.A309T		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	309	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ACGCTCACGGCCATCACGAAG	0.721000													3	8					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117665320	117665320	+	Missense_Mutation	SNP	G	G	A	rs77074921		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:117665320G>A	ENST00000317775.6	-	23	4217	c.3532C>T	c.(3532-3534)Cgc>Tgc	p.R1178C	NOS1_ENST00000338101.4_Missense_Mutation_p.R1212C|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1178	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GAATAGTAGCGGGGCTGCAGC	0.612000													21	59					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301916	140301916	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr7:140301916C>T	ENST00000275884.6	-	2	699	c.282G>A	c.(280-282)gaG>gaA	p.E94E	DENND2A_ENST00000492720.1_Silent_p.E94E|DENND2A_ENST00000496613.1_Silent_p.E94E|DENND2A_ENST00000537639.1_Silent_p.E94E			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	94										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CATTCTTAGCCTCTGTGACCT	0.577000													72	156					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89624275	89624275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr10:89624275C>T	ENST00000371953.3	+	1	1406	c.49C>T	c.(49-51)Caa>Taa	p.Q17*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	17	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.Q17*(5)|p.Q17del(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.Y16fs*21(1)|p.N12fs*6(1)|p.R14_D22del(1)|p.Y16fs*1(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGGAGATATCAAGAGGATGG	0.478000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			26	86					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154557551	154557551	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr4:154557551C>G	ENST00000409663.3	+	35	4705	c.4653C>G	c.(4651-4653)atC>atG	p.I1551M	KIAA0922_ENST00000440693.1_Missense_Mutation_p.I1468M|KIAA0922_ENST00000409959.3_Missense_Mutation_p.I1552M	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1551						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GCTGCCCCATCAACCCCACCA	0.537000													25	85					0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72104736	72104736	+	RNA	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr15:72104736C>T	ENST00000398840.2	+	0	822							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						CCATACTCCTCTTCCTCCCCC	0.567000													35	98					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12763187	12763187	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:12763187T>A	ENST00000456935.2	-	15	1958	c.1918A>T	c.(1918-1920)Acc>Tcc	p.T640S	MAN2B1_ENST00000221363.4_Missense_Mutation_p.T639S	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	640					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGAAGAAGGTCTGGCGAACA	0.567000													12	33					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262847	140262847	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr5:140262847G>A	ENST00000289272.2	+	1	994	c.994G>A	c.(994-996)Ggt>Agt	p.G332S	PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G332S|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAATGGCGGGTCATTGTAC	0.413000													32	47					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918486	51918486	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:51918486C>T	ENST00000353836.5	-	7	1500	c.1279G>A	c.(1279-1281)Gct>Act	p.A427T	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.A279T|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.A344T|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.A369T|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.A379T|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.A369T|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.A337T|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.A427T|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.A427T	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	427	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGGTGCCGAGCGTGGCAGGTG	0.667000													31	105					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245829	59245829	+	Silent	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr11:59245829T>C	ENST00000530162.1	+	1	984	c.927T>C	c.(925-927)gaT>gaC	p.D309D		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D309E(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCCTTCTGATAGAAAATAGA	0.368000													13	34					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14808014	14808014	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr11:14808014C>T	ENST00000282096.4	+	3	1414	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L	PDE3B_ENST00000455098.2_Missense_Mutation_p.S354L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	354					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTTGATCTTTCAGTGCTAAAT	0.363000													14	60					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442094	103442094	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr14:103442094G>A	ENST00000361246.2	-	11	1722	c.1434C>T	c.(1432-1434)ctC>ctT	p.L478L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	478					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGAATTGCTGAGGGCCCGAG	0.507000													76	158					0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124936902	124936902	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr9:124936902C>T	ENST00000536616.1	+	4	473	c.435C>T	c.(433-435)aaC>aaT	p.N145N	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Silent_p.N145N			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	145								p.N145N(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TTCTAAGAAACGCAGGTAGGT	0.448000													19	67					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44112896	44112896	+	Missense_Mutation	SNP	G	G	A	rs146318307	byFrequency	TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr7:44112896G>A	ENST00000395831.3	-	9	1338	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M	POLM_ENST00000242248.5_Silent_p.N493N|POLM_ENST00000335195.6_Silent_p.N456N	NM_001284330.1	NP_001271259.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	0					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						AGGCTCAGGCGTTTCTCTGCT	0.562000								DNA polymerases (catalytic subunits)					4	57					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69408959	69408959	+	Silent	SNP	G	G	A	rs111544315	byFrequency	TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:69408959G>A	ENST00000303714.4	+	15	1453	c.1131G>A	c.(1129-1131)acG>acA	p.T377T		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	377					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.T377T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTGGCCAACGGTAGACGCCT	0.468000									Familial Infantile Hemangioma				56	94					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2115849	2115849	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr9:2115849C>T	ENST00000382203.1	+	25	3693	c.3484C>T	c.(3484-3486)Cgc>Tgc	p.R1162C	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1162C|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1162C|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1162C			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1162	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.R1158C(1)|p.R1162C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCGAGCTCACCGCATCGGGCA	0.582000													14	31					0	0	1	0	0
NOB1	28987	broad.mit.edu	37	16	69778785	69778785	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr16:69778785G>A	ENST00000268802.5	-	8	989	c.960C>T	c.(958-960)cgC>cgT	p.R320R		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	320						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGGAGGCCGCGGGGGTTCA	0.572000													8	13					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141776022	141776022	+	Silent	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr7:141776022A>G	ENST00000475668.2	+	46	5349	c.5295A>G	c.(5293-5295)gtA>gtG	p.V1765V	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1765	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAAGAAAGTATATCTTTTAT	0.418000													22	92					0	0	1	0	0
BATF3	55509	broad.mit.edu	37	1	212860210	212860210	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:212860210G>A	ENST00000243440.1	-	3	529	c.307C>T	c.(307-309)Ccg>Tcg	p.P103S	BATF3_ENST00000478275.1_5'UTR	NM_018664.2	NP_061134.1	Q9NR55	BATF3_HUMAN	basic leucine zipper transcription factor, ATF-like 3	103					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		AGCAGCAGCGGGCACATCTTC	0.622000													32	114					0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147106395	147106395	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:147106395G>A	ENST00000370467.3	+	5	717	c.643G>A	c.(643-645)Gat>Aat	p.D215N		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	215						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CGAACCGGCCGATGATTTACA	0.388000													46	86					0	0	1	0	0
EIF5	1983	broad.mit.edu	37	14	103802407	103802407	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr14:103802407T>C	ENST00000216554.3	+	4	783	c.107T>C	c.(106-108)aTa>aCa	p.I36T	EIF5_ENST00000392715.2_Missense_Mutation_p.I36T|EIF5_ENST00000558506.1_Missense_Mutation_p.I36T|EIF5_ENST00000560200.1_Intron	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	36					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AAGACAGTTATAGTCAACATG	0.398000													26	45					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44929589	44929589	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:44929589C>T	ENST00000377967.4	+	17	2730	c.2689C>T	c.(2689-2691)Ctg>Ttg	p.L897L	KDM6A_ENST00000543216.1_Silent_p.L818L|KDM6A_ENST00000382899.4_Silent_p.L904L|KDM6A_ENST00000536777.1_Silent_p.L852L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	897					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGCAGAAGTTCTGAAGGCATG	0.433000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								15	36					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917576	144917576	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:144917576G>A	ENST00000529945.1	-	8	2456	c.2017C>T	c.(2017-2019)Cgt>Tgt	p.R673C	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R647C|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R510C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R510C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R647C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R510C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R576C|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R510C|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R297C|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R673C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	510					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACAGCAAGACGAAGCTGGCGC	0.443000			T	PDGFRB	MPD								26	244					0	0	1	0	0
SRPX	8406	broad.mit.edu	37	X	38080591	38080591	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:38080591C>T	ENST00000343800.6	-	1	105	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	TM4SF2_ENST00000465127.1_Intron			P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	0					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						tgtccactttctccaataaga	0.527000											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	18					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139697487	139697487	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr8:139697487G>A	ENST00000303045.6	-	38	3377	c.2931C>T	c.(2929-2931)ctC>ctT	p.L977L	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.L977L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	977	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTGGCCCAGGGAGCCCAGGAG	0.587000										HNSCC(7;0.00092)			19	79					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611348	17611348	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr8:17611348G>A	ENST00000381869.3	-	2	2442	c.1969C>T	c.(1969-1971)Ccc>Tcc	p.P657S	MTUS1_ENST00000262102.6_Missense_Mutation_p.P657S|MTUS1_ENST00000381862.3_Missense_Mutation_p.P657S|MTUS1_ENST00000519263.1_Missense_Mutation_p.P657S	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	657						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCAATGTTGGGAACATAGGTC	0.403000													39	65					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36593977	36593977	+	Splice_Site	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:36593977G>A	ENST00000401500.2	+	28	3497		c.e28+1		WDR62_ENST00000270301.7_Splice_Site	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62						cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGGACCCACGTGAGTATTGG	0.642000													10	45					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44928929	44928929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:44928929C>T	ENST00000377967.4	+	17	2070	c.2029C>T	c.(2029-2031)Cag>Tag	p.Q677*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q598*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q684*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q632*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	677					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.Q677*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTCTGGTATTCAGAATCAGAA	0.537000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								20	27					0	0	1	0	0
TSPAN31	6302	broad.mit.edu	37	12	58140803	58140803	+	Silent	SNP	C	C	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:58140803C>A	ENST00000547992.1	+	3	327	c.195C>A	c.(193-195)atC>atA	p.I65I	TSPAN31_ENST00000547472.1_Silent_p.I66I|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000257910.3_Silent_p.I149I			Q12999	TSN31_HUMAN	tetraspanin 31	149					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ATCCTCAGATCTGCAAGAGCC	0.428000													29	101					6.38683e-12	6.85483e-12	1	1	0
ZNF687	57592	broad.mit.edu	37	1	151260368	151260368	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:151260368G>A	ENST00000368879.2	+	2	1699	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACCGGCTACCGCTGCCTGGAG	0.617000													15	57					0	0	1	0	0
NEK4	6787	broad.mit.edu	37	3	52802578	52802578	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr3:52802578C>T	ENST00000233027.5	-	2	338	c.136G>A	c.(136-138)Gag>Aag	p.E46K	NEK4_ENST00000383721.4_Missense_Mutation_p.E46K|NEK4_ENST00000535191.1_Intron	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	46	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.E46*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GCTCGCCGCTCTCGGCTAGAG	0.453000													24	91					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95734679	95734679	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr5:95734679C>G	ENST00000311106.3	-	11	1729	c.1492G>C	c.(1492-1494)Gaa>Caa	p.E498Q	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.E451Q	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	498					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATAGCATTTTCTTGTCCTTCA	0.373000													10	18					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121481250	121481250	+	Splice_Site	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr6:121481250C>G	ENST00000275159.6	-	25	2802		c.e25-1		TBC1D32_ENST00000398212.2_Splice_Site|TBC1D32_ENST00000398197.2_Splice_Site					TBC1 domain family, member 32																		GATTATCACTCTAAAAAAGAA	0.318000													13	38					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44085040	44085040	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:44085040C>T	ENST00000359947.4	+	28	5068	c.4728C>T	c.(4726-4728)atC>atT	p.I1576I	PTPRF_ENST00000372413.3_Silent_p.I1567I|PTPRF_ENST00000422171.2_Silent_p.I935I|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.I1576I|PTPRF_ENST00000438120.1_Silent_p.I1567I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1576	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGGTGGACATCTATGGCCACG	0.607000													19	56					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262123	140262123	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr5:140262123C>T	ENST00000289272.2	+	1	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.I90I|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.592000													76	277					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41782186	41782186	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:41782186C>T	ENST00000318588.9	-	1	101	c.56G>A	c.(55-57)gGa>gAa	p.G19E	CASK_ENST00000378166.4_Missense_Mutation_p.G19E|CASK_ENST00000442742.2_Missense_Mutation_p.G19E|CASK_ENST00000378163.1_Missense_Mutation_p.G19E|CASK_ENST00000378158.1_Missense_Mutation_p.G19E|CASK_ENST00000378154.1_Missense_Mutation_p.G19E|CASK_ENST00000361962.4_Missense_Mutation_p.G19E|CASK_ENST00000421587.2_Missense_Mutation_p.G19E			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	19	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GACTCACTTTCCGATCACCTC	0.647000													10	53					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123005625	123005625	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr3:123005625C>T	ENST00000462833.1	-	20	4776	c.3564G>A	c.(3562-3564)gtG>gtA	p.V1188V	ADCY5_ENST00000309879.5_Silent_p.V838V|ADCY5_ENST00000491190.1_Silent_p.V846V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1188	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTGCCCCTATCACCCCGGCCA	0.617000											OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	47					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45558281	45558281	+	Silent	SNP	C	C	T	rs138667523	byFrequency	TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr15:45558281C>T	ENST00000347644.3	+	10	929	c.864C>T	c.(862-864)gtC>gtT	p.V288V	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	288					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		tcTTCTAGGTCGCCTGGTTTT	0.448000													9	27					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62844970	62844970	+	Missense_Mutation	SNP	A	A	C	rs35509508		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr20:62844970A>C	ENST00000536311.1	+	10	1965	c.1601A>C	c.(1600-1602)aAg>aCg	p.K534T	MYT1_ENST00000328439.1_Missense_Mutation_p.K534T|MYT1_ENST00000360149.4_Missense_Mutation_p.K236T			Q01538	MYT1_HUMAN	myelin transcription factor 1	534					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GATCCTTCCAAGAGTAGCTCC	0.542000													5	46					0	0	1	0	0
THAP7	80764	broad.mit.edu	37	22	21354342	21354342	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr22:21354342T>C	ENST00000215742.4	-	4	931	c.757A>G	c.(757-759)Aag>Gag	p.K253E	THAP7_ENST00000399133.2_Missense_Mutation_p.K253E	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	253					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGCTGGGCCTTGTCAAGGGCA	0.672000													14	43					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919264	21919264	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:21919264G>A	ENST00000240662.2	-	3	1013	c.668C>T	c.(667-669)gCc>gTc	p.A223V	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	223						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GCGCACAGAGGCACTAATGAT	0.498000													22	98					0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	18995036	18995036	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:18995036G>A	ENST00000427170.2	-	3	521	c.450C>T	c.(448-450)gcC>gcT	p.A150A	CERS1_ENST00000542296.2_Silent_p.A52A|CERS1_ENST00000429504.2_Silent_p.A150A|GDF1_ENST00000247005.6_5'UTR	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	150	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						GCAGGTAGGCGGCTGCAATGT	0.612000													13	34					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68040016	68040016	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr14:68040016C>G	ENST00000329153.5	+	12	1884	c.1752C>G	c.(1750-1752)taC>taG	p.Y584*		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	584	PH 1.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGTCGGGCTACCTGCTGAAAA	0.547000													27	55					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112675	59112675	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr14:59112675C>T	ENST00000395153.3	+	4	1370	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	DACT1_ENST00000335867.4_Missense_Mutation_p.S445F|DACT1_ENST00000556859.1_Missense_Mutation_p.S164F|DACT1_ENST00000541264.2_Missense_Mutation_p.S164F	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	445					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGCGCTGCCTCCGACCTTCAG	0.597000													27	108					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899926	151899926	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:151899926T>C	ENST00000393900.3	-	3	1228	c.875A>G	c.(874-876)aAg>aGg	p.K292R	MAGEA12_ENST00000357916.4_Missense_Mutation_p.K292R|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.K292R	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	292	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTGATCTTTAGCAAATG	0.562000													79	318					0	0	1	0	0
UBA5	79876	broad.mit.edu	37	3	132394703	132394703	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr3:132394703A>T	ENST00000356232.4	+	11	2139	c.1067A>T	c.(1066-1068)aAt>aTt	p.N356I	UBA5_ENST00000264991.4_Missense_Mutation_p.N300I|UBA5_ENST00000494238.2_Missense_Mutation_p.N300I|UBA5_ENST00000493720.2_Missense_Mutation_p.N356I|UBA5_ENST00000473651.1_Intron	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	356					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GAACTGAAAAATTTTTCAGGT	0.313000													6	19					0	0	1	0	0
PNOC	5368	broad.mit.edu	37	8	28196811	28196811	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr8:28196811G>T	ENST00000301908.3	+	3	589	c.381G>T	c.(379-381)caG>caT	p.Q127H	PNOC_ENST00000522209.1_Missense_Mutation_p.Q63H	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	127					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.Q127Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		AGCAGCTGCAGAAGAGATTTG	0.592000													9	65					0.00621372	0.00634105	1	1	0
VCAN	1462	broad.mit.edu	37	5	82789629	82789629	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr5:82789629C>T	ENST00000265077.3	+	5	1192	c.627C>T	c.(625-627)ccC>ccT	p.P209P	VCAN_ENST00000513984.1_Silent_p.P209P|VCAN_ENST00000502527.2_Silent_p.P209P|VCAN_ENST00000343200.5_Silent_p.P209P|VCAN_ENST00000512590.2_Silent_p.P161P|VCAN_ENST00000342785.4_Silent_p.P209P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	209	Link 1.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCAGATATCCCATCCGGGCTC	0.478000													24	68					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113773141	113773141	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr13:113773141C>A	ENST00000375581.3	+	9	1255	c.1220C>A	c.(1219-1221)cCa>cAa	p.P407Q	F7_ENST00000346342.3_Missense_Mutation_p.P385Q|F7_ENST00000541084.1_Missense_Mutation_p.P338Q	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	407	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AGTGGAGGCCCACATGCCACC	0.632000													13	30					1.5842e-08	1.65742e-08	1	1	0
RABGGTA	5875	broad.mit.edu	37	14	24737134	24737134	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr14:24737134C>T	ENST00000399409.3	-	12	1661	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q	RABGGTA_ENST00000560777.1_Missense_Mutation_p.R2Q|RABGGTA_ENST00000216840.6_Missense_Mutation_p.R393Q	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	393					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GTCCAGTGCCCGCATCAGCAG	0.592000													24	31					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149276282	149276282	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr5:149276282C>T	ENST00000255266.5	-	11	1584	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	489					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACCAGGATCTCAGCCAGCTCC	0.527000													35	186					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35627252	35627252	+	Silent	SNP	T	T	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr20:35627252T>A	ENST00000373664.3	-	22	3183	c.3117A>T	c.(3115-3117)gcA>gcT	p.A1039A		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	1039					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CAGGGGATTCTGCATCACTAT	0.408000													17	60					0	0	1	0	0
PNOC	5368	broad.mit.edu	37	8	28196868	28196868	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr8:28196868G>C	ENST00000301908.3	+	3	646	c.438G>C	c.(436-438)caG>caC	p.Q146H	PNOC_ENST00000522209.1_Missense_Mutation_p.Q82H	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	146					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		TGGCCAATCAGAAGCGGTTCA	0.587000													14	63					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303689	5303689	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr5:5303689C>G	ENST00000274181.7	+	20	3134	c.2996C>G	c.(2995-2997)tCa>tGa	p.S999*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	999	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTGCAGTGCTCACACACCTGT	0.637000													14	62					0	0	1	0	0
TMEM107	84314	broad.mit.edu	37	17	8079317	8079317	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr17:8079317G>C	ENST00000532998.1	-	2	201	c.115C>G	c.(115-117)Ctc>Gtc	p.L39V	TMEM107_ENST00000533070.1_Missense_Mutation_p.L39V|TMEM107_ENST00000316425.5_Missense_Mutation_p.L39V|TMEM107_ENST00000437139.2_Missense_Mutation_p.L39V|TMEM107_ENST00000431792.2_Missense_Mutation_p.L39V|TMEM107_ENST00000449985.2_Intron			Q6UX40	TM107_HUMAN	transmembrane protein 107	39						integral to membrane				large_intestine(1)|lung(4)|ovary(1)	6						GTGAACGTGAGAGGCAGGCAG	0.612000													20	55					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67682819	67682819	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr16:67682819G>A	ENST00000334583.6	+	17	1861	c.1533G>A	c.(1531-1533)gtG>gtA	p.V511V	RLTPR_ENST00000545661.1_Silent_p.V475V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	511										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCGCCCAGGTGATACAAGACT	0.662000													6	17					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997122	144997122	+	Silent	SNP	G	G	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr8:144997122G>C	ENST00000322810.4	-	31	7555	c.7386C>G	c.(7384-7386)ctC>ctG	p.L2462L	PLEC_ENST00000357649.2_Silent_p.L2329L|PLEC_ENST00000354958.2_Silent_p.L2303L|PLEC_ENST00000354589.3_Silent_p.L2325L|PLEC_ENST00000527096.1_Silent_p.L2348L|PLEC_ENST00000398774.2_Silent_p.L2293L|PLEC_ENST00000356346.3_Silent_p.L2311L|PLEC_ENST00000345136.3_Silent_p.L2325L|PLEC_ENST00000436759.2_Silent_p.L2352L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2462	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCAGCCTTGAGTCGCGTGG	0.667000													3	13					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107319	168107319	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:168107319C>G	ENST00000409195.1	+	9	9506	c.9417C>G	c.(9415-9417)aaC>aaG	p.N3139K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N2917K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.N3139K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2964					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTACTAAGAACGAGCTTTCTC	0.448000													22	120					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155526064	155526064	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr4:155526064C>T	ENST00000404648.3	-	9	1523	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L	FGG_ENST00000405164.1_Silent_p.L436L|FGG_ENST00000336098.3_Silent_p.L428L|FGG_ENST00000407946.1_Silent_p.L436L	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	428	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGGCTCCCCCCAGGTGGTGTT	0.458000													28	107					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237801747	237801747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:237801747G>T	ENST00000366574.2	+	45	7200	c.6883G>T	c.(6883-6885)Gga>Tga	p.G2295*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.G2279*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.G2293*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2295	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G2293R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCAGTTGAAGGAGAGAGATA	0.413000													50	147					4.86159e-25	5.33276e-25	1	1	0
CLDN14	23562	broad.mit.edu	37	21	37833708	37833708	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr21:37833708C>T	ENST00000399137.1	-	3	1152	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	CLDN14_ENST00000399135.1_Missense_Mutation_p.A96T|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000342108.2_Missense_Mutation_p.A96T|CLDN14_ENST00000399136.1_Missense_Mutation_p.A96T|CLDN14_ENST00000399139.1_Missense_Mutation_p.A96T|AP000695.4_ENST00000428667.1_RNA	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	96					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						ACGGCGCAGGCGCAGGCTATG	0.677000													6	94					0	0	1	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593708	45593708	+	Silent	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:45593708T>C	ENST00000270257.4	+	3	583	c.336T>C	c.(334-336)ggT>ggC	p.G112G	GEMIN7_ENST00000391951.2_Silent_p.G112G|GEMIN7_ENST00000591607.1_Silent_p.G112G|GEMIN7_ENST00000591747.1_Silent_p.G112G	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	112					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CTCCCATAGGTGTGCAAGCAG	0.522000													14	79					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61526264	61526264	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr20:61526264C>T	ENST00000266070.4	-	10	2659	c.2334G>A	c.(2332-2334)gtG>gtA	p.V778V	DIDO1_ENST00000395343.1_Silent_p.V778V|DIDO1_ENST00000395340.1_Silent_p.V778V|DIDO1_ENST00000395335.2_Silent_p.V778V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	778	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGACTCCATCACCTGAAATG	0.488000													28	108					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56885582	56885582	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr4:56885582G>T	ENST00000257287.4	+	23	3200	c.3076G>T	c.(3076-3078)Gag>Tag	p.E1026*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1026					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ACTTTCAAATGAGAGACATAC	0.348000													5	32					0.000602214	0.000622205	1	1	0
AGTR2	186	broad.mit.edu	37	X	115304525	115304525	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:115304525G>T	ENST00000371906.4	+	3	1182	c.992G>T	c.(991-993)aGt>aTt	p.S331I		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	331					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						AAGCTCCGCAGTGTGTTTAGG	0.453000													79	112					3.1711e-36	3.49382e-36	1	1	0
SNRPD2	6633	broad.mit.edu	37	19	46190952	46190952	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:46190952C>T	ENST00000342669.3	-	3	660	c.216G>A	c.(214-216)gaG>gaA	p.E72E	SNRPD2_ENST00000590212.1_3'UTR|SNRPD2_ENST00000588599.1_Silent_p.E62E|SNRPD2_ENST00000391932.3_Silent_p.E62E|SNRPD2_ENST00000587367.1_Silent_p.E62E|SNRPD2_ENST00000588301.1_Silent_p.E72E|SNRPD2_ENST00000585392.1_Silent_p.E8E	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	72					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CAGTCCACATCTCCTTCACGT	0.597000													22	64					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39868164	39868164	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:39868164G>A	ENST00000314471.6	+	10	2179	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	SAMD4B_ENST00000598913.1_Missense_Mutation_p.E382K|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	382							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGCTCTGCAGGAGCTGCAGCA	0.607000													15	67					0	0	1	0	0
NYX	60506	broad.mit.edu	37	X	41333266	41333266	+	Missense_Mutation	SNP	C	C	T	rs62637027		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:41333266C>T	ENST00000342595.2	+	2	1016	c.560C>T	c.(559-561)gCg>gTg	p.A187V	NYX_ENST00000378220.1_Missense_Mutation_p.A187V	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	187			A -> K (in CSNB1A; requires 2 nucleotide substitutions).		response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTGACGCACGCGCACCTGGAG	0.761000													4	4					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115524069	115524069	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:115524069C>T	ENST00000369522.3	+	29	2735	c.2495C>T	c.(2494-2496)tCc>tTc	p.S832F	SYCP1_ENST00000369518.1_Missense_Mutation_p.S832F|SYCP1_ENST00000477590.1_3'UTR	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	832					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGGCATATCCAAAGATAAA	0.323000													11	52					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76587220	76587220	+	Silent	SNP	G	G	T	rs144247939	by1000genomes	TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr16:76587220G>T	ENST00000307431.8	+	23	3865	c.3480G>T	c.(3478-3480)gcG>gcT	p.A1160A	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.A1164A|CNTNAP4_ENST00000478060.1_Silent_p.A1088A|CNTNAP4_ENST00000377504.4_Silent_p.A1112A	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1161	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGCAGGTGCGCAGGGCTTCA	0.532000													6	14					0.00116845	0.00120224	1	1	0
XIAP	331	broad.mit.edu	37	X	123022477	123022477	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:123022477G>A	ENST00000371199.3	+	3	1185	c.886G>A	c.(886-888)Gat>Aat	p.D296N	XIAP_ENST00000355640.3_Missense_Mutation_p.D296N|XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Missense_Mutation_p.D296N	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	296					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AGGTGAAGGTGATAAAGTAAA	0.368000									X-linked Lymphoproliferative syndrome				20	92					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52775663	52775663	+	Splice_Site	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr20:52775663C>T	ENST00000216862.3	-	8	1384		c.e8-1		CYP24A1_ENST00000395954.3_Splice_Site|CYP24A1_ENST00000395955.3_Splice_Site	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1						hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGTTTGCTGTCTGCAAGCCAA	0.368000													11	49					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178936980	178936980	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:178936980G>A	ENST00000286063.6	-	1	502	c.185C>T	c.(184-186)gCt>gTt	p.A62V	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GGTGCTGTGAGCCAAGCTGCT	0.627000									Primary Pigmented Nodular Adrenocortical Disease, Familial				4	28					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455522	187455522	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr4:187455522C>A	ENST00000307161.5	-	2	575	c.374G>T	c.(373-375)cGc>cTc	p.R125L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	125					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GTAGCAGTAGCGGTTGATGGC	0.567000													16	49					0.00316338	0.00324149	1	1	0
CABIN1	23523	broad.mit.edu	37	22	24562743	24562743	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr22:24562743C>G	ENST00000398319.2	+	32	5529	c.5144C>G	c.(5143-5145)tCa>tGa	p.S1715*	CABIN1_ENST00000337989.7_Nonsense_Mutation_p.S140*|CABIN1_ENST00000263119.5_Nonsense_Mutation_p.S1715*|CABIN1_ENST00000405822.2_Nonsense_Mutation_p.S1636*	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1715					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTGATGGCTCAGGGCCAGGG	0.667000													14	64					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33287435	33287435	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr6:33287435C>T	ENST00000374542.5	-	6	1866	c.1662G>A	c.(1660-1662)gaG>gaA	p.E554E	DAXX_ENST00000266000.6_Silent_p.E554E|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Silent_p.E479E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	554	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CCAGGGTCAGCTCCTCAGGCT	0.522000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								34	64					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	2004138	2004138	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr16:2004138C>G	ENST00000268661.7	-	2	109	c.15G>C	c.(13-15)aaG>aaC	p.K5N		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	5					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GGGCGGAAAACTTCCGGTGGG	0.652000													3	12					0	0	1	0	0
ZSCAN9	7746	broad.mit.edu	37	6	28195601	28195601	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr6:28195601C>T	ENST00000527436.1	+	3	655	c.554C>T	c.(553-555)tCt>tTt	p.S185F	ZSCAN9_ENST00000531981.1_3'UTR|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.S185F|ZSCAN9_ENST00000252207.5_Missense_Mutation_p.S185F|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.S185F					zinc finger and SCAN domain containing 9																		AAGTGCCATTCTATTGGAGAG	0.483000													11	23					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17786443	17786443	+	Silent	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr9:17786443A>G	ENST00000380607.4	+	4	372	c.252A>G	c.(250-252)ccA>ccG	p.P84P	SH3GL2_ENST00000537391.1_Silent_p.P37P	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	84	BAR.|Binds and tubulates liposomes (By similarity).|Required for dimerization upon membrane association (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGAAGGGGCCAGGCTATCCTC	0.507000													17	93					0	0	1	0	0
SLC16A4	9122	broad.mit.edu	37	1	110919739	110919739	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:110919739C>T	ENST00000369779.4	-	7	1324	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	SLC16A4_ENST00000472422.2_Missense_Mutation_p.D311N|SLC16A4_ENST00000541986.1_Missense_Mutation_p.D297N|SLC16A4_ENST00000369781.4_Missense_Mutation_p.D191N|SLC16A4_ENST00000437429.2_Missense_Mutation_p.D249N	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	359						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CAGTTTTGATCAGCAACCCAT	0.408000													17	70					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28737511	28737511	+	Silent	SNP	C	C	G	rs147816863		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr18:28737511C>G	ENST00000257197.3	-	3	435	c.174G>C	c.(172-174)tcG>tcC	p.S58S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.S58S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	58					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTAGGCTGGCCGACTTGAGAC	0.448000													12	75					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871682	13871682	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr5:13871682G>C	ENST00000265104.4	-	23	3693	c.3589C>G	c.(3589-3591)Ctg>Gtg	p.L1197V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1197	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGTGTACAGAGCAATGGAA	0.383000									Kartagener syndrome				8	60					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97082694	97082694	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr9:97082694C>T	ENST00000335456.7	-	6	1139	c.1119G>A	c.(1117-1119)gaG>gaA	p.E373E	NUTM2F_ENST00000341207.4_Silent_p.E373E|NUTM2F_ENST00000253262.4_Silent_p.E388E					NUT family member 2F																		GGGGGATCTCCTCAGGGACCT	0.667000													107	104					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19427660	19427660	+	Silent	SNP	G	G	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:19427660G>C	ENST00000538714.1	+	10	1042	c.1038G>C	c.(1036-1038)ctG>ctC	p.L346L	PLEKHA5_ENST00000309364.4_Silent_p.L346L|PLEKHA5_ENST00000424268.1_Silent_p.L238L|PLEKHA5_ENST00000355397.3_Silent_p.L346L|PLEKHA5_ENST00000543806.1_Silent_p.L238L|PLEKHA5_ENST00000359180.3_Silent_p.L346L|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Silent_p.L352L|PLEKHA5_ENST00000539256.1_Silent_p.L104L|PLEKHA5_ENST00000299275.6_Silent_p.L346L|PLEKHA5_ENST00000317589.4_Silent_p.L346L	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	346							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GTGTAAAGCTGAATTCTCTGC	0.383000													21	85					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161596010	161596010	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:161596010C>T	ENST00000294800.3	-	4	775	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	FCGR3B_ENST00000367964.2_Missense_Mutation_p.G168S|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.G204S	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	168	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAGTAGGAGCCGCTATCTTTG	0.443000													13	82					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133336155	133336155	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr3:133336155C>G	ENST00000260810.5	-	22	3739	c.3608G>C	c.(3607-3609)gGa>gCa	p.G1203A		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1203					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACGTATGTTTCCAGGATCACA	0.443000								Other conserved DNA damage response genes					17	23					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44928992	44928992	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:44928992C>T	ENST00000377967.4	+	17	2133	c.2092C>T	c.(2092-2094)Cac>Tac	p.H698Y	KDM6A_ENST00000543216.1_Missense_Mutation_p.H619Y|KDM6A_ENST00000382899.4_Missense_Mutation_p.H705Y|KDM6A_ENST00000536777.1_Missense_Mutation_p.H653Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	698					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGCTCTCAATCACCTCTCCTC	0.517000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								17	25					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640829	3640829	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr16:3640829C>T	ENST00000294008.3	-	12	3450	c.2810G>A	c.(2809-2811)gGg>gAg	p.G937E		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	937	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCCCCGTGCCCCTGAGTGCTG	0.667000								Direct reversal of damage					34	97					0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40880474	40880474	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:40880474C>T	ENST00000409587.1	+	10	1363	c.966C>T	c.(964-966)atC>atT	p.I322I	PLD3_ENST00000409735.4_Silent_p.I322I|PLD3_ENST00000356508.5_Silent_p.I322I|PLD3_ENST00000409419.1_Silent_p.I322I|PLD3_ENST00000409281.1_Silent_p.I322I			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	322					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGAGTTTCATCTACGTCGCTG	0.612000													35	164					0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95561032	95561032	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr11:95561032A>G	ENST00000325542.5	+	9	1206	c.968A>G	c.(967-969)aAt>aGt	p.N323S	CEP57_ENST00000325486.5_Missense_Mutation_p.N297S|CEP57_ENST00000541150.1_Missense_Mutation_p.N314S|CEP57_ENST00000537677.1_Missense_Mutation_p.N296S	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	323	Mediates interaction with microtubules (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTTTGTGCAATGATCGAGTC	0.433000									Mosaic Variegated Aneuploidy Syndrome				22	74					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44929551	44929551	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:44929551C>G	ENST00000377967.4	+	17	2692	c.2651C>G	c.(2650-2652)tCa>tGa	p.S884*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.S805*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.S891*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.S839*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	884					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATCATACCATCAATGTCTGTG	0.433000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								19	38					0	0	1	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989635	22989635	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr22:22989635C>T	ENST00000480559.1	+	4	385	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S	GGTLC2_ENST00000448514.1_Intron	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	129					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TGATCACACTCCCATGCCCCA	0.617000													8	65					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242586	3242586	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:3242586C>G	ENST00000217939.6	-	5	1294	c.1140G>C	c.(1138-1140)ttG>ttC	p.L380F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	380						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTATGCTATCAATTTCCATA	0.458000													25	32					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69726024	69726024	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr16:69726024G>A	ENST00000349945.1	+	14	3566	c.2014G>A	c.(2014-2016)Gaa>Aaa	p.E672K	NFAT5_ENST00000432919.1_Missense_Mutation_p.E766K|NFAT5_ENST00000354436.2_Missense_Mutation_p.E748K|NFAT5_ENST00000567239.1_Missense_Mutation_p.E765K|NFAT5_ENST00000566899.1_Missense_Mutation_p.E672K|NFAT5_ENST00000393742.2_Missense_Mutation_p.E672K	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	748					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACCACTACAAGAACAAGCACA	0.413000													18	74					0	0	1	0	0
ABHD15	116236	broad.mit.edu	37	17	27889648	27889648	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr17:27889648C>G	ENST00000307201.4	-	2	1508	c.1338G>C	c.(1336-1338)caG>caC	p.Q446H	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	446						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CTTCCCGCCTCTGCAAGGCTC	0.572000													39	52					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19746265	19746265	+	Missense_Mutation	SNP	C	C	T	rs146115077		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:19746265C>T	ENST00000203556.4	-	15	1656	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Missense_Mutation_p.E478K|GMIP_ENST00000587238.1_Missense_Mutation_p.E481K	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	507					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCTTCGCACTCGCGGCACTTG	0.632000													23	77					0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30690766	30690766	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr6:30690766C>T	ENST00000396389.1	+	3	777	c.184C>T	c.(184-186)Cct>Tct	p.P62S	TUBB_ENST00000435534.1_Missense_Mutation_p.P80S|TUBB_ENST00000396384.1_Missense_Mutation_p.P8S|TUBB_ENST00000327892.8_Missense_Mutation_p.P80S|TUBB_ENST00000330914.3_Missense_Mutation_p.P8S			P07437	TBB5_HUMAN	tubulin, beta class I	80					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCGCTCAGGTCCTTTTGGCCA	0.428000													11	90					0	0	1	0	0
TTR	7276	broad.mit.edu	37	18	29178548	29178548	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr18:29178548C>T	ENST00000237014.3	+	4	531	c.354C>T	c.(352-354)aaC>aaT	p.N118N		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	118					transport	cytoplasm	hormone activity			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	TCACAGCCAACGACTCCGGCC	0.562000													17	55					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103825279	103825279	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr10:103825279C>T	ENST00000299238.5	+	1	133	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	16						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TGAGCGCCTTCGGCGGCGCGG	0.761000									Hermansky-Pudlak syndrome				3	17					0	0	1	0	0
AKR1C2	1646	broad.mit.edu	37	10	5037998	5037998	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr10:5037998G>A	ENST00000380753.4	-	6	817	c.630C>T	c.(628-630)gaC>gaT	p.D210D	AKR1C2_ENST00000407674.1_Silent_p.D210D|AKR1C2_ENST00000421196.3_Silent_p.D184D|RP11-499O7.7_ENST00000451575.2_RNA	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	210					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	CCAGAACAATGTCTTTTGACT	0.398000													10	47					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666499	34666499	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:34666499T>A	ENST00000488417.1	+	3	1256	c.1136T>A	c.(1135-1137)cTg>cAg	p.L379Q	C1orf94_ENST00000373374.3_Missense_Mutation_p.L189Q	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	189							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ACCGCATCACTGACCCTGCCG	0.592000													22	74					0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2353075	2353075	+	RNA	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:2353075G>T	ENST00000452401.2	+	0	1787				LLfos-48D6.1_ENST00000609490.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGAGCAGTCCCCAAAAT	0.701000													3	33					0.115264	0.115264	1	1	0
AIM1	202	broad.mit.edu	37	6	106991426	106991426	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr6:106991426C>T	ENST00000369066.3	+	9	4256	c.3769C>T	c.(3769-3771)Cat>Tat	p.H1257Y	AIM1_ENST00000535438.1_Missense_Mutation_p.H76Y	NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1257	Beta/gamma crystallin 'Greek key' 5.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGGAGACGATCATTTGCCGTT	0.398000													46	155					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62191928	62191928	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr20:62191928G>C	ENST00000467148.1	-	16	7473	c.7404C>G	c.(7402-7404)atC>atG	p.I2468M	HELZ2_ENST00000427522.2_Missense_Mutation_p.I1899M	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CGTGGCCAAAGATGACAGGGC	0.637000													35	111					0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62374261	62374261	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr20:62374261G>A	ENST00000266077.2	+	8	1134	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	361						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AAGAAGTGCCGGAAGGTGTAT	0.662000													3	32					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27254014	27254014	+	Silent	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr17:27254014G>T	ENST00000577226.1	-	3	662	c.316C>A	c.(316-318)Cga>Aga	p.R106R	PHF12_ENST00000332830.4_Silent_p.R106R|PHF12_ENST00000268756.3_Silent_p.R106R|RP11-20B24.5_ENST00000580782.1_RNA|RP11-20B24.5_ENST00000582631.1_RNA			Q96QT6	PHF12_HUMAN	PHD finger protein 12	106	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATTACCTTTCGGCGAACAGTG	0.493000													15	73					2.32078e-09	2.43829e-09	1	1	0
RC3H1	149041	broad.mit.edu	37	1	173934254	173934254	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:173934254G>A	ENST00000367696.2	-	10	1690	c.1339C>T	c.(1339-1341)Cgt>Tgt	p.R447C	RC3H1_ENST00000367694.2_Missense_Mutation_p.R447C|RC3H1_ENST00000258349.4_Missense_Mutation_p.R447C			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	447					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TTCATTTTACGAAATCTATAT	0.368000													12	42					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924439	45924439	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr11:45924439T>C	ENST00000395629.2	+	5	1421	c.1091T>C	c.(1090-1092)cTg>cCg	p.L364P	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.L374P			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	374					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		ACCAGCGCCCTGTCCTATGAC	0.672000													5	11					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85680720	85680720	+	Silent	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:85680720T>C	ENST00000316824.3	+	3	776	c.621T>C	c.(619-621)taT>taC	p.Y207Y		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	207					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.Y207*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CTGCCACCTATGATATATCAG	0.368000													11	72					0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124794018	124794018	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr10:124794018G>T	ENST00000358776.4	+	2	203	c.189G>T	c.(187-189)atG>atT	p.M63I	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_5'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	63					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	AGGAAATGATGATAAAGAGTT	0.418000													5	46					0.014758	0.0149989	1	1	0
EGR1	1958	broad.mit.edu	37	5	137803517	137803517	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr5:137803517C>A	ENST00000239938.4	+	2	1651	c.1379C>A	c.(1378-1380)tCc>tAc	p.S460Y		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	460					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			tcttatccatccccggccacc	0.622000													21	67					1.01871e-10	1.08867e-10	1	1	0
FAT4	79633	broad.mit.edu	37	4	126367500	126367500	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr4:126367500C>A	ENST00000394329.3	+	8	7259	c.7246C>A	c.(7246-7248)Caa>Aaa	p.Q2416K	FAT4_ENST00000335110.5_Missense_Mutation_p.Q714K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2416	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCGACAGGACAAATCATCAC	0.418000													25	78					1.10923e-09	1.17033e-09	1	1	0
APOL3	80833	broad.mit.edu	37	22	36537277	36537277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr22:36537277G>A	ENST00000424878.2	-	4	2728	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	APOL3_ENST00000397293.2_Nonsense_Mutation_p.Q323*|APOL3_ENST00000397287.2_Nonsense_Mutation_p.Q194*|APOL3_ENST00000361710.2_Nonsense_Mutation_p.Q194*|APOL3_ENST00000349314.2_Nonsense_Mutation_p.Q394*			O95236	APOL3_HUMAN	apolipoprotein L, 3	394					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TTCAGACGCTGATAGATCTGA	0.542000													38	135					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611293	17611293	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr8:17611293G>T	ENST00000381869.3	-	2	2497	c.2024C>A	c.(2023-2025)tCt>tAt	p.S675Y	MTUS1_ENST00000262102.6_Missense_Mutation_p.S675Y|MTUS1_ENST00000381862.3_Missense_Mutation_p.S675Y|MTUS1_ENST00000519263.1_Missense_Mutation_p.S675Y	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	675						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTTTTCCATAGATGTCCCATT	0.333000													18	35					8.00594e-06	8.34092e-06	1	1	0
UMOD	7369	broad.mit.edu	37	16	20357601	20357601	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr16:20357601C>T	ENST00000396134.2	-	6	1251	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	UMOD_ENST00000396138.4_Silent_p.S392S|UMOD_ENST00000424589.1_Silent_p.S376S|UMOD_ENST00000302509.4_Silent_p.S343S|UMOD_ENST00000396142.2_Silent_p.S343S|UMOD_ENST00000570689.1_Silent_p.S343S	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	343	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACTTGCCCAGCGACACCTTCA	0.547000													22	73					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46728949	46728949	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr13:46728949G>A	ENST00000398576.2	-	9	952	c.564C>T	c.(562-564)ttC>ttT	p.F188F	LCP1_ENST00000323076.2_Silent_p.F188F			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	188	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CCTGAATGGTGAAAGGGGTTA	0.393000			T	BCL6	NHL								8	52					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390437	8390437	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:8390437C>T	ENST00000471889.1	+	5	1269	c.884C>T	c.(883-885)cCg>cTg	p.P295L	SLC45A1_ENST00000377479.2_Missense_Mutation_p.P329L|SLC45A1_ENST00000289877.8_Missense_Mutation_p.P295L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	295					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCTGCGGCCGCCGAGTGAG	0.692000													10	65					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112901666	112901666	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr5:112901666A>G	ENST00000161863.4	+	21	3005	c.2792A>G	c.(2791-2793)gAa>gGa	p.E931G		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	931							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GCTACTATGGAAATAATCATA	0.403000													19	71					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119559911	119559911	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:119559911G>A	ENST00000267260.4	+	6	889	c.501G>A	c.(499-501)aaG>aaA	p.K167K		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	167	Lys-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAGATGAGAAGAGGCACAAGA	0.378000													15	56					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48033979	48033979	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:48033979A>G	ENST00000234420.5	+	10	4215	c.4063A>G	c.(4063-4065)Act>Gct	p.T1355A	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.T1225A|MSH6_ENST00000538136.1_Missense_Mutation_p.T1053A	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAATTGCTGACTTTGATTAA	0.308000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				20	37					0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100912134	100912134	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:100912134C>T	ENST00000328766.5	-	5	894	c.441G>A	c.(439-441)gaG>gaA	p.E147E	ARMCX2_ENST00000330154.2_Silent_p.E147E|ARMCX2_ENST00000356824.4_Silent_p.E147E	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	147	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCCCAAGGGCCTCTGTCACCC	0.637000													41	102					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66457341	66457341	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr11:66457341G>A	ENST00000533211.1	-	29	6215	c.5884C>T	c.(5884-5886)Cgc>Tgc	p.R1962C	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1962C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1962C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1962					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GAGGAGAAGCGGTCTGCCCGG	0.627000													4	109					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128938565	128938565	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:128938565C>T	ENST00000375990.3	+	36	4333	c.3930C>T	c.(3928-3930)atC>atT	p.I1310I	UGGT1_ENST00000259253.6_Silent_p.I1334I			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1334	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AACAGCGTATCATCTGGGGTT	0.428000													22	95					0	0	1	0	0
MIR587	693172	broad.mit.edu	37	6	107232029	107232029	+	RNA	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr6:107232029G>A	ENST00000384845.1	+	0	30					NR_030314.1																						cataggtgatgagtcacaggg	0.512000													18	60					0	0	1	0	0
KLHL17	339451	broad.mit.edu	37	1	898615	898615	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:898615G>T	ENST00000338591.3	+	7	1276	c.1169G>T	c.(1168-1170)cGg>cTg	p.R390L		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	390	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTGGGGAACCGGCTCTATGCT	0.682000													7	20					0.0293803	0.0297386	1	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702903	27702903	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr10:27702903C>T	ENST00000438700.3	-	1	394	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	93					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGGGGTGCATCGTCCAGCTCC	0.711000													17	53					0	0	1	0	0
SLC46A2	57864	broad.mit.edu	37	9	115652089	115652089	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr9:115652089G>A	ENST00000374228.4	-	1	1104	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	291						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GGTCATATATGATAGCACCCA	0.532000													46	71					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87865442	87865442	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr6:87865442G>T	ENST00000369577.3	+	1	176	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.E45*|ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000392985.3_Nonsense_Mutation_p.E45*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACCGGCCGTGGAAGCGGCCAC	0.721000													9	8					0.0581538	0.0586246	1	1	0
ZSWIM4	65249	broad.mit.edu	37	19	13915874	13915874	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:13915874C>T	ENST00000254323.2	+	3	813	c.624C>T	c.(622-624)atC>atT	p.I208I	ZSWIM4_ENST00000440752.2_5'Flank	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	208							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGTACCTCATCAGCGCCCATC	0.617000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	37					0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39974485	39974485	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr17:39974485A>G	ENST00000321562.4	+	3	640	c.536A>G	c.(535-537)tAc>tGc	p.Y179C		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	179	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TTTGTCCGCTACCACTACAAT	0.657000													4	108					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	136023144	136023144	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:136023144T>A	ENST00000401392.1	-	12	1711	c.1499A>T	c.(1498-1500)gAc>gTc	p.D500V	ZRANB3_ENST00000264159.6_Missense_Mutation_p.D500V|ZRANB3_ENST00000536680.1_Missense_Mutation_p.D500V			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	500						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTCAGAACTGTCATTTGGAGT	0.383000													13	20					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11147898	11147898	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:11147898C>T	ENST00000544779.1	-	8	909	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	EXOSC10_ENST00000376936.4_Missense_Mutation_p.E302K|EXOSC10_ENST00000304457.7_Missense_Mutation_p.E302K			Q01780	EXOSX_HUMAN	exosome component 10	302					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AAGAGCTTTTCGTTGAGTTCC	0.393000													5	101					0	0	1	0	0
PHOSPHO2	493911	broad.mit.edu	37	2	170557858	170557858	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:170557858C>T	ENST00000359744.3	+	4	765	c.377C>T	c.(376-378)gCa>gTa	p.A126V	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	126							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						ACAAATCCAGCAGCTTTTAAT	0.328000													6	43					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44929157	44929157	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:44929157C>G	ENST00000377967.4	+	17	2298	c.2257C>G	c.(2257-2259)Cag>Gag	p.Q753E	KDM6A_ENST00000543216.1_Missense_Mutation_p.Q674E|KDM6A_ENST00000382899.4_Missense_Mutation_p.Q760E|KDM6A_ENST00000536777.1_Missense_Mutation_p.Q708E	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	753					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCATGTCCATCAGATGACGGC	0.498000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								30	30					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131768953	131768953	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr9:131768953G>C	ENST00000372577.2	+	44	5267	c.5246G>C	c.(5245-5247)aGa>aCa	p.R1749T		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1749					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CATATGCAAAGATAGGGCAGT	0.612000											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	115					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421835	115421835	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr9:115421835G>A	ENST00000337530.6	+	4	1933	c.1637G>A	c.(1636-1638)tGt>tAt	p.C546Y	KIAA1958_ENST00000536272.1_Missense_Mutation_p.C574Y	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	546										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGGCAGGGTGTCTGGGGGAT	0.577000													6	31					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79364434	79364434	+	RNA	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:79364434C>G	ENST00000444841.1	-	0	200																											GGCAGCTGATCTGGGCCTTGG	0.507000													11	31					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3788651	3788651	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr16:3788651C>A	ENST00000262367.5	-	26	5112	c.4303G>T	c.(4303-4305)Gat>Tat	p.D1435Y	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1397Y	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1435	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.D1435Y(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAATACTATCCAGATAAGAA	0.433000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						4	29					0.00024832	0.000257632	1	1	0
AIM1	202	broad.mit.edu	37	6	106992480	106992480	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr6:106992480C>T	ENST00000369066.3	+	10	4337	c.3850C>T	c.(3850-3852)Cat>Tat	p.H1284Y	AIM1_ENST00000535438.1_Missense_Mutation_p.H103Y|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1284	Beta/gamma crystallin 'Greek key' 6.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATTTACCGGTCATCAGTATTT	0.403000													22	46					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581476	140581476	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr5:140581476C>T	ENST00000354757.3	+	1	2129	c.2129C>T	c.(2128-2130)gCg>gTg	p.A710V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A345V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		710					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTGGCGGTGCGGCTG	0.687000													77	210					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69173521	69173521	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:69173521G>A	ENST00000481498.1	-	5	405	c.387C>T	c.(385-387)gaC>gaT	p.D129D	GKN2_ENST00000328895.4_Silent_p.D129D			Q86XP6	GKN2_HUMAN	gastrokine 2	129	BRICHOS.					extracellular region		p.D129E(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						ACCAATCCACGTCTTTGATCA	0.448000													78	129					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296080	233296080	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:233296080T>C	ENST00000258229.9	-	19	3700	c.3466A>G	c.(3466-3468)Att>Gtt	p.I1156V	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Missense_Mutation_p.I289V	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGTGTGAAATCCACATCCAG	0.453000													5	35					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62238600	62238600	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr15:62238600G>C	ENST00000261517.5	-	44	4959	c.4886C>G	c.(4885-4887)gCc>gGc	p.A1629G	VPS13C_ENST00000249837.3_Missense_Mutation_p.A1586G|VPS13C_ENST00000395896.4_Missense_Mutation_p.A1629G|VPS13C_ENST00000395898.3_Missense_Mutation_p.A1586G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1629					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AGAAATAGAGGCATCCATTCC	0.333000													5	18					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231149118	231149118	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:231149118A>T	ENST00000392045.3	+	16	1670	c.1556A>T	c.(1555-1557)cAa>cTa	p.Q519L	SP140_ENST00000350136.5_Missense_Mutation_p.Q388L|SP140_ENST00000343805.6_Missense_Mutation_p.Q459L|SP140_ENST00000420434.3_Missense_Mutation_p.Q492L|SP140_ENST00000417495.3_Missense_Mutation_p.Q405L|SP140_ENST00000486687.2_Missense_Mutation_p.Q443L	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	519					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAAACAGCCAACAAAATGGT	0.428000													6	23					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40316928	40316928	+	Splice_Site	SNP	T	T	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr19:40316928T>A	ENST00000593685.1	-	10	1880		c.e10-2		DYRK1B_ENST00000597639.1_Splice_Site|DYRK1B_ENST00000348817.3_Splice_Site|DYRK1B_ENST00000430012.2_Splice_Site|DYRK1B_ENST00000323039.5_Splice_Site			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B						positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TGGAGCCTCCTGGAAGTGCCA	0.602000													28	52					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198266854	198266854	+	Splice_Site	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:198266854C>T	ENST00000335508.6	-	15	2169	c.2078G>A	c.(2077-2079)gGt>gAt	p.G693D	SF3B1_ENST00000462613.1_5'UTR	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCCACAAGACCTACAAAACC	0.418000			Mis		myelodysplastic syndrome								23	49					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116599379	116599379	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr8:116599379T>A	ENST00000395715.3	-	5	3126	c.2549A>T	c.(2548-2550)cAt>cTt	p.H850L	TRPS1_ENST00000519076.1_Missense_Mutation_p.H591L|TRPS1_ENST00000519674.1_Missense_Mutation_p.H837L|TRPS1_ENST00000520276.1_Missense_Mutation_p.H841L|TRPS1_ENST00000220888.5_Missense_Mutation_p.H837L	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	837					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCGCGCCAGATGGGCGGCCTC	0.607000									Langer-Giedion syndrome				42	90					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994827	143994827	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr8:143994827C>T	ENST00000323110.2	-	6	997	c.995G>A	c.(994-996)cGg>cAg	p.R332Q		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	332					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GTCGGGGTTCCGAGCCAGCTC	0.627000									Familial Hyperaldosteronism type I				58	132					0	0	1	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70523534	70523534	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:70523534C>T	ENST00000538820.1	+	6	812	c.472C>T	c.(472-474)Cga>Tga	p.R158*	ITGB1BP2_ENST00000373829.3_Nonsense_Mutation_p.R176*|ITGB1BP2_ENST00000465388.1_3'UTR			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	176	CHORD 2.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding	p.R176*(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					AGGAGCACCCCGATTCCATGA	0.483000													29	50					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	T	rs121913416		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr3:41266113C>T	ENST00000349496.5	+	3	390	c.110C>T	c.(109-111)tCt>tTt	p.S37F	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498000	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				15	31					0	0	1	0	0
SDCBP	6386	broad.mit.edu	37	8	59492193	59492193	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr8:59492193G>A	ENST00000523483.1	+	8	2164	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	SDCBP_ENST00000260130.4_Missense_Mutation_p.R197Q|SDCBP_ENST00000447182.2_Missense_Mutation_p.R196Q|SDCBP_ENST00000447267.2_Missense_Mutation_p.R143Q|SDCBP_ENST00000422546.2_Missense_Mutation_p.R196Q|SDCBP_ENST00000413219.2_Missense_Mutation_p.R197Q|SDCBP_ENST00000520168.1_Missense_Mutation_p.R138Q|SDCBP_ENST00000424270.2_Missense_Mutation_p.R191Q			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	197	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCCTTTGAACGGACGATTACC	0.323000													8	61					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36498939	36498939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr17:36498939C>T	ENST00000342292.4	-	1	754	c.734G>A	c.(733-735)tGg>tAg	p.W245*		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	245						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGTGATCAGCCATCCAGGTCG	0.577000													39	130					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145156752	145156752	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:145156752C>G	ENST00000558170.2	-	8	3186	c.2002G>C	c.(2002-2004)Gag>Cag	p.E668Q	ZEB2_ENST00000539609.3_Missense_Mutation_p.E644Q|ZEB2_ENST00000409487.3_Missense_Mutation_p.E668Q|ZEB2_ENST00000303660.4_Missense_Mutation_p.E668Q	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	668						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTTGGGCTCCATGTTCATA	0.443000													21	111					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15803921	15803921	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:15803921G>A	ENST00000281172.5	-	14	1706	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*	EPS8_ENST00000543612.1_Nonsense_Mutation_p.Q424*|EPS8_ENST00000540613.1_Nonsense_Mutation_p.Q164*|EPS8_ENST00000542903.1_Nonsense_Mutation_p.Q164*|EPS8_ENST00000543523.1_Nonsense_Mutation_p.Q424*	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	424	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GGAATAAACTGTTCTTTTGGC	0.443000													29	54					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132270588	132270588	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr5:132270588C>G	ENST00000265343.5	-	3	548	c.169G>C	c.(169-171)Gga>Cga	p.G57R	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.G57R	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	57					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCGTAGTTTCCAAGCATACTC	0.313000													15	72					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157406137	157406137	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:157406137C>T	ENST00000310454.6	+	7	1051	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	GPD2_ENST00000409674.1_Missense_Mutation_p.R227W|GPD2_ENST00000409125.4_5'UTR|GPD2_ENST00000438166.2_Missense_Mutation_p.R227W|GPD2_ENST00000540309.1_Missense_Mutation_p.R227W	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	227					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TAACGATGCACGGATGAACCT	0.542000													19	129					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59115320	59115320	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr17:59115320G>A	ENST00000589222.1	+	18	1901	c.1833G>A	c.(1831-1833)atG>atA	p.M611I	BCAS3_ENST00000407086.3_Missense_Mutation_p.M611I|BCAS3_ENST00000588874.1_Missense_Mutation_p.M382I|BCAS3_ENST00000390652.5_Missense_Mutation_p.M626I|BCAS3_ENST00000408905.3_Missense_Mutation_p.M611I|BCAS3_ENST00000585744.1_Missense_Mutation_p.M397I|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588462.1_Missense_Mutation_p.M626I			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	626						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGGAACACATGATGGAGCCGC	0.493000													24	160					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116930501	116930501	+	Silent	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr9:116930501G>T	ENST00000356083.3	+	3	1057	c.666G>T	c.(664-666)acG>acT	p.T222T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	222	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACCCTGTGACGCAGGTCGCTC	0.567000													23	115					4.26978e-12	4.60249e-12	1	1	0
GPR174	84636	broad.mit.edu	37	X	78427378	78427378	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:78427378T>C	ENST00000276077.1	+	1	910	c.874T>C	c.(874-876)Tac>Cac	p.Y292H		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	292						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CCCAGTCATATACTACTTTTC	0.403000										HNSCC(63;0.18)			17	85					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106969162	106969162	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr6:106969162C>G	ENST00000369066.3	+	2	3342	c.2855C>G	c.(2854-2856)tCa>tGa	p.S952*		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	952							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCTGAATTGTCAAAACTGAAG	0.373000													11	37					0	0	1	0	0
CKAP2	26586	broad.mit.edu	37	13	53036541	53036541	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr13:53036541A>G	ENST00000378037.5	+	5	1237	c.1147A>G	c.(1147-1149)Aaa>Gaa	p.K383E	CKAP2_ENST00000490903.1_Missense_Mutation_p.K334E|CKAP2_ENST00000378034.3_Missense_Mutation_p.K382E|CKAP2_ENST00000258607.5_Missense_Mutation_p.K382E	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	383					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AAGAGTGCTAAAAAGGCCCCC	0.423000													12	46					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235943646	235943646	+	Translation_Start_Site	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr2:235943646G>A	ENST00000409212.1	+	0	507				SH3BP4_ENST00000344528.4_De_novo_Start_InFrame|SH3BP4_ENST00000392011.2_De_novo_Start_InFrame			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4						endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CGAGTTTCGAGATGGCGGCTC	0.567000													11	47					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158812190	158812190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:158812190C>T	ENST00000368141.4	+	2	508	c.247C>T	c.(247-249)Cga>Tga	p.R83*	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	83	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TAACAATCTTCGAAAAGAGAA	0.408000													4	121					0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56142751	56142751	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:56142751C>T	ENST00000257868.5	+	2	864	c.827C>T	c.(826-828)cCg>cTg	p.P276L		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	276					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.P276L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TCCCTGGGGCCGGGAGCCGAG	0.597000													6	20					0	0	1	0	0
MCUR1	63933	broad.mit.edu	37	6	13799101	13799101	+	Silent	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr6:13799101T>C	ENST00000379170.4	-	6	957	c.819A>G	c.(817-819)ttA>ttG	p.L273L		NM_001031713.3	NP_001026883.1			mitochondrial calcium uniporter regulator 1																		GGTTGAAGTCTAATTTGGTAT	0.338000													7	16					0	0	1	0	0
PSMD9	5715	broad.mit.edu	37	12	122332675	122332675	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:122332675G>A	ENST00000541212.1	+	2	295	c.169G>A	c.(169-171)Gtg>Atg	p.V57M	PSMD9_ENST00000542602.1_Intron|PSMD9_ENST00000340175.5_Missense_Mutation_p.V57M|RP11-87C12.2_ENST00000546333.1_Missense_Mutation_p.V57M|PSMD9_ENST00000261817.2_Missense_Mutation_p.V57M			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	57					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CGAGCCGCTGGTGGACTGTGA	0.552000											OREG0022210	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	24					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720821	146720821	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr6:146720821G>A	ENST00000392299.2	+	8	3116	c.2646G>A	c.(2644-2646)ggG>ggA	p.G882G	GRM1_ENST00000361719.2_Silent_p.G882G|GRM1_ENST00000492807.2_Silent_p.G882G|GRM1_ENST00000355289.4_Silent_p.G882G|GRM1_ENST00000282753.1_Silent_p.G882G|GRM1_ENST00000507907.1_Silent_p.G882G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	882					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGAAGGCAGGGGCAGGGAATG	0.502000													4	15					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101138730	101138730	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chrX:101138730A>C	ENST00000458570.1	-	9	2486	c.1156T>G	c.(1156-1158)Tcc>Gcc	p.S386A	ZMAT1_ENST00000540921.1_Missense_Mutation_p.S557A|ZMAT1_ENST00000372782.3_Missense_Mutation_p.S557A|ZMAT1_ENST00000494068.1_5'UTR	NM_001282401.1	NP_001269330.1	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	386						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTATGCTTGGACTGCTCTTTC	0.398000													25	95					0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72833324	72833324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr9:72833324C>T	ENST00000377182.4	+	12	2340	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	575	MAM 4.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CAGGCCTCTGCGAGGAGTCTC	0.478000													16	58					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1102479	1102479	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr11:1102479C>T	ENST00000441003.2	+	45	7890	c.7863C>T	c.(7861-7863)ccC>ccT	p.P2621P		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4983						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGAGGCCCCCGGGGAGTGCT	0.602000													3	13					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292726	102292726	+	RNA	SNP	G	G	A	rs150565409	by1000genomes	TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr15:102292726G>A	ENST00000561463.1	+	0	772																											TGGGAACAAGGAGACACTCCT	0.582000													4	33					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99042266	99042266	+	Silent	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr12:99042266A>G	ENST00000357310.1	+	2	706	c.129A>G	c.(127-129)gtA>gtG	p.V43V	APAF1_ENST00000550527.1_Silent_p.V43V|APAF1_ENST00000549007.1_Silent_p.V43V|APAF1_ENST00000547045.1_Silent_p.V43V|APAF1_ENST00000552268.1_Silent_p.V43V|APAF1_ENST00000359972.2_Silent_p.V43V|APAF1_ENST00000551964.1_Silent_p.V43V|APAF1_ENST00000333991.1_Silent_p.V43V|APAF1_ENST00000339433.3_Silent_p.V43V|APAF1_ENST00000547743.1_Silent_p.V43V	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	43	CARD.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AGGAAAAAGTAAGAAATGAGG	0.348000													4	110					0	0	1	0	0
MAGT1	84061	broad.mit.edu	37	X	77150858	77150858	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chrX:77150858G>A	ENST00000358075.6	-	1	232	c.146C>T	c.(145-147)gCg>gTg	p.A49V	MAGT1_ENST00000373336.3_Missense_Mutation_p.A17V	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	17					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GATGAGCAGCGCCACCACCAT	0.562000													19	50					0	0	1	0	0
RAB33B	83452	broad.mit.edu	37	4	140375394	140375394	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr4:140375394C>T	ENST00000305626.5	+	1	434	c.45C>T	c.(43-45)tcC>tcT	p.S15S	RAB33B_ENST00000507271.1_3'UTR	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	15					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GCTTTTCGTCCAGCGGGGCAG	0.602000													10	36					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380501	114380501	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr1:114380501G>A	ENST00000359785.5	-	13	1656	c.1521C>T	c.(1519-1521)caC>caT	p.H507H	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Silent_p.H263H|PTPN22_ENST00000528414.1_Silent_p.H452H|PTPN22_ENST00000525799.1_Silent_p.H380H|PTPN22_ENST00000420377.2_Silent_p.H507H	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	507					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACGTATTTGGTGTTTAGAGT	0.368000													18	58					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21447849	21447849	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr18:21447849C>T	ENST00000313654.9	+	37	4976	c.4735C>T	c.(4735-4737)Cgg>Tgg	p.R1579W	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1579W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1579	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGGCCAGACCGGCTGCATCA	0.453000													31	133					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101740695	101740695	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr7:101740695G>A	ENST00000360264.3	+	5	373	c.353G>A	c.(352-354)cGc>cAc	p.R118H	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.R107H|CUX1_ENST00000549414.2_Missense_Mutation_p.R107H|CUX1_ENST00000292535.7_Missense_Mutation_p.R107H|CUX1_ENST00000547394.2_Missense_Mutation_p.R102H|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R107H|CUX1_ENST00000292538.4_Missense_Mutation_p.R118H|CUX1_ENST00000550008.2_Missense_Mutation_p.R107H|CUX1_ENST00000393824.3_Missense_Mutation_p.R81H|CUX1_ENST00000437600.4_Missense_Mutation_p.R118H	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	107					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAAGTGCAGCGCCTGCACGAT	0.483000													4	106					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84560117	84560117	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr15:84560117C>T	ENST00000286744.5	+	12	1472	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	ADAMTSL3_ENST00000567476.1_Silent_p.F416F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	416						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATGACCACTTCCAACCTCTTC	0.328000													16	74					0	0	1	0	0
NIPA2	81614	broad.mit.edu	37	15	23006742	23006742	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr15:23006742T>C	ENST00000337451.3	-	8	1174	c.562A>G	c.(562-564)Atc>Gtc	p.I188V	NIPA2_ENST00000398014.2_Missense_Mutation_p.I188V|NIPA2_ENST00000398013.3_Missense_Mutation_p.I188V|NIPA2_ENST00000539711.2_Missense_Mutation_p.I169V|NIPA2_ENST00000359727.4_Missense_Mutation_p.I169V	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	188						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		AACGCGCCGATTACAGAGCAG	0.512000													20	90					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	420835	420835	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr11:420835G>C	ENST00000332826.6	-	18	1600	c.1516C>G	c.(1516-1518)Ctg>Gtg	p.L506V		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	506						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GAGGCCCGCAGAGAGCGGCAC	0.731000													7	19					0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53852082	53852082	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr3:53852082G>A	ENST00000315251.6	-	9	1944	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase						alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GCTTTTGCCCGCACAAAGGCA	0.582000													4	163					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25665795	25665795	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr3:25665795T>C	ENST00000435706.2	-	20	2674	c.2473A>G	c.(2473-2475)Atg>Gtg	p.M825V	TOP2B_ENST00000264331.4_Missense_Mutation_p.M830V			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	830					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TACCTTAACATTGTGAAAATA	0.373000													5	108					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133372192	133372192	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr3:133372192C>T	ENST00000260810.5	-	7	1050	c.919G>A	c.(919-921)Gat>Aat	p.D307N	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	307					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GACTCACTATCAATTGTGTTG	0.348000								Other conserved DNA damage response genes					8	31					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143427114	143427114	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr8:143427114G>A	ENST00000524325.1	-	3	403	c.228C>T	c.(226-228)gcC>gcT	p.A76A	TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Silent_p.A76A|TSNARE1_ENST00000307180.3_Silent_p.A76A			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	76					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCGCTTCCTGGCCCTTGGGA	0.652000													10	29					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112414	18112414	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr2:18112414T>C	ENST00000403915.1	+	3	590	c.139T>C	c.(139-141)Tgc>Cgc	p.C47R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.C47R	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	47					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTGCTTACTTGCCATTCTGA	0.493000													5	119					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45535844	45535844	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr19:45535844C>T	ENST00000221452.8	+	9	1194	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	RELB_ENST00000540120.1_Silent_p.F348F|RELB_ENST00000505236.1_Silent_p.F345F	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	348	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GGGCTGACTTCTCCCAGGCCG	0.597000													7	14					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323429	29323429	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr6:29323429G>A	ENST00000377154.1	-	4	843	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	OR5V1_ENST00000543825.1_Missense_Mutation_p.P182S			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCAAAGGGGGGATGTCACAG	0.468000													23	94					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844570	123844570	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr10:123844570C>T	ENST00000369005.1	+	4	2895	c.2555C>T	c.(2554-2556)cCt>cTt	p.P852L	TACC2_ENST00000515603.1_Missense_Mutation_p.P852L|TACC2_ENST00000334433.3_Missense_Mutation_p.P852L|TACC2_ENST00000515273.1_Missense_Mutation_p.P852L|TACC2_ENST00000453444.2_Missense_Mutation_p.P852L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	852						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCCAGCCACCTGAAAATGGG	0.517000													36	116					0	0	1	0	0
FBXW9	84261	broad.mit.edu	37	19	12800096	12800096	+	Silent	SNP	A	A	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr19:12800096A>T	ENST00000380339.3	-	10	1437	c.1401T>A	c.(1399-1401)gcT>gcA	p.A467A	FBXW9_ENST00000393261.3_Silent_p.A437A|FBXW9_ENST00000544494.1_Silent_p.A175A|FBXW9_ENST00000587955.1_Silent_p.A457A			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	467							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GGTTGCCCTCAGCACAGACCT	0.652000													8	33					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16337127	16337127	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr21:16337127C>T	ENST00000400202.1	-	3	4099	c.3387G>A	c.(3385-3387)atG>atA	p.M1129I	NRIP1_ENST00000400199.1_Missense_Mutation_p.M1129I|NRIP1_ENST00000318948.4_Missense_Mutation_p.M1129I			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1129	Repression domain 4.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CATTATTTCCCATATGGCTAT	0.408000													46	65					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187078792	187078792	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr4:187078792C>T	ENST00000356371.5	+	8	1521	c.1521C>T	c.(1519-1521)caC>caT	p.H507H	FAM149A_ENST00000514153.1_Silent_p.H216H|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000227065.4_Silent_p.H216H|FAM149A_ENST00000502970.1_Silent_p.H216H|FAM149A_ENST00000389354.5_Silent_p.H216H|FAM149A_ENST00000503432.1_Silent_p.H216H			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	507										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CACACGCTCACGCCGATGGAG	0.562000													17	61					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119077193	119077193	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chrX:119077193G>A	ENST00000371410.3	-	1	542	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	126					negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TTCTGCCGCAGGCTCTCCTCC	0.572000													44	89					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784414	32784414	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr9:32784414G>A	ENST00000342743.5	+	2	598	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	78						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTGTGGGTCCGCAAATTGCCC	0.597000													4	156					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117665320	117665320	+	Missense_Mutation	SNP	G	G	A	rs77074921		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr12:117665320G>A	ENST00000317775.6	-	23	4217	c.3532C>T	c.(3532-3534)Cgc>Tgc	p.R1178C	NOS1_ENST00000338101.4_Missense_Mutation_p.R1212C|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1178	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GAATAGTAGCGGGGCTGCAGC	0.612000													21	59					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301916	140301916	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr7:140301916C>T	ENST00000275884.6	-	2	699	c.282G>A	c.(280-282)gaG>gaA	p.E94E	DENND2A_ENST00000496613.1_Silent_p.E94E|DENND2A_ENST00000492720.1_Silent_p.E94E|DENND2A_ENST00000537639.1_Silent_p.E94E			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	94										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CATTCTTAGCCTCTGTGACCT	0.577000													72	156					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89624275	89624275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr10:89624275C>T	ENST00000371953.3	+	1	1406	c.49C>T	c.(49-51)Caa>Taa	p.Q17*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	17	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.Q17*(5)|p.Q17del(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.Y16fs*21(1)|p.N12fs*6(1)|p.R14_D22del(1)|p.Y16fs*1(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGGAGATATCAAGAGGATGG	0.478000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			26	86					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627187	43627187	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr9:43627187C>T	ENST00000332857.6	-	4	1528	c.1500G>A	c.(1498-1500)caG>caA	p.Q500Q		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.Q500Q(1)									GGAAAGAAGACTGAAGATGGG	0.547000													5	340					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245829	59245829	+	Silent	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr11:59245829T>C	ENST00000530162.1	+	1	984	c.927T>C	c.(925-927)gaT>gaC	p.D309D		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D309E(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCCTTCTGATAGAAAATAGA	0.368000													13	34					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173934254	173934254	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr1:173934254G>A	ENST00000367696.2	-	10	1690	c.1339C>T	c.(1339-1341)Cgt>Tgt	p.R447C	RC3H1_ENST00000367694.2_Missense_Mutation_p.R447C|RC3H1_ENST00000258349.4_Missense_Mutation_p.R447C			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	447					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TTCATTTTACGAAATCTATAT	0.368000													12	42					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44112896	44112896	+	Missense_Mutation	SNP	G	G	A	rs146318307	byFrequency	TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr7:44112896G>A	ENST00000395831.3	-	9	1338	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M	POLM_ENST00000335195.6_Silent_p.N456N|POLM_ENST00000242248.5_Silent_p.N493N	NM_001284330.1	NP_001271259.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	0					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						AGGCTCAGGCGTTTCTCTGCT	0.562000								DNA polymerases (catalytic subunits)					4	57					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97082694	97082694	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr9:97082694C>T	ENST00000335456.7	-	6	1139	c.1119G>A	c.(1117-1119)gaG>gaA	p.E373E	NUTM2F_ENST00000253262.4_Silent_p.E388E|NUTM2F_ENST00000341207.4_Silent_p.E373E					NUT family member 2F																		GGGGGATCTCCTCAGGGACCT	0.667000													107	104					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141776022	141776022	+	Silent	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr7:141776022A>G	ENST00000475668.2	+	46	5349	c.5295A>G	c.(5293-5295)gtA>gtG	p.V1765V	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1765	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAAGAAAGTATATCTTTTAT	0.418000													22	92					0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147106395	147106395	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chrX:147106395G>A	ENST00000370467.3	+	5	717	c.643G>A	c.(643-645)Gat>Aat	p.D215N		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	215						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CGAACCGGCCGATGATTTACA	0.388000													46	86					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44929589	44929589	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chrX:44929589C>T	ENST00000377967.4	+	17	2730	c.2689C>T	c.(2689-2691)Ctg>Ttg	p.L897L	KDM6A_ENST00000543216.1_Silent_p.L818L|KDM6A_ENST00000382899.4_Silent_p.L904L|KDM6A_ENST00000536777.1_Silent_p.L852L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	897					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGCAGAAGTTCTGAAGGCATG	0.433000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								15	36					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917576	144917576	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr1:144917576G>A	ENST00000529945.1	-	8	2456	c.2017C>T	c.(2017-2019)Cgt>Tgt	p.R673C	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R510C|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R510C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R576C|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R673C|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R510C|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R647C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R647C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R510C|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R297C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	510					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACAGCAAGACGAAGCTGGCGC	0.443000			T	PDGFRB	MPD								26	244					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36593977	36593977	+	Splice_Site	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr19:36593977G>A	ENST00000401500.2	+	28	3497		c.e28+1		WDR62_ENST00000270301.7_Splice_Site	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62						cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGGACCCACGTGAGTATTGG	0.642000													10	45					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151260368	151260368	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr1:151260368G>A	ENST00000368879.2	+	2	1699	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACCGGCTACCGCTGCCTGGAG	0.617000													15	57					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158812190	158812190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr1:158812190C>T	ENST00000368141.4	+	2	508	c.247C>T	c.(247-249)Cga>Tga	p.R83*	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	83	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TAACAATCTTCGAAAAGAGAA	0.408000													4	121					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121481250	121481250	+	Splice_Site	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr6:121481250C>G	ENST00000275159.6	-	25	2802		c.e25-1		TBC1D32_ENST00000398212.2_Splice_Site|TBC1D32_ENST00000398197.2_Splice_Site					TBC1 domain family, member 32																		GATTATCACTCTAAAAAAGAA	0.318000													13	38					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262123	140262123	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr5:140262123C>T	ENST00000289272.2	+	1	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.I90I|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.592000													76	277					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62844970	62844970	+	Missense_Mutation	SNP	A	A	C	rs35509508		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr20:62844970A>C	ENST00000536311.1	+	10	1965	c.1601A>C	c.(1600-1602)aAg>aCg	p.K534T	MYT1_ENST00000328439.1_Missense_Mutation_p.K534T|MYT1_ENST00000360149.4_Missense_Mutation_p.K236T			Q01538	MYT1_HUMAN	myelin transcription factor 1	534					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GATCCTTCCAAGAGTAGCTCC	0.542000													5	46					0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	18995036	18995036	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr19:18995036G>A	ENST00000427170.2	-	3	521	c.450C>T	c.(448-450)gcC>gcT	p.A150A	GDF1_ENST00000247005.6_5'UTR|CERS1_ENST00000542296.2_Silent_p.A52A|CERS1_ENST00000429504.2_Silent_p.A150A	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	150	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						GCAGGTAGGCGGCTGCAATGT	0.612000													13	34					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112675	59112675	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr14:59112675C>T	ENST00000395153.3	+	4	1370	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	DACT1_ENST00000335867.4_Missense_Mutation_p.S445F|DACT1_ENST00000541264.2_Missense_Mutation_p.S164F|DACT1_ENST00000556859.1_Missense_Mutation_p.S164F	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	445					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGCGCTGCCTCCGACCTTCAG	0.597000													27	108					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899926	151899926	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chrX:151899926T>C	ENST00000393900.3	-	3	1228	c.875A>G	c.(874-876)aAg>aGg	p.K292R	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.K292R|MAGEA12_ENST00000357916.4_Missense_Mutation_p.K292R	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	292	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTGATCTTTAGCAAATG	0.562000													79	318					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2115849	2115849	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr9:2115849C>T	ENST00000382203.1	+	25	3693	c.3484C>T	c.(3484-3486)Cgc>Tgc	p.R1162C	SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1162C|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1162C|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1162C			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1162	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.R1158C(1)|p.R1162C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCGAGCTCACCGCATCGGGCA	0.582000													14	31					0	0	1	0	0
EIF5	1983	broad.mit.edu	37	14	103802407	103802407	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr14:103802407T>C	ENST00000216554.3	+	4	783	c.107T>C	c.(106-108)aTa>aCa	p.I36T	EIF5_ENST00000392715.2_Missense_Mutation_p.I36T|EIF5_ENST00000560200.1_Intron|EIF5_ENST00000558506.1_Missense_Mutation_p.I36T	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	36					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AAGACAGTTATAGTCAACATG	0.398000													26	45					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113773141	113773141	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr13:113773141C>A	ENST00000375581.3	+	9	1255	c.1220C>A	c.(1219-1221)cCa>cAa	p.P407Q	F7_ENST00000541084.1_Missense_Mutation_p.P338Q|F7_ENST00000346342.3_Missense_Mutation_p.P385Q	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	407	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AGTGGAGGCCCACATGCCACC	0.632000													13	30					1.5842e-08	1.70993e-08	1	1	0
RABGGTA	5875	broad.mit.edu	37	14	24737134	24737134	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr14:24737134C>T	ENST00000399409.3	-	12	1661	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q	RABGGTA_ENST00000560777.1_Missense_Mutation_p.R2Q|RABGGTA_ENST00000216840.6_Missense_Mutation_p.R393Q	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	393					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GTCCAGTGCCCGCATCAGCAG	0.592000													24	31					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997122	144997122	+	Silent	SNP	G	G	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr8:144997122G>C	ENST00000322810.4	-	31	7555	c.7386C>G	c.(7384-7386)ctC>ctG	p.L2462L	PLEC_ENST00000354958.2_Silent_p.L2303L|PLEC_ENST00000357649.2_Silent_p.L2329L|PLEC_ENST00000398774.2_Silent_p.L2293L|PLEC_ENST00000527096.1_Silent_p.L2348L|PLEC_ENST00000345136.3_Silent_p.L2325L|PLEC_ENST00000354589.3_Silent_p.L2325L|PLEC_ENST00000436759.2_Silent_p.L2352L|PLEC_ENST00000356346.3_Silent_p.L2311L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2462	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCAGCCTTGAGTCGCGTGG	0.667000													3	13					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52775663	52775663	+	Splice_Site	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr20:52775663C>T	ENST00000216862.3	-	8	1384		c.e8-1		CYP24A1_ENST00000395954.3_Splice_Site|CYP24A1_ENST00000395955.3_Splice_Site	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1						hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGTTTGCTGTCTGCAAGCCAA	0.368000													11	49					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303689	5303689	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr5:5303689C>G	ENST00000274181.7	+	20	3134	c.2996C>G	c.(2995-2997)tCa>tGa	p.S999*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	999	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTGCAGTGCTCACACACCTGT	0.637000													14	62					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67682819	67682819	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr16:67682819G>A	ENST00000334583.6	+	17	1861	c.1533G>A	c.(1531-1533)gtG>gtA	p.V511V	RLTPR_ENST00000545661.1_Silent_p.V475V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	511										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCGCCCAGGTGATACAAGACT	0.662000													6	17					0	0	1	0	0
AKR1C2	1646	broad.mit.edu	37	10	5037998	5037998	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr10:5037998G>A	ENST00000380753.4	-	6	817	c.630C>T	c.(628-630)gaC>gaT	p.D210D	RP11-499O7.7_ENST00000451575.2_RNA|AKR1C2_ENST00000407674.1_Silent_p.D210D|AKR1C2_ENST00000421196.3_Silent_p.D184D	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	210					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	CCAGAACAATGTCTTTTGACT	0.398000													10	47					0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833708	37833708	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr21:37833708C>T	ENST00000399137.1	-	3	1152	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.A96T|CLDN14_ENST00000399135.1_Missense_Mutation_p.A96T|CLDN14_ENST00000342108.2_Missense_Mutation_p.A96T|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Missense_Mutation_p.A96T	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	96					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						ACGGCGCAGGCGCAGGCTATG	0.677000													6	94					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													3	50					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56885582	56885582	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr4:56885582G>T	ENST00000257287.4	+	23	3200	c.3076G>T	c.(3076-3078)Gag>Tag	p.E1026*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1026					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ACTTTCAAATGAGAGACATAC	0.348000													5	32					0.000602214	0.000630009	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76587220	76587220	+	Silent	SNP	G	G	T	rs144247939	by1000genomes	TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr16:76587220G>T	ENST00000307431.8	+	23	3865	c.3480G>T	c.(3478-3480)gcG>gcT	p.A1160A	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.A1088A|CNTNAP4_ENST00000476707.1_Silent_p.A1164A|CNTNAP4_ENST00000377504.4_Silent_p.A1112A	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1161	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGCAGGTGCGCAGGGCTTCA	0.532000													6	14					0.00116845	0.00121304	1	1	0
PDE11A	50940	broad.mit.edu	37	2	178936980	178936980	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr2:178936980G>A	ENST00000286063.6	-	1	502	c.185C>T	c.(184-186)gCt>gTt	p.A62V	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GGTGCTGTGAGCCAAGCTGCT	0.627000									Primary Pigmented Nodular Adrenocortical Disease, Familial				4	28					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455522	187455522	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr4:187455522C>A	ENST00000307161.5	-	2	575	c.374G>T	c.(373-375)cGc>cTc	p.R125L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	125					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GTAGCAGTAGCGGTTGATGGC	0.567000													16	49					0.00316338	0.00325924	1	1	0
RPL3L	6123	broad.mit.edu	37	16	2004138	2004138	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr16:2004138C>G	ENST00000268661.7	-	2	109	c.15G>C	c.(13-15)aaG>aaC	p.K5N		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	5					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GGGCGGAAAACTTCCGGTGGG	0.652000													3	12					0	0	1	0	0
ZSCAN9	7746	broad.mit.edu	37	6	28195601	28195601	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr6:28195601C>T	ENST00000527436.1	+	3	655	c.554C>T	c.(553-555)tCt>tTt	p.S185F	ZSCAN9_ENST00000531981.1_3'UTR|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.S185F|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.S185F|ZSCAN9_ENST00000252207.5_Missense_Mutation_p.S185F					zinc finger and SCAN domain containing 9																		AAGTGCCATTCTATTGGAGAG	0.483000													11	23					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28737511	28737511	+	Silent	SNP	C	C	G	rs147816863		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr18:28737511C>G	ENST00000257197.3	-	3	435	c.174G>C	c.(172-174)tcG>tcC	p.S58S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.S58S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	58					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTAGGCTGGCCGACTTGAGAC	0.448000													12	75					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292723	102292723	+	RNA	SNP	A	A	C	rs143622092	by1000genomes	TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr15:102292723A>C	ENST00000561463.1	+	0	769																											GCGTGGGAACAAGGAGACACT	0.587000													3	34					0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123022477	123022477	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chrX:123022477G>A	ENST00000371199.3	+	3	1185	c.886G>A	c.(886-888)Gat>Aat	p.D296N	XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Missense_Mutation_p.D296N|XIAP_ENST00000355640.3_Missense_Mutation_p.D296N	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	296					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AGGTGAAGGTGATAAAGTAAA	0.368000									X-linked Lymphoproliferative syndrome				20	92					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161596010	161596010	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr1:161596010C>T	ENST00000294800.3	-	4	775	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	FCGR3B_ENST00000367964.2_Missense_Mutation_p.G168S|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.G204S	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	168	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAGTAGGAGCCGCTATCTTTG	0.443000													13	82					0	0	1	0	0
MCUR1	63933	broad.mit.edu	37	6	13799101	13799101	+	Silent	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr6:13799101T>C	ENST00000379170.4	-	6	957	c.819A>G	c.(817-819)ttA>ttG	p.L273L		NM_001031713.3	NP_001026883.1			mitochondrial calcium uniporter regulator 1																		GGTTGAAGTCTAATTTGGTAT	0.338000													7	16					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44928992	44928992	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chrX:44928992C>T	ENST00000377967.4	+	17	2133	c.2092C>T	c.(2092-2094)Cac>Tac	p.H698Y	KDM6A_ENST00000543216.1_Missense_Mutation_p.H619Y|KDM6A_ENST00000382899.4_Missense_Mutation_p.H705Y|KDM6A_ENST00000536777.1_Missense_Mutation_p.H653Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	698					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGCTCTCAATCACCTCTCCTC	0.517000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								17	25					0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95561032	95561032	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr11:95561032A>G	ENST00000325542.5	+	9	1206	c.968A>G	c.(967-969)aAt>aGt	p.N323S	CEP57_ENST00000537677.1_Missense_Mutation_p.N296S|CEP57_ENST00000325486.5_Missense_Mutation_p.N297S|CEP57_ENST00000541150.1_Missense_Mutation_p.N314S	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	323	Mediates interaction with microtubules (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTTTGTGCAATGATCGAGTC	0.433000									Mosaic Variegated Aneuploidy Syndrome				22	74					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44929551	44929551	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chrX:44929551C>G	ENST00000377967.4	+	17	2692	c.2651C>G	c.(2650-2652)tCa>tGa	p.S884*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.S805*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.S891*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.S839*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	884					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATCATACCATCAATGTCTGTG	0.433000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								19	38					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242586	3242586	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chrX:3242586C>G	ENST00000217939.6	-	5	1294	c.1140G>C	c.(1138-1140)ttG>ttC	p.L380F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	380						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTATGCTATCAATTTCCATA	0.458000													25	32					0	0	1	0	0
UBA5	79876	broad.mit.edu	37	3	132394703	132394703	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr3:132394703A>T	ENST00000356232.4	+	11	2139	c.1067A>T	c.(1066-1068)aAt>aTt	p.N356I	UBA5_ENST00000494238.2_Missense_Mutation_p.N300I|UBA5_ENST00000473651.1_Intron|UBA5_ENST00000493720.2_Missense_Mutation_p.N356I|UBA5_ENST00000264991.4_Missense_Mutation_p.N300I	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	356					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GAACTGAAAAATTTTTCAGGT	0.313000													6	19					0	0	1	0	0
TTR	7276	broad.mit.edu	37	18	29178548	29178548	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr18:29178548C>T	ENST00000237014.3	+	4	531	c.354C>T	c.(352-354)aaC>aaT	p.N118N		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	118					transport	cytoplasm	hormone activity			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	TCACAGCCAACGACTCCGGCC	0.562000													17	55					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666499	34666499	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr1:34666499T>A	ENST00000488417.1	+	3	1256	c.1136T>A	c.(1135-1137)cTg>cAg	p.L379Q	C1orf94_ENST00000373374.3_Missense_Mutation_p.L189Q	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	189							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ACCGCATCACTGACCCTGCCG	0.592000													22	74					0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2353075	2353075	+	RNA	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr19:2353075G>T	ENST00000452401.2	+	0	1787				LLfos-48D6.1_ENST00000609490.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGAGCAGTCCCCAAAAT	0.701000													3	33					0.115264	0.115264	1	1	0
SLC2A4RG	56731	broad.mit.edu	37	20	62374261	62374261	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr20:62374261G>A	ENST00000266077.2	+	8	1134	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	361						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AAGAAGTGCCGGAAGGTGTAT	0.662000													3	32					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27254014	27254014	+	Silent	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr17:27254014G>T	ENST00000577226.1	-	3	662	c.316C>A	c.(316-318)Cga>Aga	p.R106R	PHF12_ENST00000268756.3_Silent_p.R106R|RP11-20B24.5_ENST00000580782.1_RNA|RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000332830.4_Silent_p.R106R			Q96QT6	PHF12_HUMAN	PHD finger protein 12	106	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATTACCTTTCGGCGAACAGTG	0.493000													15	73					2.32078e-09	2.52501e-09	1	1	0
PDE3B	5140	broad.mit.edu	37	11	14808014	14808014	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr11:14808014C>T	ENST00000282096.4	+	3	1414	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L	PDE3B_ENST00000455098.2_Missense_Mutation_p.S354L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	354					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTTGATCTTTCAGTGCTAAAT	0.363000													14	60					0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124794018	124794018	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr10:124794018G>T	ENST00000358776.4	+	2	203	c.189G>T	c.(187-189)atG>atT	p.M63I	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_5'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	63					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	AGGAAATGATGATAAAGAGTT	0.418000													5	46					0.014758	0.0150909	1	1	0
FAT4	79633	broad.mit.edu	37	4	126367500	126367500	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr4:126367500C>A	ENST00000394329.3	+	8	7259	c.7246C>A	c.(7246-7248)Caa>Aaa	p.Q2416K	FAT4_ENST00000335110.5_Missense_Mutation_p.Q714K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2416	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCGACAGGACAAATCATCAC	0.418000													25	78					1.10923e-09	1.21658e-09	1	1	0
PLD3	23646	broad.mit.edu	37	19	40880474	40880474	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr19:40880474C>T	ENST00000409587.1	+	10	1363	c.966C>T	c.(964-966)atC>atT	p.I322I	PLD3_ENST00000409281.1_Silent_p.I322I|PLD3_ENST00000409735.4_Silent_p.I322I|PLD3_ENST00000409419.1_Silent_p.I322I|PLD3_ENST00000356508.5_Silent_p.I322I			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	322					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGAGTTTCATCTACGTCGCTG	0.612000													35	164					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611293	17611293	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr8:17611293G>T	ENST00000381869.3	-	2	2497	c.2024C>A	c.(2023-2025)tCt>tAt	p.S675Y	MTUS1_ENST00000519263.1_Missense_Mutation_p.S675Y|MTUS1_ENST00000262102.6_Missense_Mutation_p.S675Y|MTUS1_ENST00000381862.3_Missense_Mutation_p.S675Y	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	675						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTTTTCCATAGATGTCCCATT	0.333000													18	35					8.00594e-06	8.57329e-06	1	1	0
UMOD	7369	broad.mit.edu	37	16	20357601	20357601	+	Silent	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr16:20357601C>T	ENST00000396134.2	-	6	1251	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	UMOD_ENST00000424589.1_Silent_p.S376S|UMOD_ENST00000396142.2_Silent_p.S343S|UMOD_ENST00000570689.1_Silent_p.S343S|UMOD_ENST00000302509.4_Silent_p.S343S|UMOD_ENST00000396138.4_Silent_p.S392S	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	343	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACTTGCCCAGCGACACCTTCA	0.547000													22	73					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119559911	119559911	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr12:119559911G>A	ENST00000267260.4	+	6	889	c.501G>A	c.(499-501)aaG>aaA	p.K167K		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	167	Lys-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAGATGAGAAGAGGCACAAGA	0.378000													15	56					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48033979	48033979	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr2:48033979A>G	ENST00000234420.5	+	10	4215	c.4063A>G	c.(4063-4065)Act>Gct	p.T1355A	MSH6_ENST00000538136.1_Missense_Mutation_p.T1053A|MSH6_ENST00000540021.1_Missense_Mutation_p.T1225A|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAATTGCTGACTTTGATTAA	0.308000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				20	37					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66457341	66457341	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr11:66457341G>A	ENST00000533211.1	-	29	6215	c.5884C>T	c.(5884-5886)Cgc>Tgc	p.R1962C	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1962C|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1962C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1962					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GAGGAGAAGCGGTCTGCCCGG	0.627000													4	109					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87865442	87865442	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr6:87865442G>T	ENST00000369577.3	+	1	176	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.E45*|ZNF292_ENST00000392985.3_Nonsense_Mutation_p.E45*|ZNF292_ENST00000369578.2_3'UTR	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACCGGCCGTGGAAGCGGCCAC	0.721000													9	8					0.0581538	0.0590217	1	1	0
FKBP10	60681	broad.mit.edu	37	17	39974485	39974485	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr17:39974485A>G	ENST00000321562.4	+	3	640	c.536A>G	c.(535-537)tAc>tGc	p.Y179C		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	179	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TTTGTCCGCTACCACTACAAT	0.657000													4	108					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	136023144	136023144	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr2:136023144T>A	ENST00000401392.1	-	12	1711	c.1499A>T	c.(1498-1500)gAc>gTc	p.D500V	ZRANB3_ENST00000264159.6_Missense_Mutation_p.D500V|ZRANB3_ENST00000536680.1_Missense_Mutation_p.D500V			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	500						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTCAGAACTGTCATTTGGAGT	0.383000													13	20					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11147898	11147898	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr1:11147898C>T	ENST00000544779.1	-	8	909	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	EXOSC10_ENST00000376936.4_Missense_Mutation_p.E302K|EXOSC10_ENST00000304457.7_Missense_Mutation_p.E302K			Q01780	EXOSX_HUMAN	exosome component 10	302					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AAGAGCTTTTCGTTGAGTTCC	0.393000													5	101					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720821	146720821	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr6:146720821G>A	ENST00000392299.2	+	8	3116	c.2646G>A	c.(2644-2646)ggG>ggA	p.G882G	GRM1_ENST00000282753.1_Silent_p.G882G|GRM1_ENST00000507907.1_Silent_p.G882G|GRM1_ENST00000361719.2_Silent_p.G882G|GRM1_ENST00000492807.2_Silent_p.G882G|GRM1_ENST00000355289.4_Silent_p.G882G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	882					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGAAGGCAGGGGCAGGGAATG	0.502000													4	15					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421835	115421835	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr9:115421835G>A	ENST00000337530.6	+	4	1933	c.1637G>A	c.(1636-1638)tGt>tAt	p.C546Y	KIAA1958_ENST00000536272.1_Missense_Mutation_p.C574Y	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	546										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGGCAGGGTGTCTGGGGGAT	0.577000													6	31					0	0	1	0	0
IGF1	3479	broad.mit.edu	37	12	102811727	102811727	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr12:102811727G>T	ENST00000307046.8	-	4	638	c.457C>A	c.(457-459)Cca>Aca	p.P153T	IGF1_ENST00000456098.1_Intron|IGF1_ENST00000337514.6_Intron|IGF1_ENST00000392904.1_Intron|IGF1_ENST00000424202.2_Intron	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	153					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						TGTGTCTTTGGCCAACCTTTC	0.458000													25	235					8.24728e-16	9.19369e-16	1	1	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													4	88					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581476	140581476	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr5:140581476C>T	ENST00000354757.3	+	1	2129	c.2129C>T	c.(2128-2130)gCg>gTg	p.A710V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A345V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		710					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTGGCGGTGCGGCTG	0.687000													77	210					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69173521	69173521	+	Silent	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr2:69173521G>A	ENST00000481498.1	-	5	405	c.387C>T	c.(385-387)gaC>gaT	p.D129D	GKN2_ENST00000328895.4_Silent_p.D129D			Q86XP6	GKN2_HUMAN	gastrokine 2	129	BRICHOS.					extracellular region		p.D129E(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						ACCAATCCACGTCTTTGATCA	0.448000													78	129					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296080	233296080	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr1:233296080T>C	ENST00000258229.9	-	19	3700	c.3466A>G	c.(3466-3468)Att>Gtt	p.I1156V	PCNXL2_ENST00000488780.2_Missense_Mutation_p.I289V|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGTGTGAAATCCACATCCAG	0.453000													5	35					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231149118	231149118	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr2:231149118A>T	ENST00000392045.3	+	16	1670	c.1556A>T	c.(1555-1557)cAa>cTa	p.Q519L	SP140_ENST00000486687.2_Missense_Mutation_p.Q443L|SP140_ENST00000350136.5_Missense_Mutation_p.Q388L|SP140_ENST00000417495.3_Missense_Mutation_p.Q405L|SP140_ENST00000420434.3_Missense_Mutation_p.Q492L|SP140_ENST00000343805.6_Missense_Mutation_p.Q459L	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	519					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAAACAGCCAACAAAATGGT	0.428000													6	23					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994827	143994827	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr8:143994827C>T	ENST00000323110.2	-	6	997	c.995G>A	c.(994-996)cGg>cAg	p.R332Q		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	332					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GTCGGGGTTCCGAGCCAGCTC	0.627000									Familial Hyperaldosteronism type I				58	132					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	T	rs121913416		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr3:41266113C>T	ENST00000349496.5	+	3	390	c.110C>T	c.(109-111)tCt>tTt	p.S37F	CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498000	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				15	31					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17786443	17786443	+	Silent	SNP	A	A	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr9:17786443A>G	ENST00000380607.4	+	4	372	c.252A>G	c.(250-252)ccA>ccG	p.P84P	SH3GL2_ENST00000537391.1_Silent_p.P37P	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	84	BAR.|Binds and tubulates liposomes (By similarity).|Required for dimerization upon membrane association (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGAAGGGGCCAGGCTATCCTC	0.507000													17	93					0	0	1	0	0
SDCBP	6386	broad.mit.edu	37	8	59492193	59492193	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr8:59492193G>A	ENST00000523483.1	+	8	2164	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	SDCBP_ENST00000422546.2_Missense_Mutation_p.R196Q|SDCBP_ENST00000413219.2_Missense_Mutation_p.R197Q|SDCBP_ENST00000447182.2_Missense_Mutation_p.R196Q|SDCBP_ENST00000447267.2_Missense_Mutation_p.R143Q|SDCBP_ENST00000424270.2_Missense_Mutation_p.R191Q|SDCBP_ENST00000260130.4_Missense_Mutation_p.R197Q|SDCBP_ENST00000520168.1_Missense_Mutation_p.R138Q			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	197	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCCTTTGAACGGACGATTACC	0.323000													8	61					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15803921	15803921	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr12:15803921G>A	ENST00000281172.5	-	14	1706	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*	EPS8_ENST00000542903.1_Nonsense_Mutation_p.Q164*|EPS8_ENST00000543612.1_Nonsense_Mutation_p.Q424*|EPS8_ENST00000543523.1_Nonsense_Mutation_p.Q424*|EPS8_ENST00000540613.1_Nonsense_Mutation_p.Q164*	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	424	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GGAATAAACTGTTCTTTTGGC	0.443000													29	54					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44928929	44928929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chrX:44928929C>T	ENST00000377967.4	+	17	2070	c.2029C>T	c.(2029-2031)Cag>Tag	p.Q677*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q598*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q684*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q632*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	677					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.Q677*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTCTGGTATTCAGAATCAGAA	0.537000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								20	27					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157406137	157406137	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr2:157406137C>T	ENST00000310454.6	+	7	1051	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	GPD2_ENST00000540309.1_Missense_Mutation_p.R227W|GPD2_ENST00000409125.4_5'UTR|GPD2_ENST00000409674.1_Missense_Mutation_p.R227W|GPD2_ENST00000438166.2_Missense_Mutation_p.R227W	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	227					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TAACGATGCACGGATGAACCT	0.542000													19	129					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116930501	116930501	+	Silent	SNP	G	G	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr9:116930501G>T	ENST00000356083.3	+	3	1057	c.666G>T	c.(664-666)acG>acT	p.T222T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	222	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACCCTGTGACGCAGGTCGCTC	0.567000													23	115					4.26978e-12	4.72105e-12	1	1	0
GPR174	84636	broad.mit.edu	37	X	78427378	78427378	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chrX:78427378T>C	ENST00000276077.1	+	1	910	c.874T>C	c.(874-876)Tac>Cac	p.Y292H		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	292						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CCCAGTCATATACTACTTTTC	0.403000										HNSCC(63;0.18)			17	85					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													4	127					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235943646	235943646	+	Translation_Start_Site	SNP	G	G	A			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr2:235943646G>A	ENST00000409212.1	+	0	507				SH3BP4_ENST00000344528.4_De_novo_Start_InFrame|SH3BP4_ENST00000392011.2_De_novo_Start_InFrame			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4						endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CGAGTTTCGAGATGGCGGCTC	0.567000													11	47					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95734679	95734679	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr5:95734679C>G	ENST00000311106.3	-	11	1729	c.1492G>C	c.(1492-1494)Gaa>Caa	p.E498Q	PCSK1_ENST00000508626.1_Missense_Mutation_p.E451Q|PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	498					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATAGCATTTTCTTGTCCTTCA	0.373000													10	18					0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56142751	56142751	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr12:56142751C>T	ENST00000257868.5	+	2	864	c.827C>T	c.(826-828)cCg>cTg	p.P276L		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	276					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.P276L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TCCCTGGGGCCGGGAGCCGAG	0.597000													6	20					0	0	1	0	0
PHOSPHO2	493911	broad.mit.edu	37	2	170557858	170557858	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr2:170557858C>T	ENST00000359744.3	+	4	765	c.377C>T	c.(376-378)gCa>gTa	p.A126V	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	126							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						ACAAATCCAGCAGCTTTTAAT	0.328000													6	43					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101138730	101138730	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chrX:101138730A>C	ENST00000372782.3	-	7	1716	c.1669T>G	c.(1669-1671)Tcc>Gcc	p.S557A	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.S386A|ZMAT1_ENST00000540921.1_Missense_Mutation_p.S557A	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	386						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTATGCTTGGACTGCTCTTTC	0.398000													25	95					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													10	357	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													5	7	---	---	---	---					
ZNF876P	642280	broad.mit.edu	37	4	212236	212236	+	RNA	DEL	A	A	-	rs80061878		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr4:212236delA	ENST00000356347.3	+	0	172					NR_027481.1																						ctaaaaatacaaaaaaaaaaa	0.493													2	4	---	---	---	---					
MYBPC3	4607	broad.mit.edu	37	11	47359101	47359103	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr11:47359101_47359103delTCT	ENST00000545968.1	-	25	2495_2497	c.2441_2443delAGA	c.(2440-2445)aagagc>agc	p.K814del	MYBPC3_ENST00000399249.2_In_Frame_Del_p.K814del|MYBPC3_ENST00000256993.4_In_Frame_Del_p.K813del	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	813	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACCGGTAGCTCTTCTTCTTCTT	0.601													7	80	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49438032	49438033	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr12:49438032_49438033delCC	ENST00000301067.7	-	21	5137_5138	c.5138_5139delGG	c.(5137-5139)gggfs	p.G1713fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTGCAGCAGGCCCCTTTTTCGT	0.619											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	40	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													4	9	---	---	---	---					
ATP5S	27109	broad.mit.edu	37	14	50792377	50792377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr14:50792377delA	ENST00000311459.7	+	5	964	c.584delA	c.(583-585)gaafs	p.E195fs	ATP5S_ENST00000358473.1_Intron|ATP5S_ENST00000245448.6_3'UTR|ATP5S_ENST00000554438.1_3'UTR	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	195					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		AGAGAAAAAGAAAATCTTGTC	0.313													59	109	---	---	---	---					
PSMC6	5706	broad.mit.edu	37	14	53178137	53178138	+	Frame_Shift_Del	DEL	GA	GA	-	rs142500784		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr14:53178137_53178138delGA	ENST00000445930.2	+	6	384_385	c.378_379delGA	c.(376-381)ccgagafs	p.R127fs	PSMC6_ENST00000606149.1_Frame_Shift_Del_p.R113fs			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	113					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of 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 complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GATATTTGCCGAGAGAGGTGGA	0.381													55	137	---	---	---	---					
HS3ST4	9951	broad.mit.edu	37	16	26147495	26147495	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr16:26147495delA	ENST00000331351.5	+	2	1689	c.1297delA	c.(1297-1299)aaafs	p.K433fs	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	433					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAAATTCTACAAACCCTTCAA	0.488													12	23	---	---	---	---					
NOS2	4843	broad.mit.edu	37	17	26100220	26100221	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	33f9bb7d-65a6-4b98-ad5d-061ddd1125b6	g.chr17:26100220_26100221delTT	ENST00000313735.6	-	13	1758_1759	c.1525_1526delAA	c.(1525-1527)aagfs	p.K509fs		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	509	Calmodulin-binding (Potential).				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTCTCTTCTCTTGGGTCTCCGC	0.525													68	368	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27101401	27101402	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr1:27101401_27101402insC	ENST00000324856.7	+	18	5054_5055	c.4683_4684insC	c.(4684-4686)cccfs	p.P1562fs	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.P1179fs|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1562					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.M1564fs*8(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTGCCCCTGTGCCCCCCATGAC	0.609			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								14	64	---	---	---	---					
AC073321.4	0	broad.mit.edu	37	2	217474994	217474994	+	RNA	DEL	T	T	-	rs71401155		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr2:217474994delT	ENST00000441803.1	+	0	195																											tctttctttcttttttttttt	0.393													4	3	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													5	7	---	---	---	---					
ATP5S	27109	broad.mit.edu	37	14	50792377	50792377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr14:50792377delA	ENST00000311459.7	+	5	964	c.584delA	c.(583-585)gaafs	p.E195fs	ATP5S_ENST00000245448.6_3'UTR|ATP5S_ENST00000554438.1_3'UTR|ATP5S_ENST00000358473.1_Intron	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	195					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		AGAGAAAAAGAAAATCTTGTC	0.313													59	109	---	---	---	---					
PSMC6	5706	broad.mit.edu	37	14	53178137	53178138	+	Frame_Shift_Del	DEL	GA	GA	-	rs142500784		TCGA-BL-A5ZZ-01A-31D-A30E-08	TCGA-BL-A5ZZ-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757a95a7-bef9-43ab-8aed-b36306558017	4d196ee0-9566-48c4-adb4-56f83249291b	g.chr14:53178137_53178138delGA	ENST00000445930.2	+	6	384_385	c.378_379delGA	c.(376-381)ccgagafs	p.R127fs	PSMC6_ENST00000606149.1_Frame_Shift_Del_p.R113fs			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	113					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of 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 complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GATATTTGCCGAGAGAGGTGGA	0.381													55	137	---	---	---	---