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
PSMC6	5706	broad.mit.edu	37	14	53190725	53190725	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:53190725C>G	ENST00000445930.2	+	13	1070	c.1064C>G	c.(1063-1065)gCa>gGa	p.A355G	PSMC6_ENST00000606149.1_Missense_Mutation_p.A341G|PSMC6_ENST00000557557.1_3'UTR			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	341					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)					TTTAATGGAGCAGATCTGAGA	0.289000													7	97					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89717615	89717615	+	Nonsense_Mutation	SNP	C	C	T	rs121909227		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:89717615C>T	ENST00000371953.3	+	7	1997	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	214	C2 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.Q214*(10)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Q214fs*1(1)|p.?(1)|p.Q214fs*22(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)		TGCAGATCCTCAGTTTGTGGT	0.388000		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)			72	55					0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43938572	43938572	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr21:43938572G>A	ENST00000352133.2	+	2	990	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	SLC37A1_ENST00000398341.3_Missense_Mutation_p.R3Q			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	3					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TAAATGGCTCGACTCCCCGCT	0.547000													30	80					0	0	1	0	0
CMSS1	84319	broad.mit.edu	37	3	99881159	99881159	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:99881159G>A	ENST00000421999.2	+	4	384	c.238G>A	c.(238-240)Gat>Aat	p.D80N	CMSS1_ENST00000489081.1_Missense_Mutation_p.D62N	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		GAAAATTACTGATGTTCTTGC	0.373000													42	53					0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33762599	33762599	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr20:33762599G>A	ENST00000216968.4	+	2	247	c.165G>A	c.(163-165)acG>acA	p.T55T	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	55					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GACACCTAACGCACGTGCTGG	0.627000													7	110					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901912	51901912	+	Silent	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:51901912C>A	ENST00000268919.4	+	1	1674	c.1518C>A	c.(1516-1518)tcC>tcA	p.S506S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	506					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCCGGGACTCCTTTATAGGCC	0.483000													11	56					0.0135373	0.0137697	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56539147	56539147	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:56539147C>T	ENST00000390649.3	+	7	1548	c.1548C>T	c.(1546-1548)gtC>gtT	p.V516V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	516	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGGCGTGGTCCGGCGCTGTC	0.592000													8	29					0	0	1	0	0
MCEE	84693	broad.mit.edu	37	2	71337220	71337220	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:71337220C>G	ENST00000244217.5	-	3	428	c.411G>C	c.(409-411)ttG>ttC	p.L137F	MCEE_ENST00000462609.2_5'UTR	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	137					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TCTTTTTTTTCAAATCCATCA	0.353000													8	42					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38783971	38783971	+	Silent	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:38783971A>C	ENST00000449082.2	-	13	1916	c.1917T>G	c.(1915-1917)tcT>tcG	p.S639S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	639					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GATACTTCTGAGACAAGCTGG	0.512000													23	178					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196387064	196387064	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:196387064C>T	ENST00000328557.4	+	3	753	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		GGAGCGTCTCCGGGAGCTGGA	0.632000													6	53					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42054514	42054514	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:42054514G>A	ENST00000219905.7	+	22	7879	c.7698G>A	c.(7696-7698)agG>agA	p.R2566R	MGA_ENST00000389936.4_Silent_p.R2527R|MGA_ENST00000570161.1_Silent_p.R2566R|MGA_ENST00000566586.1_Silent_p.R2357R|MGA_ENST00000545763.1_Silent_p.R2357R	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2527						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TAAATAACAGGAGGGGGAAAC	0.403000													15	64					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139750491	139750491	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:139750491G>A	ENST00000445819.1	+	14	1660	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	MAMDC4_ENST00000317446.2_Missense_Mutation_p.R537Q|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	537	MAM 3.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCTCTGCAGCGGGCCTGGGGG	0.632000													18	110					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23344898	23344898	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:23344898G>A	ENST00000359591.4	+	5	1432	c.741G>A	c.(739-741)gtG>gtA	p.V247V	LRP10_ENST00000546834.1_Silent_p.V247V	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	247	CUB 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GAGATGCAGTGCATGTGTATG	0.627000													11	80					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130785020	130785020	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:130785020C>G	ENST00000265909.4	-	1	1384	c.815G>C	c.(814-816)aGa>aCa	p.R272T	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.R272T|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	272	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGCTGGATCTCTGGCCTTGGA	0.547000													20	118					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19093277	19093277	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:19093277G>C	ENST00000380502.3	-	4	795	c.328C>G	c.(328-330)Caa>Gaa	p.Q110E		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	110					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAACAACTTGAGGAAAGCTA	0.313000													11	74					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358024	72358024	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:72358024G>C	ENST00000441259.1	-	3	1613	c.1453C>G	c.(1453-1455)Cag>Gag	p.Q485E	PRF1_ENST00000373209.2_Missense_Mutation_p.Q485E	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	485	C2.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCAGAGTCCTGATCCCAGACC	0.582000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				15	121					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65315511	65315511	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:65315511C>A	ENST00000301873.5	-	12	1994	c.1726G>T	c.(1726-1728)Gat>Tat	p.D576Y	LTBP3_ENST00000322147.4_Missense_Mutation_p.D576Y|LTBP3_ENST00000532932.1_Missense_Mutation_p.D6Y|LTBP3_ENST00000536982.1_Missense_Mutation_p.D202Y	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	576	EGF-like 3.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGGCACTCATCAGTCTCTGCG	0.637000													5	80					3.59834e-05	3.70785e-05	1	1	0
KIAA0100	9703	broad.mit.edu	37	17	26962026	26962026	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:26962026G>A	ENST00000528896.2	-	16	2653	c.2579C>T	c.(2578-2580)tCt>tTt	p.S860F	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.S717F|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S717F	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	860						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGGGCTTGGAGAGGCCCAAGC	0.468000													127	289					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115168392	115168392	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:115168392C>T	ENST00000393274.1	-	4	839	c.214G>A	c.(214-216)Gat>Aat	p.D72N	DENND2C_ENST00000393277.1_Missense_Mutation_p.D72N|DENND2C_ENST00000393276.3_Missense_Mutation_p.D72N	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	72										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		CTGGTTACATCCAAGTTTTTG	0.363000													26	171					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148864865	148864865	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:148864865C>G	ENST00000367467.3	+	18	2734	c.2259C>G	c.(2257-2259)ccC>ccG	p.P753P		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	753							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCACCGAGCCCAGCTTGAAGT	0.463000													21	93					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30439147	30439147	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:30439147T>C	ENST00000448418.2	-	5	930	c.570A>G	c.(568-570)ctA>ctG	p.L190L	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000358117.5_Silent_p.L190L	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	190					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GACCTCTGGGTAGGTTAAAGC	0.517000													3	37					0	0	1	0	0
NUDT22	84304	broad.mit.edu	37	11	63996776	63996776	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:63996776G>A	ENST00000279206.3	+	4	793	c.637G>A	c.(637-639)Gag>Aag	p.E213K	NUDT22_ENST00000441250.2_Missense_Mutation_p.E180K|RP11-783K16.14_ENST00000534988.1_RNA	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	213	Nudix hydrolase.						hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CGCCCGAAATGAGACCAGTGC	0.632000													3	11					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151671634	151671634	+	Missense_Mutation	SNP	G	G	A	rs151321698	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:151671634G>A	ENST00000402676.2	+	4	2348	c.2108G>A	c.(2107-2109)gGa>gAa	p.G703E	AKAP12_ENST00000359755.5_Missense_Mutation_p.G598E|AKAP12_ENST00000354675.6_Missense_Mutation_p.G605E|AKAP12_ENST00000253332.1_Missense_Mutation_p.G703E	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	703					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAGGAAGGGGGACCAAAAGCA	0.502000													17	150					0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375619	46375619	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:46375619C>T	ENST00000302177.2	+	2	553	c.356C>T	c.(355-357)cCg>cTg	p.P119L		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	119					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GCCAAGCCACCGTATTCCTAT	0.627000													15	127					0	0	1	0	0
GINM1	116254	broad.mit.edu	37	6	149901812	149901812	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:149901812A>C	ENST00000367419.5	+	6	791	c.670A>C	c.(670-672)Aag>Cag	p.K224Q		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		TTTACCTGGCAAGTTACCTGA	0.398000													6	107					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78790483	78790483	+	Nonstop_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:78790483T>C	ENST00000258886.8	+	22	3039	c.2890T>C	c.(2890-2892)Tag>Cag	p.*964Q		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	0							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAAATTCTCATAGTATCTACT	0.388000													10	66					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1817224	1817224	+	Silent	SNP	G	G	A	rs141798167		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:1817224G>A	ENST00000170168.4	-	12	3289	c.3195C>T	c.(3193-3195)tgC>tgT	p.C1065C		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1065	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		TCACCATCTCGCAGTCCAGGG	0.647000													21	35					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183817542	183817542	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:183817542C>T	ENST00000361354.4	-	22	2854	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	NCKAP1_ENST00000360982.2_Missense_Mutation_p.E834K	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAATATTCCTCTGCATTGAAT	0.338000													9	44					0	0	1	0	0
CCR7	1236	broad.mit.edu	37	17	38711197	38711197	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:38711197A>G	ENST00000246657.2	-	3	996	c.934T>C	c.(934-936)Tac>Cac	p.Y312H	CCR7_ENST00000579344.1_Missense_Mutation_p.Y306H	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	312					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				GCCAGGCTGTAGGTGACGTCG	0.567000													13	122					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465452	77465452	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:77465452C>G	ENST00000282849.5	-	3	653	c.235G>C	c.(235-237)Gac>Cac	p.D79H	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	79					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCAAAATGTCGTGTGAAATA	0.488000													125	303					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193839	60193839	+	Silent	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:60193839G>T	ENST00000267484.5	-	3	1898	c.1563C>A	c.(1561-1563)tcC>tcA	p.S521S		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	521					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGTCGAGGAAGGAACCCGGCT	0.721000													3	8					0.004672	0.00477269	1	1	0
WDR20	91833	broad.mit.edu	37	14	102675837	102675837	+	Missense_Mutation	SNP	G	G	T	rs12888595	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:102675837G>T	ENST00000335263.5	+	3	1410	c.1330G>T	c.(1330-1332)Ggc>Tgc	p.G444C	WDR20_ENST00000342702.3_Missense_Mutation_p.G444C|WDR20_ENST00000545563.1_Missense_Mutation_p.G271C|WDR20_ENST00000499851.2_Missense_Mutation_p.G187C|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556807.1_Missense_Mutation_p.G383C|WDR20_ENST00000454394.2_Missense_Mutation_p.G475C|WDR20_ENST00000424963.2_Missense_Mutation_p.G320C|WDR20_ENST00000556511.2_Missense_Mutation_p.G383C|WDR20_ENST00000299135.6_3'UTR	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	444			G -> C (in dbSNP:rs12888595).							breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CTCAAATGCTGGCAGCAAAAG	0.537000											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	104					3.59834e-05	3.70785e-05	1	1	0
ITPKC	80271	broad.mit.edu	37	19	41239168	41239168	+	Missense_Mutation	SNP	G	G	A	rs144541337		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:41239168G>A	ENST00000263370.2	+	4	1606	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	525						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCTACCCCTGAGGAGCATGC	0.612000													8	71					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325626	152325626	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:152325626G>T	ENST00000388718.5	-	3	4708	c.4636C>A	c.(4636-4638)Cag>Aag	p.Q1546K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1546							calcium ion binding|structural molecule activity			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)			TCTCCTGTCTGTCCATGAGTA	0.483000													65	434					7.82978e-24	8.83647e-24	1	1	0
ANKMY1	51281	broad.mit.edu	37	2	241496770	241496770	+	Splice_Site	SNP	C	C	A	rs62621191	by1000genomes	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:241496770C>A	ENST00000391987.1	-	2	83		c.e2-1		ANKMY1_ENST00000373320.4_Splice_Site|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000361678.4_Splice_Site|ANKMY1_ENST00000403283.1_Splice_Site|ANKMY1_ENST00000373318.2_Splice_Site|ANKMY1_ENST00000401804.1_Splice_Site|ANKMY1_ENST00000406958.1_Splice_Site|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000405523.3_Splice_Site|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000272972.3_Intron	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1								zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GTCTTCCAACCTGCAAGCGAC	0.687000													7	102					7.48243e-07	7.95218e-07	1	1	0
TAF15	8148	broad.mit.edu	37	17	34149829	34149829	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:34149829A>G	ENST00000588240.1	+	6	591	c.476A>G	c.(475-477)cAc>cGc	p.H159R	TAF15_ENST00000311979.3_Missense_Mutation_p.H156R|TAF15_ENST00000592237.1_Missense_Mutation_p.H68R|AC015849.13_ENST00000589356.1_RNA|AC015849.19_ENST00000588415.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	159	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TACAGCCACCACACACAAGGT	0.378000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								12	160					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29554622	29554622	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:29554622C>G	ENST00000358273.4	+	20	2790	c.2407C>G	c.(2407-2409)Cag>Gag	p.Q803E	NF1_ENST00000356175.3_Missense_Mutation_p.Q803E	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	803					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGAAGATGGCCAGGTAAGTCT	0.353000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			6	107					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394264	17394264	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:17394264G>C	ENST00000394458.3	+	5	967	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	ANKLE1_ENST00000594072.1_Missense_Mutation_p.E220Q|ANKLE1_ENST00000598347.1_Missense_Mutation_p.E231Q|ANKLE1_ENST00000433424.2_Missense_Mutation_p.E285Q|ANKLE1_ENST00000404085.1_Missense_Mutation_p.E253Q	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	231						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CTCTGGAGCTGAGGACCCAGC	0.607000													14	98					0	0	1	0	0
GBX1	2636	broad.mit.edu	37	7	150845868	150845868	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:150845868G>A	ENST00000297537.4	-	2	899	c.900C>T	c.(898-900)ctC>ctT	p.L300L		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	300						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACCTCACTGAGCTTGAGGG	0.522000													9	160					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113444998	113444998	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:113444998G>C	ENST00000416899.2	+	2	250	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q	MUSK_ENST00000189978.5_Missense_Mutation_p.E42Q|MUSK_ENST00000374448.4_Missense_Mutation_p.E42Q|MUSK_ENST00000374440.3_5'UTR			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	42	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGCCTTAGTTGAAGAAGTGGC	0.393000													18	200					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:21971111G>A	ENST00000579755.1	-	2	582	c.290C>T	c.(289-291)gCa>gTa	p.A97V	CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741000	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	16					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457794	5457794	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:5457794G>C	ENST00000296564.7	+	12	1263	c.1041G>C	c.(1039-1041)gtG>gtC	p.V347V		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	347	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGTCACCAGTGCCCTCGCCCC	0.458000													62	420					0	0	1	0	0
FBXO41	150726	broad.mit.edu	37	2	73493771	73493771	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:73493771C>T	ENST00000521871.1	-	3	1360	c.945G>A	c.(943-945)gcG>gcA	p.A315A	FBXO41_ENST00000295133.5_Silent_p.A376A|FBXO41_ENST00000520530.2_Silent_p.A315A			Q8TF61	FBX41_HUMAN	F-box protein 41	315						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CCTCCCGCGCCGCCGTCTCCT	0.667000													7	77					0	0	1	0	0
CENPU	79682	broad.mit.edu	37	4	185622015	185622015	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:185622015C>G	ENST00000281453.5	-	11	1015	c.945G>C	c.(943-945)aaG>aaC	p.K315N	MLF1IP_ENST00000506535.1_Intron|MLF1IP_ENST00000541971.1_Missense_Mutation_p.K315N	NM_024629.3	NP_078905.2	Q71F23	CENPU_HUMAN		315					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GCTGCCTTTTCTTTTCGATAT	0.373000													8	87					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408168	105408168	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:105408168G>A	ENST00000333244.5	-	7	13739	c.13620C>T	c.(13618-13620)gcC>gcT	p.A4540A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4540						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTGAGGCCGGCTACCTCGG	0.632000													53	174					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35808507	35808507	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:35808507C>T	ENST00000216122.4	+	8	1078	c.924C>T	c.(922-924)cgC>cgT	p.R308R	MCM5_ENST00000382011.5_Silent_p.R265R|MCM5_ENST00000465557.1_3'UTR	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	308					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACCAAGGCCGCAGCTTTGCTG	0.627000													15	186					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394183	17394183	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:17394183G>T	ENST00000394458.3	+	5	886	c.610G>T	c.(610-612)Ggg>Tgg	p.G204W	ANKLE1_ENST00000594072.1_Missense_Mutation_p.G193W|ANKLE1_ENST00000598347.1_Missense_Mutation_p.G204W|ANKLE1_ENST00000433424.2_Missense_Mutation_p.G258W|ANKLE1_ENST00000404085.1_Missense_Mutation_p.G226W	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	204						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GGACAAACATGGGAGCTCGGC	0.607000													20	130					2.4624e-09	2.65267e-09	1	1	0
KDM4A	9682	broad.mit.edu	37	1	44156655	44156655	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:44156655A>T	ENST00000372396.3	+	14	2311	c.2177A>T	c.(2176-2178)tAt>tTt	p.Y726F		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	726					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TCTACTCCTTATCTTGAGGAG	0.532000													60	379					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107719297	107719297	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:107719297G>C	ENST00000445937.1	+	9	1809	c.1548G>C	c.(1546-1548)caG>caC	p.Q516H	OXR1_ENST00000312046.6_Missense_Mutation_p.Q509H|OXR1_ENST00000497705.1_Missense_Mutation_p.Q449H|OXR1_ENST00000517566.2_Missense_Mutation_p.Q516H|OXR1_ENST00000531443.1_Missense_Mutation_p.Q516H|OXR1_ENST00000442977.2_Missense_Mutation_p.Q517H|OXR1_ENST00000452423.2_Missense_Mutation_p.Q6H	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	517			K -> R.		cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAACTAAACAGCAAAGGGAAA	0.368000													12	151					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145890061	145890061	+	Silent	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:145890061A>G	ENST00000296702.5	+	22	3191	c.3153A>G	c.(3151-3153)ttA>ttG	p.L1051L	TCERG1_ENST00000394421.2_Silent_p.L1030L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1051	FF 6.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAAAATTTTACAGAATGACA	0.418000													31	46					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70319061	70319061	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:70319061C>G	ENST00000338508.4	-	33	5465	c.5466G>C	c.(5464-5466)caG>caC	p.Q1822H	SHANK2_ENST00000449833.2_Missense_Mutation_p.Q1226H|SHANK2_ENST00000409161.1_Missense_Mutation_p.Q1225H|SHANK2_ENST00000423696.2_Missense_Mutation_p.Q1442H			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1442					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGTCCTCCTTCTGCAGGTTTG	0.493000													21	448					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140890659	140890659	+	Silent	SNP	C	C	T	rs143362044	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:140890659C>T	ENST00000252085.3	+	4	2860	c.2718C>T	c.(2716-2718)aaC>aaT	p.N906N	PCDHGB2_ENST00000522605.1_Silent_p.N905N|PCDHGA9_ENST00000573521.1_Silent_p.N906N|PCDHGA10_ENST00000398610.2_Silent_p.N910N|PCDHGA6_ENST00000517434.1_Silent_p.N906N|PCDHGA11_ENST00000518882.1_Silent_p.N724N|PCDHGA2_ENST00000394576.2_Silent_p.N906N|PCDHGC3_ENST00000308177.3_Silent_p.N908N|PCDHGB4_ENST00000519479.1_Silent_p.N897N|PCDHGC5_ENST00000252087.1_Silent_p.N918N|PCDHGC4_ENST00000306593.1_Silent_p.N912N|PCDHGA1_ENST00000517417.1_Silent_p.N905N|PCDHGB6_ENST00000520790.1_Silent_p.N904N|PCDHGA4_ENST00000571252.1_Silent_p.N905N|PCDHGA8_ENST00000398604.2_Silent_p.N906N|PCDHGB3_ENST00000576222.1_Silent_p.N903N|PCDHGA7_ENST00000518325.1_Silent_p.N906N|PCDHGA11_ENST00000398587.2_Silent_p.N909N|PCDHGA5_ENST00000518069.1_Silent_p.N905N|PCDHGB1_ENST00000523390.1_Silent_p.N901N|PCDHGA3_ENST00000253812.6_Silent_p.N906N|PCDHGB7_ENST00000398594.2_Silent_p.N903N	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGACCAACGCAGCTGGCA	0.597000													8	127					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45658163	45658163	+	Silent	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:45658163A>C	ENST00000267430.5	+	20	5023	c.4938A>C	c.(4936-4938)gcA>gcC	p.A1646A	FANCM_ENST00000542564.2_Silent_p.A1620A	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1646					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CTCGACGTGCAGTAATGCTAA	0.318000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	82					0	0	1	0	0
RAB6B	51560	broad.mit.edu	37	3	133614283	133614283	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:133614283G>A	ENST00000285208.4	-	1	377	c.28C>T	c.(28-30)Cca>Tca	p.P10S	RAB6B_ENST00000469959.1_Missense_Mutation_p.P10S|RAB6B_ENST00000543906.1_Missense_Mutation_p.P10S|RAB6B_ENST00000486858.1_5'UTR	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	10					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						TTTCTCAGTGGATTCCCAAAA	0.607000													7	85					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152621819	152621819	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:152621819C>G	ENST00000367255.5	-	93	18240	c.17639G>C	c.(17638-17640)cGc>cCc	p.R5880P	SYNE1_ENST00000423061.1_Missense_Mutation_p.R5809P|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5809P|SYNE1_ENST00000341594.5_Missense_Mutation_p.R5492P|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5880P|SYNE1_ENST00000356820.4_Missense_Mutation_p.R404P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5880					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGGGGAGCGACAGGCAGG	0.537000										HNSCC(10;0.0054)			6	74					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64968122	64968122	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:64968122G>A	ENST00000326648.3	+	4	3197	c.3069G>A	c.(3067-3069)aaG>aaA	p.K1023K		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1023						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGTGGACAAGAAGGCAGAGA	0.577000													24	132					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107773566	107773566	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:107773566C>T	ENST00000311955.3	-	2	899	c.845G>A	c.(844-846)gGa>gAa	p.G282E		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	282	Interaction with actin (By similarity).				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCCCTCATCTCCTTTGTGTAG	0.517000													75	100					0	0	1	0	0
RAD51	5888	broad.mit.edu	37	15	41020994	41020994	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:41020994C>G	ENST00000267868.3	+	7	884	c.616C>G	c.(616-618)Caa>Gaa	p.Q206E	RAD51_ENST00000382643.3_Missense_Mutation_p.Q207E|RAD51_ENST00000423169.2_Missense_Mutation_p.Q206E|RAD51_ENST00000532743.1_Missense_Mutation_p.Q207E|RAD51_ENST00000557850.1_Missense_Mutation_p.Q109E	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	206	Interaction with PALB2.				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GCTCCTTTATCAAGCATCAGC	0.443000								Homologous recombination					34	199					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31326430	31326430	+	Silent	SNP	A	A	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr18:31326430A>T	ENST00000269197.5	+	12	6618	c.6618A>T	c.(6616-6618)gcA>gcT	p.A2206A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAGCAATGCAGATGAATTGG	0.517000													5	77					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195712586	195712586	+	RNA	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:195712586C>T	ENST00000427841.1	-	0	250					NR_003264.2																						AAATGCAGCTCGCAAAGCCGG	0.493000													4	44					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256667	140256667	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:140256667C>T	ENST00000398631.2	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGACGCC	0.687000													107	89					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197521488	197521488	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:197521488G>A	ENST00000389175.4	+	3	443	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	103								p.R103Q(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGTAAATCGAATGTGCCGT	0.398000													29	65					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55539318	55539318	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:55539318G>T	ENST00000219070.4	+	13	2456	c.1947G>T	c.(1945-1947)aaG>aaT	p.K649N	MMP2_ENST00000437642.2_Missense_Mutation_p.K599N|MMP2_ENST00000570308.1_Missense_Mutation_p.K573N|MMP2_ENST00000543485.1_Missense_Mutation_p.K573N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	649	Hemopexin-like 4.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGAGCGTGAAGTTTGGAAGCA	0.552000													21	165					3.5997e-14	3.98658e-14	1	1	0
TLR9	54106	broad.mit.edu	37	3	52256140	52256140	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:52256140T>G	ENST00000597542.1	-	9	3221	c.2264A>C	c.(2263-2265)aAc>aCc	p.N755T	TLR9_ENST00000360658.2_Missense_Mutation_p.N731T|TLR9_ENST00000494383.1_Missense_Mutation_p.Q884H			Q9NR96	TLR9_HUMAN	toll-like receptor 9	731					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GGCGCTAAGGTTGAGCTCTCG	0.617000													14	139					0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41946363	41946363	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr13:41946363G>A	ENST00000379406.3	+	16	2296	c.1972G>A	c.(1972-1974)Gtt>Att	p.V658I	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	658					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AGAGGAAGCCGTTAAGTTCCT	0.279000													62	34					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187201424	187201424	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:187201424G>A	ENST00000264692.4	+	9	1090	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	F11_ENST00000403665.2_Missense_Mutation_p.E305K			P03951	FA11_HUMAN	coagulation factor XI	305	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.E305K(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CTTGGGAGAAGAACTGGATAT	0.493000													16	207					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23913766	23913766	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr13:23913766C>T	ENST00000382298.3	-	10	4837	c.4249G>A	c.(4249-4251)Gaa>Aaa	p.E1417K	SACS_ENST00000402364.1_Missense_Mutation_p.E667K|SACS_ENST00000382292.3_Missense_Mutation_p.E1417K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1417					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATGATTGGTTCCACAGAATCT	0.368000													16	107					0	0	1	0	0
SYNGR1	9145	broad.mit.edu	37	22	39770522	39770522	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:39770522C>G	ENST00000328933.5	+	2	316	c.301C>G	c.(301-303)Cgc>Ggc	p.R101G	SYNGR1_ENST00000216155.7_Missense_Mutation_p.R101G|SYNGR1_ENST00000318801.4_Missense_Mutation_p.R101G|SYNGR1_ENST00000381535.4_Missense_Mutation_p.R102G|SYNGR1_ENST00000406293.3_Missense_Mutation_p.R101G	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					CGTCAAGGACCGCAAGAAAGC	0.647000													13	174					0	0	1	0	0
RNF169	254225	broad.mit.edu	37	11	74500681	74500681	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:74500681C>G	ENST00000299563.4	+	2	526	c.513C>G	c.(511-513)ttC>ttG	p.F171L		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	171							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACTTTATATTCAGAGCACCAA	0.343000													14	228					0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2847298	2847298	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrY:2847298C>T	ENST00000155093.3	+	8	1991	c.1670C>T	c.(1669-1671)tCg>tTg	p.S557L	ZFY-AS1_ENST00000417305.1_RNA|ZFY_ENST00000383052.1_Missense_Mutation_p.S557L|ZFY_ENST00000478783.1_3'UTR|ZFY_ENST00000431102.1_Missense_Mutation_p.S366L|ZFY_ENST00000449237.1_Missense_Mutation_p.S480L	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						CGACACCCGTCGGAACTGAGA	0.473000													6	26					0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58465375	58465375	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:58465375G>A	ENST00000219919.4	+	3	717	c.347G>A	c.(346-348)gGg>gAg	p.G116E	AQP9_ENST00000536493.1_Missense_Mutation_p.G116E|AQP9_ENST00000558772.1_Missense_Mutation_p.G51E|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	116					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GCCTTTGTGGGGGCTGCAACC	0.453000													34	158					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072052	134072052	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:134072052C>T	ENST00000264360.5	+	1	1583	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTTCGACCAACCCGTCTACAC	0.652000													7	97					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152712644	152712644	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:152712644G>A	ENST00000367255.5	-	52	8373	c.7772C>T	c.(7771-7773)gCt>gTt	p.A2591V	SYNE1_ENST00000423061.1_Missense_Mutation_p.A2598V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2598V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2630V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A2591V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2591					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCTGCCCAGCACCGTGGCC	0.478000										HNSCC(10;0.0054)			5	77					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44746824	44746824	+	Splice_Site	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:44746824G>A	ENST00000222673.5	+	21	2675	c.2633G>A	c.(2632-2634)gGa>gAa	p.G878E	OGDH_ENST00000444676.1_Splice_Site_p.G893E|OGDH_ENST00000449767.1_Splice_Site_p.G874E|OGDH_ENST00000439616.2_Splice_Site_p.G728E|OGDH_ENST00000543843.1_Splice_Site_p.G829E|OGDH_ENST00000447398.1_Splice_Site_p.G889E	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	878					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCTCTTGTAGGAACCCACTTC	0.562000													6	102					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471606	47471606	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:47471606C>G	ENST00000266581.4	-	2	1646	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	AMIGO2_ENST00000321382.3_Missense_Mutation_p.E394Q|AMIGO2_ENST00000550413.1_Missense_Mutation_p.E394Q|AMIGO2_ENST00000429635.1_Missense_Mutation_p.E394Q	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	394					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TTAAATGCCTCATGAGCATGG	0.428000													12	63					0	0	1	0	0
MTMR2	8898	broad.mit.edu	37	11	95568599	95568599	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:95568599C>G	ENST00000393223.3	-	17	2233	c.1571G>C	c.(1570-1572)aGa>aCa	p.R524T	MTMR2_ENST00000352297.7_Missense_Mutation_p.R524T|MTMR2_ENST00000409459.1_Missense_Mutation_p.R524T|MTMR2_ENST00000346299.5_Missense_Mutation_p.R596T	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	596	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCTTTGTATCTGTTGTGAAT	0.408000													9	128					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88670429	88670429	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:88670429G>A	ENST00000394480.2	-	12	1578	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	NTRK3_ENST00000540489.2_Silent_p.I419I|NTRK3_ENST00000317501.3_Silent_p.I419I|NTRK3_ENST00000558676.1_Silent_p.I411I|NTRK3_ENST00000360948.2_Silent_p.I419I|NTRK3_ENST00000355254.2_Silent_p.I419I|NTRK3_ENST00000542733.2_Silent_p.I321I|NTRK3_ENST00000557856.1_Silent_p.I411I|NTRK3_ENST00000357724.2_Silent_p.I411I	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGTCACAGTGATAGGAGGTG	0.498000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			4	28					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62415419	62415419	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:62415419C>T	ENST00000330574.2	-	2	2185	c.2133G>A	c.(2131-2133)ggG>ggA	p.G711G		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	711					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TCTCATTGTCCCCATCTACTT	0.557000													7	80					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65315517	65315517	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:65315517C>T	ENST00000532932.1	-	1	873	c.10G>A	c.(10-12)Gag>Aag	p.E4K	LTBP3_ENST00000322147.4_Splice_Site|LTBP3_ENST00000301873.5_Splice_Site|LTBP3_ENST00000536982.1_Splice_Site			Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	574	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TCATCAGTCTCTGCGGGCATG	0.637000													5	80					0	0	1	0	0
EYA3	2140	broad.mit.edu	37	1	28362171	28362171	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:28362171G>C	ENST00000373871.3	-	6	485	c.245C>G	c.(244-246)tCa>tGa	p.S82*	EYA3_ENST00000373863.3_Nonsense_Mutation_p.S82*|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_Nonsense_Mutation_p.S29*|EYA3_ENST00000540618.1_Nonsense_Mutation_p.S82*|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000436342.2_5'UTR	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	82					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AACAGGAACTGAGAGAATATG	0.398000													7	134					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123900543	123900543	+	Splice_Site	SNP	T	T	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:123900543T>G	ENST00000274008.4	+	10	1938		c.e10+2		SPATA5_ENST00000422835.2_Splice_Site	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GTCCCAAATGTAAGTCATTTA	0.388000													13	172					0	0	1	0	0
STAM	8027	broad.mit.edu	37	10	17750829	17750829	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:17750829A>T	ENST00000377524.3	+	13	1479	c.1264A>T	c.(1264-1266)Atg>Ttg	p.M422L	STAM_ENST00000540523.1_Missense_Mutation_p.M311L	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	422					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GAACGCGCAGATGAGCCACCT	0.527000													41	103					0	0	1	0	0
TMEM33	55161	broad.mit.edu	37	4	41941219	41941219	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:41941219T>C	ENST00000504986.1	+	3	512	c.147T>C	c.(145-147)caT>caC	p.H49H	TMEM33_ENST00000325094.5_Silent_p.H49H|TMEM33_ENST00000513702.1_Silent_p.H49H	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	49						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						GCAGGTTGCATGAAGCAGCAA	0.438000													10	101					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2956960	2956960	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:2956960G>C	ENST00000396946.4	-	20	3070	c.2667C>G	c.(2665-2667)ctC>ctG	p.L889L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	889					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGCTCGCGAGAGACGGGGGC	0.557000			Mis		DLBCL								4	40					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	22					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21427510	21427510	+	Silent	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:21427510A>C	ENST00000307378.6	-	15	2406	c.1686T>G	c.(1684-1686)ccT>ccG	p.P562P	SLCO1A2_ENST00000537524.1_Silent_p.P430P|SLCO1A2_ENST00000458504.1_Silent_p.P430P|SLCO1A2_ENST00000452078.1_Silent_p.P562P	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	562					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ATATAGGTGCAGGAATGCCAG	0.363000													15	140					0	0	1	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98510824	98510824	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:98510824C>G	ENST00000265261.6	+	9	964	c.542C>G	c.(541-543)tCt>tGt	p.S181C	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.S299C|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.S299C	NM_001271142.1|NM_001271147.1	NP_001258071.1|NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	299					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GCCACCATGTCTTTGATGAAT	0.373000													9	156					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44740795	44740795	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:44740795C>A	ENST00000313040.7	+	6	2417	c.2212C>A	c.(2212-2214)Cac>Aac	p.H738N	ZNF227_ENST00000391961.2_Missense_Mutation_p.H687N|ZNF227_ENST00000589005.1_Missense_Mutation_p.H687N|ZNF235_ENST00000589799.1_3'UTR	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CCTGGGTGTTCACACCAGGGA	0.498000													15	146					1.15088e-07	1.22864e-07	1	1	0
TSPYL5	85453	broad.mit.edu	37	8	98288924	98288924	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:98288924C>T	ENST00000322128.3	-	1	1252	c.1149G>A	c.(1147-1149)ttG>ttA	p.L383L		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	383					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CCCCTTCACTCAAAAGGTAGA	0.483000													42	321					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939791	76939791	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrX:76939791C>G	ENST00000373344.5	-	9	1171	c.957G>C	c.(955-957)aaG>aaC	p.K319N	ATRX_ENST00000395603.3_Missense_Mutation_p.K281N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	319					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTGAACTAGTCTTCTTTGGAG	0.333000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						11	80					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153144142	153144142	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:153144142G>C	ENST00000285900.5	+	12	2315	c.1972G>C	c.(1972-1974)Gaa>Caa	p.E658Q	GRIA1_ENST00000448073.4_Missense_Mutation_p.E668Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.E589Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.E668Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.E578Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.E658Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	658					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAGCAGACAGAAATTGCCTA	0.507000													8	52					0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36163852	36163852	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:36163852G>A	ENST00000274255.6	+	3	582	c.386G>A	c.(385-387)cGc>cAc	p.R129H	SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.R129H|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	129	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGTGGTATCGCCTAGCGTAA	0.468000													10	120					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9498900	9498900	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:9498900C>A	ENST00000281419.3	+	15	1683	c.1343C>A	c.(1342-1344)tCc>tAc	p.S448Y	ASAP2_ENST00000315273.4_Missense_Mutation_p.S448Y	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	448	Arf-GAP.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACATGGCTTTCCACCAACCTG	0.498000													48	321					4.75955e-12	5.19822e-12	1	1	0
PHACTR4	65979	broad.mit.edu	37	1	28817515	28817515	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:28817515C>G	ENST00000373839.3	+	11	2130	c.1869C>G	c.(1867-1869)ctC>ctG	p.L623L	PHACTR4_ENST00000373836.3_Silent_p.L633L|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	623							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AACGTCGGCTCACTAGAAAGG	0.388000													9	74					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18757543	18757543	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:18757543G>A	ENST00000304081.4	-	8	1336	c.1236C>T	c.(1234-1236)ctC>ctT	p.L412L	NT5C1B_ENST00000600945.1_Silent_p.L472L|NT5C1B-RDH14_ENST00000532967.1_Silent_p.L472L|NT5C1B_ENST00000359846.2_Silent_p.L472L	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CATCAGAGAAGAGGACAGCAT	0.453000													5	83					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754415	76754415	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr18:76754415C>A	ENST00000536229.3	+	1	2734	c.2025C>A	c.(2023-2025)gaC>gaA	p.D675E	SALL3_ENST00000575389.2_Missense_Mutation_p.D808E|SALL3_ENST00000537592.2_Missense_Mutation_p.D808E			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	808					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGGAGGACGACGCTGAGCTGA	0.657000													5	22					0.014758	0.0149472	1	1	0
ABCG2	9429	broad.mit.edu	37	4	89039320	89039320	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:89039320G>C	ENST00000237612.3	-	7	1327	c.782C>G	c.(781-783)tCa>tGa	p.S261*	ABCG2_ENST00000515655.1_Nonsense_Mutation_p.S261*	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	261	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	AAGTCTTCCTGAGGCCAATAA	0.423000													9	107					0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39516075	39516075	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:39516075C>T	ENST00000292853.4	-	6	947	c.828G>A	c.(826-828)gtG>gtA	p.V276V	FBXO27_ENST00000509137.2_Silent_p.V276V|FBXO27_ENST00000600828.1_Silent_p.V275V	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	276	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCGCACGATCACACTGGAGT	0.587000													8	143					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	205969201	205969201	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:205969201G>C	ENST00000406610.2	+	5	763	c.556G>C	c.(556-558)Gaa>Caa	p.E186Q	PARD3B_ENST00000349953.3_Missense_Mutation_p.E186Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.E186Q|PARD3B_ENST00000358768.2_Missense_Mutation_p.E186Q|PARD3B_ENST00000462231.1_Missense_Mutation_p.E186Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	186					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGTACAGACAGAACTACTAAC	0.338000													29	128					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37153561	37153561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr20:37153561C>A	ENST00000262879.6	+	11	2044	c.1760C>A	c.(1759-1761)tCa>tAa	p.S587*	RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.S365*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.S587*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.S587*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	587					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TACTTTATTTCAGCTCTTGAA	0.433000													55	275					3.8128e-34	4.32361e-34	1	1	0
TSPYL6	388951	broad.mit.edu	37	2	54482756	54482756	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:54482756C>G	ENST00000317802.7	-	1	653	c.533G>C	c.(532-534)aGa>aCa	p.R178T	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	178					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						ATCTATTGCTCTGTTTTCTTC	0.617000													15	166					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247151507	247151507	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:247151507C>A	ENST00000339986.7	-	4	457	c.310G>T	c.(310-312)Gtt>Ttt	p.V104F	ZNF695_ENST00000498046.2_5'UTR|ZNF695_ENST00000487338.2_Missense_Mutation_p.V104F	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	104					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGAATGAAACTTGCAGGCCC	0.373000													45	111					6.57855e-14	7.2517e-14	1	1	0
TTN	7273	broad.mit.edu	37	2	179474920	179474920	+	Silent	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:179474920G>T	ENST00000589042.1	-	271	51557	c.51333C>A	c.(51331-51333)ctC>ctA	p.L17111L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.L8238L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.L15470L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.L8171L|TTN_ENST00000460472.2_Silent_p.L8046L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.L14543L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15470	Ig-like 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTGGTATGAGATCCTTCA	0.418000													27	220					5.61819e-17	6.28071e-17	1	1	0
PCLO	27445	broad.mit.edu	37	7	82585934	82585934	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:82585934C>T	ENST00000333891.9	-	5	4672	c.4335G>A	c.(4333-4335)caG>caA	p.Q1445Q	PCLO_ENST00000423517.2_Silent_p.Q1445Q	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTCTTTAGGCTGTTCAGGAG	0.373000													33	57					0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75917840	75917840	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:75917840C>T	ENST00000321027.3	-	8	1283	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	GCFC2_ENST00000541687.1_3'UTR|MRPL19_ENST00000358788.6_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.D346N	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	384					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										GATGTCTCATCTTTGCCTGTT	0.289000													19	163					0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126794886	126794886	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:126794886C>T	ENST00000373615.4	+	5	1860	c.1121C>T	c.(1120-1122)aCc>aTc	p.T374I		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	374						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						ACTAGCCCCACCCTGCCAACT	0.617000													8	68					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102669092	102669092	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:102669092G>A	ENST00000393772.2	-	4	598	c.172C>T	c.(172-174)Cat>Tat	p.H58Y	FBXL13_ENST00000436908.1_Missense_Mutation_p.H58Y|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.H58Y|FBXL13_ENST00000379305.3_Missense_Mutation_p.H58Y|FBXL13_ENST00000313221.4_Missense_Mutation_p.H58Y|FBXL13_ENST00000456695.1_Missense_Mutation_p.H58Y|FBXL13_ENST00000455112.2_Missense_Mutation_p.H58Y|FBXL13_ENST00000379306.3_Missense_Mutation_p.H58Y			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	58										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TGCCAGTGATGAAATACAGAT	0.318000													8	101					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11355053	11355053	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:11355053C>G	ENST00000315872.6	-	16	2297	c.1849G>C	c.(1849-1851)Gaa>Caa	p.E617Q	ROCK2_ENST00000401753.1_Missense_Mutation_p.E374Q	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	617	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AATTCCTTTTCAAGTTTTAAC	0.383000													6	94					0	0	1	0	0
RPF2	84154	broad.mit.edu	37	6	111346773	111346773	+	Silent	SNP	T	T	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:111346773T>A	ENST00000441448.2	+	10	1001	c.909T>A	c.(907-909)atT>atA	p.I303I		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	303						nucleolus	protein binding	p.I303I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						CAAAAAGAATTAAAAAAAATT	0.368000													8	28					0	0	1	0	0
SMARCE1	6605	broad.mit.edu	37	17	38788611	38788611	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:38788611C>T	ENST00000348513.6	-	8	1330	c.550G>A	c.(550-552)Gat>Aat	p.D184N	SMARCE1_ENST00000400122.3_Missense_Mutation_p.D114N|SMARCE1_ENST00000377808.4_Missense_Mutation_p.D149N|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.D149N|SMARCE1_ENST00000431889.2_Missense_Mutation_p.D166N|SMARCE1_ENST00000544009.1_Missense_Mutation_p.D114N|SMARCE1_ENST00000578044.1_Missense_Mutation_p.D114N	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	184					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				GAAAAGCCATCATCATAATCT	0.433000													35	67					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3438937	3438937	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:3438937G>A	ENST00000301365.4	-	7	845	c.714C>T	c.(712-714)ggC>ggT	p.G238G	TRPV3_ENST00000572519.1_Silent_p.G238G|TRPV3_ENST00000576742.1_Silent_p.G238G			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	238						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TGACGTCGGCGCCGGCGGCGA	0.721000													5	21					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	427570	427570	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:427570G>A	ENST00000431232.2	-	3	475	c.315C>T	c.(313-315)ggC>ggT	p.G105G	TMEM8A_ENST00000250930.3_5'UTR|TMEM8A_ENST00000476735.1_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	105					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CCGGAGGGGCGCCGGAACGGA	0.711000													4	5					0	0	1	0	0
DPM3	54344	broad.mit.edu	37	1	155112686	155112686	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:155112686G>A	ENST00000368399.1	-	1	197	c.121C>T	c.(121-123)Cta>Tta	p.L41L	DPM3_ENST00000341298.3_Silent_p.L11L|DPM3_ENST00000368400.4_Silent_p.L11L	NM_018973.3	NP_061846.2	Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	11					C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding			endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGATCGCTAGTCCCCAAAGC	0.607000													32	43					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31918657	31918657	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:31918657C>G	ENST00000556679.1	+	26	3352	c.3297C>G	c.(3295-3297)ctC>ctG	p.L1099L	CFB_ENST00000477310.1_Silent_p.L948L|CFB_ENST00000456570.1_Silent_p.L1099L|CFB_ENST00000425368.2_Silent_p.L597L			P00751	CFAB_HUMAN	complement factor B	597					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCATTTGTCTCCCCTGCACCG	0.532000													18	130					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585963	7585963	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:7585963C>A	ENST00000379802.3	+	24	8809	c.8468C>A	c.(8467-8469)cCg>cAg	p.P2823Q	DSP_ENST00000418664.2_Missense_Mutation_p.P2224Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2823	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTTCGGCTCCGGGGtcccgc	0.632000													27	137					2.44723e-14	2.72298e-14	1	1	0
PMS1	5378	broad.mit.edu	37	2	190728630	190728630	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:190728630C>G	ENST00000441310.2	+	10	2251	c.2018C>G	c.(2017-2019)tCt>tGt	p.S673C	PMS1_ENST00000432292.3_Missense_Mutation_p.S497C|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.S497C|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000409823.3_Missense_Mutation_p.S634C	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	673					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACCTCATTATCTAATCAACCA	0.358000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					13	117					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701410	143701410	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:143701410C>G	ENST00000408922.2	+	1	389	c.321C>G	c.(319-321)ctC>ctG	p.L107L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCATTGCTCTCATGTGCACAG	0.483000													16	262					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44174150	44174150	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr21:44174150C>T	ENST00000291539.6	+	10	846	c.786C>T	c.(784-786)gaC>gaT	p.D262D	PDE9A_ENST00000398234.3_Silent_p.D161D|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000380328.2_Silent_p.D209D|PDE9A_ENST00000398225.3_Silent_p.D221D|PDE9A_ENST00000398227.3_Silent_p.D102D|PDE9A_ENST00000398236.3_Silent_p.D176D|PDE9A_ENST00000539837.1_Silent_p.D134D|PDE9A_ENST00000349112.3_Silent_p.D134D|PDE9A_ENST00000328862.6_Silent_p.D236D|PDE9A_ENST00000398224.3_Silent_p.D135D|PDE9A_ENST00000398232.3_Silent_p.D195D|PDE9A_ENST00000398229.3_Silent_p.D128D|PDE9A_ENST00000335440.6_Silent_p.D160D|PDE9A_ENST00000335512.4_Silent_p.D202D	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	262					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	p.D262D(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						CGACCTTTGACGTCTGGCTTT	0.627000													7	56					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89985813	89985813	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:89985813C>A	ENST00000405460.2	+	30	6722	c.6626C>A	c.(6625-6627)aCa>aAa	p.T2209K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2209					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGAATGAAACAACAGGAGGA	0.398000													11	9					3.07112e-06	3.2206e-06	1	1	0
FLG2	388698	broad.mit.edu	37	1	152323576	152323576	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:152323576G>A	ENST00000388718.5	-	3	6758	c.6686C>T	c.(6685-6687)aCc>aTc	p.T2229I	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2229							calcium ion binding|structural molecule activity			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)			ATGTCTAGTGGTATCTCCTGT	0.527000													203	475					0	0	1	0	0
CSN3	1448	broad.mit.edu	37	4	71114859	71114859	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:71114859C>T	ENST00000304954.3	+	4	318	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	78						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATATGTGCCTCGCACATATTA	0.448000													9	91					0	0	1	0	0
TMEM99	147184	broad.mit.edu	37	17	38991162	38991162	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:38991162C>G	ENST00000301665.3	+	3	698	c.394C>G	c.(394-396)Cac>Gac	p.H132D		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	132						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				TCAAGGGTCTCACGTTGCAGC	0.512000													16	269					0	0	1	0	0
IRAK1BP1	134728	broad.mit.edu	37	6	79577433	79577433	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:79577433A>C	ENST00000369940.2	+	1	245	c.140A>C	c.(139-141)cAa>cCa	p.Q47P		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	47	Intrinsically disordered.				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		ACACAAGCCCAAACTGCTACC	0.652000													12	45					0	0	1	0	0
SLC39A3	29985	broad.mit.edu	37	19	2733469	2733469	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:2733469C>G	ENST00000269740.4	-	3	554	c.225G>C	c.(223-225)ctG>ctC	p.L75L	SLC39A3_ENST00000545664.1_Silent_p.L75L|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	75						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		GGCCGAGGCTCAGGACCTTCT	0.632000													7	84					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493466	60493466	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:60493466G>C	ENST00000450662.2	+	12	1320	c.1249G>C	c.(1249-1251)Gac>Cac	p.D417H	EFCAB3_ENST00000305286.3_Missense_Mutation_p.D365H	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	365							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GATTGGGATGGACTCTAGAAA	0.398000													17	120					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640747	179640747	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:179640747C>G	ENST00000589042.1	-	28	6068	c.5844G>C	c.(5842-5844)gaG>gaC	p.E1948D	TTN_ENST00000342175.6_Missense_Mutation_p.E1902D|TTN_ENST00000591111.1_Missense_Mutation_p.E1948D|TTN_ENST00000359218.5_Missense_Mutation_p.E1902D|TTN_ENST00000460472.2_Missense_Mutation_p.E1902D|TTN_ENST00000342992.6_Missense_Mutation_p.E1948D|TTN_ENST00000360870.5_Missense_Mutation_p.E1948D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1679							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACGTGAAACTCAGGCCTTG	0.423000													18	261					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	131010868	131010868	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:131010868G>T	ENST00000341179.7	+	19	2004	c.1912G>T	c.(1912-1914)Gag>Tag	p.E638*	DNM1_ENST00000393594.3_Nonsense_Mutation_p.E638*|DNM1_ENST00000475805.1_Nonsense_Mutation_p.E638*|DNM1_ENST00000486160.1_Nonsense_Mutation_p.E638*|DNM1_ENST00000372923.3_Nonsense_Mutation_p.E638*	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	638					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCAGGCCAGCGAGACCGAGGA	0.597000													15	109					2.61681e-11	2.8319e-11	1	1	0
AGPS	8540	broad.mit.edu	37	2	178346824	178346824	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:178346824C>G	ENST00000264167.4	+	11	1289	c.1143C>G	c.(1141-1143)atC>atG	p.I381M	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	381	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CAATAAAAATCAGACCAGTCC	0.338000													10	47					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45214642	45214642	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:45214642C>G	ENST00000066544.3	-	14	1882	c.1789G>C	c.(1789-1791)Gat>Cat	p.D597H	CDC27_ENST00000446365.2_Missense_Mutation_p.D536H|CDC27_ENST00000531206.1_Missense_Mutation_p.D603H|CDC27_ENST00000527547.1_Missense_Mutation_p.D596H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	597					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAATTTGGATCAACTTGGATA	0.393000													7	64					0	0	1	0	0
ECHDC1	55862	broad.mit.edu	37	6	127611373	127611373	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:127611373T>C	ENST00000531967.1	-	6	1068	c.565A>G	c.(565-567)Ata>Gta	p.I189V	ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.I166V|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000430841.2_Missense_Mutation_p.I183V|ECHDC1_ENST00000454859.3_Missense_Mutation_p.I183V|ECHDC1_ENST00000474289.2_Missense_Mutation_p.I183V|ECHDC1_ENST00000488087.1_5'UTR|ECHDC1_ENST00000454591.2_Missense_Mutation_p.I108V	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	189							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		CTTGGTATTATGCCCATCTCT	0.413000													10	84					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988787	154988787	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:154988787G>A	ENST00000368426.3	+	4	1383	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D450N|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D416N|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D416N	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	416					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACAGCTACGACCTCAAGAA	0.627000													32	91					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23548778	23548778	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:23548778G>A	ENST00000262710.1	-	6	2267	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	ACIN1_ENST00000457657.1_Missense_Mutation_p.S607L|ACIN1_ENST00000605057.1_Missense_Mutation_p.S589L|ACIN1_ENST00000555053.1_Missense_Mutation_p.S647L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	647	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GCTTGATGCTGAACGAGAACG	0.498000													54	582					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6078463	6078463	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:6078463G>C	ENST00000261405.5	-	45	7897	c.7643C>G	c.(7642-7644)tCc>tGc	p.S2548C		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2548					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGGGGCAGGAGACGTTCCT	0.607000													6	84					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73625043	73625043	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:73625043C>A	ENST00000317905.5	-	16	2619	c.2460G>T	c.(2458-2460)caG>caT	p.Q820H	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.Q793H	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	820					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACTCCTCAGTCTGGGGAGGGG	0.617000								Other identified genes with known or suspected DNA repair function					8	89					2.17888e-05	2.26489e-05	1	1	0
KIAA1045	23349	broad.mit.edu	37	9	34977116	34977116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:34977116G>T	ENST00000242315.3	+	6	968	c.886G>T	c.(886-888)Gag>Tag	p.E296*	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Nonsense_Mutation_p.E296*	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	296							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAAGGAGCGGGAGCGAGCCCG	0.572000													27	76					1.88708e-17	2.11962e-17	1	1	0
COX16	51241	broad.mit.edu	37	14	70793096	70793096	+	Missense_Mutation	SNP	A	A	C	rs139121123		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:70793096A>C	ENST00000389912.6	-	4	418	c.275T>G	c.(274-276)cTc>cGc	p.L92R	SYNJ2BP-COX16_ENST00000555276.1_RNA|COX16_ENST00000557612.1_5'UTR	NM_016468.6	NP_057552.1			COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)											large_intestine(1)|lung(2)	3						TCCTTGGAGGAGGTCAGGATC	0.328000													4	45					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088385	86088385	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:86088385T>C	ENST00000330753.4	+	2	1294	c.527T>C	c.(526-528)gTt>gCt	p.V176A	FLRT2_ENST00000554746.1_Missense_Mutation_p.V176A	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	176					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGTGTGCCTGTTGGGCTTCCT	0.502000													48	58					0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65817531	65817531	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:65817531G>C	ENST00000304842.5	+	4	1509	c.1084G>C	c.(1084-1086)Gaa>Caa	p.E362Q	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	362					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTTTCTTAAAGAAAAACCACA	0.383000													22	187					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112179759	112179759	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:112179759C>G	ENST00000457016.1	+	16	8848	c.8468C>G	c.(8467-8469)aCa>aGa	p.T2823R	APC_ENST00000508376.2_Missense_Mutation_p.T2823R|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.T2823R			P25054	APC_HUMAN	adenomatous polyposis coli	2823	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACTGACAGCACAGAATCCAGT	0.438000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			40	42					0	0	1	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234919	26234919	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:26234919G>C	ENST00000244534.5	-	1	297	c.243C>G	c.(241-243)atC>atG	p.I81M		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	81	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GGCCAAGCTTGATACGGCTGT	0.542000													22	160					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52962228	52962228	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:52962228G>A	ENST00000394752.3	-	9	1409	c.1027C>T	c.(1027-1029)Cta>Tta	p.L343L	SFMBT1_ENST00000394750.1_Silent_p.L343L|SFMBT1_ENST00000358080.2_Silent_p.L343L|SFMBT1_ENST00000296295.6_Silent_p.L343L	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	343					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTGATGTGTAGGCCATTCTTC	0.522000													18	179					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11313296	11313296	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:11313296C>T	ENST00000294618.7	-	42	5336	c.5325G>A	c.(5323-5325)tcG>tcA	p.S1775S	DOCK6_ENST00000586702.1_5'UTR|DOCK6_ENST00000319867.7_Silent_p.S1114S	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1775	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCTTCGTGATCGATGGCTCCT	0.632000													19	251					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254442	155254442	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:155254442T>G	ENST00000357232.4	-	9	1420	c.1421A>C	c.(1420-1422)aAt>aCt	p.N474T	DCHS2_ENST00000339452.1_Missense_Mutation_p.N973T|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGGTTGTCATTGACATCCAT	0.607000													19	105					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153719	5153719	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:5153719G>A	ENST00000252321.3	+	1	635	c.406G>A	c.(406-408)Ggc>Agc	p.G136S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	136						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GACGCAGCTGGGCACCCTGGC	0.677000													14	66					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79432421	79432421	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:79432421A>G	ENST00000554719.1	+	9	1821	c.1330A>G	c.(1330-1332)Atc>Gtc	p.I444V	NRXN3_ENST00000335750.5_Missense_Mutation_p.I444V	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGAAACGGGAATCATGACTGA	0.433000													53	37					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12065806	12065806	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:12065806C>G	ENST00000235329.5	+	15	1856	c.1534C>G	c.(1534-1536)Cag>Gag	p.Q512E	MFN2_ENST00000444836.1_Missense_Mutation_p.Q512E	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	512					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGTGCGGAGTCAGATAGACAT	0.512000													78	287					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25365244	25365244	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:25365244G>C	ENST00000330560.3	+	15	3539	c.3062G>C	c.(3061-3063)aGa>aCa	p.R1021T	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.R1006T	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	1021					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AATGGAGAAAGAAAGCAGTAA	0.453000													6	82					0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45233476	45233476	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:45233476G>A	ENST00000303077.6	-	2	1028	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	237						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCCCAGGGGGCGGCGGGCTG	0.701000													16	140					0	0	1	0	0
IMPDH2	3615	broad.mit.edu	37	3	49063798	49063798	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:49063798C>T	ENST00000326739.4	-	9	1004	c.965G>A	c.(964-966)cGg>cAg	p.R322Q		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	322					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CATGCCCACCCGCAGGGCATC	0.527000													5	47					0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52570184	52570184	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:52570184G>C	ENST00000389534.4	-	7	1410	c.951C>G	c.(949-951)taC>taG	p.Y317*	ZNF841_ENST00000426391.2_Nonsense_Mutation_p.Y201*|ZNF841_ENST00000594295.1_Nonsense_Mutation_p.Y317*|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Nonsense_Mutation_p.Y201*	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						CATCACATTGGTATGGTTTCC	0.418000													6	44					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64939959	64939959	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:64939959T>C	ENST00000377185.2	+	5	481	c.399T>C	c.(397-399)ttT>ttC	p.F133F		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	133	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GTGAGATTTTTCCATGGGCCC	0.557000													13	143					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40814492	40814492	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:40814492G>A	ENST00000396617.3	-	12	2540	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	MKL1_ENST00000402042.1_Silent_p.I600I|MKL1_ENST00000355630.3_Silent_p.I650I|MKL1_ENST00000407029.1_Silent_p.I650I	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	650	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CAACCCCCTTGATGAGGCTGG	0.662000			T	RBM15	acute megakaryocytic leukemia								9	142					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56818365	56818365	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:56818365G>C	ENST00000257287.4	+	2	193	c.69G>C	c.(67-69)caG>caC	p.Q23H	CEP135_ENST00000422247.2_Missense_Mutation_p.Q23H	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	23					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)					GATACCGCCAGACTCTGACAG	0.373000													10	107					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40851688	40851688	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr18:40851688G>C	ENST00000255224.3	-	3	1327	c.959C>G	c.(958-960)tCc>tGc	p.S320C	SYT4_ENST00000590752.1_Missense_Mutation_p.S302C|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	320	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGAAAGTCCGGACACATCAGA	0.423000													13	99					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878129	24878129	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:24878129C>T	ENST00000382554.3	+	4	1447	c.1129C>T	c.(1129-1131)Cta>Tta	p.L377L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	377					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCTGCATTCTCTACATCTGGC	0.602000													11	27					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154920741	154920741	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:154920741G>C	ENST00000368463.3	-	6	582	c.511C>G	c.(511-513)Cag>Gag	p.Q171E	PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000542459.1_Missense_Mutation_p.Q16E|PBXIP1_ENST00000368465.1_Missense_Mutation_p.Q142E|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368460.3_Missense_Mutation_p.Q171E	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	171					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCATGGGCTGAGGTGGGCCG	0.692000													5	13					0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163654	163654	+	RNA	SNP	C	C	T	rs2906362	by1000genomes	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:163654C>T	ENST00000606975.1	-	0	267																											CCTTTAAAGCCTTCACTTTGG	0.483000													6	75					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120996394	120996394	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:120996394G>C	ENST00000392793.1	+	8	1858	c.1587G>C	c.(1585-1587)aaG>aaC	p.K529N	TECTA_ENST00000264037.2_Missense_Mutation_p.K529N			O75443	TECTA_HUMAN	tectorin alpha	529	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCCTCAACAAGACAGACGGCC	0.597000													29	189					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063207	170063207	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:170063207G>C	ENST00000263816.3	-	39	7308	c.7023C>G	c.(7021-7023)gtC>gtG	p.V2341V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2341					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGTTGTTGTTGACCTCTGCTG	0.507000													9	59					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170017810	170017810	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:170017810G>A	ENST00000284637.9	-	12	2868	c.2527C>T	c.(2527-2529)Cag>Tag	p.Q843*		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	843	SH3 4.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GCCTCACTCTGAGGAGGATAG	0.398000													14	86					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35351949	35351949	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:35351949C>G	ENST00000374748.1	-	4	474	c.161G>C	c.(160-162)gGa>gCa	p.G54A	CUL2_ENST00000374742.1_Missense_Mutation_p.G54A|CUL2_ENST00000374749.3_Missense_Mutation_p.G54A|CUL2_ENST00000374751.3_Missense_Mutation_p.G54A|CUL2_ENST00000537177.1_Missense_Mutation_p.G73A|CUL2_ENST00000374746.1_Missense_Mutation_p.G54A|CUL2_ENST00000602371.1_Missense_Mutation_p.E12Q			Q13617	CUL2_HUMAN	cullin 2	54					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAGTCTTTCTCCAAGGGGTTC	0.299000													14	123					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96079823	96079823	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:96079823G>A	ENST00000297954.4	+	29	6649	c.6649G>A	c.(6649-6651)Gtg>Atg	p.V2217M	WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.V1792M|WNK2_ENST00000349097.3_Missense_Mutation_p.V1829M|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.V2180M|WNK2_ENST00000471076.1_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2217					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCGAGCAGGAGTGGGGATGCC	0.657000													33	32					0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112838906	112838906	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:112838906G>A	ENST00000280155.2	+	1	2117	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	369					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	AGAACCGCGAGAAGCGCTTCA	0.721000													11	66					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649719	232649719	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:232649719G>C	ENST00000366630.1	-	2	1725	c.1367C>G	c.(1366-1368)tCc>tGc	p.S456C	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S456C			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	456					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCCAAGACGGAGACACCTGC	0.498000													26	210					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579134	33579134	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:33579134C>G	ENST00000228567.3	-	2	744	c.448G>C	c.(448-450)Gaa>Caa	p.E150Q	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	150						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATTAAATGTTCTTTTAAAGCA	0.398000													34	317					0	0	1	0	0
C19orf48	84798	broad.mit.edu	37	19	51301447	51301447	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:51301447C>T	ENST00000598463.1	-	5	1357	c.259G>A	c.(259-261)Gag>Aag	p.E87K	C19orf48_ENST00000596655.1_Missense_Mutation_p.E87K|C19orf48_ENST00000391812.1_Missense_Mutation_p.E87K|C19orf48_ENST00000345523.4_Missense_Mutation_p.E87K			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	87										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GCCCAGGTCTCACGGTGGCGT	0.642000													16	115					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635996	7635996	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:7635996C>T	ENST00000359156.4	-	12	3257	c.3055G>A	c.(3055-3057)Ggg>Agg	p.G1019R	CD163_ENST00000432237.2_Missense_Mutation_p.G1019R|CD163_ENST00000396620.3_Missense_Mutation_p.G1052R|CD163_ENST00000541972.1_Missense_Mutation_p.G1007R|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1019	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCTTGTGCCCACACTCACTA	0.537000													7	56					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98212205	98212205	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:98212205C>A	ENST00000284049.3	-	23	3444	c.3295G>T	c.(3295-3297)Gat>Tat	p.D1099Y		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1099					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GAATCACTATCAGATCCAGAG	0.408000													9	185					3.07112e-06	3.2206e-06	1	1	0
MLLT6	4302	broad.mit.edu	37	17	36876912	36876912	+	Splice_Site	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:36876912C>G	ENST00000325718.7	+	16	2445	c.2354C>G	c.(2353-2355)gCc>gGc	p.A785G		NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	785					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CCTCCCACAGCCGGCAGCAGC	0.667000			T	MLL	AL								7	111					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43292637	43292637	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:43292637G>T	ENST00000374518.5	+	10	2008	c.1945G>T	c.(1945-1947)Gaa>Taa	p.E649*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAAAGAGGAAGAAGATTACAA	0.388000													6	105					0.0215528	0.0217362	1	1	0
BMS1	9790	broad.mit.edu	37	10	43281092	43281092	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:43281092G>C	ENST00000374518.5	+	3	402	c.339G>C	c.(337-339)gaG>gaC	p.E113D		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGTTGACTGAGATCAGAGGCC	0.507000													26	259					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595183	55595183	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:55595183T>C	ENST00000378397.1	+	1	489	c.489T>C	c.(487-489)gcT>gcC	p.A163A		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CGTCCTTAGCTCTTAGGATCC	0.473000										HNSCC(27;0.073)			23	475					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231060618	231060618	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:231060618C>G	ENST00000366661.4	-	14	1697	c.1690G>C	c.(1690-1692)Gac>Cac	p.D564H	TTC13_ENST00000366662.4_Missense_Mutation_p.D511H|TTC13_ENST00000414259.1_Missense_Mutation_p.D511H	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	564							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCAAACATGTCTCTCCACTGC	0.423000													27	164					0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:56171880A>C	ENST00000450554.2	+	4	1189		c.e4-1		U2AF2_ENST00000308924.4_Splice_Site	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637000													4	22					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58946488	58946488	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:58946488G>A	ENST00000254166.3	-	3	723	c.323C>T	c.(322-324)cCt>cTt	p.P108L		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	108	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CTTGGTGGAAGGATCTGCATT	0.498000													27	210					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19175135	19175135	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:19175135G>T	ENST00000263200.10	-	29	4612	c.4540C>A	c.(4540-4542)Ctg>Atg	p.L1514M	CLTCL1_ENST00000353891.5_Intron|CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000427926.1_Missense_Mutation_p.L1514M	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1514	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCCTTGTACAGATAGGCCGCA	0.542000			T	?	ALCL								15	115					4.14922e-12	4.55261e-12	1	1	0
APBA2	321	broad.mit.edu	37	15	29346684	29346684	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:29346684G>A	ENST00000558402.1	+	5	1196	c.597G>A	c.(595-597)gaG>gaA	p.E199E	APBA2_ENST00000558259.1_Silent_p.E199E|APBA2_ENST00000411764.1_Silent_p.E199E|APBA2_ENST00000558330.1_Silent_p.E199E|APBA2_ENST00000561069.1_Silent_p.E199E			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	199	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ACTACCCCGAGGAGGCCAACG	0.627000													6	23					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76411074	76411074	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:76411074C>G	ENST00000262764.6	+	8	1543	c.1517C>G	c.(1516-1518)aCg>aGg	p.T506R	PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Missense_Mutation_p.T371R	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	506					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GCGATCGTGACGGAGAACCAG	0.632000													9	70					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39308390	39308390	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:39308390G>C	ENST00000263408.4	-	8	1277	c.1182C>G	c.(1180-1182)atC>atG	p.I394M		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	394	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTCCAACAGAGATTTCAGAGA	0.368000													8	166					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133827086	133827086	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:133827086G>C	ENST00000395386.2	+	10	1434	c.1135G>C	c.(1135-1137)Gat>Cat	p.D379H	PHF20L1_ENST00000395390.2_Missense_Mutation_p.D354H|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	379							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ACAAGTCGAGGATTTGACGCT	0.348000													21	167					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274518	39274518	+	Missense_Mutation	SNP	C	C	T	rs9897031	by1000genomes	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:39274518C>T	ENST00000391413.2	-	1	88	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	17	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].			R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563).		keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGAGGTCTCGGCCACAGCC	0.592000													5	69					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29664524	29664524	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:29664524C>G	ENST00000358273.4	+	43	6949	c.6566C>G	c.(6565-6567)cCt>cGt	p.P2189R	NF1_ENST00000356175.3_Missense_Mutation_p.P2168R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2189					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCATTCTCTCCTGGCTCCTAT	0.433000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			17	197					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18737135	18737135	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:18737135T>A	ENST00000513874.1	-	11	1514	c.1375A>T	c.(1375-1377)Atg>Ttg	p.M459L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	459	Ig-like 3.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GTGCCATGCATCAGCAGCTGC	0.537000													12	78					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1080305	1080305	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:1080305G>A	ENST00000313093.2	+	14	1986	c.1755G>A	c.(1753-1755)gcG>gcA	p.A585A	HMHA1_ENST00000539243.2_Silent_p.A601A|HMHA1_ENST00000590214.1_Silent_p.A612A|HMHA1_ENST00000590577.1_Silent_p.A220A|HMHA1_ENST00000586866.1_Silent_p.A589A|HMHA1_ENST00000536472.1_Silent_p.A425A|HMHA1_ENST00000543365.1_Silent_p.A468A	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	585					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GTGATGTGGCGCGGCCGGAGG	0.677000													29	111					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2954983	2954983	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:2954983C>G	ENST00000396946.4	-	21	3130	c.2727G>C	c.(2725-2727)aaG>aaC	p.K909N		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	909					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCGCTTATACTTGTTCTCGG	0.602000			Mis		DLBCL								9	86					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35486362	35486362	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:35486362C>G	ENST00000353139.5	-	47	6354	c.5873G>C	c.(5872-5874)aGa>aCa	p.R1958T	ACACA_ENST00000361253.5_Missense_Mutation_p.R47T|ACACA_ENST00000335166.5_Missense_Mutation_p.R1843T|ACACA_ENST00000360679.3_Missense_Mutation_p.R1863T|ACACA_ENST00000394406.2_Missense_Mutation_p.R1921T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1921	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCGATGATTCTGTCTATAGG	0.478000													7	67					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411319	23411319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrX:23411319G>T	ENST00000379361.4	+	3	2544	c.1684G>T	c.(1684-1686)Gag>Tag	p.E562*		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	562					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTACATATATGAGTCTATAGA	0.403000													9	152					0.000274275	0.000281399	1	1	0
CFHR4	10877	broad.mit.edu	37	1	196876562	196876562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:196876562G>T	ENST00000367416.2	+	5	867	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000608469.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GTCCTACTATGAACTTCAGGG	0.428000													10	94					1.58986e-06	1.68213e-06	1	1	0
USP32	84669	broad.mit.edu	37	17	58372085	58372085	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:58372085C>T	ENST00000300896.4	-	4	564	c.370G>A	c.(370-372)Gat>Aat	p.D124N	USP32_ENST00000393003.3_Missense_Mutation_p.D124N	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	124	EF-hand 1.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACTTTACCATCCACCACGTGG	0.338000													12	100					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136600967	136600967	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:136600967G>T	ENST00000531224.1	-	3	290	c.38C>A	c.(37-39)tCa>tAa	p.S13*	BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.S13*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.S13*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.S13*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.S13*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.S13*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	13					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTAGACTTTGACCTTGAAGA	0.303000													9	75					1.12685e-05	1.17649e-05	1	1	0
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)gaafs	p.E700fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307													7	545	---	---	---	---					
LINC00882	100302640	broad.mit.edu	37	3	106824709	106824709	+	RNA	DEL	C	C	-	rs139188639		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:106824709delC	ENST00000484698.1	-	0	295																											Gtttttatatctttttttttt	0.443													3	6	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36651924	36651925	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:36651924_36651925delAA	ENST00000405375.1	+	2	281_282	c.46_47delAA	c.(46-48)aagfs	p.K16fs	CDKN1A_ENST00000373711.2_Frame_Shift_Del_p.K16fs|CDKN1A_ENST00000448526.2_Frame_Shift_Del_p.K50fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Frame_Shift_Del_p.K16fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	16					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	p.S15fs*15(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						ATGCGGCAGCAAGGCCTGCCGC	0.649													47	24	---	---	---	---					
BEND6	221336	broad.mit.edu	37	6	56882036	56882037	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:56882036_56882037insT	ENST00000370746.3	+	5	820_821	c.551_552insT	c.(550-555)tgtaacfs	p.N185fs	BEND6_ENST00000545789.1_Frame_Shift_Ins_p.N87fs|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	185	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						ATTGCCCGTTGTAACAAGAGCA	0.361													20	30	---	---	---	---					
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269													7	85	---	---	---	---					
PHACTR2	9749	broad.mit.edu	37	6	144081695	144081696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:144081695_144081696insA	ENST00000427704.2	+	5	709_710	c.579_580insA	c.(580-582)aaafs	p.K194fs	PHACTR2_ENST00000305766.6_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.K205fs|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000367582.3_Intron	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	194							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGCCTCCCATTAAAAAAAATAC	0.569													8	251	---	---	---	---					
GS1-124K5.2	0	broad.mit.edu	37	7	65888988	65888988	+	RNA	DEL	T	T	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:65888988delT	ENST00000442578.1	-	0	826																											tttttttttcttttttttttt	0.488													3	2	---	---	---	---					
SMURF1	57154	broad.mit.edu	37	7	98638102	98638103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:98638102_98638103insC	ENST00000361125.1	-	14	1845_1846	c.1526_1527insG	c.(1525-1527)ggcfs	p.G509fs	AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Frame_Shift_Ins_p.G483fs	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	509	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GCACTGTGAAGCCCCCGTTGAT	0.559											OREG0018189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	177	---	---	---	---					
TRPC6	7225	broad.mit.edu	37	11	101341944	101341944	+	Frame_Shift_Del	DEL	T	T	-	rs144927067		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:101341944delT	ENST00000344327.3	-	9	2803	c.2379delA	c.(2377-2379)aaafs	p.K793fs	TRPC6_ENST00000360497.4_Frame_Shift_Del_p.K738fs|TRPC6_ENST00000348423.4_Frame_Shift_Del_p.K677fs|TRPC6_ENST00000532133.1_Frame_Shift_Del_p.K715fs	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	793					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCTGGAAACCTTTTTTATGGC	0.393													7	2377	---	---	---	---					
MMP13	4322	broad.mit.edu	37	11	102825997	102825997	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:102825997delT	ENST00000260302.3	-	2	374	c.346delA	c.(346-348)atgfs	p.M116fs	MMP13_ENST00000340273.4_Frame_Shift_Del_p.M116fs	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	116					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTTAAATTCATTTTGGACCAT	0.343													9	901	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108142128	108142129	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:108142128_108142129insT	ENST00000278616.4	+	20	3457_3458	c.3072_3073insT	c.(3073-3075)tttfs	p.F1025fs	ATM_ENST00000452508.2_Frame_Shift_Ins_p.F1025fs	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1025					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TAATTGGAGCATTTTGGTAGGT	0.381			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			35	250	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49433094	49433094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:49433094delG	ENST00000301067.7	-	33	8276	c.8277delC	c.(8275-8277)cccfs	p.P2759fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCCCCAGGATGGGGCCACTCA	0.602													39	55	---	---	---	---					
OR4N2	390429	broad.mit.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724	by1000genomes	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:20296055_20296056insT	ENST00000315947.1	+	1	448_449	c.448_449insT	c.(448-450)cttfs	p.L150fs	OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.L150fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCTGTGGCTTGGGGGTTTT	0.530													26	242	---	---	---	---					
NFAT5	10725	broad.mit.edu	37	16	69681191	69681191	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:69681191delA	ENST00000349945.1	+	5	1784	c.232delA	c.(232-234)aacfs	p.N78fs	NFAT5_ENST00000567239.1_Frame_Shift_Del_p.N172fs|NFAT5_ENST00000393742.2_Frame_Shift_Del_p.N78fs|NFAT5_ENST00000432919.1_Frame_Shift_Del_p.N172fs|NFAT5_ENST00000354436.2_Frame_Shift_Del_p.N154fs|NFAT5_ENST00000566899.1_Frame_Shift_Del_p.N78fs	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	154	Ser-rich.				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						CTTGCTGGATAACAGTCGGAT	0.502													14	115	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279654	20279655	+	RNA	INS	-	-	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:20279654_20279655insT	ENST00000578315.1	-	0	51_52																											atctgtctctcttttttttttt	0.381													5	3	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34073205	34073206	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:34073205_34073206insG	ENST00000254466.6	-	6	1337_1338	c.1310_1311insC	c.(1309-1311)ccafs	p.P437fs	GAS2L2_ENST00000587565.1_Frame_Shift_Ins_p.P421fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	437					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAGTCTTTGTGGGGTGGGGTT	0.599													8	298	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													8	232	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	T	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													6	8	---	---	---	---					
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393													8	221	---	---	---	---					
CABLES2	81928	broad.mit.edu	37	20	60966489	60966494	+	In_Frame_Del	DEL	CTCCGC	CTCCGC	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr20:60966489_60966494delCTCCGC	ENST00000279101.5	-	9	1115_1120	c.1107_1112delGCGGAG	c.(1105-1113)atgcggagc>atc	p.369_371MRS>I		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	369					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTCCGACAGGCTCCGCATCTCCCGCT	0.636													86	231	---	---	---	---					
RHOXF2	84528	broad.mit.edu	37	X	119293071	119293071	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrX:119293071delA	ENST00000371388.3	+	2	420	c.230delA	c.(229-231)gaafs	p.E77fs		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	77						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						GGCGGAGAAGAAAAAGATGGC	0.607													18	48	---	---	---	---