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
EPB41L3	23136	broad.mit.edu	37	18	5398132	5398132	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:5398132G>C	ENST00000341928.2	-	17	2700	c.2360C>G	c.(2359-2361)tCt>tGt	p.S787C	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S787C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S618C|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S92C|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S84C|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	787	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTCCCCAGAAGACTGCTTAGT	0.418000													91	156					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs142836124	by1000genomes	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196																		p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													6	70					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24323222	24323222	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr8:24323222T>C	ENST00000175238.6	+	5	406	c.323T>C	c.(322-324)tTt>tCt	p.F108S	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.F108S|ADAM7_ENST00000441335.2_Missense_Mutation_p.F108S	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	108					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GATCATTGTTTTTACCAAGGA	0.284000													17	24					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr6:32725596C>G	ENST00000435145.2	-	4	772	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													4	14					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186136027	186136027	+	Missense_Mutation	SNP	G	G	A	rs150494959	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr1:186136027G>A	ENST00000271588.4	+	100	15756	c.15527G>A	c.(15526-15528)cGt>cAt	p.R5176H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5176H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5176	EGF-like 2; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R5176H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGTGGTCCGTTGTGGAAGT	0.463000													28	38					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563199	55563199	+	Silent	SNP	A	A	G			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:55563199A>G	ENST00000335605.1	+	1	168	c.168A>G	c.(166-168)aaA>aaG	p.K56K		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTAACCCCAAATTTCACACTC	0.388000													4	76					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49179513	49179513	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:49179513C>T	ENST00000340334.7	-	15	1846	c.1478G>A	c.(1477-1479)gGc>gAc	p.G493D	FOLH1_ENST00000343844.4_Missense_Mutation_p.G200D|FOLH1_ENST00000533034.1_Missense_Mutation_p.G493D|FOLH1_ENST00000256999.2_Missense_Mutation_p.G508D|FOLH1_ENST00000356696.3_Missense_Mutation_p.G508D	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	508	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CCTGGGCATGCCACTGAACTC	0.348000													3	50					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021170	5021170	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr12:5021170C>T	ENST00000382545.3	+	2	1733	c.626C>T	c.(625-627)aCg>aTg	p.T209M	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	209					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACAACACCACGGTCATCTAC	0.542000													32	28					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438508	23438508	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr22:23438508G>A	ENST00000248996.4	+	2	1292	c.626G>A	c.(625-627)cGc>cAc	p.R209H	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	209						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGGTCAGAGCGCAAAAAGTGG	0.562000													4	188					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15537704	15537704	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr21:15537704T>A	ENST00000344577.2	-	6	829	c.804A>T	c.(802-804)caA>caT	p.Q268H	LIPI_ENST00000536861.1_Missense_Mutation_p.Q247H	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	247					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATTTAATGAATTGAATTCCTT	0.299000													26	25					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89624270	89624270	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr10:89624270G>C	ENST00000371953.3	+	1	1401	c.44G>C	c.(43-45)aGa>aCa	p.R15T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	15	Phosphatase tensin-type.		R -> S (in glioma).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.R15I(3)|p.R15fs*23(1)|p.R15K(1)|p.R14fs*26(1)|p.N12fs*6(1)|p.R14_D22del(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)		AACAAAAGGAGATATCAAGAG	0.478000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			3	68					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130294013	130294013	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr9:130294013C>G	ENST00000373312.3	-	2	313	c.100G>C	c.(100-102)Gac>Cac	p.D34H	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.D21H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	34							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCATACTGGTCTTCATAGAAC	0.577000													5	63					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57522851	57522851	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr7:57522851A>G	ENST00000420713.1	+	3	351	c.239A>G	c.(238-240)aAt>aGt	p.N80S		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATAAAGAGAAATGAGATGGTA	0.408000													5	91					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171262117	171262117	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr2:171262117T>C	ENST00000334231.6	+	21	2521	c.2521T>C	c.(2521-2523)Ttt>Ctt	p.F841L	MYO3B_ENST00000408978.4_Missense_Mutation_p.F832L|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.F832L			Q8WXR4	MYO3B_HUMAN	myosin IIIB	832	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGAACTGTGCTTTGGCATTCA	0.418000													4	50					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70293517	70293517	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr13:70293517G>T	ENST00000377844.4	-	9	2758	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M	KLHL1_ENST00000545028.1_Missense_Mutation_p.L474M	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	667					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACATAATCCAGTAGCCGGGAA	0.463000													28	40					1.55811e-20	1.60139e-20	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25440084	25440084	+	RNA	SNP	A	A	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr15:25440084A>C	ENST00000424208.1	+	0	1460				SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						ATGATGAGAAACTTATATTGT	0.522000													6	265					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060901	189060901	+	Silent	SNP	G	G	A	rs147444946	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr4:189060901G>A	ENST00000332517.3	+	1	329	c.189G>A	c.(187-189)ccG>ccA	p.P63P		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	63					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGGAGGGCCCGCATTTCCAGT	0.602000													6	113					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56142778	56142778	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr15:56142778G>A	ENST00000508342.1	-	10	2865	c.2566C>T	c.(2566-2568)Cct>Tct	p.P856S	NEDD4_ENST00000506154.1_Missense_Mutation_p.P840S|NEDD4_ENST00000338963.2_Missense_Mutation_p.P784S|NEDD4_ENST00000435532.3_Missense_Mutation_p.P437S	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	856	Mediates interaction with TNIK (By similarity).|WW 3.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATAAAGAAAGGCCTCCCATTT	0.428000													16	242					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								23	32					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76903174	76903174	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:76903174G>A	ENST00000409709.3	+	31	4275	c.4003G>A	c.(4003-4005)Gcc>Acc	p.A1335T	MYO7A_ENST00000458637.2_Missense_Mutation_p.A1335T|MYO7A_ENST00000409619.2_Missense_Mutation_p.A1324T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1335	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAGCAGGGCGCCCAGGAGCG	0.662000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	16					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136904865	136904865	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr6:136904865G>A	ENST00000359015.4	-	24	3599	c.3239C>T	c.(3238-3240)cCg>cTg	p.P1080L	MAP3K5_ENST00000463140.1_5'UTR|MAP3K5_ENST00000355845.4_Missense_Mutation_p.P327L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1080					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTTAGTTTCGGTTCTTCAGC	0.453000													6	94					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151878079	151878079	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr7:151878079C>T	ENST00000355193.2	-	36	7084	c.6866G>A	c.(6865-6867)cGt>cAt	p.R2289H	KMT2C_ENST00000262189.6_Missense_Mutation_p.R2289H					lysine (K)-specific methyltransferase 2C																		TGGGGAAACACGGCTAAATGT	0.517000													21	71					0	0	1	0	0
BTD	686	broad.mit.edu	37	3	15686469	15686469	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr3:15686469C>T	ENST00000383778.4	+	4	1404	c.1046C>T	c.(1045-1047)cCg>cTg	p.P349L	BTD_ENST00000437172.1_Missense_Mutation_p.P371L|BTD_ENST00000303498.5_Missense_Mutation_p.P369L|BTD_ENST00000449107.1_Missense_Mutation_p.P371L	NM_001281725.1	NP_001268654.1	P43251	BTD_HUMAN	biotinidase	369	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TCAGGCGATCCGTACTGTGAG	0.468000													4	109					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553596	19553596	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr14:19553596G>C	ENST00000409832.3	+	1	232	c.180G>C	c.(178-180)aaG>aaC	p.K60N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	60										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TCAGGAGCAAGATGGGCAAGT	0.612000													10	841					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186380647	186380647	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr4:186380647C>T	ENST00000307588.3	-	6	1169	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	CCDC110_ENST00000393540.3_Missense_Mutation_p.G328D|CCDC110_ENST00000510617.1_Missense_Mutation_p.G365D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	365						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AATATTTTTGCCAGTGATGGG	0.323000													4	124					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330862	39330862	+	Silent	SNP	A	A	G			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr19:39330862A>G	ENST00000221419.5	-	8	1473	c.1107T>C	c.(1105-1107)ccT>ccC	p.P369P	HNRNPL_ENST00000600873.1_Silent_p.P236P	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	369	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.P369P(2)|p.P236P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GTGGTGGGGGAGGGGGTGGGG	0.622000													3	9					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879314	3879314	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:3879314C>T	ENST00000315677.3	-	4	1350	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	DLGAP1_ENST00000515196.2_Missense_Mutation_p.R252Q|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R252Q|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R252Q|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	252					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTTGTTGCTCCGGGAGGCCTT	0.657000													19	35					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5398141	5398141	+	Splice_Site	SNP	G	G	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:5398141G>C	ENST00000341928.2	-	17	2691	c.2351C>G	c.(2350-2352)aCt>aGt	p.T784S	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Splice_Site_p.T784S|EPB41L3_ENST00000544123.1_Splice_Site_p.T615S|EPB41L3_ENST00000542146.1_Splice_Site_p.T89S|EPB41L3_ENST00000427684.2_Splice_Site_p.T81S|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	784	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGACTGCTTAGTCTGAGTGAA	0.433000													85	147					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120277978	120277978	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr1:120277978C>T	ENST00000369407.3	+	6	2109	c.602C>T	c.(601-603)gCc>gTc	p.A201V	PHGDH_ENST00000369409.4_Missense_Mutation_p.A235V			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	235					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GTGAACTGTGCCCGTGGAGGG	0.617000													4	105					0	0	1	0	0
CNOT11	55571	broad.mit.edu	37	2	101874343	101874343	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr2:101874343G>A	ENST00000289382.3	+	2	768	c.605G>A	c.(604-606)cGc>cAc	p.R202H		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		AAGACGCCTCGCCAGATTGCA	0.493000													23	30					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43475409	43475409	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:43475409C>T	ENST00000532038.1	-	9	1217	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R242Q|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R242Q|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R583Q|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R561Q|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R215Q|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R556Q			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	583					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ATCTCGGCTCCGTAGCTGGAG	0.592000													25	26					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													3	65					0	0	1	0	0
LINC00877	285286	broad.mit.edu	37	3	72136648	72136648	+	RNA	DEL	G	G	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr3:72136648delG	ENST00000468646.2	-	0	366					NR_104116.1																						CTGACTACCAGGCCCCGGAGG	0.587													2	4	---	---	---	---					
AZGP1P1	646282	broad.mit.edu	37	7	99578514	99578516	+	RNA	DEL	AGG	AGG	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr7:99578514_99578516delAGG	ENST00000425474.1	+	0	87					NR_036679.1																						GAGGACTGGAAGGAGGTGAGGAA	0.596													9	170	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													4	6	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	17	---	---	---	---					
TRIM3	10612	broad.mit.edu	37	11	6486802	6486804	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:6486802_6486804delAGA	ENST00000525074.1	-	2	516_518	c.122_124delTCT	c.(121-126)ttctgt>tgt	p.F41del	TRIM3_ENST00000537602.1_In_Frame_Del_p.F41del|TRIM3_ENST00000536344.1_Intron|TRIM3_ENST00000345851.3_In_Frame_Del_p.F41del|TRIM3_ENST00000359518.3_In_Frame_Del_p.F41del	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	41					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCTCTCACAGAAGGTGTGCAG	0.596													9	88	---	---	---	---					
RORA	6095	broad.mit.edu	37	15	61521357	61521357	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr15:61521357delC	ENST00000335670.6	-	1	161	c.61delG	c.(61-63)gacfs	p.D21fs		NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	0	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GCGGCCGCGTCCGCGCCGCTG	0.692													2	4	---	---	---	---					
WWP2	11060	broad.mit.edu	37	16	69833165	69833166	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr16:69833165_69833166delCT	ENST00000359154.2	+	4	408_409	c.307_308delCT	c.(307-309)ctcfs	p.L103fs	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000569174.1_Frame_Shift_Del_p.L103fs|WWP2_ENST00000448661.1_Frame_Shift_Del_p.L103fs|WWP2_ENST00000356003.2_Frame_Shift_Del_p.L103fs	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	103					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCTGTCAACCTCTCCAACGTC	0.490											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	47	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579319	7579323	+	Frame_Shift_Del	DEL	GTCAC	GTCAC	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:7579319_7579323delGTCAC	ENST00000420246.2	-	4	496_500	c.364_368delGTGAC	c.(364-369)gtgactfs	p.VT122fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.VT122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.VT122fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.VT122fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	122	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.T123I(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACCGTGCAAGTCACAGACTTGGCT	0.551		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			63	11	---	---	---	---					
TRIM65	201292	broad.mit.edu	37	17	73892940	73892940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:73892940delA	ENST00000269383.3	-	1	144	c.79delT	c.(79-81)tgcfs	p.C27fs		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	27						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGTGGCCGCAGGGCAGCGTC	0.721													2	4	---	---	---	---					
DGKK	139189	broad.mit.edu	37	X	50165596	50165597	+	RNA	DEL	AC	AC	-	rs72026364		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chrX:50165596_50165597delAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TAAAAGGTAAacacacacacac	0.411													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937611	76937615	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chrX:76937611_76937615delCTTTT	ENST00000373344.5	-	9	3347_3351	c.3133_3137delAAAAG	c.(3133-3138)aaaagtfs	p.KS1045fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KS1007fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1045					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)	TATTTTTTTACTTTTCTTTTCTCCA	0.337			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						35	19	---	---	---	---					
