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
LRRIQ1	84125	broad.mit.edu	37	12	85518292	85518292	+	Silent	SNP	A	A	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:85518292A>G	ENST00000393217.2	+	17	4063	c.4002A>G	c.(4000-4002)gaA>gaG	p.E1334E		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1334										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGCCTAGTGAAAAAATGTAAG	0.323000													50	93					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135180442	135180442	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:135180442C>G	ENST00000409645.1	+	14	1998	c.1746C>G	c.(1744-1746)aaC>aaG	p.N582K	MGAT5_ENST00000281923.2_Missense_Mutation_p.N582K			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	582					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTGACCTCAACAATCAGGAGG	0.448000													16	76					0	0	1	0	0
POLR2C	5432	broad.mit.edu	37	16	57504925	57504925	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:57504925C>G	ENST00000219252.5	+	9	1060	c.722C>G	c.(721-723)cCt>cGt	p.P241R		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	241					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						TCTCTGCGTCCTGAAACCATT	0.512000													6	108					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50655245	50655245	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr14:50655245A>C	ENST00000216373.5	-	5	958	c.684T>G	c.(682-684)ttT>ttG	p.F228L	SOS2_ENST00000543680.1_Missense_Mutation_p.F228L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	228	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TATCAGAAAGAAAGGCTTCTC	0.338000													11	56					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199044	118199044	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:118199044C>T	ENST00000425217.1	-	4	725	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	KSR2_ENST00000339824.5_Missense_Mutation_p.R253Q	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	253	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCCGCTGCCGGGGCGATGG	0.716000													83	102					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413638	179413638	+	Silent	SNP	G	G	A	rs140576051	by1000genomes	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:179413638G>A	ENST00000589042.1	-	339	92939	c.92715C>T	c.(92713-92715)ggC>ggT	p.G30905G	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.G21840G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.G29264G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.G21965G|TTN_ENST00000342992.6_Silent_p.G28337G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Silent_p.G22032G|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29264	Fibronectin type-III 125.						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)			CACAGCTGTCGCCTTTTCCAG	0.423000													21	77					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54784174	54784174	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:54784174C>T	ENST00000218436.6	-	8	2362	c.2333G>A	c.(2332-2334)tGt>tAt	p.C778Y		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	778	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TGGAGTAACACATTTCACAGT	0.537000													29	113					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183593668	183593668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:183593668C>T	ENST00000264065.6	+	7	995	c.580C>T	c.(580-582)Cga>Tga	p.R194*	DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.R194*	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	194	Thioredoxin 1.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATGCTTTGCCGAATGAAAGG	0.378000													17	94					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5461892	5461892	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr4:5461892C>G	ENST00000282908.5	+	9	1268	c.846C>G	c.(844-846)taC>taG	p.Y282*	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Nonsense_Mutation_p.Y205*|STK32B_ENST00000510398.1_Nonsense_Mutation_p.Y235*	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	282	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GCGTGCCCTACTTGGCCGACA	0.562000											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	120					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28414006	28414006	+	Silent	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr10:28414006C>T	ENST00000337532.5	-	8	738	c.462G>A	c.(460-462)aaG>aaA	p.K154K	MPP7_ENST00000375732.1_Silent_p.K154K|MPP7_ENST00000445954.2_Silent_p.K29K|MPP7_ENST00000540098.1_Silent_p.K154K|MPP7_ENST00000375719.3_Silent_p.K154K|MPP7_ENST00000481244.1_5'UTR	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	154	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTTCATCCTTCTTAATGGTAG	0.403000													7	114					0	0	1	0	0
TBC1D3P2	0	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967																				breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													3	25					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815630	23815630	+	Silent	SNP	T	T	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr4:23815630T>C	ENST00000264867.2	-	8	1595	c.1476A>G	c.(1474-1476)gaA>gaG	p.E492E	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	492					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGGAGAATTGTTCATTACTGA	0.458000													30	112					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2122981	2122981	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:2122981A>C	ENST00000219476.3	+	21	2982	c.2352A>C	c.(2350-2352)aaA>aaC	p.K784N	TSC2_ENST00000350773.4_Missense_Mutation_p.K784N|TSC2_ENST00000353929.4_Missense_Mutation_p.K784N|TSC2_ENST00000568454.1_Missense_Mutation_p.K795N|TSC2_ENST00000382538.6_Missense_Mutation_p.K735N|TSC2_ENST00000439673.2_Missense_Mutation_p.K747N|TSC2_ENST00000401874.2_Missense_Mutation_p.K784N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	784					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACAAAACCAAACAGGTAGGAG	0.547000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				12	45					0	0	1	0	0
TBC1D3P2	0	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C	rs76635225		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956																				breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488000													3	31					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			12	66					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	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			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								21	73					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	G	T	rs137852790		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:7578475G>T	ENST00000420246.2	-	5	587	c.455C>A	c.(454-456)cCg>cAg	p.P152Q	TP53_ENST00000445888.2_Missense_Mutation_p.P152Q|TP53_ENST00000413465.2_Missense_Mutation_p.P152Q|TP53_ENST00000359597.4_Missense_Mutation_p.P152Q|TP53_ENST00000455263.2_Missense_Mutation_p.P152Q|TP53_ENST00000269305.4_Missense_Mutation_p.P152Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(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)		GGTGCCGGGCGGGGGTGTGGA	0.612000		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)			19	59					2.94398e-08	3.04728e-08	1	1	0
AC093838.4	0	broad.mit.edu	37	2	132256505	132256505	+	RNA	SNP	A	A	C	rs3817572	by1000genomes	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:132256505A>C	ENST00000438378.2	+	0	478					NR_026922.1																						TGATTAAAGTAATTGAGGATT	0.388000													4	73					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76877199	76877199	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr11:76877199T>A	ENST00000409709.3	+	15	2060	c.1788T>A	c.(1786-1788)gaT>gaA	p.D596E	MYO7A_ENST00000409619.2_Missense_Mutation_p.D585E|MYO7A_ENST00000458637.2_Missense_Mutation_p.D596E|MYO7A_ENST00000409893.1_Missense_Mutation_p.D596E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	596	Myosin head-like.				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						TCCAGGCCGATGTCGCCATGG	0.587000													12	38					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970909	101970909	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:101970909A>G	ENST00000543253.1	+	5	2031	c.1112A>G	c.(1111-1113)gAc>gGc	p.D371G	GPRASP2_ENST00000332262.5_Missense_Mutation_p.D371G|GPRASP2_ENST00000535209.1_Missense_Mutation_p.D371G	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AAAGATGTTGACAGTGATAGG	0.483000													14	85					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134752146	134752146	+	Silent	SNP	G	G	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr10:134752146G>A	ENST00000368586.5	-	5	583	c.483C>T	c.(481-483)aaC>aaT	p.N161N	TTC40_ENST00000368582.2_Silent_p.N161N|TTC40_ENST00000368585.3_Silent_p.N161N	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GACTCAGCACGTTTATGATTT	0.577000													33	71					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070216	114070216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr3:114070216G>A	ENST00000462705.1	-	11	1311	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	ZBTB20_ENST00000464560.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000474710.1_Nonsense_Mutation_p.Q237*|ZBTB20_ENST00000393785.2_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000481632.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000357258.3_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000471418.1_Nonsense_Mutation_p.Q164*	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	237	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACGCTGTGCTGTGGGTGGCTC	0.657000													33	85					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	122012481	122012481	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:122012481A>C	ENST00000377069.4	-	4	681	c.275T>G	c.(274-276)tTc>tGc	p.F92C	KDM2B_ENST00000536437.1_Missense_Mutation_p.F6C|KDM2B_ENST00000377071.4_Missense_Mutation_p.F123C|KDM2B_ENST00000538046.2_Missense_Mutation_p.F123C	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	123					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGGACTGTGAAATCAGGGTC	0.567000													31	81					0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72832811	72832811	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:72832811C>G	ENST00000335464.5	+	10	1638	c.1476C>G	c.(1474-1476)agC>agG	p.S492R	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.S492R|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	492						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TCATCCTCAGCGAGACCAAGC	0.602000													14	41					0	0	1	0	0
DERL3	91319	broad.mit.edu	37	22	24179853	24179853	+	Silent	SNP	G	G	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr22:24179853G>A	ENST00000406855.3	-	5	534	c.516C>T	c.(514-516)gaC>gaT	p.D172D	DERL3_ENST00000404056.1_Intron|DERL3_ENST00000318109.7_Silent_p.D172D|DERL3_ENST00000476077.1_Silent_p.D172D	NM_001002862.2|NM_001135751.1|NM_198440.3	NP_001002862.1|NP_001129223.1|NP_940842.2	Q96Q80	DERL3_HUMAN	derlin 3	172					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						CACCCAGCAGGTCCACGAGGA	0.642000													8	30					0	0	1	0	0
RAB33A	9363	broad.mit.edu	37	X	129318702	129318702	+	Silent	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:129318702C>G	ENST00000257017.4	+	2	1116	c.702C>G	c.(700-702)tcC>tcG	p.S234S		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	234					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GTAAAACTTCCTGTCCTTGTT	0.438000													5	55					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													2	30					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	72					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121790075	121790075	+	Silent	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:121790075C>G	ENST00000261819.3	-	1	190	c.69G>C	c.(67-69)gtG>gtC	p.V23V	ANAPC5_ENST00000541887.1_Silent_p.V23V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	23					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGATGCCGAACACATTGGCGT	0.632000													17	84					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75685524	75685524	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:75685524A>G	ENST00000370855.5	-	15	1252	c.1139T>C	c.(1138-1140)tTg>tCg	p.L380S	SLC44A5_ENST00000535611.1_Missense_Mutation_p.L250S|SLC44A5_ENST00000370859.3_Missense_Mutation_p.L380S	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	380						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GATTGAGAGCAAAATGAAAGT	0.368000													7	35					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995062	140995062	+	Silent	SNP	T	T	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:140995062T>C	ENST00000285879.4	+	4	2158	c.1872T>C	c.(1870-1872)tcT>tcC	p.S624S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	624							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTCTTCTCTCCAGAGCC	0.567000										HNSCC(15;0.026)			142	401					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81209521	81209521	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr14:81209521G>C	ENST00000555265.1	-	19	3079	c.2704C>G	c.(2704-2706)Ctc>Gtc	p.L902V	CEP128_ENST00000281129.3_Missense_Mutation_p.L902V			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	902						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AAATTCCTGAGTTGTTGTCTG	0.418000													35	53					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57741426	57741426	+	Missense_Mutation	SNP	G	G	A	rs114224823	byFrequency	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:57741426G>A	ENST00000360716.3	+	8	1134	c.913G>A	c.(913-915)Gtc>Atc	p.V305I	CCDC135_ENST00000394337.4_Missense_Mutation_p.V305I|CCDC135_ENST00000336825.8_Missense_Mutation_p.V240I			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	305						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCACTCCTGGGTCCTTGTGCT	0.592000													4	64					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967933	161967933	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:161967933C>T	ENST00000294794.3	-	6	1579	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A387T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	386										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCATGGTTGGCGATGCTGGGA	0.612000													46	157					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77093225	77093225	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:77093225A>T	ENST00000328299.3	+	4	860	c.712A>T	c.(712-714)Ata>Tta	p.I238L		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	238					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTACGGGATGATAAATGACAC	0.413000													36	148					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20492162	20492162	+	Silent	SNP	G	G	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:20492162G>A	ENST00000573854.1	+	12	1542	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	ACSM2A_ENST00000396104.2_Silent_p.S476S|ACSM2A_ENST00000417235.2_Silent_p.S397S|ACSM2A_ENST00000575690.1_Silent_p.S476S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Silent_p.S476S|ACSM2A_ENST00000536134.1_Silent_p.S248S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	476					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGGACCCTCGGAGGTAGAGA	0.567000													23	95					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67578714	67578714	+	Silent	SNP	G	G	A	rs146173403		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:67578714G>A	ENST00000540839.3	+	17	3127	c.2907G>A	c.(2905-2907)ccG>ccA	p.P969P	FAM65A_ENST00000042381.4_Silent_p.P950P|FAM65A_ENST00000428437.2_Silent_p.P964P|FAM65A_ENST00000422602.2_Silent_p.P970P|FAM65A_ENST00000379312.3_Silent_p.P954P			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	954						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGGAGATCCCGGCCAGCTCTG	0.652000													31	99					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132063	59132063	+	Silent	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr11:59132063C>T	ENST00000313940.2	+	1	179	c.132C>T	c.(130-132)ctC>ctT	p.L44L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CCTGGAACCTCTCCCTCATTG	0.428000													49	182					0	0	1	0	0
SERPINA13P	0	broad.mit.edu	37	14	95107273	95107273	+	RNA	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr14:95107273C>G	ENST00000469935.1	+	0	212					NR_015340.1																						CCATGAGTCACCTCCTGGCCC	0.567000													2	10					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76890195	76890195	+	Splice_Site	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:76890195C>G	ENST00000373344.5	-	17	4914		c.e17-1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	AACTGAACACCTAAAAATAAC	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						35	128					0	0	1	0	0
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs78912196		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acfs	p.T144fs	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269													8	91	---	---	---	---