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
TP53	7157	broad.mit.edu	37	17	7578388	7578388	+	Missense_Mutation	SNP	C	C	T	rs138525931	by1000genomes	TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:7578388C>T	ENST00000420246.2	-	5	674	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TP53_ENST00000413465.2_Missense_Mutation_p.R181H|TP53_ENST00000445888.2_Missense_Mutation_p.R181H|TP53_ENST00000359597.4_Missense_Mutation_p.R181H|TP53_ENST00000269305.4_Missense_Mutation_p.R181H|TP53_ENST00000455263.2_Missense_Mutation_p.R181H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	181	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (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.R181H(21)|p.R181P(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.R181L(3)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R49P(1)|p.C176fs*65(1)|p.R181C(1)|p.V173fs*23(1)|p.R181>XXXXXXX(1)|p.R88P(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(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)		ATCTGAGCAGCGCTCATGGTG	0.637000		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)			28	75					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75355081	75355081	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr9:75355081G>T	ENST00000297784.5	+	9	949	c.409G>T	c.(409-411)Gga>Tga	p.G137*	TMC1_ENST00000340019.3_Nonsense_Mutation_p.G137*|TMC1_ENST00000396237.3_Nonsense_Mutation_p.G137*	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	137	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCTTGGGAAAGGAAAAGGAAA	0.378000													14	107					1.15088e-07	1.28789e-07	1	1	0
KIAA1161	57462	broad.mit.edu	37	9	34371189	34371189	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr9:34371189G>A	ENST00000297625.7	-	2	1876	c.1651C>T	c.(1651-1653)Ccg>Tcg	p.P551S		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	585					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGCATGGCCGGCATAAAGGCG	0.687000													3	26					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57944094	57944094	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr12:57944094T>C	ENST00000455537.2	+	1	314	c.40T>C	c.(40-42)Tgc>Cgc	p.C14R	KIF5A_ENST00000286452.5_Missense_Mutation_p.C14R	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	14	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAAGGTGCTCTGCCGATTCCG	0.597000													5	127					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220342458	220342458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr2:220342458C>T	ENST00000312358.7	+	21	4909	c.4777C>T	c.(4777-4779)Cga>Tga	p.R1593*	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1593					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGAGGACCATCGAGGAAGGAG	0.607000													23	77					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153133891	153133891	+	Silent	SNP	C	C	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:153133891C>T	ENST00000370060.1	-	14	1758	c.1569G>A	c.(1567-1569)ggG>ggA	p.G523G	L1CAM_ENST00000370055.1_Silent_p.G518G|L1CAM_ENST00000370057.3_Silent_p.G523G|L1CAM_ENST00000543994.1_Silent_p.G525G|L1CAM_ENST00000361699.4_Silent_p.G523G|L1CAM_ENST00000361981.3_Silent_p.G518G|L1CAM_ENST00000538883.1_Silent_p.G525G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	523	Ig-like C2-type 6.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGCGGGGCCCCTGAGTGA	0.617000													60	146					0	0	1	0	0
HOXA11	3207	broad.mit.edu	37	7	27224643	27224643	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr7:27224643G>A	ENST00000006015.3	-	1	192	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	41					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GTCATTGGGCGCGAAGACGGG	0.552000			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	40	215					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76875920	76875920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:76875920G>A	ENST00000373344.5	-	20	5429	c.5215C>T	c.(5215-5217)Cga>Tga	p.R1739*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1701*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1739	Helicase ATP-binding.				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.R1739*(1)|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)	CTCCTTGATCGTATAGAATTC	0.323000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						51	43					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)		CTTAGTACCTGAAGGGTGAAA	0.448000		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)			28	93					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4352554	4352554	+	Silent	SNP	C	C	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:4352554C>T	ENST00000355530.2	+	7	1075	c.795C>T	c.(793-795)ctC>ctT	p.L265L	SPNS3_ENST00000333476.2_Silent_p.L138L|SPNS3_ENST00000576069.1_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	265					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GGTCGACCCTCGGAGTGACCG	0.657000													61	157					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15648180	15648180	+	Missense_Mutation	SNP	G	G	A	rs146689227		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr19:15648180G>A	ENST00000269703.2	+	5	575	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	CYP4F22_ENST00000601005.2_Missense_Mutation_p.A126T	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	126						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGCTGCCATCGCCCCCAAGGA	0.507000													37	110					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510354	169510354	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr1:169510354A>G	ENST00000367796.3	-	13	4190	c.3989T>C	c.(3988-3990)cTc>cCc	p.L1330P	F5_ENST00000367797.3_Missense_Mutation_p.L1325P			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1325	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTATGGCTGAGGTCTGGAGA	0.512000													6	541					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	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								47	116					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920410	58920410	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr11:58920410C>A	ENST00000528737.1	+	5	4087	c.1269C>A	c.(1267-1269)aaC>aaA	p.N423K	FAM111A_ENST00000533703.1_Missense_Mutation_p.N423K|FAM111A_ENST00000361723.3_Missense_Mutation_p.N423K|FAM111A_ENST00000531147.1_Missense_Mutation_p.N423K|FAM111A_ENST00000420244.1_Missense_Mutation_p.N423K			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	423					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AGGAAACAAACTACTTTTTTG	0.388000													4	161					0.150653	0.153929	1	1	0
NQO1	1728	broad.mit.edu	37	16	69746992	69746992	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr16:69746992C>G	ENST00000320623.5	-	5	969	c.458G>C	c.(457-459)gGc>gCc	p.G153A	NQO1_ENST00000439109.2_Intron|NQO1_ENST00000379046.2_Missense_Mutation_p.G115A|NQO1_ENST00000379047.3_Intron|NQO1_ENST00000564043.1_Missense_Mutation_p.G132A|NQO1_ENST00000561500.1_Missense_Mutation_p.G115A	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	153					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	GTACATGGAGCCACTGCCACC	0.438000													4	241					0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53747061	53747061	+	Silent	SNP	G	G	A	rs147481361		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr19:53747061G>A	ENST00000333952.4	-	4	270	c.105C>T	c.(103-105)gaC>gaT	p.D35D	ZNF677_ENST00000601828.1_Silent_p.D35D|ZNF677_ENST00000601413.1_Silent_p.D35D|ZNF677_ENST00000599012.1_Silent_p.D35D|ZNF677_ENST00000598806.1_Silent_p.D35D|ZNF677_ENST00000598513.1_Silent_p.D35D|ZNF677_ENST00000594681.1_Silent_p.D35D			Q86XU0	ZN677_HUMAN	zinc finger protein 677	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CCAACATCACGTCCCTGTACA	0.468000													46	122					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38743473	38743473	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr3:38743473G>A	ENST00000449082.2	-	26	4513	c.4514C>T	c.(4513-4515)aCg>aTg	p.T1505M		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1505					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGAATTTTCGTCTTTTCTTC	0.453000													39	124					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353241	133353241	+	Silent	SNP	T	T	C			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr12:133353241T>C	ENST00000204726.3	-	21	4515	c.3957A>G	c.(3955-3957)gaA>gaG	p.E1319E	GOLGA3_ENST00000450791.2_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1319	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGTAGCCCTTCCAGTTCCT	0.587000													6	158					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70639416	70639416	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr6:70639416C>T	ENST00000322773.4	+	6	592	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	164	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCGAGAACTCCGTCCTTTGTT	0.393000													18	112					0	0	1	0	0
RAE1	8480	broad.mit.edu	37	20	55948583	55948583	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr20:55948583C>T	ENST00000395841.2	+	9	1115	c.695C>T	c.(694-696)gCc>gTc	p.A232V	RAE1_ENST00000395840.2_Missense_Mutation_p.A232V|RAE1_ENST00000527947.1_Missense_Mutation_p.A232V|RAE1_ENST00000371242.2_Missense_Mutation_p.A232V	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	232					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	p.A232V(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACTGGTTTTGCCCTGGGAAGT	0.398000													4	164					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132176133	132176133	+	Missense_Mutation	SNP	G	G	A	rs147798392		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr6:132176133G>A	ENST00000360971.2	+	6	705	c.685G>A	c.(685-687)Ggt>Agt	p.G229S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	229	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ACACACTTGGGGTGGACTTCT	0.383000													10	179					0	0	1	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39414020	39414020	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr22:39414020G>A	ENST00000361441.3	+	3	704	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	142					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					GAGTCAGGAAGGGGTCGCTGT	0.592000													4	289					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42876142	42876142	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr13:42876142A>G	ENST00000025301.2	+	8	3435	c.3260A>G	c.(3259-3261)gAt>gGt	p.D1087G		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1087					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CATGTGGAAGATAAACAGAAA	0.423000													17	149					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs117285325	by1000genomes	TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr15:78290635C>T	ENST00000409931.3	-	13	2778	c.2707G>A	c.(2707-2709)Gac>Aac	p.D903N	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	0						intracellular	protein binding|Rab GTPase activator activity	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617000													4	29					0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68660800	68660800	+	Silent	SNP	A	A	G			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_Silent_p.D255D|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	59						Cajal body	adenylate kinase activity|ATP binding|protein binding	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318000													5	248					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr1:158592861G>A	ENST00000368148.3	-	43	6212	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V	SPTA1_ENST00000368147.3_Missense_Mutation_p.A2008V|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2011					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A2011V(6)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCAGAGCGGCATAACGCTC	0.483000													6	568					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166405649	166405649	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr4:166405649A>G	ENST00000402744.4	+	5	1146	c.866A>G	c.(865-867)aAc>aGc	p.N289S		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	289					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTCTTTCAACCCGGCCATG	0.502000													13	474					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59137620	59137620	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr1:59137620G>T	ENST00000472487.1	-	12	1622	c.1583C>A	c.(1582-1584)gCt>gAt	p.A528D	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	528					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CAACTCCTCAGCAGAGAGATG	0.358000													20	71					1.50039e-11	1.76296e-11	1	1	0
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G	rs144345425	by1000genomes	TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478000													5	209					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353247	133353247	+	Silent	SNP	T	T	C			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr12:133353247T>C	ENST00000204726.3	-	21	4509	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E	GOLGA3_ENST00000450791.2_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1317	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCTTCCAGTTCCTTCCTGC	0.567000													4	162					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60499460	60499460	+	Missense_Mutation	SNP	C	C	T	rs1051676		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr20:60499460C>T	ENST00000360469.5	+	11	1785	c.1697C>T	c.(1696-1698)gCg>gTg	p.A566V	CDH4_ENST00000543233.1_Missense_Mutation_p.A492V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	566	Cadherin 4.			A -> V (in Ref. 1; AAA35627 and 4; no nucleotide entry).	adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ATCACCACGGCGGCAGTGCTG	0.612000													12	102					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638954	176638954	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr5:176638954G>T	ENST00000439151.2	+	5	3599	c.3554G>T	c.(3553-3555)tGt>tTt	p.C1185F	NSD1_ENST00000347982.4_Missense_Mutation_p.C916F|NSD1_ENST00000354179.4_Missense_Mutation_p.C916F|NSD1_ENST00000361032.4_Missense_Mutation_p.C1082F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1185					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AACTCTGAGTGTGCCTTTAGG	0.478000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			4	77					0.150653	0.153929	1	1	0
C12orf63	0	broad.mit.edu	37	12	97051791	97051791	+	Silent	SNP	C	C	T	rs114864261	by1000genomes	TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr12:97051791C>T	ENST00000524981.3	+	4	585	c.585C>T	c.(583-585)caC>caT	p.H195H				Q6ZTY8	CL063_HUMAN		169										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATGGATCCACGACTTTGTAT	0.353000													66	139					0	0	1	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246712	43246712	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:43246712G>A	ENST00000307275.3	+	4	833	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	HEXIM2_ENST00000592695.1_Missense_Mutation_p.A133T|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.A133T	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	133					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						AGAGATGTTCGCCAAAGGCCA	0.627000													15	83					0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50436053	50436053	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr19:50436053C>A	ENST00000423777.2	+	3	930	c.553C>A	c.(553-555)Cag>Aag	p.Q185K	ATF5_ENST00000595125.1_Missense_Mutation_p.Q185K|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	185	Interaction with PTP4A1 (By similarity).				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCCGCCACAGCAGCCCCCTCC	0.647000													3	22					1	1	1	1	0
FMR1	2332	broad.mit.edu	37	X	147014240	147014240	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:147014240G>A	ENST00000218200.8	+	9	1067	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	FMR1_ENST00000334557.6_Missense_Mutation_p.E280K|FMR1_ENST00000439526.2_Missense_Mutation_p.E280K|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000370477.1_Missense_Mutation_p.E280K|FMR1_ENST00000370471.3_Missense_Mutation_p.E280K|FMR1_ENST00000370475.4_Missense_Mutation_p.E280K|FMR1_ENST00000370470.1_Missense_Mutation_p.E280K	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	280					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTTTCTCGAATTTGCTGA	0.343000									Fragile X syndrome				6	107					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125674072	125674072	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr9:125674072C>A	ENST00000373659.3	-	2	368	c.280G>T	c.(280-282)Gaa>Taa	p.E94*		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	94	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						CTTTTAACTTCAAGTGCTCCA	0.388000													5	216					2.0095e-06	2.14651e-06	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57768604	57768604	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr20:57768604C>T	ENST00000371030.2	+	1	2530	c.2530C>T	c.(2530-2532)Cca>Tca	p.P844S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	844						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGCAGAGACCCCAGGTGGGCC	0.642000													4	80					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183873553	183873555	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr3:183873553_183873555delTTC	ENST00000313143.3	+	1	378_380	c.130_132delTTC	c.(130-132)del	p.F46del	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_In_Frame_Del_p.F46del|DVL3_ENST00000462665.1_3'UTR	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	46	DIX.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAGCTATAAGTTCTTCTTCAAGT	0.635													7	162	---	---	---	---					
RP11-368M16.3	0	broad.mit.edu	37	7	57698565	57698566	+	RNA	INS	-	-	TGGG			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr7:57698565_57698566insTGGG	ENST00000605139.1	-	0	416																											CACAGGAGACCTGGGCTGCAGG	0.584													2	4	---	---	---	---					
ZNF219	0	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cca>c	p.QPP233del	ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 3; AAH00694).	negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)gaafs	p.E591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													8	315	---	---	---	---