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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CPS1	1373	broad.mit.edu	37	2	211525381	211525381	+	Splice_Site	SNP	T	A	A	rs113036168		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:211525381T>A	uc010fur.3	+	33	4027	c.3945_splice	c.e33+2	p.K1315_splice	CPS1_uc002vee.4_Splice_Site_p.K1309_splice|CPS1_uc010fus.3_Splice_Site_p.K858_splice	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1309					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCAATTAAGGTAACATTTTCA	0.318000														56			38		0	0	0.004289	0	0
MYO6	4646	broad.mit.edu	37	6	76602319	76602319	+	Missense_Mutation	SNP	C	T	T	rs143152727		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:76602319C>T	uc003pih.1	+	27	3298	c.3019C>T	c.(3019-3021)Cgc>Tgc	p.R1007C	MYO6_uc003pig.1_Missense_Mutation_p.R1007C|MYO6_uc003pii.1_Missense_Mutation_p.R1007C|MYO6_uc003pij.1_5'Flank	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	1007	Glu-rich.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGAGCAGGAGCGCAGGGACCG	0.627000														130			6		0	0	0.001168	0	0
WDR11	55717	broad.mit.edu	37	10	122664218	122664218	+	Missense_Mutation	SNP	G	C	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr10:122664218G>C	uc021pzt.1	+	24	3334	c.3088G>C	c.(3088-3090)Gat>Cat	p.D1030H	WDR11_uc010qte.2_Missense_Mutation_p.D632H|WDR11_uc001lfd.1_Missense_Mutation_p.D548H|AX747838_uc001lfe.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	1030						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTATTACTGTGATTCACTGAA	0.418000														109			10		0	0	0.008291	0	0
OTX2	5015	broad.mit.edu	37	14	57270920	57270920	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:57270920C>T	uc001xcq.3	-	3	533	c.259G>A	c.(259-261)Gag>Aag	p.E87K	OTX2_uc001xcp.3_Missense_Mutation_p.E79K|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Missense_Mutation_p.E79K	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	79					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACCCTCGACTCGGGCAAGTTG	0.572000														46			7		0	0	0.001984	0	0
NEDD4	4734	broad.mit.edu	37	15	56134228	56134228	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:56134228T>C	uc002adj.3	-	14	3299	c.2999A>G	c.(2998-3000)aAg>aGg	p.K1000R	NEDD4_uc002adl.3_Missense_Mutation_p.K581R|NEDD4_uc002adi.3_Missense_Mutation_p.K928R|NEDD4_uc010ugj.2_Missense_Mutation_p.K984R|NEDD4_uc010bfm.3_Missense_Mutation_p.K983R|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	1000	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATCCAATCCCTTTTCACCATC	0.433000														113			3		0	0	0.009096	0	0
ATRX	546	broad.mit.edu	37	X	76889172	76889172	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:76889172A>T	uc004ecp.4	-	17	5070	c.4838T>A	c.(4837-4839)tTg>tAg	p.L1613*	ATRX_uc004ecq.4_Nonsense_Mutation_p.L1575*|ATRX_uc004eco.4_Nonsense_Mutation_p.L1398*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1613	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.L1612V(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)	TTTGTCACACAAAAGAACTGT	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							37			14		0	0	0.002450	0	0
TRH	7200	broad.mit.edu	37	3	129695936	129695936	+	Silent	SNP	C	T	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:129695936C>T	uc003enc.3	+	2	1167	c.606C>T	c.(604-606)gcC>gcT	p.A202A		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	202					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCCAGGGAGCCTATGGTCAAG	0.652000														46			11		0	0	0.010729	0	0
KANK2	25959	broad.mit.edu	37	19	11304446	11304446	+	Missense_Mutation	SNP	C	T	T	rs147297854		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:11304446C>T	uc002mqm.3	-	1	389	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	KANK2_uc021upe.1_Missense_Mutation_p.G104S|KANK2_uc002mqo.4_Missense_Mutation_p.G104S|KANK2_uc002mqp.1_5'UTR|KANK2_uc002mqq.3_Missense_Mutation_p.G104S	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	104										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAGCCACGGCCGCAGTAGGAA	0.667000														76			31		0	0	0.004878	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														44			5		0	0	0.000602	0	0
APCS	325	broad.mit.edu	37	1	159557756	159557756	+	Silent	SNP	G	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:159557756G>A	uc001ftv.3	+	0	141	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	15					acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CCAGCCTCCTGGAAGCCTTTG	0.473000														97			16		0	0	0.004990	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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									62			23		0	0	0.003330	0	0
EMR3	84658	broad.mit.edu	37	19	14749062	14749062	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:14749062T>C	uc002mzi.4	-	10	1487	c.1339A>G	c.(1339-1341)Act>Gct	p.T447A	EMR3_uc010dzp.3_Missense_Mutation_p.T395A|EMR3_uc010xnv.2_Missense_Mutation_p.T321A	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	447					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTCCGTGCAGTGAGGAAGAGG	0.572000														60			34		0	0	0.013726	0	0
GPKOW	27238	broad.mit.edu	37	X	48972594	48972594	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:48972594G>A	uc004dmr.3	-	6	1004	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA.	333						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						AGGTGTTTCCGCTTCCTCTCT	0.572000														86			19		0	0	0.010504	0	0
OR51G1	79324	broad.mit.edu	37	11	4944710	4944710	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:4944710G>A	uc010qyr.2	-	0	860	c.860C>T	c.(859-861)cCc>cTc	p.P287L		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287T(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCATAAGGGGTGGTACCAG	0.453000														75			25		0	0	0.006320	0	0
BVES	11149	broad.mit.edu	37	6	105573323	105573323	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:105573323T>C	uc003pqw.3	-	3	639	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	BVES_uc003pqx.3_Missense_Mutation_p.Y161C|BVES_uc003pqy.3_Missense_Mutation_p.Y161C	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	161					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTCTGCAGCATAAGTTTGGCC	0.413000														211			45		0	0	0.014410	0	0
MED15	51586	broad.mit.edu	37	22	20939211	20939211	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr22:20939211G>A	uc002zsp.3	+	14	1953	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I	MED15_uc002zsq.3_Missense_Mutation_p.V585I|MED15_uc010gso.3_Missense_Mutation_p.V568I|MED15_uc002zsr.3_Missense_Mutation_p.V559I|MED15_uc011ahs.2_Missense_Mutation_p.V559I|MED15_uc002zss.3_Missense_Mutation_p.V504I|MED15_uc011ahu.2_Missense_Mutation_p.V335I|MED15_uc002zst.3_Missense_Mutation_p.V241I|MED15_uc002zsu.3_Missense_Mutation_p.V230I	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	625					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCTGGATGCCGTCCTGGCCAA	0.632000														99			52		0	0	0.014410	0	0
RP1L1	94137	broad.mit.edu	37	8	10465064	10465064	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:10465064C>T	uc003wtc.3	-	3	6773	c.6544G>A	c.(6544-6546)Gcc>Acc	p.A2182T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2182					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTCTGGGGCCTCTACACCT	0.612000														364			70		0	0	0.014410	0	0
PDIA6	10130	broad.mit.edu	37	2	10928839	10928839	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:10928839T>C	uc002rau.3	-	9	1120	c.982A>G	c.(982-984)Aaa>Gaa	p.K328E	PDIA6_uc010yjg.2_Missense_Mutation_p.K325E|PDIA6_uc002rav.3_Missense_Mutation_p.K380E|PDIA6_uc010yjh.2_Missense_Mutation_p.K333E|PDIA6_uc002raw.3_Missense_Mutation_p.K376E	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA.	328					cell redox homeostasis|glycerol ether metabolic process|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ATTTTCTTTTTGTATTTGTCT	0.383000														375			82		0	0	0.014410	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50417431	50417431	+	Silent	SNP	C	T	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:50417431C>T	uc003daq.3	-	8	899	c.861G>A	c.(859-861)tcG>tcA	p.S287S	CACNA2D2_uc003dap.3_Silent_p.S287S	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	287					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CTTTGGGTGACGAGGCCCCCT	0.567000														42			31		0	0	0.013726	0	0
EPCAM	4072	broad.mit.edu	37	2	47613720	47613720	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:47613720A>G	uc002rvx.3	+	8	1271	c.913A>G	c.(913-915)Atg>Gtg	p.M305V		NM_002354	NP_002345	P16422	EPCAM_HUMAN	Homo sapiens epithelial cell adhesion molecule (EPCAM), mRNA.	305					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GATAAAGGAGATGGGTGAGAT	0.279000														90			17		0	0	0.004990	0	0
LPL	4023	broad.mit.edu	37	8	19811731	19811731	+	Missense_Mutation	SNP	A	C	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:19811731A>C	uc003wzk.4	+	4	1012	c.642A>C	c.(640-642)agA>agC	p.R214S		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	214					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CATTCACCAGAGGGTCCCCTG	0.488000														140			26		0	0	0.005443	0	0
LTBR	4055	broad.mit.edu	37	12	6494301	6494301	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:6494301C>T	uc001qny.1	+	2	475	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	LTBR_uc010sfc.1_Missense_Mutation_p.P84S|LTBR_uc001qnz.1_Missense_Mutation_p.P98S	NM_002342	NP_002333	P36941	TNR3_HUMAN	Homo sapiens lymphotoxin beta receptor (TNFR superfamily, member 3) (LTBR), mRNA.	103					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GCTGTGCCGCCCCTGTGACCC	0.637000														257			31		0	0	0.004289	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83212	83212	+	Splice_Site	SNP	C	T	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrGL000219.1:83212C>T	uc022brb.1	-	4	454	c.141_splice	c.e4+1	p.K47_splice	LOC283788_uc011mfq.2_Splice_Site					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GTCATCGTTACCTTGATCATT	0.348000														10			3		0	0	0.004672	0	0
ADAM20	8748	broad.mit.edu	37	14	70991445	70991445	+	Silent	SNP	G	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:70991445G>A	uc021rvs.1	-	0	180	c.180C>T	c.(178-180)atC>atT	p.I60I	ADAM20_uc001xme.3_Silent_p.I60I	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	10					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAGTGACCCTGATGTGCACCA	0.522000														76			48		0	0	0.014410	0	0
EYA3	2140	broad.mit.edu	37	1	28339787	28339787	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:28339787T>C	uc001bpi.2	-	8	786	c.604A>G	c.(604-606)Att>Gtt	p.I202V	EYA3_uc010ofs.2_Missense_Mutation_p.I149V|EYA3_uc010oft.2_Missense_Mutation_p.I156V|EYA3_uc001bpj.3_Missense_Mutation_p.I156V|EYA3_uc001bpk.2_Non-coding_Transcript|EYA3_uc010ofu.2_Non-coding_Transcript	NM_001990	NP_001981	Q99504	EYA3_HUMAN	Homo sapiens eyes absent homolog 3 (Drosophila) (EYA3), mRNA.	202					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGACCAAGAATAGTATAGGTG	0.453000														113			17		0	0	0.007413	0	0
ASTN2	23245	broad.mit.edu	37	9	119770407	119770407	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:119770407T>C	uc004bjt.2	-	5	1503	c.1402A>G	c.(1402-1404)Aca>Gca	p.T468A	ASTN2_uc022bml.1_Missense_Mutation_p.T168A|ASTN2_uc022bmm.1_Missense_Mutation_p.T168A	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	519						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGGCATCTGTCGTCCTTTGT	0.577000														99			3		0	0	0.004672	0	0
MTO1	25821	broad.mit.edu	37	6	74183326	74183326	+	Silent	SNP	G	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:74183326G>A	uc010kav.3	+	3	898	c.774G>A	c.(772-774)ccG>ccA	p.P258P	MTO1_uc003pgy.4_Silent_p.P258P|MTO1_uc003pgz.4_Silent_p.P258P|MTO1_uc003pha.4_Intron|MTO1_uc003phb.4_Silent_p.P184P	NM_001123226	NP_001116698	Q9Y2Z2	MTO1_HUMAN	Homo sapiens mitochondrial translation optimization 1 homolog (S. cerevisiae) (MTO1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	258					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						AGCATATACCGGACAATCCAT	0.423000														45			27		0	0	0.006320	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4445912	4445912	+	Splice_Site	SNP	G	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:4445912G>A	uc002fxz.4	-	21	3080	c.3018_splice	c.e21+1	p.P1006_splice	MYBBP1A_uc002fyb.4_Splice_Site_p.P1006_splice|MYBBP1A_uc002fya.4_5'Flank|MYBBP1A_uc010vsa.2_Splice_Site_p.P48_splice	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1006					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AACACTCACCGGGTGCCGGGA	0.637000														88			17		0	0	0.004990	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147050	26147050	+	Silent	SNP	T	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:26147050T>A	uc002dof.3	+	1	1244	c.852T>A	c.(850-852)atT>atA	p.I284I		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	284					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCAAACTGATTGTGGTGGTGA	0.502000														169			28		0	0	0.005524	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723708	7723708	+	Missense_Mutation	SNP	C	G	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:7723708C>G	uc001aoi.3	+	8	1308	c.1101C>G	c.(1099-1101)aaC>aaG	p.N367K		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGGGCTCAACAGCGACCCGG	0.647000			T	WWTR1	epitheliod hemangioendothelioma									76			34		0	0	0.003755	0	0
VPS13B	157680	broad.mit.edu	37	8	100454689	100454689	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:100454689A>G	uc003yiv.3	+	22	3382	c.3271A>G	c.(3271-3273)Att>Gtt	p.I1091V	VPS13B_uc003yiw.3_Missense_Mutation_p.I1091V|VPS13B_uc003yiu.1_Missense_Mutation_p.I1091V|VPS13B_uc003yix.1_Missense_Mutation_p.I561V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1091					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCAAGTACAATTGTATCTGG	0.388000														81			9		0	0	0.010729	0	0
XIAP	331	broad.mit.edu	37	X	123020096	123020096	+	Missense_Mutation	SNP	G	C	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:123020096G>C	uc010nqu.3	+	1	710	c.584G>C	c.(583-585)gGt>gCt	p.G195A	XIAP_uc004etx.3_Missense_Mutation_p.G195A|XIAP_uc010nqv.3_Intron	NM_001204401	NP_001191330	P98170	XIAP_HUMAN	Homo sapiens X-linked inhibitor of apoptosis (XIAP), transcript variant 2, mRNA.	195					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ACAGGTATTGGTGACCAAGTG	0.458000									X-linked Lymphoproliferative syndrome					112			14		0	0	0.002450	0	0
HDAC6	10013	broad.mit.edu	37	X	48682404	48682404	+	Missense_Mutation	SNP	G	T	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:48682404G>T	uc011mmi.1	+	26	3471	c.3376G>T	c.(3376-3378)Ggc>Tgc	p.G1126C	HDAC6_uc004dks.1_Missense_Mutation_p.G1126C|HDAC6_uc010nig.1_Missense_Mutation_p.G974C|HDAC6_uc004dkt.1_Missense_Mutation_p.G1126C|HDAC6_uc011mmk.1_Missense_Mutation_p.G1107C|HDAC6_uc004dkv.1_Missense_Mutation_p.G774C|HDAC6_uc004dkw.1_Missense_Mutation_p.G774C|HDAC6_uc004dkx.1_Missense_Mutation_p.G489C	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	1126					Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	ACCTGCAGCAGGCCTAGACGT	0.542000														65			30		1.2476e-16	6.19839e-16	0.006320	1	0
THSD7B	80731	broad.mit.edu	37	2	138425373	138425373	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:138425373G>A	uc002tva.1	+	25	4591	c.4591G>A	c.(4591-4593)Gtt>Att	p.V1531I		NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTTATGGCGTTTCAGGTGG	0.343000														29			6		0	0	0.003080	0	0
MS4A1	931	broad.mit.edu	37	11	60230557	60230557	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:60230557G>A	uc009yna.3	+	2	569	c.242G>A	c.(241-243)tGt>tAt	p.C81Y	MS4A1_uc009ymy.1_Missense_Mutation_p.C81Y|MS4A1_uc009ymz.3_Missense_Mutation_p.C81Y|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Missense_Mutation_p.C81Y|MS4A1_uc001npq.3_Missense_Mutation_p.C81Y	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	81					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GCACCCATCTGTGTGACTGTG	0.502000														158			21		0	0	0.005443	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424364	69424364	+	Missense_Mutation	SNP	T	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:69424364T>A	uc004dxx.1	+	5	954	c.857T>A	c.(856-858)gTt>gAt	p.V286D		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	286					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						ATTACCACTGTTGGTGAGCTT	0.502000														92			18		0	0	0.007413	0	0
OBSCN	84033	broad.mit.edu	37	1	228504445	228504445	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:228504445G>A	uc009xez.1	+	50	13365	c.13321G>A	c.(13321-13323)Gcg>Acg	p.A4441T	OBSCN_uc001hsn.3_Missense_Mutation_p.A4441T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4441	Ig-like 46.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTGAAAAACGCGGCGGTCCG	0.672000														28			5		0	0	0.001984	0	0
CACNG7	59284	broad.mit.edu	37	19	54445512	54445512	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:54445512C>T	uc002qcr.2	+	4	888	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S		NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	265				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CATCAAGTACCCGGACCACCT	0.682000														166			8		0	0	0.008291	0	0
GPR174	84636	broad.mit.edu	37	X	78427488	78427488	+	Missense_Mutation	SNP	G	C	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:78427488G>C	uc004edg.1	+	0	1020	c.984G>C	c.(982-984)atG>atC	p.M328I		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	328						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTTCCACCATGACACCTGAAT	0.413000										HNSCC(63;0.18)				87			10		0	0	0.008291	0	0
BEND2	139105	broad.mit.edu	37	X	18189326	18189326	+	Splice_Site	SNP	T	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:18189326T>A	uc004cyj.4	-	13	2136	c.1982_splice	c.e13-1	p.S661_splice	BEND2_uc010nfb.2_Intron	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	661										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CAAAATAGCCTAGAAGCAAAA	0.358000														67			17		0	0	0.004990	0	0
ANO2	57101	broad.mit.edu	37	12	5687543	5687543	+	Missense_Mutation	SNP	G	T	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:5687543G>T	uc001qnm.2	-	21	2447	c.2375C>A	c.(2374-2376)aCc>aAc	p.T792N		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	797						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GATATCTTTGGTTCTTACAGC	0.552000														90			18		1.87028e-06	9.14685e-06	0.012319	1	0
RPS6KA6	27330	broad.mit.edu	37	X	83403057	83403057	+	Silent	SNP	A	G	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:83403057A>G	uc004eej.2	-	3	369	c.333T>C	c.(331-333)tcT>tcC	p.S111S	RPS6KA6_uc011mqt.2_Silent_p.S111S|RPS6KA6_uc011mqu.2_Silent_p.S8S|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	111	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.A110fs*3(1)|p.S111F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACCTTTTAAAGAGGCTTTTT	0.303000														25			16		0	0	0.004007	0	0
PIBF1	10464	broad.mit.edu	37	13	73505357	73505357	+	Silent	SNP	A	G	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:73505357A>G	uc001vjc.3	+	13	2090	c.1785A>G	c.(1783-1785)ttA>ttG	p.L595L	PIBF1_uc001vjb.3_Silent_p.L595L|PIBF1_uc010aep.3_Silent_p.L54L	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	595						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CGCTGATTTTAAAAGATCTGG	0.318000														56			13		0	0	0.003163	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)				7			22		0	0	0.010504	0	0
FGD4	121512	broad.mit.edu	37	12	32791723	32791723	+	Silent	SNP	C	G	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:32791723C>G	uc010ske.2	+	15	2457	c.2373C>G	c.(2371-2373)gcC>gcG	p.A791A	FGD4_uc001rlc.3_Silent_p.A764A|FGD4_uc001rky.3_Silent_p.A431A|FGD4_uc001rkz.3_Silent_p.A679A|FGD4_uc001rla.3_Silent_p.A335A|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	679					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGTATGGTGCCCCCCAGGTAT	0.502000														67			16		0	0	0.004990	0	0
OSTF1	26578	broad.mit.edu	37	9	77752522	77752522	+	Silent	SNP	T	G	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:77752522T>G	uc004ajx.4	+	7	594	c.486T>G	c.(484-486)ctT>ctG	p.L162L	OSTF1_uc004ajv.4_Silent_p.L159L	NM_012383	NP_036515	Q92882	OSTF1_HUMAN	Homo sapiens osteoclast stimulating factor 1 (OSTF1), mRNA.	159					ossification|signal transduction	cytoplasm	identical protein binding			endometrium(1)|skin(1)	2						TCCAGTTGCTTCTGGCAAAAG	0.388000														37			27		0	0	0.005443	0	0
SHC1	6464	broad.mit.edu	37	1	154942867	154942867	+	Missense_Mutation	SNP	G	C	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:154942867G>C	uc001ffv.3	-	0	357	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	SHC1_uc001ffw.3_Missense_Mutation_p.L46V|SHC1_uc001ffx.3_Intron|SHC1_uc001ffy.3_Intron|SHC1_uc001ffz.1_5'Flank	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	46					Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGAGGAGGCAGGATGGGCCCC	0.662000														33			19		0	0	0.008871	0	0
P2RX3	5024	broad.mit.edu	37	11	57135524	57135524	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:57135524G>A	uc001nju.3	+	8	1068	c.884G>A	c.(883-885)cGc>cAc	p.R295H		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	295					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.R295C(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AGTGAGTACCGCACCCTCCTG	0.577000														99			5		0	0	0.001168	0	0
QKI	9444	broad.mit.edu	37	6	163984476	163984476	+	Missense_Mutation	SNP	C	G	G			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:163984476C>G	uc003qui.3	+	5	1210	c.659C>G	c.(658-660)gCa>gGa	p.A220G	QKI_uc003quj.3_Splice_Site_p.P212_splice|QKI_uc003quh.3_Splice_Site_p.P212_splice|QKI_uc003que.3_Missense_Mutation_p.A220G|QKI_uc003quf.3_Missense_Mutation_p.A220G|QKI_uc003qug.3_Missense_Mutation_p.A220G	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	220					RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TCTCTTGCAGCAACAGCCCAG	0.507000														46			8		0	0	0.003080	0	0
SMARCC2	6601	broad.mit.edu	37	12	56565546	56565546	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:56565546C>T	uc001skb.3	-	19	2115	c.2009G>A	c.(2008-2010)gGc>gAc	p.G670D	SMARCC2_uc001skd.3_Missense_Mutation_p.G701D|SMARCC2_uc001ska.3_Missense_Mutation_p.G701D|SMARCC2_uc001skc.3_Missense_Mutation_p.G700D|SMARCC2_uc010sqf.2_Missense_Mutation_p.G590D	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	670					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACAGGGTTGCCCGACTGACT	0.587000														133			4		0	0	0.009096	0	0
RYR1	6261	broad.mit.edu	37	19	38958451	38958451	+	Splice_Site	SNP	G	A	A			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:38958451G>A	uc002oit.3	+	25	3511	c.3381_splice	c.e25+1	p.R1127_splice	RYR1_uc002oiu.3_Splice_Site_p.R1127_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1127	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AATGGGCACCGCGTGGGTACC	0.637000														44			7		0	0	0.001984	0	0
TFAP2E	339488	broad.mit.edu	37	1	36039564	36039565	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:36039564_36039565insC	uc010ohy.2	+	1	272_273	c.64_65insC	c.(64-66)gccfs	p.A22fs	PSMB2_uc001bzd.2_3'UTR	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	Homo sapiens transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) (TFAP2E), mRNA.	22	Gln/Pro-rich (transactivation domain).					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGCCGGCGGGGCCCGCCTGTCG	0.733													---	5	---	---	4	---					
PPP1R10	5514	broad.mit.edu	37	6	30576891	30576891	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:30576891delT	uc003nqn.1	-	3	709	c.157delA	c.(157-159)attfs	p.I53fs	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	53	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCAGGAGAATGTTCAAGTAA	0.468													---	85	---	---	41	---					
