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
MYLK	4638	broad.mit.edu	37	3	123444812	123444812	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:123444812G>A	uc003ego.3	-	11	1912	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MYLK_uc011bjw.2_Missense_Mutation_p.R544W|MYLK_uc003egp.3_Missense_Mutation_p.R475W|MYLK_uc003egq.3_Missense_Mutation_p.R544W|MYLK_uc003egr.3_Missense_Mutation_p.R475W|MYLK_uc003egs.3_Missense_Mutation_p.R368W	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	544	Ig-like C2-type 4.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAAGTGATCCGGGGCACTGGG	0.617000													12	19					0	0	0.411799	0	0
ZNF630	57232	broad.mit.edu	37	X	47920207	47920207	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:47920207C>A	uc004div.4	-	2	385	c.133G>T	c.(133-135)Gtc>Ttc	p.V45F	ZNF630_uc010nhz.1_Non-coding_Transcript|ZNF630_uc022bvr.1_Missense_Mutation_p.V31F|ZNF630_uc022bvs.1_Missense_Mutation_p.V45F	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CCCACGGAGACCAGGTGATTA	0.483000													7	4					0.00198382	0.00208059	0.248553	1	0
CDK10	8558	broad.mit.edu	37	16	89753130	89753130	+	Silent	SNP	A	A	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr16:89753130A>T	uc010cio.3	+	0	55	c.12A>T	c.(10-12)ccA>ccT	p.P4P	BC031657_uc002fnz.4_5'Flank|CDK10_uc002foa.2_Silent_p.P4P|CDK10_uc010cip.2_5'UTR|CDK10_uc010vpl.1_Silent_p.P4P|CDK10_uc002fob.2_5'UTR|CDK10_uc002fod.3_5'UTR|CDK10_uc002foe.3_5'UTR|CDK10_uc002fof.3_5'UTR|CDK10_uc002fog.4_5'UTR|CDK10_uc002foh.4_5'UTR	NM_052988	NP_001153839	Q15131	CDK10_HUMAN	Homo sapiens cyclin-dependent kinase 10 (CDK10), transcript variant a, mRNA.	4					negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGGCGGAGCCAGATCTGGAGT	0.697000													3	6					0	0	0.115264	0	0
MAPRE2	10982	broad.mit.edu	37	18	32677539	32677539	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr18:32677539G>T	uc002kyg.3	+	2	560	c.380G>T	c.(379-381)cGa>cTa	p.R127L	MAPRE2_uc010xcb.2_Missense_Mutation_p.R84L|MAPRE2_uc010xcc.2_Missense_Mutation_p.R115L|MAPRE2_uc002kyf.2_Missense_Mutation_p.R127L|MAPRE2_uc002kyh.3_Missense_Mutation_p.R74L|MAPRE2_uc010xcd.2_Missense_Mutation_p.R84L	NM_014268	NP_001137298	Q15555	MARE2_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 2 (MAPRE2), transcript variant 1, mRNA.	127	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCATTTAAGCGAATGAACGTT	0.343000													7	33					6.5536e-12	7.61635e-12	0.278610	1	0
COL22A1	169044	broad.mit.edu	37	8	139636001	139636001	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr8:139636001C>T	uc003yvd.3	-	51	4192	c.3745G>A	c.(3745-3747)Gga>Aga	p.G1249R	COL22A1_uc011ljo.2_Missense_Mutation_p.G529R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1249	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCGGCTTTCCATCTCTGCCC	0.448000										HNSCC(7;0.00092)			48	248					0	0	0.870114	0	0
LILRA1	11024	broad.mit.edu	37	19	55107882	55107882	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr19:55107882G>A	uc002qgh.1	+	6	1369	c.1187G>A	c.(1186-1188)aGg>aAg	p.R396K	LILRA1_uc010yfg.1_Missense_Mutation_p.R394K|LILRA1_uc010yfh.2_Missense_Mutation_p.R396K	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	396	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.Y395S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGGACCTACAGGTGCTACGGC	0.587000													22	88					0	0	0.608945	0	0
LMF2	91289	broad.mit.edu	37	22	50943889	50943889	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr22:50943889C>A	uc003blp.2	-	6	1025	c.994G>T	c.(994-996)Gtg>Ttg	p.V332L	LMF2_uc003blo.2_Missense_Mutation_p.V307L|NCAPH2_uc003blq.4_5'Flank|NCAPH2_uc003blv.3_5'Flank|NCAPH2_uc003blx.4_5'Flank|NCAPH2_uc003blr.4_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	332						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGTAGTGCACAGTGCCATAG	0.662000													20	85					7.45023e-12	8.43052e-12	0.592651	1	0
RTEL1	51750	broad.mit.edu	37	20	62321451	62321451	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr20:62321451C>T	uc021wge.1	+	23	2323	c.2153C>T	c.(2152-2154)gCc>gTc	p.A718V	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.A718V|RTEL1_uc011abd.2_Missense_Mutation_p.A742V|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.A495V|RTEL1_uc002yfx.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	718					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TTCGCCTTTGCCGACGCAAGA	0.617000													3	82					0	0	0.150653	0	0
TXNDC16	57544	broad.mit.edu	37	14	52922041	52922041	+	Splice_Site	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr14:52922041C>T	uc001wzs.3	-	18	2291	c.1842_splice	c.e18+1	p.F614_splice	TXNDC16_uc010tqu.2_Splice_Site_p.F609_splice|TXNDC16_uc010aoe.3_Splice_Site	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	614					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AACATACTCACAAACATTTCC	0.358000													13	39					0	0	0.479597	0	0
MAP4K4	9448	broad.mit.edu	37	2	102503626	102503626	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:102503626A>G	uc002tbc.3	+	28	3884	c.3506A>G	c.(3505-3507)tAt>tGt	p.Y1169C	MAP4K4_uc002tbf.3_Missense_Mutation_p.Y1122C|MAP4K4_uc002tbd.3_Missense_Mutation_p.Y1061C|MAP4K4_uc010yvy.2_Missense_Mutation_p.Y1084C|MAP4K4_uc002tbh.3_Missense_Mutation_p.Y1006C|MAP4K4_uc002tbg.3_Missense_Mutation_p.Y1088C|MAP4K4_uc002tbi.3_Missense_Mutation_p.Y891C|MAP4K4_uc010yvz.2_Missense_Mutation_p.Y1128C|MAP4K4_uc002tbk.3_Missense_Mutation_p.Y543C|MAP4K4_uc021vlq.1_Missense_Mutation_p.Y274C|MAP4K4_uc002tbl.3_Missense_Mutation_p.Y274C	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	1088	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAAGTGATCTATGGATCCTGT	0.423000													3	17					0	0	0.115264	0	0
ITGA2B	3674	broad.mit.edu	37	17	42455842	42455842	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:42455842A>C	uc002igt.1	-	19	2014	c.1982T>G	c.(1981-1983)gTc>gGc	p.V661G	ITGA2B_uc002igu.1_Missense_Mutation_p.V142G	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	661					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAGCTCCAGGACATTATCTGC	0.657000													4	17					0	0	0.184627	0	0
TP53	7157	broad.mit.edu	37	17	7578458	7578458	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:7578458G>C	uc002gim.2	-	4	666	c.472C>G	c.(472-474)Cgc>Ggc	p.R158G	TP53_uc002gig.1_Missense_Mutation_p.R158G|TP53_uc002gih.3_Missense_Mutation_p.R158G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26G|TP53_uc010cnf.1_Missense_Mutation_p.R26G|TP53_uc002gii.1_Missense_Mutation_p.R26G|TP53_uc010cni.1_Missense_Mutation_p.R158G|TP53_uc010cnh.1_Missense_Mutation_p.R158G|TP53_uc002gij.2_Missense_Mutation_p.R158G|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65G|TP53_uc002gio.2_Missense_Mutation_p.R26G|TP53_uc010vug.2_Missense_Mutation_p.R119G	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.V157F(151)|p.R158H(66)|p.R158L(61)|p.R158C(34)|p.R158G(28)|p.R158fs*12(12)|p.V157I(10)|p.R158P(9)|p.R158fs*11(9)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.V157V(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.R158_A159insX(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R158fs*24(2)|p.R65G(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R26G(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R156_V157del(1)|p.R158_A159insXX(1)|p.R156fs*12(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*23(1)|p.V157fs*25(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)		GCCATGGCGCGGACGCGGGTG	0.622000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	33					0	0	0.575678	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938316	30938316	+	Splice_Site	SNP	G	G	A	rs112615235	by1000genomes	TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:30938316G>A	uc010azv.1	+	11		c.1127_splice	c.e11-1		ARHGAP11B_uc001zeu.3_Splice_Site|LOC100288637_uc001zev.3_5'Flank			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TTCCTTGGCAGTGGATAAGTT	0.393000													3	35					0	0	0.115264	0	0
KIDINS220	57498	broad.mit.edu	37	2	8958894	8958894	+	Silent	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:8958894G>A	uc002qzc.2	-	2	320	c.138C>T	c.(136-138)gcC>gcT	p.A46A	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.A4A|KIDINS220_uc010yiw.1_Silent_p.A46A	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	46					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCCTTGTTCGGCAGCTATCA	0.328000													18	67					0	0	0.608945	0	0
FAM75C1	441452	broad.mit.edu	37	9	90537434	90537434	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr9:90537434C>T	uc010mqi.3	+	3	2641	c.2612C>T	c.(2611-2613)aCg>aTg	p.T871M	FAM75C1_uc004apq.4_Missense_Mutation_p.T854M|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GGAATGGCCACGAAGTCAGAG	0.507000													22	97					0	0	0.667858	0	0
SSX8	280659	broad.mit.edu	37	X	52655349	52655349	+	RNA	SNP	T	T	A	rs34990448	by1000genomes	TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:52655349T>A	uc011moa.1	+	3		c.476T>A			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		TAGGTTTCAATGTCACCCTCC	0.468000													3	58					0	0	0.115264	0	0
UMPS	7372	broad.mit.edu	37	3	124449455	124449455	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:124449455G>T	uc003ehl.4	+	0	243	c.137G>T	c.(136-138)cGa>cTa	p.R46L	UMPS_uc011bkb.2_5'UTR|UMPS_uc003ehn.4_5'UTR|UMPS_uc003ehm.4_Non-coding_Transcript|UMPS_uc011bka.2_5'UTR|UMPS_uc011bkc.2_5'UTR|UMPS_uc011bkd.2_5'UTR	NM_000373	NP_000364	P11172	UMPS_HUMAN	Homo sapiens uridine monophosphate synthetase (UMPS), transcript variant 1, mRNA.	46	OPRTase.				'de novo' UMP biosynthetic process|'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		ATCGTGTCTCGACCGCGTCTT	0.587000													11	31					2.80697e-09	3.09487e-09	0.387290	1	0
NF1	4763	broad.mit.edu	37	17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:29677227C>T	uc002hgg.3	+	49	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_uc002hgh.3_Nonsense_Mutation_p.R2429*|NF1_uc010cso.3_Nonsense_Mutation_p.R638*|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2450					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.R2450*(11)|p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			24	94					0	0	0.681144	0	0
USP37	57695	broad.mit.edu	37	2	219418446	219418446	+	Splice_Site	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:219418446A>G	uc010fvs.1	-	5	570	c.157_splice	c.e5-1	p.L53_splice	USP37_uc002vie.2_Splice_Site_p.L53_splice|USP37_uc010zkf.1_Splice_Site_p.L53_splice|USP37_uc002vif.2_Splice_Site_p.L53_splice|USP37_uc002vig.2_Splice_Site|USP37_uc010zkg.2_Splice_Site_p.L53_splice	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	53					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GTTATGACTTAGCTAATCAAG	0.318000													3	43					0	0	0.150653	0	0
FAM83G	644815	broad.mit.edu	37	17	18874945	18874945	+	Silent	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:18874945G>A	uc002guw.3	-	5	2366	c.2199C>T	c.(2197-2199)aaC>aaT	p.N733N	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	733										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGGGCCAGCGTTTCTGGTAG	0.642000													10	38					0	0	0.387290	0	0
DYM	54808	broad.mit.edu	37	18	46812851	46812851	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr18:46812851G>A	uc002ldi.1	-	8	1264	c.899C>T	c.(898-900)gCg>gTg	p.A300V	DYM_uc010xdf.1_Missense_Mutation_p.A110V|DYM_uc002ldj.3_Missense_Mutation_p.A122V	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	300						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGGGTTTGGCGCATCTGAGGC	0.488000													17	107					0	0	0.520397	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413810	22413810	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:22413810G>C	uc001yuf.3	+	0	349	c.109G>C	c.(109-111)Gtg>Ctg	p.V37L	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		ACTCCTTGTTGTGATGGCCTT	0.498000													4	121					0	0	0.150653	0	0
IGF1R	3480	broad.mit.edu	37	15	99434555	99434555	+	Splice_Site	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:99434555G>A	uc002bul.3	+	3	691	c.641_splice	c.e3-1	p.M214_splice	IGF1R_uc010urq.2_Splice_Site_p.M214_splice|IGF1R_uc010bon.3_Splice_Site_p.M214_splice	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	214					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCTCCACAGTGTGCCCAAGCA	0.647000													6	10					0	0	0.278610	0	0
ZNF17	7565	broad.mit.edu	37	19	57932287	57932287	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr19:57932287G>A	uc002qop.1	+	3	1699	c.1433G>A	c.(1432-1434)gGc>gAc	p.G478D	ZNF17_uc021vck.1_Missense_Mutation_p.G469D|ZNF17_uc002qoo.1_Missense_Mutation_p.G476D	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGTGAATGTGGCAAATTCTTT	0.413000													5	138					0	0	0.184627	0	0
PM20D1	148811	broad.mit.edu	37	1	205814452	205814452	+	Splice_Site	SNP	C	C	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:205814452C>G	uc001hdj.3	-	3	565	c.489_splice	c.e3+1	p.M163_splice	PM20D1_uc009xbr.3_Splice_Site	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	163						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCATCTCAGACCATCACAGAG	0.547000													4	62					0	0	0.184627	0	0
ATRX	546	broad.mit.edu	37	X	76813115	76813115	+	Splice_Site	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:76813115C>T	uc004ecp.4	-	30	6737	c.6505_splice	c.e30-1	p.G2169_splice	ATRX_uc004ecq.4_Splice_Site_p.G2131_splice|ATRX_uc004eco.4_Splice_Site_p.G1954_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2169	Helicase C-terminal.				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.?(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)	TTCCATGGTTCCCTTTGTAAA	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						19	26					0	0	0.575678	0	0
GSPT2	23708	broad.mit.edu	37	X	51488255	51488255	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:51488255T>A	uc004dpl.3	+	0	1775	c.1533T>A	c.(1531-1533)gaT>gaA	p.D511E		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	511					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TACTTTGTGATCCTAGTAACC	0.418000													23	25					0	0	0.624587	0	0
ACACA	31	broad.mit.edu	37	17	35580444	35580444	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:35580444C>T	uc002hnm.3	-	27	3633	c.3442G>A	c.(3442-3444)Gca>Aca	p.A1148T	ACACA_uc002hnk.3_Missense_Mutation_p.A1070T|ACACA_uc002hnl.3_Missense_Mutation_p.A1090T|ACACA_uc002hnn.3_Missense_Mutation_p.A1148T|ACACA_uc002hno.3_Missense_Mutation_p.A1185T|ACACA_uc010cuz.3_Missense_Mutation_p.A1148T	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1148					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.N1147N(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCAGAGCTGCCATCCTCACT	0.403000													20	118					0	0	0.575678	0	0
MYH2	4620	broad.mit.edu	37	17	10442867	10442867	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:10442867G>A	uc010coi.3	-	12	1288	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A387V|MYH2_uc010coj.3_Missense_Mutation_p.A387V	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	387	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A387V(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAGGTAGGCCGCCTTGTCAGC	0.428000													39	53					0	0	0.796494	0	0
CAPN3	825	broad.mit.edu	37	15	42676717	42676717	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:42676717G>T	uc001zpn.1	+	1	652	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.A29S|CAPN3_uc010udf.1_Missense_Mutation_p.A29S|CAPN3_uc010udg.1_Missense_Mutation_p.A29S|CAPN3_uc001zpo.1_Missense_Mutation_p.A116S|CAPN3_uc001zpp.1_Missense_Mutation_p.A116S	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	116	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATTGATGGAGCCAACAGAAC	0.433000													23	85					0.000147802	0.000158887	0.706142	1	0
RELN	5649	broad.mit.edu	37	7	103290796	103290796	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr7:103290796C>T	uc022ajr.1	-	15	2087	c.1927G>A	c.(1927-1929)Gca>Aca	p.A643T	RELN_uc022ajq.1_Missense_Mutation_p.A643T|RELN_uc010liz.3_Missense_Mutation_p.A643T	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	643					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGGGTTAGTGCTGCGTTAGGA	0.403000													3	77					0	0	0.115264	0	0
GUCY2C	2984	broad.mit.edu	37	12	14794127	14794127	+	Missense_Mutation	SNP	G	G	A	rs148314105		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr12:14794127G>A	uc001rcd.3	-	17	2094	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	653	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.R653H(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTGGCTTGGCGGAGGTGCTCT	0.498000													17	55					0	0	0.539581	0	0
CCDC88B	283234	broad.mit.edu	37	11	64120928	64120928	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr11:64120928G>C	uc001nzy.3	+	21	3842	c.3793G>C	c.(3793-3795)Gag>Cag	p.E1265Q	CCDC88B_uc009ypo.2_Missense_Mutation_p.E1262Q|CCDC88B_uc001oaa.3_Missense_Mutation_p.E417Q|CCDC88B_uc001oab.1_Missense_Mutation_p.E96Q|CCDC88B_uc001oac.3_5'UTR	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	1265					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGCAGCCTGGAGAGTCGGGA	0.677000													7	16					0	0	0.248553	0	0
CCDC66	285331	broad.mit.edu	37	3	56627603	56627603	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:56627603A>G	uc003dhz.3	+	8	1240	c.1153A>G	c.(1153-1155)Aca>Gca	p.T385A	CCDC66_uc003dhy.3_Missense_Mutation_p.T21A|CCDC66_uc003dhu.3_Missense_Mutation_p.T351A|CCDC66_uc003dhx.3_Non-coding_Transcript	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	385										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CTCTCAGTCAACACACAAACA	0.453000													10	53					0	0	0.361761	0	0
RAI14	26064	broad.mit.edu	37	5	34811934	34811934	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr5:34811934A>G	uc003jis.3	+	10	1168	c.629A>G	c.(628-630)aAg>aGg	p.K210R	RAI14_uc003jir.3_Missense_Mutation_p.K207R|RAI14_uc010iur.3_Missense_Mutation_p.K207R|RAI14_uc011coj.2_Missense_Mutation_p.K207R|RAI14_uc010ius.1_Missense_Mutation_p.K136R|RAI14_uc003jit.3_Missense_Mutation_p.K207R|RAI14_uc011cok.2_Missense_Mutation_p.K199R	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	207						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTAATTAAAAAGGGTGCAGAC	0.383000													3	78					0	0	0.115264	0	0
NF1	4763	broad.mit.edu	37	17	29683983	29683984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:29683983_29683984insA	uc002hgg.3	+	52	8127_8128	c.7744_7745insA	c.(7744-7746)cagfs	p.Q2582fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.Q2561fs|NF1_uc010cso.3_Frame_Shift_Ins_p.Q770fs|NF1_uc010wbt.1_Frame_Shift_Ins_p.Q60fs|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2582					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCAGAAACTCAGAGGATTTCC	0.371			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			37	194	---	---	---	---					
ABHD16B	140701	broad.mit.edu	37	20	62494293	62494293	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr20:62494293delG	uc002ygx.1	+	0	1728	c.1400delG	c.(1399-1401)tggfs	p.W467fs	TPD52L2_uc002ygy.3_5'Flank|TPD52L2_uc021wgf.1_5'Flank|TPD52L2_uc021wgg.1_5'Flank|TPD52L2_uc011abk.2_5'Flank|TPD52L2_uc002ygz.3_5'Flank|TPD52L2_uc002yha.3_5'Flank|TPD52L2_uc002yhb.3_5'Flank|TPD52L2_uc011abl.2_5'Flank|TPD52L2_uc002yhc.3_5'Flank|TPD52L2_uc002yhd.3_5'Flank|TPD52L2_uc021wgh.1_5'Flank|TPD52L2_uc021wgi.1_5'Flank	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	Homo sapiens abhydrolase domain containing 16B (ABHD16B), mRNA.	467							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						CAGTTGCCCTGGCGGCTGTAA	0.632													2	4	---	---	---	---					
