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
EPPK1	83481	broad.mit.edu	37	8	144941923	144941923	+	Silent	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:144941923C>T	ENST00000525985.1	-	2	5570	c.5499G>A	c.(5497-5499)acG>acA	p.T1833T				P58107	EPIPL_HUMAN	epiplakin 1	1833						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCAATTGTCGTGGTGATGA	0.537000													186	153					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24651222	24651222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr14:24651222G>A	ENST00000354464.6	-	26	2922	c.2746C>T	c.(2746-2748)Cga>Tga	p.R916*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	916					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCATTGCTTCGCACCTCGGGG	0.647000													13	15					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43859895	43859895	+	RNA	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:43859895G>A	ENST00000378009.4	+	0	504				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GCCCCAAGGGGACCACACACT	0.572000													5	31					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131249211	131249211	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:131249211C>G	ENST00000357668.1	-	3	243	c.216G>C	c.(214-216)caG>caC	p.Q72H	ASAP1_ENST00000518721.1_Missense_Mutation_p.Q72H			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	72					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCTTCACTTTCTGAAGGGCTG	0.289000													41	75					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997700	27997700	+	Silent	SNP	T	T	C			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chrX:27997700T>C	ENST00000441525.1	-	1	1866	c.1752A>G	c.(1750-1752)tcA>tcG	p.S584S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	584										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CGGATGTATCTGAGGTGCTGG	0.522000													39	10					0	0	1	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37792097	37792097	+	Silent	SNP	C	C	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:37792097C>A	ENST00000254079.4	+	7	1063	c.594C>A	c.(592-594)tcC>tcA	p.S198S	PPP1R1B_ENST00000579000.1_Silent_p.S165S|PPP1R1B_ENST00000394265.1_Silent_p.S162S|PPP1R1B_ENST00000394267.2_Silent_p.S162S|PPP1R1B_ENST00000580825.1_Silent_p.S198S	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	198					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCGCCCTTCCCCCTCTGAGC	0.627000													4	13					0.0293803	0.0306045	1	1	0
TP53	7157	broad.mit.edu	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:7577566T>C	ENST00000420246.2	-	7	847	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(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)		CAGGAACTGTTACACATGTAG	0.572000		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)			18	18					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68540743	68540743	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr11:68540743G>A	ENST00000265641.5	-	14	1884	c.1730C>T	c.(1729-1731)gCg>gTg	p.A577V	CPT1A_ENST00000540367.1_Missense_Mutation_p.A577V|CPT1A_ENST00000539743.1_Missense_Mutation_p.A577V|CPT1A_ENST00000376618.2_Missense_Mutation_p.A577V|CPT1A_ENST00000537756.2_5'UTR	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	577					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTGTAGTGCGCCAGCTGGAG	0.552000													11	22					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31364637	31364637	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr14:31364637G>T	ENST00000355683.5	-	16	2337	c.2122C>A	c.(2122-2124)Ctt>Att	p.L708I	STRN3_ENST00000357479.5_Missense_Mutation_p.L792I	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	792					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACTTTGGCAAGAGCATCAGCT	0.388000													17	21					8.34094e-07	9.69876e-07	1	1	0
RBM4	5936	broad.mit.edu	37	11	66407351	66407351	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr11:66407351C>A	ENST00000409406.1	+	1	946	c.169C>A	c.(169-171)Cat>Aat	p.H57N	RBM4_ENST00000506523.2_Missense_Mutation_p.H57N|RBM4_ENST00000532968.1_Missense_Mutation_p.H57N|RBM4_ENST00000503028.2_Missense_Mutation_p.H57N|RBM4_ENST00000530235.1_Missense_Mutation_p.H57N|RBM4_ENST00000398692.4_Missense_Mutation_p.H57N|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000483858.1_Missense_Mutation_p.H57N|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.H57N|RBM4_ENST00000396053.4_Missense_Mutation_p.H57N|RBM4_ENST00000408993.2_Missense_Mutation_p.H57N|RBM4_ENST00000578778.1_Missense_Mutation_p.H57N					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CAACCTGCACCATTACAAGCT	0.483000													20	96					5.35047e-06	5.94497e-06	1	1	0
OR2Z1	284383	broad.mit.edu	37	19	8841451	8841451	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:8841451T>A	ENST00000324060.2	+	1	136	c.61T>A	c.(61-63)Tca>Aca	p.S21T		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTCAGTCACTCAGGATCACG	0.527000													3	31					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10385561	10385561	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:10385561C>T	ENST00000264832.3	+	2	513	c.188C>T	c.(187-189)cCg>cTg	p.P63L	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	63	Ig-like C2-type 1.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	ATAGAGACCCCGTTGCCTAAA	0.542000													26	40					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144893085	144893085	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:144893085G>A	ENST00000356994.2	-	11	1270	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	SCRIB_ENST00000320476.3_Missense_Mutation_p.P422S|SCRIB_ENST00000377533.3_Missense_Mutation_p.P341S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	422	Sufficient for targeting to adherens junction and to inhibit cell proliferation.		P -> L (in dbSNP:rs6558394).		activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCGAGGCTGGGTGGGGGCTGC	0.657000													4	36					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112174237	112174237	+	Silent	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr5:112174237G>A	ENST00000457016.1	+	16	3326	c.2946G>A	c.(2944-2946)tcG>tcA	p.S982S	APC_ENST00000508376.2_Silent_p.S982S|APC_ENST00000257430.4_Silent_p.S982S|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	982	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGAAACCCTCGATTGAATCCT	0.358000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			9	57					0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32472993	32472993	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr9:32472993C>T	ENST00000379882.1	-	13	2016	c.1859G>A	c.(1858-1860)gGc>gAc	p.G620D	DDX58_ENST00000545044.1_Missense_Mutation_p.G462D|DDX58_ENST00000379868.1_Missense_Mutation_p.G462D|DDX58_ENST00000542096.1_Missense_Mutation_p.G594D|DDX58_ENST00000379883.2_Missense_Mutation_p.G665D			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	665	Helicase C-terminal.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ATTTGTTTTGCCACGTCCAGT	0.318000													4	55					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10557913	10557913	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:10557913G>A	ENST00000304519.5	+	4	846	c.817G>A	c.(817-819)Gca>Aca	p.A273T	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	273										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CACCAGCCACGCAGGCCAGGA	0.582000													19	6					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	43					0	0	1	0	0
AHSA1	10598	broad.mit.edu	37	14	77928586	77928586	+	Splice_Site	SNP	G	G	C			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr14:77928586G>C	ENST00000216479.3	+	3	514		c.e3+1		AHSA1_ENST00000535854.2_Splice_Site|AHSA1_ENST00000555457.1_Splice_Site	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)						protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGAAGTGGAGGTTTGTGCTTC	0.433000													8	38					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176640135	176640135	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:176640135A>G	ENST00000367662.3	+	4	3185	c.2021A>G	c.(2020-2022)gAg>gGg	p.E674G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E674G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	674	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGCTGAAGGAGGCCCTGCAG	0.507000													33	190					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511994	4511994	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:4511994C>T	ENST00000301286.3	-	3	1935	c.1936G>A	c.(1936-1938)Gcg>Acg	p.A646T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	646	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTACCTGTCGCGATATTTTGG	0.572000													27	101					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35039555	35039555	+	Missense_Mutation	SNP	G	G	A	rs150835438		TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr5:35039555G>A	ENST00000231420.6	-	3	436	c.236C>T	c.(235-237)aCg>aTg	p.T79M		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	79					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.T79M(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GAAATATGCCGTCACCACAGG	0.473000													25	82					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188477959	188477959	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr3:188477959G>A	ENST00000312675.4	+	8	1545	c.1299G>A	c.(1297-1299)atG>atA	p.M433I	LPP_ENST00000543006.1_Missense_Mutation_p.M433I|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	433	LIM zinc-binding 1.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCACTGCCATGGATCAGGTCT	0.493000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								7	45					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	127981001	127981001	+	Silent	SNP	G	G	A	rs7625074	byFrequency	TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr3:127981001G>A	ENST00000254730.6	+	3	609	c.555G>A	c.(553-555)gcG>gcA	p.A185A	EEFSEC_ENST00000483457.1_Silent_p.A185A	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	185						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TACCCGTGGCGGCCAAGCCGG	0.532000													37	56					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46330845	46330845	+	Silent	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:46330845G>A	ENST00000245934.7	-	16	2348	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	702					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TTGAAGATCAGGTCTCGAAGT	0.587000													7	31					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113267576	113267576	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:113267576A>G	ENST00000297405.5	-	62	10187	c.9943T>C	c.(9943-9945)Ttc>Ctc	p.F3315L	CSMD3_ENST00000343508.3_Missense_Mutation_p.F3275L|CSMD3_ENST00000455883.2_Missense_Mutation_p.F3146L|CSMD3_ENST00000352409.3_Missense_Mutation_p.F3245L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3315	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGCAGCTGAATGAAACCTCT	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	118					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536499	5536499	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr11:5536499C>A	ENST00000380184.1	-	1	1436	c.1173G>T	c.(1171-1173)caG>caT	p.Q391H	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	391										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTTCTTGAAGCTGCTGGGTAA	0.507000													16	69					3.52763e-06	4.00867e-06	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40368661	40368661	+	Silent	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:40368661G>A	ENST00000221347.6	-	28	12694	c.12687C>T	c.(12685-12687)gtC>gtT	p.V4229V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4229	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CATTAGGGAAGACCTGGTCAT	0.632000													13	423					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456010	110456010	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:110456010T>A	ENST00000378402.5	+	37	4774	c.4670T>A	c.(4669-4671)cTa>cAa	p.L1557Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1557					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAAAGATTGCTATTTGAGGTT	0.408000										HNSCC(38;0.096)			31	75					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54276007	54276007	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chrX:54276007T>C	ENST00000354646.2	-	17	3212	c.2774A>G	c.(2773-2775)aAt>aGt	p.N925S	WNK3_ENST00000375169.3_Missense_Mutation_p.N925S|WNK3_ENST00000375159.2_Missense_Mutation_p.N925S	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	925					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTGGCATGGATTATTTTCTAT	0.408000													87	18					0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600377	54600377	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:54600377C>T	ENST00000284648.6	-	4	342	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	OSCAR_ENST00000351806.4_Missense_Mutation_p.V38M|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000391761.1_Missense_Mutation_p.V38M|OSCAR_ENST00000358375.4_Missense_Mutation_p.V49M|OSCAR_ENST00000359649.4_Missense_Mutation_p.V53M|OSCAR_ENST00000356532.3_Missense_Mutation_p.V53M			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	49	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CTCAAGGTCACGTTGACCCCA	0.602000													32	48					0	0	1	0	0
C19orf54	284325	broad.mit.edu	37	19	41250044	41250044	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:41250044G>A	ENST00000378313.2	-	4	694	c.575C>T	c.(574-576)tCt>tTt	p.S192F	C19orf54_ENST00000339153.3_Intron|C19orf54_ENST00000598729.1_Intron|C19orf54_ENST00000470681.1_Intron|C19orf54_ENST00000598485.2_Intron	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	192										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CAGGCCACCAGAGAGCAGCTT	0.667000													24	20					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117662760	117662760	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr6:117662760G>A	ENST00000368508.3	-	29	4903	c.4705C>T	c.(4705-4707)Cgg>Tgg	p.R1569W	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.R1563W	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1569	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTGTCTGACCGCACAGTTGTA	0.428000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								4	68					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148877997	148877997	+	Silent	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr3:148877997C>T	ENST00000296051.2	+	11	2177	c.2037C>T	c.(2035-2037)acC>acT	p.T679T	HPS3_ENST00000460120.1_Silent_p.T514T	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	679						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGACATTGACCAAGGCAGCAG	0.433000									Hermansky-Pudlak syndrome				10	43					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318152	48318152	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr7:48318152C>T	ENST00000435803.1	+	18	7385	c.7361C>T	c.(7360-7362)aCg>aTg	p.T2454M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2454					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTAATCTAACGGATTTGCTT	0.343000													9	56					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958036	121958036	+	Missense_Mutation	SNP	G	G	A	rs151063601		TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr4:121958036G>A	ENST00000379692.4	-	4	1616	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	364										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GGAGCAAACCGTAGAAACTTT	0.423000													16	61					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169952443	169952443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:169952443G>A	ENST00000367765.1	-	13	2855	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.Q414*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.Q448*|KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.Q194*|KIFAP3_ENST00000361580.2_Nonsense_Mutation_p.Q492*	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	492					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCATCATGCTGAGAAATGTTT	0.368000													19	54					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257669	18257669	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:18257669A>T	ENST00000286479.3	+	2	263	c.156A>T	c.(154-156)ttA>ttT	p.L52F	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	52					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		AGTTGGGCTTAGAGGCTATTT	0.473000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				30	131					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91252588	91252588	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr14:91252588C>T	ENST00000357056.2	-	2	327	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	TTC7B_ENST00000328459.6_Missense_Mutation_p.R69Q			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	69							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTTGGGGCCTCGGGGACTGGC	0.622000													8	27					0	0	1	0	0
IRAK3	0	broad.mit.edu	37	12	66597578	66597578	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr12:66597578G>T	ENST00000261233.4	+	2	642	c.221G>T	c.(220-222)tGg>tTg	p.W74L	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	74	Death.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GAATTACTTTGGTCCTGGGCA	0.423000													17	54					2.48551e-13	2.95893e-13	1	1	0
PYHIN1	149628	broad.mit.edu	37	1	158943506	158943506	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:158943506C>A	ENST00000368140.1	+	8	1674	c.1429C>A	c.(1429-1431)Cct>Act	p.P477T	PYHIN1_ENST00000368138.3_Missense_Mutation_p.P468T|PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000392254.2_Intron	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	477					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AACTGTGGCCCCTCCTCTTTC	0.438000													27	86					3.65163e-15	4.45321e-15	1	1	0
PANX2	56666	broad.mit.edu	37	22	50609366	50609366	+	Silent	SNP	C	C	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr22:50609366C>A	ENST00000395842.2	+	1	207	c.207C>A	c.(205-207)gtC>gtA	p.V69V	PANX2_ENST00000159647.5_Silent_p.V69V	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	69					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TCACCCTGGTCTTCACCAAGA	0.726000													2	0					0.0784	0.08	1	1	0
PHC1	1911	broad.mit.edu	37	12	9086525	9086525	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr12:9086525C>G	ENST00000433083.2	+	8	1968	c.1823C>G	c.(1822-1824)tCc>tGc	p.S608C	PHC1_ENST00000536844.1_Missense_Mutation_p.S259C|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000543824.1_Missense_Mutation_p.S653C|PHC1_ENST00000544916.1_Missense_Mutation_p.S653C			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	653					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GATGATGTCTCCACATTGGGT	0.468000													18	26					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8482823	8482825	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:8482823_8482825delGAA	ENST00000337907.3	-	13	1880_1882	c.1246_1248delTTC	c.(1246-1248)del	p.F416del	RERE_ENST00000377464.1_In_Frame_Del_p.F148del|RERE_ENST00000400908.2_In_Frame_Del_p.F416del|RERE_ENST00000400907.2_In_Frame_Del_p.F416del|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000460659.1_5'UTR	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	416	SANT.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTCTAATTCTGAAGAAGTTCTTC	0.399													17	70	---	---	---	---					
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	CTT	-	rs138237342	by1000genomes	TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:29475219_29475221delCTT	ENST00000373795.4	-	6	1420_1422	c.1186_1188delAAG	c.(1186-1188)del	p.K396del	SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	396	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601													7	110	---	---	---	---					
DYNC1I2	1781	broad.mit.edu	37	2	172549338	172549339	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr2:172549338_172549339insA	ENST00000534253.2	+	3	328_329	c.160_161insA	c.(160-162)aaafs	p.K54fs	DYNC1I2_ENST00000409197.1_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000508530.1_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000397119.3_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000410079.3_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000340296.4_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000358002.6_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000409453.1_Frame_Shift_Ins_p.K54fs			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	54					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	p.R57fs*13(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ATCAGATCTTGAAAAAAAAAGG	0.351													3	5	---	---	---	---					
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttg>t	p.LL23del	CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	23					innate immune response	endoplasmic reticulum		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695													2	4	---	---	---	---					
ABCA13	154664	broad.mit.edu	37	7	48353865	48353865	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr7:48353865delG	ENST00000435803.1	+	26	9742	c.9718delG	c.(9718-9720)gtfs	p.G3240fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3240					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAGCTTTTGGTTCTTTCCA	0.353													22	19	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29490363	29490363	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:29490363delT	ENST00000358273.4	+	4	831	c.448delT	c.(448-450)tcfs	p.F150fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.F150fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.F150fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	150					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|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|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|Ras protein signal transduction|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	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	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)		CTGCAACAACTTCAATGCAGT	0.398			"""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	65	---	---	---	---					
CACNA1G	8913	broad.mit.edu	37	17	48703707	48703709	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:48703707_48703709delGAA	ENST00000352832.5	+	34	6720_6722	c.6348_6350delGAA	c.(6346-6351)ctg>ct	p.LK2116del	CACNA1G_ENST00000505165.1_In_Frame_Del_p.LK2071del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.LK2132del|CACNA1G_ENST00000360761.4_In_Frame_Del_p.LK2127del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.LK2125del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.LK2209del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.LK2116del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.LK2157del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.LK2139del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.LK2098del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.LK2172del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.LK2153del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.LK2180del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.LK2187del|CACNA1G_ENST00000358244.5_In_Frame_Del_p.LK2037del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.LK2150del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.LK2164del|CACNA1G_ENST00000359106.5_In_Frame_Del_p.LK2243del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.LK2093del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.LK2198del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.LK2105del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.LK2143del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.LK2109del|CACNA1G_ENST00000507336.1_In_Frame_Del_p.LK2232del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.LK2060del	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2243					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CACGGGACCTGAAGAAGTGCTAC	0.640											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	21	---	---	---	---					
TRAPPC8	22878	broad.mit.edu	37	18	29497560	29497560	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr18:29497560delA	ENST00000283351.4	-	3	758	c.423delT	c.(421-423)ttfs	p.F141fs	TRAPPC8_ENST00000582513.1_Frame_Shift_Del_p.F141fs|TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.F87fs	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	141					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTGGTTCAGAAATTCATGAT	0.318													23	86	---	---	---	---