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-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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													235	112					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121880545	121880545	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr12:121880545G>A	ENST00000377069.4	-	18	2898	c.2492C>T	c.(2491-2493)gCg>gTg	p.A831V	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.A900V|KDM2B_ENST00000542973.1_Missense_Mutation_p.A268V	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	900					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTTGGGGGGCGCCTCGGGCAG	0.706000													8	12					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495442	6495442	+	Silent	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:6495442G>A	ENST00000264071.2	-	4	1439	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	TUBB4A_ENST00000540257.1_Silent_p.I356I			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	356					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CGCGGGGCGGGATGTCGCACA	0.612000													6	223					0	0	1	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65506469	65506469	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr9:65506469C>T	ENST00000355045.2	-	4	1119	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q		NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7									p.R364Q(1)									AGCCAAATTCCGCAAATAATT	0.433000													12	285					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997700	27997700	+	Silent	SNP	T	T	C			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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													40	26					0	0	1	0	0
DDX39A	10212	broad.mit.edu	37	19	14523412	14523412	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:14523412G>A	ENST00000242776.4	-	3	388	c.287C>T	c.(286-288)gCg>gTg	p.A96V	DDX39A_ENST00000454233.2_Missense_Mutation_p.A96V	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	96	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CACGAAGACCGCTGTCTTGCC	0.642000													3	39					0	0	1	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37792097	37792097	+	Silent	SNP	C	C	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:37792097C>A	ENST00000254079.4	+	7	1063	c.594C>A	c.(592-594)tcC>tcA	p.S198S	PPP1R1B_ENST00000580825.1_Silent_p.S198S|PPP1R1B_ENST00000394265.1_Silent_p.S162S|PPP1R1B_ENST00000579000.1_Silent_p.S165S|PPP1R1B_ENST00000394267.2_Silent_p.S162S	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													5	26					1	1	1	1	0
TP53	7157	broad.mit.edu	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:7577566T>C	ENST00000420246.2	-	7	847	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000269305.4_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_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)			29	33					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68540743	68540743	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr11:68540743G>A	ENST00000265641.5	-	14	1884	c.1730C>T	c.(1729-1731)gCg>gTg	p.A577V	CPT1A_ENST00000539743.1_Missense_Mutation_p.A577V|CPT1A_ENST00000540367.1_Missense_Mutation_p.A577V|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000376618.2_Missense_Mutation_p.A577V	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													9	36					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31364637	31364637	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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													13	21					1.49906e-05	1.64603e-05	1	1	0
SALL3	27164	broad.mit.edu	37	18	76754090	76754090	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr18:76754090C>T	ENST00000536229.3	+	1	2409	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M	SALL3_ENST00000575389.2_Missense_Mutation_p.T700M|SALL3_ENST00000537592.2_Missense_Mutation_p.T700M			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	700					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CACTACCGGACGCACACGGGG	0.632000													8	30					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104753181	104753181	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr7:104753181C>A	ENST00000334877.4	+	26	5386	c.4852C>A	c.(4852-4854)Cat>Aat	p.H1618N	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.H1660N|KMT2E_ENST00000257745.4_Missense_Mutation_p.H1660N					lysine (K)-specific methyltransferase 2E																		AGGGCCTGTTCATGCGGTCAC	0.597000													3	44					1	1	1	1	0
SCRIB	23513	broad.mit.edu	37	8	144893085	144893085	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:144893085G>A	ENST00000356994.2	-	11	1270	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	SCRIB_ENST00000377533.3_Missense_Mutation_p.P341S|SCRIB_ENST00000320476.3_Missense_Mutation_p.P422S	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													10	38					0	0	1	0	0
TBXA2R	0	broad.mit.edu	37	19	3600596	3600596	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:3600596G>A	ENST00000375190.4	-	2	430	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	TBXA2R_ENST00000589966.1_Missense_Mutation_p.R13W|TBXA2R_ENST00000411851.3_Missense_Mutation_p.R13W	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	13					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TTTGTGGGCCGGAAACAGGGC	0.667000													3	33					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	127981001	127981001	+	Silent	SNP	G	G	A	rs7625074	byFrequency	TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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													54	113					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10557913	10557913	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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													4	22					0	0	1	0	0
RP11-69H14.6	0	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383000													4	200					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176640135	176640135	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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													34	211					0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93902802	93902802	+	Silent	SNP	A	A	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr10:93902802A>T	ENST00000412050.4	-	6	1483	c.1395T>A	c.(1393-1395)tcT>tcA	p.S465S	CPEB3_ENST00000265997.4_Silent_p.S479S	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	479	RRM 1.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GAGGAAAATAAGACTTGCTTT	0.413000													3	37					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511994	4511994	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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													38	120					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35039555	35039555	+	Missense_Mutation	SNP	G	G	A	rs150835438		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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													18	74					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1481849	1481849	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:1481849C>T	ENST00000300954.5	-	15	2238	c.2177G>A	c.(2176-2178)gGc>gAc	p.G726D		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	726					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGGACATGCCGCAGAGGAC	0.687000													3	23					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44180481	44180481	+	Splice_Site	SNP	A	A	G			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr12:44180481A>G	ENST00000431837.1	+	11	1283		c.e11-1		IRAK4_ENST00000448290.2_Splice_Site|IRAK4_ENST00000440781.2_Splice_Site|IRAK4_ENST00000551736.1_Splice_Site	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4						innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TCTTTTTAAAAGGTTCAACAG	0.308000													4	68					0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13189499	13189499	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:13189499G>A	ENST00000397661.2	+	7	1258	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	NFIX_ENST00000587260.1_Missense_Mutation_p.R342H|NFIX_ENST00000588228.1_Missense_Mutation_p.R296H|NFIX_ENST00000592199.1_Missense_Mutation_p.R343H|NFIX_ENST00000587760.1_Missense_Mutation_p.R335H|NFIX_ENST00000360105.4_Intron|NFIX_ENST00000585575.1_Missense_Mutation_p.R335H|NFIX_ENST00000358552.3_Intron	NM_002501.2	NP_002492.2	Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	343					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			AGCTCCCCGCGCATGGCTTTC	0.642000													4	7					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6496111	6496111	+	Silent	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:6496111G>A	ENST00000264071.2	-	4	770	c.399C>T	c.(397-399)ttC>ttT	p.F133F	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Silent_p.F133F|TUBB4A_ENST00000598006.1_3'UTR			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	133					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GGGTCAGCTGGAAGCCCTGAA	0.642000													4	87					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													3	37					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10385561	10385561	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:10385561C>T	ENST00000264832.3	+	2	513	c.188C>T	c.(187-189)cCg>cTg	p.P63L	ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	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													11	56					0	0	1	0	0
UQCRB	7381	broad.mit.edu	37	8	97243340	97243340	+	Missense_Mutation	SNP	C	C	T	rs34142481	byFrequency	TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:97243340C>T	ENST00000518406.1	-	5	424	c.416G>A	c.(415-417)cGt>cAt	p.R139H	UQCRB_ENST00000523920.1_3'UTR|UQCRB_ENST00000287022.5_Silent_p.P93P|UQCRB_ENST00000517523.1_3'UTR	NM_001254752.1	NP_001241681.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	0					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					CTTTCAGATACGGTTCAAGGT	0.353000													4	225					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54276007	54276007	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chrX:54276007T>C	ENST00000354646.2	-	17	3212	c.2774A>G	c.(2773-2775)aAt>aGt	p.N925S	WNK3_ENST00000375159.2_Missense_Mutation_p.N925S|WNK3_ENST00000375169.3_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													53	16					0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600377	54600377	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:54600377C>T	ENST00000284648.6	-	4	342	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	OSCAR_ENST00000391761.1_Missense_Mutation_p.V38M|OSCAR_ENST00000359649.4_Missense_Mutation_p.V53M|OSCAR_ENST00000356532.3_Missense_Mutation_p.V53M|OSCAR_ENST00000351806.4_Missense_Mutation_p.V38M|OSCAR_ENST00000358375.4_Missense_Mutation_p.V49M|OSCAR_ENST00000391760.1_Intron			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													21	54					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392753	89392753	+	RNA	SNP	A	A	C			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr11:89392753A>C	ENST00000532352.1	+	0	576							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTCTCTACTCAGACCCTGCTG	0.453000													3	35					0	0	1	0	0
SHC4	399694	broad.mit.edu	37	15	49254974	49254974	+	Missense_Mutation	SNP	G	G	A	rs144103856	byFrequency	TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr15:49254974G>A	ENST00000332408.4	-	1	667	c.239C>T	c.(238-240)cCc>cTc	p.P80L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	80	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CAGTGGGGTGGGGCTCTCCTG	0.637000													5	83					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9086525	9086525	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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_ENST00000543824.1_Missense_Mutation_p.S653C|PHC1_ENST00000544916.1_Missense_Mutation_p.S653C|PHC1_ENST00000433847.2_3'UTR			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													12	37					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831939	47831939	+	Silent	SNP	C	C	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr21:47831939C>A	ENST00000359568.5	+	28	6059	c.5952C>A	c.(5950-5952)gcC>gcA	p.A1984A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1984					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACGTGGAGGCCTCCCATGATG	0.647000													5	19					0.000602214	0.000636302	1	1	0
ARHGEF19	128272	broad.mit.edu	37	1	16532162	16532162	+	Splice_Site	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:16532162G>A	ENST00000270747.3	-	9	1588	c.1451_splice	c.e9-1	p.L484_splice	ARHGEF19_ENST00000421561.1_Intron|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	484	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTCTCCAGGCTGGAAAATG	0.602000													3	10					0	0	1	0	0
SSTR3	0	broad.mit.edu	37	22	37603776	37603776	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr22:37603776G>A	ENST00000328544.3	-	2	600	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	SSTR3_ENST00000402501.1_Missense_Mutation_p.P23S	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	23					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCATCTGGGGGCCAGGCCGAG	0.637000													3	42					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158943506	158943506	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:158943506C>A	ENST00000368140.1	+	8	1674	c.1429C>A	c.(1429-1431)Cct>Act	p.P477T	PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P468T|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													19	101					1.96292e-10	2.29008e-10	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48318152	48318152	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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													15	56					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24651222	24651222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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													10	31					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169952443	169952443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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_ENST00000540905.1_Nonsense_Mutation_p.Q194*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.Q448*|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													13	66					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257669	18257669	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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				63	94					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91252588	91252588	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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													11	33					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	61					0	0	1	0	0
IRAK3	0	broad.mit.edu	37	12	66597578	66597578	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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	68					1.01871e-10	1.21378e-10	1	1	0
RP11-566K19.6	0	broad.mit.edu	37	15	23108827	23108827	+	RNA	SNP	C	C	T	rs2570838		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr15:23108827C>T	ENST00000557922.1	-	0	302					NR_040057.1																						TCGTCTTCATCTTTTTTCTCT	0.393000													4	26					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171693379	171693379	+	Silent	SNP	G	G	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr2:171693379G>A	ENST00000358196.3	+	6	1174	c.624G>A	c.(622-624)acG>acA	p.T208T	GAD1_ENST00000375272.1_Silent_p.T208T|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Silent_p.T208T	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	208					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGACATCAACGGCCAATACCA	0.408000													4	68					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8482823	8482825	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:8482823_8482825delGAA	ENST00000337907.3	-	13	1880_1882	c.1246_1248delTTC	c.(1246-1248)del	p.F416del	RERE_ENST00000460659.1_5'UTR|RERE_ENST00000400907.2_In_Frame_Del_p.F416del|RERE_ENST00000377464.1_In_Frame_Del_p.F148del|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400908.2_In_Frame_Del_p.F416del	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	73	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs111245977		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)del	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													9	13	---	---	---	---					
CCT6P3	0	broad.mit.edu	37	7	64532708	64532709	+	RNA	INS	-	-	A			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr7:64532708_64532709insA	ENST00000426828.1	+	0	1228					NR_033416.1																						AAATGGGGACCAAAAAAAAAAA	0.351													2	4	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr10:129902204_129902205delTG	ENST00000368654.3	-	13	8274_8275	c.7899_7900delCA	c.(7897-7902)caaafs	p.HK2633fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2633	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGTTCTTTGTGTGTGTGTG	0.500													7	92	---	---	---	---					
FMN1	342184	broad.mit.edu	37	15	33202701	33202701	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr15:33202701delC	ENST00000334528.9	-	7	2592	c.2593delG	c.(2593-2595)agfs	p.E865fs	FMN1_ENST00000561249.1_Frame_Shift_Del_p.E990fs|FMN1_ENST00000559047.1_Frame_Shift_Del_p.E1088fs	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1088					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GCCAGGGTCTCCAGATCAACC	0.428													2	4	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29490363	29490363	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:29490363delT	ENST00000358273.4	+	4	831	c.448delT	c.(448-450)tcfs	p.F150fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.F150fs|NF1_ENST00000431387.4_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)			15	61	---	---	---	---					
CACNA1G	8913	broad.mit.edu	37	17	48703707	48703709	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	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_ENST00000358244.5_In_Frame_Del_p.LK2037del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.LK2060del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.LK2093del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.LK2125del|CACNA1G_ENST00000507336.1_In_Frame_Del_p.LK2232del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.LK2105del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.LK2153del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.LK2132del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.LK2198del|CACNA1G_ENST00000359106.5_In_Frame_Del_p.LK2243del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.LK2187del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.LK2143del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.LK2180del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.LK2150del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.LK2157del|CACNA1G_ENST00000505165.1_In_Frame_Del_p.LK2071del|CACNA1G_ENST00000360761.4_In_Frame_Del_p.LK2127del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.LK2098del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.LK2209del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.LK2139del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.LK2116del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.LK2109del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.LK2164del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.LK2172del	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)	10	31	---	---	---	---					
TRAPPC8	22878	broad.mit.edu	37	18	29497560	29497560	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr18:29497560delA	ENST00000283351.4	-	3	758	c.423delT	c.(421-423)ttfs	p.F141fs	TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.F87fs|TRAPPC8_ENST00000582513.1_Frame_Shift_Del_p.F141fs	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													32	121	---	---	---	---					
PDZD4	57595	broad.mit.edu	37	X	153074040	153074040	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chrX:153074040delT	ENST00000164640.4	-	2	262	c.71delA	c.(70-72)agfs	p.K24fs	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	24						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGAGCTCCTTCCCGTTCAC	0.647													2	4	---	---	---	---