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
LCE5A	254910	broad.mit.edu	37	1	152484310	152484310	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:152484310C>G	ENST00000334269.2	+	2	476	c.300C>G	c.(298-300)agC>agG	p.S100R		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	100	Cys-rich.				keratinization			p.S100R(1)		lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCTCCAGCTGCTGCCACA	0.682													4	9	---	---	---	---
GALNT2	2590	broad.mit.edu	37	1	230338965	230338965	+	Silent	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:230338965C>T	ENST00000366672.4	+	3	375	c.303C>T	c.(301-303)cgC>cgT	p.R101R	GALNT2_ENST00000541865.1_Silent_p.R11R|GALNT2_ENST00000543760.1_Silent_p.R63R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	101					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R101R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTTACGCCCGCAACAAGTTCA	0.552													6	224	---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37441066	37441066	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:37441066C>T	ENST00000234170.5	-	10	2631	c.2486G>A	c.(2485-2487)cGg>cAg	p.R829Q	AC007390.5_ENST00000438935.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	829					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.R829Q(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATCTGCATCCCGTTTTTGTTT	0.269													9	42	---	---	---	---
RAPH1	65059	broad.mit.edu	37	2	204304794	204304794	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:204304794A>G	ENST00000319170.5	-	14	3418	c.3119T>C	c.(3118-3120)gTt>gCt	p.V1040A	RAPH1_ENST00000374493.3_Missense_Mutation_p.V1092A|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1040					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		p.V1040A(2)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTTGGAGAACTCCAGGAAG	0.537													53	100	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228155518	228155518	+	Silent	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:228155518C>A	ENST00000396578.3	+	37	3288	c.3126C>A	c.(3124-3126)ggC>ggA	p.G1042G	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1042	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G1042G(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGACCAGGCCTCCCAGGTA	0.488													3	61	---	---	---	---
PID1	55022	broad.mit.edu	37	2	229890759	229890759	+	Silent	SNP	T	T	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:229890759T>A	ENST00000392054.3	-	4	675	c.336A>T	c.(334-336)ccA>ccT	p.P112P	PID1_ENST00000409462.1_Silent_p.P32P|PID1_ENST00000354069.6_Silent_p.P114P|PID1_ENST00000392055.3_Silent_p.P81P|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	114	PID.					cytoplasm		p.P112P(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GCTCAATGACTGGCTTTTCTG	0.532													10	88	---	---	---	---
KLHL18	23276	broad.mit.edu	37	3	47376266	47376266	+	Silent	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:47376266C>A	ENST00000232766.5	+	6	875	c.855C>A	c.(853-855)tcC>tcA	p.S285S	KLHL18_ENST00000455924.2_Silent_p.S173S	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	285								p.S285S(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GCTGCACATCCATCGCTGGAC	0.582													3	54	---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99568295	99568295	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:99568295T>G	ENST00000331335.5	-	5	2695	c.2225A>C	c.(2224-2226)gAt>gCt	p.D742A	FILIP1L_ENST00000383694.2_Missense_Mutation_p.D502A|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.D502A|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.D318A|FILIP1L_ENST00000354552.3_Missense_Mutation_p.D742A	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	742						cytoplasm|membrane|myosin complex|nucleus		p.D742A(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GACTGAGTGATCTCCCTGGAG	0.408													10	393	---	---	---	---
BCL6	604	broad.mit.edu	37	3	187447645	187447645	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:187447645C>T	ENST00000406870.2	-	5	914	c.548G>A	c.(547-549)aGc>aAc	p.S183N	BCL6_ENST00000450123.2_Missense_Mutation_p.S183N|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.S183N|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	183					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S183N(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACTGTACAGGCTGGGGGCAAA	0.602			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								30	38	---	---	---	---
PLG	5340	broad.mit.edu	37	6	161139389	161139389	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr6:161139389G>A	ENST00000308192.9	+	8	914	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	284	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.R284H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAAACTATCGCGGGAATGTG	0.493													40	170	---	---	---	---
INHBA	3624	broad.mit.edu	37	7	41739653	41739653	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:41739653A>T	ENST00000242208.4	-	2	566	c.320T>A	c.(319-321)aTt>aAt	p.I107N	INHBA_ENST00000442711.1_Missense_Mutation_p.I107N|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000415848.2_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	107					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.I107N(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTCCTTCCAATGTCATCCTC	0.562										TSP Lung(11;0.080)			19	758	---	---	---	---
ZKSCAN5	23660	broad.mit.edu	37	7	99110202	99110202	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:99110202C>G	ENST00000394170.2	+	3	792	c.541C>G	c.(541-543)Ctg>Gtg	p.L181V	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.L181V|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.L181V	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	181					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L181V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCCTCGTCTCCTGGAGGAAAA	0.587													20	35	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149526028	149526028	+	RNA	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:149526028G>A	ENST00000378016.2	+	0	15085							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGCAGGGCGAGGAGATGGT	0.667													8	6	---	---	---	---
FANCG	2189	broad.mit.edu	37	9	35076446	35076446	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:35076446C>A	ENST00000378643.3	-	8	1550	c.1059G>T	c.(1057-1059)agG>agT	p.R353S	FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	353					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	p.R353S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTGTAGGCACCTGCTTGCTA	0.532			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					9	105	---	---	---	---
SMC2	10592	broad.mit.edu	37	9	106889711	106889711	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:106889711G>A	ENST00000286398.7	+	20	3028	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N	SMC2_ENST00000374793.3_Missense_Mutation_p.D914N|SMC2_ENST00000374787.3_Missense_Mutation_p.D914N|SMC2_ENST00000303219.8_Missense_Mutation_p.D914N	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	914					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	p.D914N(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAAGGAATTAGACCACAACAT	0.363													53	82	---	---	---	---
UBAC1	10422	broad.mit.edu	37	9	138837764	138837764	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:138837764G>C	ENST00000371756.3	-	6	841	c.624C>G	c.(622-624)aaC>aaG	p.N208K		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	208	UBA 1.					Golgi apparatus|plasma membrane	protein binding	p.N208K(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TGGTGGCTCTGTTCTCCGGAA	0.662													14	46	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89690802	89690802	+	Splice_Site	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:89690802G>A	ENST00000371953.3	+	4	1566		c.e4-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(9)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTCTTTTAGTTGTGCTGAA	0.303		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			32	23	---	---	---	---
CRTAC1	55118	broad.mit.edu	37	10	99642555	99642555	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:99642555C>A	ENST00000370597.3	-	13	2018	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C	CRTAC1_ENST00000298819.4_Intron|CRTAC1_ENST00000468549.1_5'UTR|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G555C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	555						proteinaceous extracellular matrix	calcium ion binding	p.G555C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ATGCAATGGCCATTTTCCTGC	0.577													17	33	---	---	---	---
ENTPD7	57089	broad.mit.edu	37	10	101455823	101455823	+	Silent	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:101455823C>T	ENST00000370489.4	+	9	1132	c.954C>T	c.(952-954)aaC>aaT	p.N318N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	318						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	p.N318N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TCGGAGGCAACTTTGCCCGGC	0.453													11	169	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20101630	20101630	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:20101630G>T	ENST00000396085.1	+	25	5561	c.5200G>T	c.(5200-5202)Gca>Tca	p.A1734S	NAV2_ENST00000540292.1_Missense_Mutation_p.A1721S|NAV2_ENST00000360655.4_Missense_Mutation_p.A1670S|NAV2_ENST00000527559.2_Missense_Mutation_p.A1719S|NAV2_ENST00000349880.4_Missense_Mutation_p.A1734S|NAV2_ENST00000396087.3_Missense_Mutation_p.A1790S|NAV2_ENST00000311043.8_Missense_Mutation_p.A798S|NAV2_ENST00000533917.1_Missense_Mutation_p.A798S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1790						nucleus	ATP binding|helicase activity	p.A1790S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGCCCAGTCTGCAGACCTCCG	0.562													13	39	---	---	---	---
TCN1	6947	broad.mit.edu	37	11	59633903	59633903	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:59633903A>G	ENST00000257264.3	-	1	145	c.41T>C	c.(40-42)cTg>cCg	p.L14P	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	14					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	p.L14P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAAGAAAACAGTAAGAGCCC	0.413													49	109	---	---	---	---
EML3	256364	broad.mit.edu	37	11	62378665	62378665	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:62378665G>A	ENST00000394773.2	-	3	653	c.346C>T	c.(346-348)Cct>Tct	p.P116S	EML3_ENST00000278845.4_Missense_Mutation_p.P117S|EML3_ENST00000529309.1_Missense_Mutation_p.P116S|EML3_ENST00000494176.2_Missense_Mutation_p.P88S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	116						cytoplasm|microtubule	protein binding	p.P116S(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTCCCGCTAGGCTCTTCGCTG	0.697													4	30	---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95712225	95712225	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:95712225G>A	ENST00000524717.1	-	5	4642	c.3358C>T	c.(3358-3360)Cct>Tct	p.P1120S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1120					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.P1120S(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTTAGGGCAGGGCCCATGTTA	0.423			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								27	133	---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117052139	117052139	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:117052139G>C	ENST00000324225.4	+	2	722	c.191G>C	c.(190-192)gGc>gCc	p.G64A	SIDT2_ENST00000431081.2_Missense_Mutation_p.G64A	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	64						integral to membrane|lysosomal membrane		p.G64A(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CAGACAGAGGGCGTGCGTGTG	0.597											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	42	---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124857794	124857794	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:124857794C>T	ENST00000529051.1	+	8	1931	c.1672C>T	c.(1672-1674)Cag>Tag	p.Q558*	CCDC15_ENST00000344762.5_Nonsense_Mutation_p.Q558*			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	558						centrosome		p.Q558*(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACCCAAATGTCAGGACCAGGA	0.433													16	481	---	---	---	---
FGFR1OP2	26127	broad.mit.edu	37	12	27107226	27107226	+	Splice_Site	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:27107226G>T	ENST00000229395.3	+	2	477	c.135G>T	c.(133-135)caG>caT	p.Q45H	FGFR1OP2_ENST00000327214.5_Splice_Site_p.Q45H|FGFR1OP2_ENST00000546072.1_Splice_Site_p.Q45H	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	45						cytoplasm		p.Q45H(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					CCATGAAACAGGTTTGATTTT	0.348													3	65	---	---	---	---
ZNF641	121274	broad.mit.edu	37	12	48737263	48737263	+	Silent	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:48737263C>A	ENST00000544117.2	-	6	1518	c.810G>T	c.(808-810)ggG>ggT	p.G270G	ZNF641_ENST00000448928.3_Silent_p.G247G|ZNF641_ENST00000301042.3_Silent_p.G270G|ZNF641_ENST00000547026.1_Silent_p.G256G			Q96N77	ZN641_HUMAN	zinc finger protein 641	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G270G(1)		breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CAAACTGTTTCCCACACTGGG	0.527													6	123	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120615277	120615277	+	Silent	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:120615277G>A	ENST00000300648.6	-	9	823	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	271					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.L271L(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACTCCTCAGTAAGGACTTC	0.448													19	66	---	---	---	---
METTL3	56339	broad.mit.edu	37	14	21971365	21971365	+	Nonstop_Mutation	SNP	A	A	C			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr14:21971365A>C	ENST00000538267.1	-	4	576	c.460T>G	c.(460-462)Tag>Gag	p.*154E	METTL3_ENST00000298717.4_Missense_Mutation_p.I225R			Q86U44	MTA70_HUMAN	methyltransferase like 3	0					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	p.I225R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AAGGCTCTCTATCTCCAGATC	0.443													97	210	---	---	---	---
SPSB3	90864	broad.mit.edu	37	16	1831441	1831441	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr16:1831441A>G	ENST00000566339.1	-	2	374	c.44T>C	c.(43-45)cTg>cCg	p.L15P	SPSB3_ENST00000301717.4_Missense_Mutation_p.L15P	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	15					intracellular signal transduction			p.L15P(1)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGCTGCACTCAGGACGAAGTG	0.617													16	19	---	---	---	---
CCDC135	84229	broad.mit.edu	37	16	57756742	57756742	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr16:57756742A>G	ENST00000360716.3	+	11	1618	c.1397A>G	c.(1396-1398)gAg>gGg	p.E466G	CCDC135_ENST00000336825.8_Missense_Mutation_p.E401G|CCDC135_ENST00000394337.4_Missense_Mutation_p.E466G			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	466						cytoplasm		p.E466G(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCACCTATGAGGACTTGCAG	0.597													3	75	---	---	---	---
AFG3L2	10939	broad.mit.edu	37	18	12340252	12340252	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr18:12340252G>T	ENST00000269143.3	-	15	2159	c.1928C>A	c.(1927-1929)aCa>aAa	p.T643K		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	643					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.T643K(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGCACCAGTTGTAATTCTTCC	0.393													10	272	---	---	---	---
SLC5A5	6528	broad.mit.edu	37	19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602													76	154	---	---	---	---
FTCD	10841	broad.mit.edu	37	21	47570139	47570139	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr21:47570139G>T	ENST00000397748.1	-	7	843	c.800C>A	c.(799-801)tCa>tAa	p.S267*	FTCD_ENST00000355384.2_Nonsense_Mutation_p.S267*|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Nonsense_Mutation_p.S267*|FTCD_ENST00000291670.5_Nonsense_Mutation_p.S267*|FTCD_ENST00000397746.3_Nonsense_Mutation_p.S267*|FTCD_ENST00000359679.2_Nonsense_Mutation_p.S267*			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	267	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	p.S267*(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CACCAGCTGTGAGCCCACCAC	0.672													3	18	---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18842131	18842131	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chrX:18842131A>G	ENST00000361511.4	+	17	2086	c.1592A>G	c.(1591-1593)aAc>aGc	p.N531S	PPEF1_ENST00000359763.6_Missense_Mutation_p.N478S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.N469S|PPEF1_ENST00000544635.1_Missense_Mutation_p.N466S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	531					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.N531S(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AATCTGGTAAACATAGACCAA	0.423													97	51	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140751730	140751739	+	Frame_Shift_Del	DEL	AGGTGGTGGC	AGGTGGTGGC	-			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr5:140751730_140751739delAGGTGGTGGC	ENST00000576222.1	+	1	1900_1909	c.1769_1778delAGGTGGTGGC	c.(1768-1779)aaggtggtggcgfs	p.KVVA590fs	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGACCAAGGTGGTGGCGGTGGACGCA	0.657													20	81	---	---	---	---
B3GNT4	79369	broad.mit.edu	37	12	122691205	122691209	+	Frame_Shift_Del	DEL	CTATC	CTATC	-			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:122691205_122691209delCTATC	ENST00000535274.1	+	1	2059_2063	c.332_336delCTATC	c.(331-336)gctatcfs	p.AI111fs	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Del_p.AI111fs|B3GNT4_ENST00000324189.4_Frame_Shift_Del_p.AI136fs			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	136					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.I137M(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CGACGTGCGGCTATCCGCAGCACGT	0.629													9	169	---	---	---	---
B3GNT4	79369	broad.mit.edu	37	12	122691220	122691221	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:122691220_122691221insCT	ENST00000535274.1	+	1	2074_2075	c.347_348insCT	c.(346-351)tggggcfs	p.WG116fs	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Ins_p.WG116fs|B3GNT4_ENST00000324189.4_Frame_Shift_Ins_p.WG141fs			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	141					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CGCAGCACGTGGGGCAGGGTGG	0.644													22	131	---	---	---	---
