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
CPNE9	151835	broad.mit.edu	37	3	9754692	9754692	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr3:9754692A>C	ENST00000383832.3	+	10	769	c.579A>C	c.(577-579)aaA>aaC	p.K193N	CPNE9_ENST00000383831.3_Missense_Mutation_p.K193N	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	193	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					AGGTTGTGAAAAACACGCTGA	0.527													6	19	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165491285	165491285	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr3:165491285T>A	ENST00000264381.3	-	4	1860	c.1694A>T	c.(1693-1695)gAt>gTt	p.D565V	BCHE_ENST00000540653.1_Missense_Mutation_p.D27V	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	565					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTCTGCTTCATCAATATTTCC	0.303													20	52	---	---	---	---
C6	729	broad.mit.edu	37	5	41172406	41172406	+	Silent	SNP	T	T	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr5:41172406T>A	ENST00000263413.3	-	9	1476	c.1212A>T	c.(1210-1212)acA>acT	p.T404T	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.T404T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	404	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CGCGTTTCTTTGTTTCAATCC	0.403													5	53	---	---	---	---
AGGF1	55109	broad.mit.edu	37	5	76332448	76332448	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr5:76332448G>A	ENST00000312916.7	+	4	966	c.584G>A	c.(583-585)aGa>aAa	p.R195K		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	195					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GAAAGTTTGAGAGCTGCAGCA	0.393													4	141	---	---	---	---
ZSCAN16	80345	broad.mit.edu	37	6	28097612	28097612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr6:28097612C>T	ENST00000340487.4	+	4	1080	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	311					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TATTCAGCATCAGAGAATCCA	0.423													5	48	---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90660405	90660405	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr6:90660405G>A	ENST00000257749.4	-	7	2127	c.1420C>T	c.(1420-1422)Ctc>Ttc	p.L474F	BACH2_ENST00000343122.3_Missense_Mutation_p.L474F|BACH2_ENST00000537989.1_Missense_Mutation_p.L474F|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	474						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GAGCTGGGGAGGGACTGGCCG	0.617													17	31	---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123215999	123215999	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr9:123215999G>A	ENST00000349780.4	-	21	2707	c.2528C>T	c.(2527-2529)tCc>tTc	p.S843F	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S843F|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S811F|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S843F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	843					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATGTGGCTTGGAAAATGAGTT	0.458													5	127	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108431072	108431072	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr10:108431072C>G	ENST00000263054.6	-	16	2119	c.2112G>C	c.(2110-2112)gaG>gaC	p.E704D	SORCS1_ENST00000344440.6_Missense_Mutation_p.E704D|SORCS1_ENST00000369698.1_Missense_Mutation_p.E239D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	704						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TACACTTCCGCTCTGATTTTC	0.443													5	80	---	---	---	---
FGFR2	2263	broad.mit.edu	37	10	123325040	123325040	+	Silent	SNP	G	G	A	rs55806379		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr10:123325040G>A	ENST00000358487.5	-	3	560	c.288C>T	c.(286-288)ggC>ggT	p.G96G	FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Silent_p.G96G|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000346997.2_Silent_p.G96G	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	96	Ig-like C2-type 1.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TAGGCGTGGCGCCCTTTATCT	0.522		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				6	123	---	---	---	---
LGR5	8549	broad.mit.edu	37	12	71978097	71978097	+	Silent	SNP	C	C	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr12:71978097C>A	ENST00000266674.5	+	18	2618	c.2307C>A	c.(2305-2307)gcC>gcA	p.A769A	LGR5_ENST00000540815.2_Silent_p.A745A|LGR5_ENST00000536515.1_Silent_p.A697A			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	769						integral to plasma membrane	protein-hormone receptor activity	p.A769A(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AACACATTGCCCTGTTGCTCT	0.433													24	85	---	---	---	---
VPS29	51699	broad.mit.edu	37	12	110930973	110930973	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr12:110930973C>T	ENST00000549578.1	-	3	324	c.259G>A	c.(259-261)Gga>Aga	p.G87R	VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.G119R|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.G91R	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	87					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ACTTGATGTCCATGGATCAGA	0.383													3	46	---	---	---	---
THSD1	55901	broad.mit.edu	37	13	52951824	52951824	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr13:52951824G>A	ENST00000349258.4	-	4	2666	c.2122C>T	c.(2122-2124)Cgg>Tgg	p.R708W	THSD1_ENST00000258613.4_Missense_Mutation_p.R761W|THSD1_ENST00000544466.1_Missense_Mutation_p.R382W	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	761						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GACGGTCCCCGACGAGCTCTG	0.552													13	106	---	---	---	---
ARNT2	9915	broad.mit.edu	37	15	80806707	80806707	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr15:80806707G>C	ENST00000533983.1	+	9	1144	c.805G>C	c.(805-807)Gtc>Ctc	p.V269L	ARNT2_ENST00000527771.1_Missense_Mutation_p.V269L|ARNT2_ENST00000303329.4_Missense_Mutation_p.V280L			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	280					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATATGCTGTGGTCCACTGTAC	0.488													55	121	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3817735	3817735	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr16:3817735T>C	ENST00000262367.5	-	16	4045	c.3236A>G	c.(3235-3237)cAg>cGg	p.Q1079R	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1041R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1079					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTGCGCGGCTGCGAAGGAGA	0.418			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	110	---	---	---	---
COIL	8161	broad.mit.edu	37	17	55028138	55028138	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr17:55028138A>C	ENST00000240316.4	-	2	499	c.465T>G	c.(463-465)gaT>gaG	p.D155E		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	155						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TGACAGTCTGATCTGTGACAG	0.388													4	165	---	---	---	---
POU2F2	5452	broad.mit.edu	37	19	42597984	42597984	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr19:42597984T>G	ENST00000389341.5	-	12	1213	c.1147A>C	c.(1147-1149)Aca>Cca	p.T383P	POU2F2_ENST00000533720.1_Missense_Mutation_p.T383P|POU2F2_ENST00000529952.1_Missense_Mutation_p.T399P|POU2F2_ENST00000529067.1_Missense_Mutation_p.T383P|POU2F2_ENST00000560398.1_Missense_Mutation_p.T405P|POU2F2_ENST00000526816.2_Missense_Mutation_p.T399P|POU2F2_ENST00000342301.4_Missense_Mutation_p.T399P|POU2F2_ENST00000560558.1_Missense_Mutation_p.T344P	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	399					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CCCTGACCTGTTGTGCTCAGA	0.607													5	142	---	---	---	---
POU2F2	5452	broad.mit.edu	37	19	42597985	42597985	+	Silent	SNP	T	T	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr19:42597985T>C	ENST00000389341.5	-	12	1212	c.1146A>G	c.(1144-1146)acA>acG	p.T382T	POU2F2_ENST00000533720.1_Silent_p.T382T|POU2F2_ENST00000529952.1_Silent_p.T398T|POU2F2_ENST00000529067.1_Silent_p.T382T|POU2F2_ENST00000560398.1_Silent_p.T404T|POU2F2_ENST00000526816.2_Silent_p.T398T|POU2F2_ENST00000342301.4_Silent_p.T398T|POU2F2_ENST00000560558.1_Silent_p.T343T	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	398					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CCTGACCTGTTGTGCTCAGAC	0.612													5	141	---	---	---	---
PNMAL2	57469	broad.mit.edu	37	19	46997772	46997772	+	Silent	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr19:46997772C>T	ENST00000599531.1	-	1	1983	c.951G>A	c.(949-951)caG>caA	p.Q317Q	AC011484.1_ENST00000377652.3_5'UTR|PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	317										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCCCACTTTCCTGCGAGTCGC	0.597													10	86	---	---	---	---
DEFB118	117285	broad.mit.edu	37	20	29960700	29960700	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr20:29960700C>G	ENST00000253381.2	+	2	132	c.99C>G	c.(97-99)caC>caG	p.H33Q		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	33					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GATCAGGGCACTGCAGGAAAC	0.418													4	43	---	---	---	---
SH3TC2	79628	broad.mit.edu	37	5	148407722	148407722	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr5:148407722delA	ENST00000538184.1	-	7	1102	c.214delT	c.(214-216)tggfs	p.W72fs	SH3TC2_ENST00000394358.2_Frame_Shift_Del_p.W410fs|SH3TC2_ENST00000512049.1_Frame_Shift_Del_p.W518fs|SH3TC2_ENST00000515425.1_Frame_Shift_Del_p.W525fs			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	525							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGGGCCCAGGTCATGTGG	0.547													55	86	---	---	---	---
