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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CTNND2	1501	broad.mit.edu	37	5	11159811	11159811	+	Missense_Mutation	SNP	A	G	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr5:11159811A>G	uc003jfa.1	-	11	2181	c.2036T>C	c.(2035-2037)cTa>cCa	p.L679P	CTNND2_uc010itt.2_Missense_Mutation_p.L588P|CTNND2_uc011cmy.1_Missense_Mutation_p.L342P|CTNND2_uc011cmz.1_Missense_Mutation_p.L246P|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.L246P	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	679					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGTACTGCTAGGGCATCCTG	0.502000														121			12		0	0	1	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119217605	119217605	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:119217605C>T	uc003ecn.3	+	0	238	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	TIMMDC1_uc003eco.3_Non-coding_Transcript|TIMMDC1_uc003ecp.3_5'Flank	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN	Homo sapiens translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), nuclear gene encoding mitochondrial protein, mRNA.	9						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ACCGGCACCGCGGAGCTTTCT	0.602000														101			76		0	0	1	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119217604	119217604	+	Silent	SNP	G	T	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:119217604G>T	uc003ecn.3	+	0	237	c.24G>T	c.(22-24)ccG>ccT	p.P8P	TIMMDC1_uc003eco.3_Non-coding_Transcript|TIMMDC1_uc003ecp.3_5'Flank	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN	Homo sapiens translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), nuclear gene encoding mitochondrial protein, mRNA.	8						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CACCGGCACCGCGGAGCTTTC	0.602000														100			75		2.14232e-31	2.21374e-31	1	1	0
ORM1	5004	broad.mit.edu	37	9	117086322	117086322	+	Silent	SNP	C	G	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr9:117086322C>G	uc004bik.4	+	2	393	c.282C>G	c.(280-282)acC>acG	p.T94T	ORM1_uc011lxo.2_Silent_p.T94T	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	94					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	TCTATAACACCACCTACCTGA	0.552000														224			30		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179476842	179476842	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:179476842G>A	uc021vsy.1	-	215	42817	c.42592C>T	c.(42592-42594)Cga>Tga	p.R14198*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R7893*|TTN_uc021vta.1_Nonsense_Mutation_p.R7826*|TTN_uc021vtb.1_Nonsense_Mutation_p.R7701*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15125	Fibronectin type-III 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAACATGTCGTTTTGTCACA	0.403000														14			16		0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48561154	48561154	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:48561154T>C	uc003ctv.3	-	10	1219	c.1202A>G	c.(1201-1203)tAc>tGc	p.Y401C	PFKFB4_uc003ctx.3_Missense_Mutation_p.Y358C|PFKFB4_uc010hkb.3_Missense_Mutation_p.Y394C|PFKFB4_uc003ctw.3_Missense_Mutation_p.Y210C|PFKFB4_uc010hkc.3_Missense_Mutation_p.Y366C|PFKFB4_uc011bbm.2_Missense_Mutation_p.Y390C	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	401	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTCGAGGAAGTAGGCCAGCAG	0.602000														39			40		0	0	1	0	0
C12orf71	728858	broad.mit.edu	37	12	27234344	27234344	+	Silent	SNP	G	A	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr12:27234344G>A	uc001rhq.3	-	1	612	c.573C>T	c.(571-573)atC>atT	p.I191I		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	Homo sapiens chromosome 12 open reading frame 71 (C12orf71), mRNA.	191										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GCTCTGACAGGATTGAGGAGA	0.537000														51			55		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31592727	31592727	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:31592727C>T	uc011kae.2	+	1	179	c.167C>T	c.(166-168)gCg>gTg	p.A56V	CCDC129_uc011kad.1_Missense_Mutation_p.A40V|CCDC129_uc003tcj.1_Missense_Mutation_p.A30V|CCDC129_uc003tci.1_Missense_Mutation_p.A29V|CCDC129_uc003tck.1_5'Flank	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	30										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACCAAAAGCGCGTGGGCTCCG	0.537000														7			10		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150553564	150553564	+	Silent	SNP	G	A	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:150553564G>A	uc003why.1	+	2	4224	c.6G>A	c.(4-6)ccG>ccA	p.P2P	ABP1_uc003whz.1_Silent_p.P2P|ABP1_uc003wia.1_Silent_p.P2P	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	2					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	p.P2P(2)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GAGAGATGCCGGCCCTGGGCT	0.607000														35			27		0	0	1	0	0
RAP1A	5906	broad.mit.edu	37	1	112240072	112240072	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:112240072G>A	uc001ebi.3	+	3	240	c.136G>A	c.(136-138)Gtc>Atc	p.V46I	RAP1A_uc001ebk.3_Missense_Mutation_p.V46I|RAP1A_uc001ebl.3_Missense_Mutation_p.V46I	NM_002884	NP_002875	P62834	RAP1A_HUMAN	Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA.	46					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GCAAGTTGAAGTCGATTGCCA	0.358000														32			30		0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48066036	48066036	+	Silent	SNP	A	G	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:48066036A>G	uc002rwe.3	-	3	622	c.549T>C	c.(547-549)tgT>tgC	p.C183C	FBXO11_uc010fbl.3_Silent_p.C99C|FBXO11_uc002rwg.2_Silent_p.C183C|FBXO11_uc021vhe.1_5'Flank	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	183	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAAGCGTTTACATACACAAG	0.368000			"""Mis, F, D"""		DLBCL									27			28		0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785192	134785192	+	Silent	SNP	G	A	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr5:134785192G>A	uc003law.4	-	1	639	c.438C>T	c.(436-438)gaC>gaT	p.D146D	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Silent_p.D146D	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	146										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTCCCATTCGTCAGTTTCCT	0.572000														63			42		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333190	70333190	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:70333190C>T	uc001oqc.3	-	20	3122	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K	SHANK2_uc010rqn.2_Missense_Mutation_p.E480K|SHANK2_uc001opz.3_Missense_Mutation_p.E475K|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	691					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTCAGGCTTTCGTCAGGCCGC	0.701000														47			29		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48686858	48686858	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr8:48686858T>C	uc003xqi.3	-	86	12317	c.12260A>G	c.(12259-12261)aAc>aGc	p.N4087S	PRKDC_uc003xqj.3_Missense_Mutation_p.N4056S	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	4088					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGCACGAATGTTGTGATCTTT	0.512000								Non-homologous end-joining						12			9		0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878974	39878974	+	Missense_Mutation	SNP	C	G	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:39878974C>G	uc009vvt.1	+	0	3799	c.3037C>G	c.(3037-3039)Ccc>Gcc	p.P1013A	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	877	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCAGAGGAGCCCACCTCCCC	0.687000														15			6		0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111539567	111539567	+	Missense_Mutation	SNP	G	C	C			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr4:111539567G>C	uc003iaf.3	-	6	2491	c.668C>G	c.(667-669)tCg>tGg	p.S223W	PITX2_uc003iac.3_Missense_Mutation_p.S230W|PITX2_uc003iad.3_Missense_Mutation_p.S223W|PITX2_uc021xqr.1_Missense_Mutation_p.S223W|PITX2_uc003iae.3_Missense_Mutation_p.S177W|PITX2_uc021xqs.1_Missense_Mutation_p.S177W	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	223					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S230L(1)|p.S223L(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CATGCTGGACGACATGCTCAT	0.547000														38			32		0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73345948	73345948	+	Silent	SNP	C	T	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr13:73345948C>T	uc001vix.4	-	10	1964	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	DIS3_uc001viy.4_Silent_p.V500V|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	530					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CACAAAGATACACAGTTGTTC	0.338000										Multiple Myeloma(4;0.011)				73			7		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38889182	38889182	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:38889182G>A	uc021wvy.1	-	25	4578	c.4379C>T	c.(4378-4380)aCg>aTg	p.T1460M		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1460					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTGAAGAGCGTCGGAGGGAA	0.493000														22			17		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172912	5172912	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:5172912G>A	uc010qyy.2	-	0	688	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R230H(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGCAAACGAAAAACTGTG	0.423000														84			5		0	0	1	0	0
KRT8P41	283102	broad.mit.edu	37	11	9116786	9116786	+	RNA	SNP	T	C	C			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:9116786T>C	uc010rbv.1	+	0		c.877T>C								Homo sapiens keratin 8 pseudogene 41 (KRT8P41), non-coding RNA.																		CAGCAGCCGCTCCCTGGACAT	0.557000														17			3		0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85405252	85405252	+	Missense_Mutation	SNP	A	G	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:85405252A>G	uc001dkm.3	-	8	1335	c.1094T>C	c.(1093-1095)aTg>aCg	p.M365T	MCOLN2_uc001dkn.3_Intron	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	365			M -> V (in dbSNP:rs17117841).			integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTTGATTTCCATTTTTAATAT	0.468000														96			5		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105420865	105420865	+	Missense_Mutation	SNP	G	T	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr10:105420865G>T	uc010qqu.1	-	4	292	c.225C>A	c.(223-225)gaC>gaA	p.D75E	SH3PXD2A_uc010qqr.2_Missense_Mutation_p.D22E|SH3PXD2A_uc010qqs.1_5'UTR|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.D37E|SH3PXD2A_uc009xxn.1_5'UTR|SH3PXD2A_uc001kxj.1_Missense_Mutation_p.D160E	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	160	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGGCGGTGGCGTCGGCACCTG	0.692000														90			83		1.42954e-44	1.58271e-44	1	1	0
ZNF2	7549	broad.mit.edu	37	2	95843249	95843249	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:95843249G>A	uc002suf.3	+	2	517	c.55G>A	c.(55-57)Gtt>Att	p.V19I	ZNF2_uc002sug.3_5'UTR|ZNF2_uc010yue.2_Missense_Mutation_p.V19I|ZNF2_uc010fhs.3_5'UTR	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ATTCGAAGACGTTGCCGTGGT	0.443000														130			46		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				106			84		2.67039e-37	2.85456e-37	1	1	0
FCRL2	79368	broad.mit.edu	37	1	157739926	157739926	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:157739926G>A	uc001fre.2	-	3	384	c.325C>T	c.(325-327)Cct>Tct	p.P109S	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.P109S|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.P109S	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	109	Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTCAGCACAGGACGTTGAAAG	0.532000														23			25		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45688322	45688322	+	Silent	SNP	G	A	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:45688322G>A	uc003tne.4	+	4	1092	c.1074G>A	c.(1072-1074)tcG>tcA	p.S358S	ADCY1_uc003tnd.3_Silent_p.S133S	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	358					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACTGCGTGTCGGGCCTCACCC	0.577000														41			15		0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45876948	45876948	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr21:45876948C>T	uc021wjs.1	+	0	421	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	LRRC3_uc002zfa.3_Missense_Mutation_p.R141C	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	141						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CGCCAAGATACGCCTGTCCCA	0.672000														65			13		0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134050954	134050955	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr8:134050954_134050955delTC	uc011ljd.2	-	6	843_844	c.765_766delGA	c.(763-768)gagaacfs	p.E255fs	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Frame_Shift_Del_p.E215fs|SLA_uc011lje.2_Frame_Shift_Del_p.E232fs|SLA_uc011ljf.2_Frame_Shift_Del_p.E107fs|SLA_uc011ljg.2_Frame_Shift_Del_p.E188fs	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	215	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CCAAGCGGGTTCTCTGTTCCCT	0.530													---	34	---	---	29	---					
ARHGAP32	9743	broad.mit.edu	37	11	129034263	129034263	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:129034263delT	uc009zcp.3	-	1	176	c.176delA	c.(175-177)aatfs	p.N59fs	ARHGAP32_uc009zcq.2_Frame_Shift_Del_p.N19fs	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	59					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGGGTGTACATTTCTATGTAG	0.348													---	4	---	---	2	---					
