Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CAMK2D	817	broad.mit.edu	37	4	114421631	114421631	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:114421631C>T	ENST00000454265.2	-	16	1954	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	CAMK2D_ENST00000342666.5_Missense_Mutation_p.E341K|CAMK2D_ENST00000508738.1_Missense_Mutation_p.E352K|CAMK2D_ENST00000515496.1_Missense_Mutation_p.E352K|CAMK2D_ENST00000379773.2_Missense_Mutation_p.E341K|CAMK2D_ENST00000505990.1_Missense_Mutation_p.E375K|CAMK2D_ENST00000418639.2_Missense_Mutation_p.E355K|CAMK2D_ENST00000429180.1_Missense_Mutation_p.E361K|CAMK2D_ENST00000394524.3_Missense_Mutation_p.E341K|CAMK2D_ENST00000394526.2_Missense_Mutation_p.E352K|CAMK2D_ENST00000514328.1_Missense_Mutation_p.E340K|CAMK2D_ENST00000296402.5_Missense_Mutation_p.E341K|CAMK2D_ENST00000511664.1_Missense_Mutation_p.E375K|CAMK2D_ENST00000394522.3_Missense_Mutation_p.E355K			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	341					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTCACATCTTCATCCTCAATT	0.318000													4	18					0	0	0.00024832	0	0
TMEM131	23505	broad.mit.edu	37	2	98408979	98408979	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:98408979C>T	ENST00000186436.5	-	31	4242	c.4014G>A	c.(4012-4014)gcG>gcA	p.A1338A		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1338						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AACTGTGCCTCGCGCTGCTGG	0.622000													11	10					0	0	0.000673444	0	0
CD37	951	broad.mit.edu	37	19	49838985	49838985	+	Silent	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:49838985G>C	ENST00000535669.2	+	2	198	c.84G>C	c.(82-84)ctG>ctC	p.L28L	CD37_ENST00000596426.1_3'UTR|CD37_ENST00000598095.1_5'UTR|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000426897.2_5'UTR|CD37_ENST00000323906.4_Silent_p.L28L			P11049	CD37_HUMAN	CD37 molecule	28						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		TCGGCAGCCTGATCTTCTGCT	0.662000													53	345					0	0	0.000781405	0	0
NBN	4683	broad.mit.edu	37	8	90990548	90990548	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr8:90990548T>C	ENST00000265433.3	-	5	638	c.484A>G	c.(484-486)Ata>Gta	p.I162V	NBN_ENST00000409330.1_Missense_Mutation_p.I80V	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	162	BRCT.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AGTGCACATATTGTCTACAAT	0.333000								Homologous recombination					7	40					0	0	0.000157383	0	0
BRIP1	83990	broad.mit.edu	37	17	59761073	59761073	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:59761073C>G	ENST00000259008.2	-	20	3601	c.3334G>C	c.(3334-3336)Gat>Cat	p.D1112H		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1112					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GACTGTTTATCTTCTTCACTT	0.368000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					22	44					0	0	0.00152264	0	0
HADHB	3032	broad.mit.edu	37	2	26501592	26501592	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:26501592G>C	ENST00000317799.5	+	8	657	c.553G>C	c.(553-555)Gat>Cat	p.D185H	HADHB_ENST00000545822.1_Missense_Mutation_p.D163H|HADHB_ENST00000537713.1_Missense_Mutation_p.D170H|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	185					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGATGCTTGATCTCAATAA	0.453000													10	74					0	0	0.000442599	0	0
GNAI3	2773	broad.mit.edu	37	1	110121883	110121883	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:110121883C>G	ENST00000369851.4	+	4	471	c.361C>G	c.(361-363)Cca>Gca	p.P121A		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	121					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		AGTCATGACTCCAGAACTAGC	0.448000													26	44					0	0	0.000878237	0	0
SYCP2L	221711	broad.mit.edu	37	6	10964018	10964018	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:10964018C>G	ENST00000283141.6	+	29	2714	c.2418C>G	c.(2416-2418)ttC>ttG	p.F806L	SYCP2L_ENST00000465872.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	806						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CTTCCAGGTTCAATTCAACTC	0.368000													8	32					0	0	0.000274275	0	0
SETMAR	6419	broad.mit.edu	37	3	4354714	4354714	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:4354714G>A	ENST00000358065.4	+	2	356	c.289G>A	c.(289-291)Gat>Aat	p.D97N	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.D97N|SETMAR_ENST00000425863.1_Missense_Mutation_p.D97N|SETMAR_ENST00000462115.1_3'UTR	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	84	Histone-lysine N-methyltransferase.|Pre-SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		AGAGAACTATGATGATAACTC	0.473000								Chromatin Structure					18	25					0	0	0.000566183	0	0
CEP120	153241	broad.mit.edu	37	5	122718550	122718550	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:122718550G>C	ENST00000306467.5	-	13	2198	c.1894C>G	c.(1894-1896)Ctt>Gtt	p.L632V	CEP120_ENST00000328236.5_Missense_Mutation_p.L632V|CEP120_ENST00000306481.6_Missense_Mutation_p.L606V			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	632						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GCTGGAGGAAGAGAAGACGGC	0.423000													4	42					0	0	0.00024832	0	0
FAM155B	27112	broad.mit.edu	37	X	68725797	68725797	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chrX:68725797G>A	ENST00000252338.4	+	1	714	c.672G>A	c.(670-672)ctG>ctA	p.L224L		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	224						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TGGACACCCTGATGGGGGACC	0.657000													7	13					0	0	0.00198382	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321077	79321077	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr9:79321077G>C	ENST00000428286.1	-	8	6236	c.5036C>G	c.(5035-5037)tCt>tGt	p.S1679C	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2038C			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2038					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACTTGGGGTAGAGCCATCCCA	0.512000													9	34					0	0	0.000673444	0	0
MACF1	23499	broad.mit.edu	37	1	39924141	39924141	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:39924141G>C	ENST00000564288.1	+	90	21952	c.21175G>C	c.(21175-21177)Gag>Cag	p.E7059Q	MACF1_ENST00000361689.2_Missense_Mutation_p.E5000Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E5000Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E5502Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E6958Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E7096Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E4870Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E5000Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6958	EF-hand 1.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	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)			GCCTTTCATAGAGAAATCCCG	0.478000													6	40					0	0	0.00198382	0	0
STK4	6789	broad.mit.edu	37	20	43653652	43653652	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:43653652C>G	ENST00000372806.3	+	10	1281	c.1186C>G	c.(1186-1188)Ctt>Gtt	p.L396V	STK4_ENST00000372801.1_Missense_Mutation_p.L396V|STK4_ENST00000396731.4_Missense_Mutation_p.L396V|STK4_ENST00000499879.2_Missense_Mutation_p.L341V	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	396					apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				ACCATCCTTTCTTGAATATTT	0.338000													9	23					0	0	0.000442599	0	0
AKAP9	10142	broad.mit.edu	37	7	91690733	91690733	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr7:91690733G>A	ENST00000359028.2	+	24	6022	c.5797G>A	c.(5797-5799)Gag>Aag	p.E1933K	AKAP9_ENST00000358100.2_Missense_Mutation_p.E1933K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1921K|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1933	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGTAAGGCTGAGGGTGAGCA	0.473000			T	BRAF	papillary thyroid								7	25					0	0	0.000274275	0	0
IMPG1	3617	broad.mit.edu	37	6	76728533	76728533	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:76728533C>G	ENST00000369950.3	-	7	898	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	237	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ACGCTGAGCTCCACCCTCTGC	0.448000													11	45					0	0	0.000978159	0	0
FRAS1	80144	broad.mit.edu	37	4	79410220	79410220	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:79410220C>G	ENST00000264895.6	+	59	9384	c.8944C>G	c.(8944-8946)Ctc>Gtc	p.L2982V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2977	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GATTACATTTCTCAAAGGGGA	0.398000													6	19					0	0	0.00198382	0	0
FSTL4	23105	broad.mit.edu	37	5	132535044	132535044	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:132535044C>G	ENST00000265342.7	-	16	2521	c.2272G>C	c.(2272-2274)Gag>Cag	p.E758Q	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	758						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTCCGGCTCCGTGTGCAGA	0.582000													6	39					0	0	0.00198382	0	0
ZNF486	90649	broad.mit.edu	37	19	20308138	20308138	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:20308138G>C	ENST00000335117.8	+	4	676	c.619G>C	c.(619-621)Gag>Cag	p.E207Q	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TGATACTGGAGAGAAACCATA	0.358000													7	39					0	0	0.000157383	0	0
CFHR2	3080	broad.mit.edu	37	1	196927143	196927143	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:196927143G>C	ENST00000367415.5	+	4	653	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	CFHR2_ENST00000367421.3_Missense_Mutation_p.E185Q|CFHR2_ENST00000476712.2_Missense_Mutation_p.E169Q|CFHR2_ENST00000496448.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2		Sushi 3.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GTATCAACTTGAGGGTAACAA	0.393000													18	125					0	0	0.00121646	0	0
EXPH5	23086	broad.mit.edu	37	11	108412512	108412512	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:108412512G>C	ENST00000265843.4	-	2	257	c.147C>G	c.(145-147)atC>atG	p.I49M	EXPH5_ENST00000428840.1_De_novo_Start_InFrame|EXPH5_ENST00000525344.1_Missense_Mutation_p.I42M	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	49					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAAGCCATCTGATATCCCTCT	0.313000													14	273					0	0	0.00244969	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29959898	29959898	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chrX:29959898A>T	ENST00000378993.1	+	9	1861	c.1188A>T	c.(1186-1188)gaA>gaT	p.E396D	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E396D	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	396					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTGGAGCTGAAGAGCTCGATG	0.373000													8	27					0	0	0.000274275	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190095	233190095	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:233190095C>G	ENST00000258229.9	-	25	4504	c.4270G>C	c.(4270-4272)Gat>Cat	p.D1424H	PCNXL2_ENST00000344698.2_Missense_Mutation_p.D76H	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTGAGGTCATCTGAAGCCAAA	0.453000													3	18					0	0	6.4e-05	0	0
TREX1	11277	broad.mit.edu	37	3	48507918	48507918	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:48507918G>C	ENST00000422277.2	+	1	690	c.29G>C	c.(28-30)aGg>aCg	p.R10T	TREX1_ENST00000433541.1_Intron|TREX1_ENST00000492235.1_Intron|TREX1_ENST00000436480.2_Intron|TREX1_ENST00000444177.1_Intron|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000296443.9_Intron	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	10					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGACAGGGCAGGATTGTGCAG	0.597000													6	55					0	0	0.00116845	0	0
ACSL3	2181	broad.mit.edu	37	2	223797946	223797946	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:223797946G>A	ENST00000357430.3	+	15	2326	c.1795G>A	c.(1795-1797)Gca>Aca	p.A599T	ACSL3_ENST00000392066.3_Missense_Mutation_p.A599T	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	599					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GAAAGTAGAGGCAGCTTTGAA	0.373000			T	ETV1	prostate								14	26					0	0	0.000422831	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTCTTCCTCTGTGCGCCGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	20					0	0	0.000422831	0	0
MYL12B	103910	broad.mit.edu	37	18	3273062	3273062	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr18:3273062G>C	ENST00000581193.1	+	2	549	c.166G>C	c.(166-168)Gat>Cat	p.D56H	MYL12B_ENST00000400175.5_Missense_Mutation_p.D56H|MYL12B_ENST00000237500.5_Missense_Mutation_p.D56H|MYL12B_ENST00000584539.1_Missense_Mutation_p.D56H	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	56	EF-hand 1.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						AGATTTGCATGATATGCTTGC	0.348000													28	117					0	0	0.001512	0	0
GPR37L1	9283	broad.mit.edu	37	1	202092623	202092623	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:202092623C>G	ENST00000367282.5	+	1	638	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1							integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CTGGGATTTTCTGGTCCTCTT	0.542000													8	28					0	0	0.000274275	0	0
PYGM	5837	broad.mit.edu	37	11	64525362	64525362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:64525362C>T	ENST00000164139.3	-	5	947	c.549G>A	c.(547-549)tgG>tgA	p.W183*	PYGM_ENST00000377432.3_Nonsense_Mutation_p.W95*	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	183					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CGTAGCGAAGCCAGTCATCGG	0.642000													12	30					0	0	0.00136819	0	0
APOL6	80830	broad.mit.edu	37	22	36054800	36054800	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr22:36054800C>T	ENST00000409652.4	+	3	465	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6						lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TCCGTGCCCTCGCAGACGATA	0.458000													9	31					0	0	0.000274275	0	0
DDX46	9879	broad.mit.edu	37	5	134152222	134152222	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:134152222G>A	ENST00000452510.2	+	19	2697	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	DDX46_ENST00000354283.4_Missense_Mutation_p.E847K	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	847					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGAAATGCTGAGAAATTAGA	0.393000													6	24					0	0	0.00116845	0	0
CCDC64B	146439	broad.mit.edu	37	16	3085468	3085468	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:3085468C>T	ENST00000572449.1	-	2	92	c.30G>A	c.(28-30)ccG>ccA	p.P10P	RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Silent_p.P10P			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	10										breast(1)|endometrium(2)|large_intestine(1)	4						GCGGCCCGGACGGGAAGCTGG	0.692000													10	32					0	0	0.00136819	0	0
SHANK2	22941	broad.mit.edu	37	11	70331708	70331708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:70331708G>A	ENST00000338508.4	-	32	4692	c.4693C>T	c.(4693-4695)Caa>Taa	p.Q1565*	SHANK2_ENST00000409161.1_Nonsense_Mutation_p.Q968*|SHANK2_ENST00000423696.2_Nonsense_Mutation_p.Q1185*|SHANK2_ENST00000449833.2_Nonsense_Mutation_p.Q969*			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1185					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain 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)			AGCGCGTCTTGATAAAGTGCA	0.542000													34	100					0	0	0.00111076	0	0
ANXA13	312	broad.mit.edu	37	8	124696898	124696898	+	Silent	SNP	C	C	T	rs147326972	byFrequency	TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr8:124696898C>T	ENST00000262219.6	-	11	973	c.906G>A	c.(904-906)gcG>gcA	p.A302A	ANXA13_ENST00000419625.1_Silent_p.A261A	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	261					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			CATCGGTCCCCGCACCCTTCA	0.517000													6	80					0	0	0.00116845	0	0
POLQ	10721	broad.mit.edu	37	3	121202402	121202402	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:121202402G>C	ENST00000264233.5	-	18	5929	c.5801C>G	c.(5800-5802)tCt>tGt	p.S1934C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1934					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGGATCTAAAGAAGGTGGAAC	0.333000								DNA polymerases (catalytic subunits)					8	36					0	0	0.000274275	0	0
MCCD1	401250	broad.mit.edu	37	6	31496850	31496850	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:31496850C>T	ENST00000376191.2	+	1	357	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	20						mitochondrion				skin(1)	1						CTTCTGCCCTCCTGGTCCTTG	0.617000													29	77					0	0	0.00209593	0	0
FCRL1	115350	broad.mit.edu	37	1	157773804	157773804	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:157773804G>T	ENST00000358292.3	-	3	201	c.150C>A	c.(148-150)ttC>ttA	p.F50L	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.F50L|FCRL1_ENST00000368176.3_Missense_Mutation_p.F50L	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	50	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGCAGAACTGGAACTGGGCAT	0.567000													11	115					3.86212e-05	0.000196424	0.000673444	1	0
CYP2E1	1571	broad.mit.edu	37	10	135351380	135351380	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr10:135351380C>G	ENST00000463117.2	+	10	1553	c.1281C>G	c.(1279-1281)ttC>ttG	p.F427L	CYP2E1_ENST00000252945.3_Missense_Mutation_p.F427L|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	427					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GTGACTATTTCAAGCCATTTT	0.453000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				10	9					0	0	0.000442599	0	0
ANO2	57101	broad.mit.edu	37	12	5941702	5941702	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr12:5941702G>C	ENST00000356134.5	-	6	763	c.692C>G	c.(691-693)tCg>tGg	p.S231W	ANO2_ENST00000327087.8_Missense_Mutation_p.S230W|ANO2_ENST00000546188.1_Missense_Mutation_p.S231W	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	235						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGCAGGTGCGAGCTCAGCTT	0.507000													18	27					0	0	0.000958276	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103182627	103182627	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:103182627G>C	ENST00000375735.2	+	79	11658	c.11514G>C	c.(11512-11514)aaG>aaC	p.K3838N	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K3845N|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3838	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.K1278N(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTTAAAGAAGAATTTAATGC	0.323000													9	54					0	0	0.000442599	0	0
ENPP3	5169	broad.mit.edu	37	6	132061509	132061509	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:132061509G>C	ENST00000414305.1	+	25	2774	c.2446G>C	c.(2446-2448)Gag>Cag	p.E816Q	ENPP3_ENST00000357639.3_Missense_Mutation_p.E816Q|ENPP3_ENST00000358229.5_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	816	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TACCAACGTGGAGAGCTGTCC	0.502000													6	36					0	0	0.00198382	0	0
IFT80	57560	broad.mit.edu	37	3	160021733	160021733	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:160021733C>A	ENST00000326448.7	-	11	1553	c.1121G>T	c.(1120-1122)gGa>gTa	p.G374V	IFT80_ENST00000483465.1_Missense_Mutation_p.G237V|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.G545V|IFT80_ENST00000496589.1_Missense_Mutation_p.G237V	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	374						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACTAACAGTTCCTTCTTTGAG	0.279000													8	30					2.17888e-05	0.000111081	0.000442599	1	0
IRX5	10265	broad.mit.edu	37	16	54967655	54967655	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:54967655G>C	ENST00000394636.4	+	3	1659	c.1322G>C	c.(1321-1323)gGa>gCa	p.G441A	IRX5_ENST00000560154.1_Missense_Mutation_p.G221A|IRX5_ENST00000558597.1_Missense_Mutation_p.G375A|IRX5_ENST00000320990.5_Missense_Mutation_p.G440A			P78411	IRX5_HUMAN	iroquois homeobox 5	441					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	p.G441V(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CATTTCAATGGATTAAACCAG	0.572000													10	34					0	0	0.000673444	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835177	27835177	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:27835177G>C	ENST00000331442.3	-	1	182	c.131C>G	c.(130-132)tCa>tGa	p.S44*		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	44	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GATCAGCTCTGAGACTGGGGG	0.622000													45	54					0	0	0.0025221	0	0
ZNF208	7757	broad.mit.edu	37	19	22154188	22154188	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:22154188C>G	ENST00000397126.4	-	4	3796	c.3648G>C	c.(3646-3648)aaG>aaC	p.K1216N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATGAATTTTCTTGTGATATC	0.383000													4	40					0	0	0.000602214	0	0
DICER1	23405	broad.mit.edu	37	14	95579470	95579470	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr14:95579470G>C	ENST00000526495.1	-	14	2290	c.1999C>G	c.(1999-2001)Ctt>Gtt	p.L667V	DICER1_ENST00000393063.1_Missense_Mutation_p.L667V|DICER1_ENST00000343455.3_Missense_Mutation_p.L667V|DICER1_ENST00000541352.1_Missense_Mutation_p.L667V|DICER1_ENST00000527414.1_Missense_Mutation_p.L667V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	667	Dicer dsRNA-binding fold.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGCAGATAAAGAGTTGAATAA	0.363000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				6	67					0	0	0.00116845	0	0
KAL1	3730	broad.mit.edu	37	X	8504983	8504983	+	Splice_Site	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chrX:8504983C>T	ENST00000262648.3	-	11	1599	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	484	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ATGTAATTTTCCTAGAGCAAG	0.358000													9	8					0	0	0.000442599	0	0
AXIN2	8313	broad.mit.edu	37	17	63537676	63537676	+	Splice_Site	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:63537676C>G	ENST00000307078.5	-	4	1270		c.e4-1		AXIN2_ENST00000375702.5_Splice_Site|CTD-2535L24.2_ENST00000577662.1_Splice_Site	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2						cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						AATTCCATCTCTAAGGGAAAG	0.488000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				8	48					0	0	0.000157383	0	0
CROCCP2	84809	broad.mit.edu	37	1	16959698	16959698	+	RNA	SNP	G	G	A	rs9730434	by1000genomes	TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:16959698G>A	ENST00000412962.1	-	0	74																		p.H56H(4)									GGTCCTTCTCGTGGAGCACCT	0.657000													13	24					0	0	0.00185496	0	0
NR1D2	9975	broad.mit.edu	37	3	24018793	24018793	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:24018793G>A	ENST00000312521.4	+	8	1942	c.1623G>A	c.(1621-1623)atG>atA	p.M541I	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	541					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						CCTTAATAATGAAAAACCATC	0.413000													6	29					0	0	0.00116845	0	0
ACACA	31	broad.mit.edu	37	17	35641768	35641768	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:35641768G>A	ENST00000353139.5	-	4	923	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	ACACA_ENST00000416895.1_3'UTR|ACACA_ENST00000360679.3_Missense_Mutation_p.R53C|ACACA_ENST00000394406.2_Missense_Mutation_p.R111C|ACACA_ENST00000335166.5_Missense_Mutation_p.R33C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	111	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCCCCAAAGCGAGTAACAAAT	0.403000													8	77					0	0	0.000274275	0	0
MCF2L2	23101	broad.mit.edu	37	3	183029466	183029466	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:183029466T>G	ENST00000328913.3	-	8	1145	c.848A>C	c.(847-849)aAc>aCc	p.N283T	MCF2L2_ENST00000447025.2_Missense_Mutation_p.N283T|MCF2L2_ENST00000414362.2_Missense_Mutation_p.N283T|MCF2L2_ENST00000473233.1_Missense_Mutation_p.N283T	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	283					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTCAAGTTGGTTGAGATTGAG	0.438000													12	115					0	0	0.00244969	0	0
PROS1	5627	broad.mit.edu	37	3	93605265	93605265	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:93605265A>G	ENST00000394236.3	-	11	1554	c.1238T>C	c.(1237-1239)cTt>cCt	p.L413P	PROS1_ENST00000407433.1_Missense_Mutation_p.L282P	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	413	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CGGCTTAAAAAGGGGTCCAGG	0.363000													17	103					0	0	0.00074312	0	0
FREM1	158326	broad.mit.edu	37	9	14841450	14841450	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr9:14841450G>A	ENST00000380881.4	-	11	2694	c.1879C>T	c.(1879-1881)Cca>Tca	p.P627S	FREM1_ENST00000422223.2_Missense_Mutation_p.P626S|FREM1_ENST00000380880.3_Missense_Mutation_p.P626S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	626					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTACCTGTGGCACTGAAAGA	0.388000													12	10					0	0	0.000978159	0	0
C2CD3	26005	broad.mit.edu	37	11	73809142	73809142	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:73809142C>G	ENST00000334126.7	-	16	3117	c.2891G>C	c.(2890-2892)aGa>aCa	p.R964T	C2CD3_ENST00000313663.7_Missense_Mutation_p.R964T			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	964						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATTCTTTAATCTTTGTAGTGC	0.448000													20	54					0	0	0.00152264	0	0
ZNF571	51276	broad.mit.edu	37	19	38055669	38055669	+	Missense_Mutation	SNP	C	C	G	rs138967947		TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:38055669C>G	ENST00000328550.2	-	4	1760	c.1661G>C	c.(1660-1662)gGa>gCa	p.G554A	ZNF571_ENST00000358744.3_Missense_Mutation_p.G554A|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.G554A|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.G554A|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF540_ENST00000592533.1_Intron			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGTTTCTCTCCAGTATGAGT	0.433000													24	42					0	0	0.00047179	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756387	49756387	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:49756387G>T	ENST00000535833.1	-	10	3962	c.512C>A	c.(511-513)tCg>tAg	p.S171*	RNF123_ENST00000497099.1_Intron|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Nonsense_Mutation_p.S171*|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000327697.6_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	171					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GAAGGAGAACGAGGCGAGTTC	0.617000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	64					0.000978159	0.00488163	0.000978159	1	0
ALDH3A1	218	broad.mit.edu	37	17	19642385	19642385	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:19642385C>G	ENST00000457500.2	-	8	1469	c.1140G>C	c.(1138-1140)gaG>gaC	p.E380D	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.E380D|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.E316D|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.E380D|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.E307D	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	380					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CACTGGATGTCTCTGCAATCA	0.627000													9	33					0	0	0.000442599	0	0
KNOP1	400506	broad.mit.edu	37	16	19725652	19725652	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:19725652C>G	ENST00000219837.7	-	2	784	c.706G>C	c.(706-708)Gag>Cag	p.E236Q	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		GGGCTGCTCTCCATGGACCTG	0.507000													8	52					0	0	0.000157383	0	0
SPAG9	9043	broad.mit.edu	37	17	49067207	49067207	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:49067207C>T	ENST00000262013.7	-	21	2852	c.2644G>A	c.(2644-2646)Gat>Aat	p.D882N	SPAG9_ENST00000357122.4_Missense_Mutation_p.D868N|SPAG9_ENST00000505279.1_Missense_Mutation_p.D872N|SPAG9_ENST00000510283.1_Missense_Mutation_p.D725N	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	882					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ACATTTTCATCAACCTCACTA	0.438000													21	71					0	0	0.00188189	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73142257	73142257	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:73142257C>T	ENST00000545377.1	+	12	1768	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	ARHGEF28_ENST00000437974.1_Missense_Mutation_p.S531F|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.S531F|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.S531F|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.S218F|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.S531F|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.S531F|ARHGEF28_ENST00000513841.1_3'UTR	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		TTTAATATCTCCAGGGCTGAA	0.413000													5	32					0	0	0.00116845	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128887212	128887212	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chrX:128887212C>G	ENST00000371106.3	+	11	1287	c.1095C>G	c.(1093-1095)ctC>ctG	p.L365L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	365					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGCCCTCCTCAAGGCCAGCC	0.537000													19	54					0	0	0.00074312	0	0
LCT	3938	broad.mit.edu	37	2	136566208	136566208	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:136566208C>T	ENST00000264162.2	-	8	3719	c.3709G>A	c.(3709-3711)Gac>Aac	p.D1237N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1237	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CACGAAGGGTCCTCCTCCTCA	0.562000													15	78					0	0	0.00244969	0	0
PPL	5493	broad.mit.edu	37	16	4935222	4935222	+	Missense_Mutation	SNP	C	C	T	rs74787749	by1000genomes	TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:4935222C>T	ENST00000345988.2	-	22	3523	c.3434G>A	c.(3433-3435)cGc>cAc	p.R1145H	PPL_ENST00000590782.2_Missense_Mutation_p.R1143H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1145					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTGGCTAGCGCGAGCCTTGGC	0.612000													10	69					0	0	0.00136819	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188017	70188017	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:70188017C>G	ENST00000320256.4	-	1	1380	c.804G>C	c.(802-804)ctG>ctC	p.L268L		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	268	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						ACTGTGCCTTCAGCTTCAGCT	0.547000													21	52					0	0	0.00278032	0	0
CMYA5	202333	broad.mit.edu	37	5	79057633	79057633	+	Splice_Site	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:79057633G>C	ENST00000446378.2	+	8	11291		c.e8-1		CMYA5_ENST00000505466.1_Splice_Site	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5							perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTTATGCTAGAGTTGGTAGA	0.363000													3	11					0	0	6.4e-05	0	0
FLRT2	23768	broad.mit.edu	37	14	86088193	86088193	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr14:86088193G>A	ENST00000330753.4	+	2	1102	c.335G>A	c.(334-336)aGa>aAa	p.R112K	FLRT2_ENST00000554746.1_Missense_Mutation_p.R112K	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	112					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAGAATGTCAGAGTTCTCCAT	0.488000													27	59					0	0	0.00106085	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39382934	39382934	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:39382934C>T	ENST00000377721.3	+	1	35	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	KRTAP9-2_ENST00000455970.2_Nonsense_Mutation_p.Q10*	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	10	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCCTTGCTGTCAGCCTACCTG	0.617000													14	132					0	0	0.00185496	0	0
ZNF571	51276	broad.mit.edu	37	19	38055683	38055683	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:38055683C>G	ENST00000328550.2	-	4	1746	c.1647G>C	c.(1645-1647)ctG>ctC	p.L549L	ZNF571_ENST00000358744.3_Silent_p.L549L|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000451802.2_Silent_p.L549L|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000593133.1_Silent_p.L549L|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF540_ENST00000592533.1_Intron			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGAGTTCTCAGATGTTCAG	0.428000													24	47					0	0	0.000878237	0	0
MYH11	4629	broad.mit.edu	37	16	15814781	15814781	+	Missense_Mutation	SNP	A	A	G	rs145074004		TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:15814781A>G	ENST00000452625.2	-	34	4814	c.4727T>C	c.(4726-4728)aTg>aCg	p.M1576T	MYH11_ENST00000300036.5_Missense_Mutation_p.M1569T|MYH11_ENST00000576790.2_Missense_Mutation_p.M1569T|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.M1576T	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1569					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAGCGCCTGCATGTTGACTTC	0.617000			T	CBFB	AML								19	66					0	0	0.000958276	0	0
NLRP8	126205	broad.mit.edu	37	19	56466276	56466276	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:56466276C>T	ENST00000291971.3	+	3	923	c.852C>T	c.(850-852)ctC>ctT	p.L284L	NLRP8_ENST00000590542.1_Silent_p.L284L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	284	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCTGCTGCTCTTGGATGGCT	0.522000													50	79					0	0	0.000781405	0	0
ABHD16A	7920	broad.mit.edu	37	6	31670994	31670994	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:31670994G>C	ENST00000395952.3	-	1	227	c.65C>G	c.(64-66)tCt>tGt	p.S22C	ABHD16A_ENST00000538874.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	22						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GGCCCTTTCAGAGTCCCTCTC	0.667000													6	36					0	0	0.00116845	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340293	100340293	+	RNA	SNP	C	C	G	rs142617387	by1000genomes	TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr15:100340293C>G	ENST00000341853.1	-	0	633					NR_003260.1																						GCCGACTCCTCCACGAGTGTC	0.632000													3	30					0	0	6.4e-05	0	0
EGF	1950	broad.mit.edu	37	4	110866376	110866376	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:110866376G>A	ENST00000265171.5	+	5	1330	c.885G>A	c.(883-885)ctG>ctA	p.L295L	EGF_ENST00000509793.1_Silent_p.L295L|EGF_ENST00000503392.1_Silent_p.L295L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	295					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTGGTGAACTGAAAGTAGTGC	0.458000													10	22					0	0	0.000978159	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057029	72057029	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr12:72057029G>C	ENST00000378743.3	-	1	720	c.362C>G	c.(361-363)tCg>tGg	p.S121W	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S121W|ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S121W	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	121	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAGTGAGCTCGAAGGCATCCG	0.662000													32	84					0	0	0.000692331	0	0
PFKFB3	5209	broad.mit.edu	37	10	6262806	6262806	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr10:6262806G>A	ENST00000379775.4	+	8	1139	c.809G>A	c.(808-810)gGc>gAc	p.G270D	PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.G284D|PFKFB3_ENST00000379782.3_Missense_Mutation_p.G270D|PFKFB3_ENST00000360521.2_Missense_Mutation_p.G270D|PFKFB3_ENST00000379789.4_Missense_Mutation_p.G250D|PFKFB3_ENST00000379785.1_Missense_Mutation_p.G270D|PFKFB3_ENST00000317350.4_Missense_Mutation_p.G270D	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	270	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|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GGCGACTCAGGCCTGTCCAGC	0.652000													9	51					0	0	0.000673444	0	0
WDR72	256764	broad.mit.edu	37	15	53907989	53907989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr15:53907989C>T	ENST00000396328.1	-	15	2653	c.2414G>A	c.(2413-2415)tGg>tAg	p.W805*	WDR72_ENST00000360509.5_Nonsense_Mutation_p.W805*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.W815*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.W802*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	805										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATCCACTCCCCATGGCAAAAG	0.358000													28	156					0	0	0.00127121	0	0
FAM135A	57579	broad.mit.edu	37	6	71234582	71234582	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:71234582G>C	ENST00000418814.2	+	15	2409	c.1795G>C	c.(1795-1797)Gat>Cat	p.D599H	FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.D599H|FAM135A_ENST00000457062.2_Intron|FAM135A_ENST00000370479.3_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	599										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGACCAGTTTGATCCTTTGAA	0.383000													3	9					0	0	6.4e-05	0	0
EP300	2033	broad.mit.edu	37	22	41564739	41564739	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr22:41564739G>C	ENST00000263253.7	+	25	5259	c.4040G>C	c.(4039-4041)gGa>gCa	p.G1347A		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1347					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GTGGACAGTGGAGAGATGGCA	0.433000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				14	30					0	0	0.000308642	0	0
CCDC108	255101	broad.mit.edu	37	2	219883775	219883775	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:219883775G>C	ENST00000341552.5	-	21	3683	c.3600C>G	c.(3598-3600)gaC>gaG	p.D1200E	CCDC108_ENST00000441968.1_Missense_Mutation_p.D1200E|CCDC108_ENST00000453220.1_Missense_Mutation_p.D1200E	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1200						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCATACCAGTCCAGGGACA	0.602000													20	136					0	0	0.00229938	0	0
HERC3	8916	broad.mit.edu	37	4	89628029	89628029	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:89628029T>A	ENST00000402738.1	+	26	3310	c.3071T>A	c.(3070-3072)cTc>cAc	p.L1024H	HERC3_ENST00000264345.3_Missense_Mutation_p.L1024H|HERC3_ENST00000543130.1_Missense_Mutation_p.L468H	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	1024	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CTTCTTGACCTCCCCAAGTAC	0.562000											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	62					0	0	0.00024832	0	0
OR14K1	343170	broad.mit.edu	37	1	247902159	247902159	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:247902159C>G	ENST00000283225.2	+	1	243	c.243C>G	c.(241-243)ctC>ctG	p.L81L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						AATCCATCCTCAACTCTGTCG	0.507000													9	50					0	0	0.000442599	0	0
SLC5A10	125206	broad.mit.edu	37	17	18918419	18918419	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:18918419C>G	ENST00000317977.6	+	10	1518	c.947C>G	c.(946-948)tCc>tGc	p.S316C	SLC5A10_ENST00000395645.3_Missense_Mutation_p.S383C|SLC5A10_ENST00000395642.1_Missense_Mutation_p.S316C|SLC5A10_ENST00000417251.2_Missense_Mutation_p.S347C|SLC5A10_ENST00000395643.2_Missense_Mutation_p.S356C|SLC5A10_ENST00000395647.2_Missense_Mutation_p.S399C	NM_001282417.1	NP_001269346.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	383					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TCGCTGACCTCCATCTTCAAC	0.662000													21	23					0	0	0.00152264	0	0
GNAL	2774	broad.mit.edu	37	18	11864582	11864582	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr18:11864582C>A	ENST00000334049.6	+	7	1436	c.828C>A	c.(826-828)ttC>ttA	p.F276L	GNAL_ENST00000602628.1_5'UTR|GNAL_ENST00000535121.1_Missense_Mutation_p.F199L|GNAL_ENST00000423027.3_Missense_Mutation_p.F199L|GNAL_ENST00000269162.5_Missense_Mutation_p.F199L	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	199					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AGACACGATTCCAAGTGGACA	0.483000													5	123					0.00116845	0.0057906	0.00116845	1	0
KAT6A	7994	broad.mit.edu	37	8	41801321	41801321	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr8:41801321G>C	ENST00000396930.3	-	14	2716	c.2173C>G	c.(2173-2175)Caa>Gaa	p.Q725E	KAT6A_ENST00000265713.2_Missense_Mutation_p.Q725E|KAT6A_ENST00000406337.1_Missense_Mutation_p.Q725E|KAT6A_ENST00000485568.1_Missense_Mutation_p.Q725E	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	725	Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GTGATGTCTTGAGGGCAGATT	0.403000													6	62					0	0	0.00116845	0	0
RGS19	10287	broad.mit.edu	37	20	62705589	62705589	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:62705589C>T	ENST00000395042.1	-	5	636	c.370G>A	c.(370-372)Gag>Aag	p.E124K	RGS19_ENST00000332298.5_Missense_Mutation_p.E124K	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	124	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.E124K(1)		lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TTCAGCTCCTCGCAGGCCAAC	0.602000													14	28					0	0	0.000308642	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68930641	68930641	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:68930641C>G	ENST00000356291.2	-	8	836	c.777G>C	c.(775-777)tgG>tgC	p.W259C	UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	259	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AAGTAGCAATCCATTGAGTTG	0.333000													8	20					0	0	0.000157383	0	0
METTL2A	339175	broad.mit.edu	37	17	60503956	60503956	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:60503956G>A	ENST00000311506.5	+	3	535	c.499G>A	c.(499-501)Gac>Aac	p.D167N		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	167							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GAAAATTAGTGACCTGGAAAT	0.408000													5	10					0	0	0.00116845	0	0
UNC5C	8633	broad.mit.edu	37	4	96256585	96256585	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:96256585C>G	ENST00000453304.1	-	2	670	c.322G>C	c.(322-324)Gat>Cat	p.D108H	UNC5C_ENST00000506749.1_Missense_Mutation_p.D108H|UNC5C_ENST00000504962.1_Missense_Mutation_p.D108H	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	108	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACTCTTTCATCTACTATGTGG	0.413000													6	37					0	0	0.00198382	0	0
MKI67	4288	broad.mit.edu	37	10	129913453	129913453	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr10:129913453C>G	ENST00000368654.3	-	7	1594	c.1219G>C	c.(1219-1221)Gat>Cat	p.D407H	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	407					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCAGCTGCATCTTCAACTTTA	0.428000													23	54					0	0	0.00278032	0	0
COL12A1	1303	broad.mit.edu	37	6	75811769	75811769	+	Splice_Site	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:75811769C>A	ENST00000322507.8	-	57	8725		c.e57-1		COL12A1_ENST00000345356.6_Splice_Site|COL12A1_ENST00000483888.2_Splice_Site|COL12A1_ENST00000416123.2_Splice_Site	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTTGGCGACCCTAGAGTGAGC	0.438000													23	102					1.96895e-08	1.03346e-07	0.00278032	1	0
ABCB5	340273	broad.mit.edu	37	7	20784924	20784924	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr7:20784924C>G	ENST00000404938.2	+	26	3944	c.3292C>G	c.(3292-3294)Caa>Gaa	p.Q1098E	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q653E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	653					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AATCGTTCCTCAAGAGCCTGT	0.473000													18	52					0	0	0.000958276	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6094332	6094332	+	Translation_Start_Site	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr7:6094332G>C	ENST00000536084.1	-	0	202				EIF2AK1_ENST00000199389.6_Missense_Mutation_p.S41C			Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1						negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TGGAACATCAGATTCTAAAAA	0.328000													19	67					0	0	0.00074312	0	0
NHLRC2	374354	broad.mit.edu	37	10	115664748	115664748	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr10:115664748C>T	ENST00000369301.3	+	10	2089	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	626					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		CCATCAGGATCAAAGCTAACT	0.413000													14	37					0	0	0.000308642	0	0
CLIC5	53405	broad.mit.edu	37	6	45881991	45881991	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:45881991G>C	ENST00000185206.6	-	5	1191	c.1039C>G	c.(1039-1041)Ctg>Gtg	p.L347V	CLIC5_ENST00000544153.1_Missense_Mutation_p.L188V|CLIC5_ENST00000339561.6_Missense_Mutation_p.L188V|CLIC5_ENST00000486570.1_5'UTR	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	347	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						TTGGGCAACAGATTGCAGTCA	0.577000													4	35					0	0	0.00024832	0	0
XIRP2	129446	broad.mit.edu	37	2	168115832	168115832	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:168115832G>A	ENST00000409728.1	+	11	2964	c.2875G>A	c.(2875-2877)Gag>Aag	p.E959K	XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.E926K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E704K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E926K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E959K|XIRP2_ENST00000295237.9_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CACGGTGGAAGAGCAGATTAA	0.428000													4	29					0	0	0.00024832	0	0
TXNRD1	7296	broad.mit.edu	37	12	104721439	104721439	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr12:104721439C>T	ENST00000526691.1	+	11	1694	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	TXNRD1_ENST00000388854.3_Missense_Mutation_p.S413F|TXNRD1_ENST00000524698.1_Missense_Mutation_p.S361F|TXNRD1_ENST00000526390.1_Missense_Mutation_p.S405F|TXNRD1_ENST00000354940.6_Missense_Mutation_p.S361F|TXNRD1_ENST00000378070.4_Missense_Mutation_p.S460F|TXNRD1_ENST00000526950.1_Missense_Mutation_p.S430F|TXNRD1_ENST00000427956.1_Missense_Mutation_p.S476F|TXNRD1_ENST00000429002.2_Missense_Mutation_p.S511F|TXNRD1_ENST00000525566.1_Missense_Mutation_p.S511F|TXNRD1_ENST00000529546.1_Missense_Mutation_p.S323F|TXNRD1_ENST00000397736.2_Missense_Mutation_p.S405F|TXNRD1_ENST00000503506.2_Missense_Mutation_p.S361F|TXNRD1_ENST00000542918.1_Missense_Mutation_p.S411F|TXNRD1_ENST00000540716.1_Missense_Mutation_p.S323F	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	511					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TATGCAGGTTCCACTGTCAAG	0.483000													4	6					0	0	0.000602214	0	0
SHPRH	257218	broad.mit.edu	37	6	146207828	146207828	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:146207828C>T	ENST00000367503.3	-	30	5461	c.5063G>A	c.(5062-5064)tGa>tAa	p.*1688*	SHPRH_ENST00000275233.7_Silent_p.*1684*|SHPRH_ENST00000367505.2_Silent_p.*1684*|SHPRH_ENST00000438092.2_Intron	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	0					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AAGTGTAGTTCATTCAAGCTC	0.393000													6	27					0	0	0.000157383	0	0
CRLF2	64109	broad.mit.edu	37	X	1325410	1325410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chrX:1325410C>A	ENST00000381567.3	-	3	264	c.265G>T	c.(265-267)Gag>Tag	p.E89*	CRLF2_ENST00000381566.1_Nonsense_Mutation_p.E89*|CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	89						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCTCGCTGCTCTGCGTCTAGG	0.502000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								12	54					4.3838e-07	2.28408e-06	0.00185496	1	0
ABHD16A	7920	broad.mit.edu	37	6	31660915	31660915	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:31660915C>T	ENST00000395952.3	-	7	677	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000538874.1_Missense_Mutation_p.E74K|ABHD16A_ENST00000440843.2_Missense_Mutation_p.R139Q|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	172						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AGGGCCCCCTCGAGACTCCTT	0.622000													13	26					0	0	0.00136819	0	0
SEMG1	6406	broad.mit.edu	37	20	43836925	43836925	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:43836925G>A	ENST00000372781.3	+	2	1044	c.987G>A	c.(985-987)caG>caA	p.Q329Q	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTCAAAAACAGATAACAATTC	0.403000													14	25					0	0	0.00244969	0	0
HMCN1	83872	broad.mit.edu	37	1	186113377	186113377	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:186113377G>C	ENST00000271588.4	+	90	14226	c.13997G>C	c.(13996-13998)aGa>aCa	p.R4666T	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4666T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4666	TSP type-1 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTCAGACAAGAGCAAGACTT	0.478000													17	155					0	0	0.000566183	0	0
MSH2	4436	broad.mit.edu	37	2	47707884	47707884	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:47707884C>A	ENST00000406134.1	+	15	2570	c.2508C>A	c.(2506-2508)ttC>ttA	p.F836L	MSH2_ENST00000543555.1_Missense_Mutation_p.F770L|MSH2_ENST00000233146.2_Missense_Mutation_p.F836L			P43246	MSH2_HUMAN	mutS homolog 2	836					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGCTAATTTCCCTAAGCATG	0.428000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	49					0.000602214	0.00301249	0.000602214	1	0
FOXRED1	55572	broad.mit.edu	37	11	126141492	126141492	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:126141492G>A	ENST00000263578.5	+	2	320	c.246G>A	c.(244-246)ctG>ctA	p.L82L	FOXRED1_ENST00000534011.1_Intron|FOXRED1_ENST00000442061.2_Intron|FOXRED1_ENST00000532125.1_Silent_p.L68L	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	82						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CCTATTGGCTGAAGAAGCTGG	0.592000													20	46					0	0	0.00229938	0	0
TTN	7273	broad.mit.edu	37	2	179428238	179428238	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:179428238C>T	ENST00000589042.1	-	326	82845	c.82621G>A	c.(82621-82623)Gaa>Aaa	p.E27541K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18668K|TTN_ENST00000591111.1_Missense_Mutation_p.E25900K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24973K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18601K|TTN_ENST00000460472.2_Missense_Mutation_p.E18476K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25900	Fibronectin type-III 100.						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)			ACTCTGAATTCATAGGAATGG	0.493000													6	59					0	0	0.00116845	0	0
NTM	50863	broad.mit.edu	37	11	132016233	132016233	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:132016233C>G	ENST00000374786.1	+	2	704	c.225C>G	c.(223-225)ctC>ctG	p.L75L	NTM_ENST00000425719.2_Silent_p.L75L|NTM_ENST00000374791.3_Silent_p.L75L|NTM_ENST00000539799.1_Silent_p.L75L|NTM_ENST00000374784.1_Silent_p.L75L|NTM_ENST00000427481.2_Silent_p.L66L	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	75	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GCACCATCCTCTATGCTGGGA	0.562000													11	55					0	0	0.00185496	0	0
BAI1	575	broad.mit.edu	37	8	143558508	143558508	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr8:143558508G>C	ENST00000517894.1	+	5	1985	c.1091G>C	c.(1090-1092)aGc>aCc	p.S364T	BAI1_ENST00000323289.5_Missense_Mutation_p.S364T			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	364	TSP type-1 2.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCCCGTGGAGCGTGTGCTCC	0.711000													4	23					0	0	0.00024832	0	0
SF1	7536	broad.mit.edu	37	11	64536968	64536968	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:64536968C>T	ENST00000377390.3	-	6	930	c.593G>A	c.(592-594)gGa>gAa	p.G198E	SF1_ENST00000433274.2_Missense_Mutation_p.G172E|SF1_ENST00000422298.2_Missense_Mutation_p.G83E|SF1_ENST00000334944.5_Missense_Mutation_p.G198E|SF1_ENST00000377394.3_Missense_Mutation_p.G198E|SF1_ENST00000377387.1_Missense_Mutation_p.G323E|SF1_ENST00000227503.9_Missense_Mutation_p.G198E|SF1_ENST00000489544.1_5'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	198	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CTCATCTTCTCCTGGCAACAT	0.512000													40	144					0	0	0.000781405	0	0
KRT33B	3884	broad.mit.edu	37	17	39521224	39521224	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:39521224C>T	ENST00000251646.3	-	6	953	c.904G>A	c.(904-906)Gag>Aag	p.E302K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	302	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCCTCGCTCTCTGTCAGCGTG	0.577000													7	48					0	0	0.000157383	0	0
SF1	7536	broad.mit.edu	37	11	64536969	64536969	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:64536969C>T	ENST00000377390.3	-	6	929	c.592G>A	c.(592-594)Gga>Aga	p.G198R	SF1_ENST00000433274.2_Missense_Mutation_p.G172R|SF1_ENST00000422298.2_Missense_Mutation_p.G83R|SF1_ENST00000334944.5_Missense_Mutation_p.G198R|SF1_ENST00000377394.3_Missense_Mutation_p.G198R|SF1_ENST00000377387.1_Missense_Mutation_p.G323R|SF1_ENST00000227503.9_Missense_Mutation_p.G198R|SF1_ENST00000489544.1_5'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	198	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TCATCTTCTCCTGGCAACATC	0.512000													40	142					0	0	0.000781405	0	0
ATP12A	479	broad.mit.edu	37	13	25281209	25281209	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr13:25281209C>G	ENST00000218548.6	+	16	2569	c.2236C>G	c.(2236-2238)Cta>Gta	p.L746V	ATP12A_ENST00000381946.3_Missense_Mutation_p.L740V	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	740					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTCTCCGGCTCTAAAGAAGGC	0.552000													8	20					0	0	0.000442599	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22872423	22872423	+	Silent	SNP	A	A	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr15:22872423A>G	ENST00000283645.4	+	22	3082	c.2952A>G	c.(2950-2952)gaA>gaG	p.E984E	TUBGCP5_ENST00000453949.2_Silent_p.E984E	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	984					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGAAAATGGAATCTGATTTTA	0.323000													15	61					0	0	0.000566183	0	0
RASA3	22821	broad.mit.edu	37	13	114776713	114776713	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr13:114776713C>T	ENST00000334062.7	-	16	1645	c.1524G>A	c.(1522-1524)acG>acA	p.T508T	RASA3_ENST00000389544.4_Silent_p.T476T	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	508	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GCGTCCTGGACGTCTGGGGGT	0.537000													4	9					0	0	0.00024832	0	0
PIH1D1	55011	broad.mit.edu	37	19	49952777	49952777	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:49952777G>A	ENST00000262265.5	-	3	527	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	PIH1D1_ENST00000596049.1_Missense_Mutation_p.R98C	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	98					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		ATGGGGATGCGAAACCCAGCT	0.597000													8	81					0	0	0.000442599	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				12	21					0	0	0.000308642	0	0
REL	5966	broad.mit.edu	37	2	61118921	61118921	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:61118921G>A	ENST00000295025.8	+	2	434	c.114G>A	c.(112-114)gaG>gaA	p.E38E	REL_ENST00000394479.3_Silent_p.E38E	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog		RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TTCCAGGGGAGCACAGCACAG	0.443000			A		Hodgkin Lymphoma								24	49					0	0	0.00278032	0	0
CIR1	9541	broad.mit.edu	37	2	175260318	175260318	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:175260318C>G	ENST00000342016.3	-	1	125	c.33G>C	c.(31-33)aaG>aaC	p.K11N	CIR1_ENST00000362053.5_Missense_Mutation_p.K11N	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	11	Interaction with RBPJ.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						GAAAGTCTTTCTTGCACATGA	0.502000													34	84					0	0	0.000814825	0	0
HFM1	164045	broad.mit.edu	37	1	91778938	91778938	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:91778938G>C	ENST00000370425.3	-	30	3457	c.3359C>G	c.(3358-3360)tCa>tGa	p.S1120*	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Nonsense_Mutation_p.S352*|HFM1_ENST00000370424.3_Nonsense_Mutation_p.S799*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1120							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.S1120L(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGATATGTCTGAATGTTTAGA	0.328000													14	39					0	0	0.000308642	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570051	22570051	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:22570051G>A	ENST00000510882.2	+	1	257	c.247G>A	c.(247-249)Gag>Aag	p.E83K	HDGFL1_ENST00000230012.3_Missense_Mutation_p.E83K			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	83										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GTGGGAAATCGAGAACAACCC	0.647000													14	18					0	0	0.000308642	0	0
NOSIP	51070	broad.mit.edu	37	19	50059898	50059898	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:50059898G>A	ENST00000391853.3	-	8	784	c.633C>T	c.(631-633)cgC>cgT	p.R211R	NOSIP_ENST00000339093.3_Silent_p.R214R|NOSIP_ENST00000596358.1_Silent_p.R211R	NM_015953.4	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	211					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TGAGCCCCACGCGGTCCACGG	0.687000													14	15					0	0	0.00244969	0	0
TTN	7273	broad.mit.edu	37	2	179629318	179629318	+	Silent	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:179629318G>C	ENST00000589042.1	-	42	10148	c.9924C>G	c.(9922-9924)gtC>gtG	p.V3308V	TTN_ENST00000360870.5_Silent_p.V3308V|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Silent_p.V3262V|TTN_ENST00000591111.1_Silent_p.V3308V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V3308V|TTN_ENST00000359218.5_Silent_p.V3262V|TTN_ENST00000460472.2_Silent_p.V3262V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3037	Ig-like 19.						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)			CACAGGTATAGACTGCCGCAT	0.458000													30	76					0	0	0.00106085	0	0
TBC1D5	9779	broad.mit.edu	37	3	17418076	17418076	+	Silent	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:17418076G>C	ENST00000253692.7	-	10	2306	c.642C>G	c.(640-642)gtC>gtG	p.V214V	TBC1D5_ENST00000429383.4_Silent_p.V214V|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Silent_p.V166V|TBC1D5_ENST00000446818.2_Silent_p.V214V	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	214	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GAAGGACAAAGACTATAGGTG	0.408000													11	84					0	0	0.000978159	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189800	58189800	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:58189800C>A	ENST00000318203.5	+	5	1526	c.829C>A	c.(829-831)Caa>Aaa	p.Q277K		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	277					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGTATCTCTCAACCAGAGCA	0.493000													6	131					2.0095e-06	1.03186e-05	0.00198382	1	0
MROH2B	133558	broad.mit.edu	37	5	40999851	40999851	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:40999851G>A	ENST00000399564.4	-	40	4963	c.4513C>T	c.(4513-4515)Ctc>Ttc	p.L1505F	MROH2B_ENST00000506092.2_Missense_Mutation_p.L1060F	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGTGTGTGGAGGATCCACAGA	0.478000													11	41					0	0	0.00136819	0	0
PHIP	55023	broad.mit.edu	37	6	79711644	79711644	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:79711644G>A	ENST00000275034.4	-	17	2018	c.1851C>T	c.(1849-1851)ctC>ctT	p.L617L		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	617					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	p.L617L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCTGAGGGATGAGTTGCTCCT	0.413000													6	26					0	0	0.00198382	0	0
EP300	2033	broad.mit.edu	37	22	41565612	41565612	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr22:41565612G>A	ENST00000263253.7	+	26	5497	c.4278G>A	c.(4276-4278)aaG>aaA	p.K1426K	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1426					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AATATGTCAAGAAATTAGGGT	0.328000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				11	19					0	0	0.000673444	0	0
UBR5	51366	broad.mit.edu	37	8	103287765	103287765	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr8:103287765C>G	ENST00000520539.1	-	47	7319	c.6713G>C	c.(6712-6714)aGa>aCa	p.R2238T	UBR5_ENST00000521922.1_Missense_Mutation_p.R2232T|UBR5_ENST00000220959.4_Missense_Mutation_p.R2238T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2238					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGACAAATCTCTTGACTGCTG	0.289000													7	95					0	0	0.000157383	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415289	88415289	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:88415289C>G	ENST00000418378.1	-	5	1234	c.663G>C	c.(661-663)aaG>aaC	p.K221N	SPARCL1_ENST00000282470.6_Missense_Mutation_p.K221N|SPARCL1_ENST00000503414.1_Missense_Mutation_p.K96N	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	221					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GCAATTCTGTCTTTCTTTCTT	0.423000													60	295					0	0	0.000781405	0	0
ACTN2	88	broad.mit.edu	37	1	236850036	236850036	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:236850036C>G	ENST00000366578.4	+	1	229	c.63C>G	c.(61-63)atC>atG	p.I21M	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.I21M	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	21	Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGTACATGATCCAGGAGGAGG	0.692000													9	20					0	0	0.000673444	0	0
CBLN4	140689	broad.mit.edu	37	20	54579055	54579055	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:54579055G>T	ENST00000064571.2	-	1	1473	c.173C>A	c.(172-174)tCc>tAc	p.S58Y		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	58						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CCCCAGCGGGGAGGAAGAGGA	0.657000													7	86					2.7689e-08	1.44976e-07	0.00198382	1	0
ATP5S	27109	broad.mit.edu	37	14	50790814	50790814	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr14:50790814C>G	ENST00000311459.7	+	4	893	c.513C>G	c.(511-513)atC>atG	p.I171M	ATP5S_ENST00000245448.6_Intron|ATP5S_ENST00000358473.1_Missense_Mutation_p.I143M|ATP5S_ENST00000554438.1_3'UTR	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	171					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		ACAAAGGCATCATTGCTTTGC	0.358000													19	33					0	0	0.00188189	0	0
TRABD	80305	broad.mit.edu	37	22	50635970	50635970	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr22:50635970G>C	ENST00000303434.4	+	7	743	c.624G>C	c.(622-624)caG>caC	p.Q208H	TRABD_ENST00000395829.1_Missense_Mutation_p.Q208H|TRABD_ENST00000395827.1_Missense_Mutation_p.Q208H|TRABD_ENST00000380909.4_Missense_Mutation_p.Q208H	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	208										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		CCTTCTGGCAGAAGGTCAGGC	0.657000													8	37					0	0	0.000274275	0	0
IFT140	9742	broad.mit.edu	37	16	1576705	1576705	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:1576705C>T	ENST00000426508.2	-	20	2855	c.2492G>A	c.(2491-2493)cGc>cAc	p.R831H	IFT140_ENST00000361339.5_Missense_Mutation_p.R25H	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	831										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TCGGGCCCCGCGGGCATGGCC	0.726000													6	13					0	0	0.00116845	0	0
CNTN5	53942	broad.mit.edu	37	11	99715894	99715894	+	Silent	SNP	A	A	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:99715894A>C	ENST00000524871.1	+	6	767	c.477A>C	c.(475-477)atA>atC	p.I159I	CNTN5_ENST00000418526.2_Silent_p.I85I|CNTN5_ENST00000279463.3_Silent_p.I159I|CNTN5_ENST00000528682.1_Silent_p.I159I|CNTN5_ENST00000527185.1_Silent_p.I159I	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	159	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTTCATTATAAGCAATCCAA	0.388000													6	147					0	0	0.00116845	0	0
PTCD1	26024	broad.mit.edu	37	7	99022754	99022754	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr7:99022754C>G	ENST00000292478.4	-	6	1651	c.1401G>C	c.(1399-1401)ttG>ttC	p.L467F	PTCD1_ENST00000555673.1_Missense_Mutation_p.L516F|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.L516F	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	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)		STAD - Stomach adenocarcinoma(171;0.215)			GGCCCCCTATCAAGGCCAGCC	0.657000													7	51					0	0	0.00198382	0	0
LRRC15	131578	broad.mit.edu	37	3	194080188	194080188	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:194080188C>T	ENST00000347624.3	-	2	1670	c.1585G>A	c.(1585-1587)Gtt>Att	p.V529I	LRRC15_ENST00000428839.1_Missense_Mutation_p.V535I|LRRC15_ENST00000439944.2_Missense_Mutation_p.V535I	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	529						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ATGCCCCAAACGCTGCGGTCA	0.587000													7	51					0	0	0.00198382	0	0
UTP20	27340	broad.mit.edu	37	12	101732716	101732716	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr12:101732716G>C	ENST00000261637.4	+	31	4168	c.3994G>C	c.(3994-3996)Gag>Cag	p.E1332Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1332					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGTCAGTAAAGAGCTTGGCAT	0.333000													10	35					0	0	0.000673444	0	0
CBX7	23492	broad.mit.edu	37	22	39530415	39530415	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr22:39530415C>T	ENST00000216133.5	-	5	794	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Missense_Mutation_p.E104K	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	197					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CCCTCCTCTTCAGGGGGCTGC	0.657000													4	10					0	0	0.00024832	0	0
EPB41L1	2036	broad.mit.edu	37	20	34770228	34770228	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:34770228C>T	ENST00000338074.2	+	6	686	c.525C>T	c.(523-525)ttC>ttT	p.F175F	EPB41L1_ENST00000373946.3_Silent_p.F144F|EPB41L1_ENST00000441639.1_Silent_p.F113F|EPB41L1_ENST00000202028.5_Silent_p.F113F|EPB41L1_ENST00000373941.1_Silent_p.F175F|EPB41L1_ENST00000373950.2_Silent_p.F78F	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	175	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CAGTCAAGTTCTACCCGCCTG	0.572000													18	50					0	0	0.00152264	0	0
HEYL	26508	broad.mit.edu	37	1	40098333	40098333	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:40098333C>A	ENST00000372852.3	-	2	454	c.135G>T	c.(133-135)aaG>aaT	p.K45N	HEYL_ENST00000535435.1_Missense_Mutation_p.K17N	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	45	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTCTGTGTTTCTTCCTGGCTT	0.577000													28	160					8.4185e-14	4.47377e-13	0.0024448	1	0
NLRP5	126206	broad.mit.edu	37	19	56552342	56552342	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:56552342C>T	ENST00000390649.3	+	11	2841	c.2841C>T	c.(2839-2841)ctC>ctT	p.L947L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	947						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTCAGCCCTCGTCAGCAACC	0.552000													46	32					0	0	0.0025221	0	0
CD5L	922	broad.mit.edu	37	1	157803266	157803266	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:157803266A>T	ENST00000368174.4	-	5	851	c.755T>A	c.(754-756)cTc>cAc	p.L252H		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	252	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCAGAGCAGAGGTTGTCTCC	0.532000													6	111					0	0	0.00198382	0	0
CDK10	8558	broad.mit.edu	37	16	89759688	89759688	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:89759688G>A	ENST00000331006.8	+	6	2092	c.351G>A	c.(349-351)ctG>ctA	p.L117L	CDK10_ENST00000353379.7_Silent_p.L164L|CDK10_ENST00000505473.1_Silent_p.L93L			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	164	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		ACAGGGACCTGAAGGTTTCCA	0.587000													13	32					0	0	0.00136819	0	0
C6orf136	221545	broad.mit.edu	37	6	30617444	30617444	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:30617444C>G	ENST00000293604.6	+	2	918	c.725C>G	c.(724-726)cCc>cGc	p.P242R	C6orf136_ENST00000376473.5_Missense_Mutation_p.P61R|C6orf136_ENST00000376471.4_Intron|C6orf136_ENST00000493705.1_3'UTR	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	61										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCACGCCTTCCCACCCAGCGT	0.617000													14	310					0	0	0.000308642	0	0
AZI1	22994	broad.mit.edu	37	17	79173590	79173590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:79173590G>A	ENST00000269392.4	-	9	1199	c.952C>T	c.(952-954)Cag>Tag	p.Q318*	AZI1_ENST00000450824.2_Nonsense_Mutation_p.Q318*|AZI1_ENST00000575907.1_Nonsense_Mutation_p.Q318*|AZI1_ENST00000374782.3_Nonsense_Mutation_p.Q318*|RP11-455O6.2_ENST00000571085.1_RNA	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	318					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCTTTCTGCTGGTGCAGGTCC	0.642000													17	68					0	0	0.00074312	0	0
SLC7A3	84889	broad.mit.edu	37	X	70149567	70149567	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chrX:70149567G>A	ENST00000374299.3	-	2	425	c.281C>T	c.(280-282)tCt>tTt	p.S94F	SLC7A3_ENST00000298085.4_Missense_Mutation_p.S94F			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	94					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		p.S94C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCCGAACCAGAACGGGGAAC	0.542000													8	6					0	0	0.000157383	0	0
NFKBIB	4793	broad.mit.edu	37	19	39398039	39398039	+	Splice_Site	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:39398039G>A	ENST00000392079.3	+	5	711	c.613G>A	c.(613-615)Gag>Aag	p.E205K	NFKBIB_ENST00000313582.5_Splice_Site_p.E237K|NFKBIB_ENST00000572515.1_Splice_Site_p.E237K			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	237					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCCCCACAGGAGCCCACGTG	0.677000													13	78					0	0	0.00185496	0	0
FAM120A	23196	broad.mit.edu	37	9	96233450	96233450	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr9:96233450C>T	ENST00000277165.6	+	2	696	c.502C>T	c.(502-504)Cag>Tag	p.Q168*	FAM120A_ENST00000340893.4_Nonsense_Mutation_p.Q168*|FAM120A_ENST00000333936.5_Nonsense_Mutation_p.Q168*|FAM120A_ENST00000375389.3_Nonsense_Mutation_p.Q168*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	168						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGATCACCATCAGGAAGTGAT	0.438000													138	41					0	0	0.000781405	0	0
IL17RC	84818	broad.mit.edu	37	3	9959040	9959040	+	Missense_Mutation	SNP	G	G	A	rs112532783	byFrequency	TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:9959040G>A	ENST00000295981.3	+	1	259	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	IL17RC_ENST00000403601.3_Missense_Mutation_p.R14Q|IL17RC_ENST00000416074.2_5'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.R14Q|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.R14Q|IL17RC_ENST00000383812.4_Missense_Mutation_p.R14Q	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	14						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCACTGGGCCGAAGCCCAGTG	0.657000													34	28					0	0	0.00111076	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22867603	22867603	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr15:22867603C>T	ENST00000283645.4	+	19	2809	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	TUBGCP5_ENST00000453949.2_Silent_p.F893F	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	893					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TCATGCATTTCGTGAACAGCT	0.433000													5	48					0	0	0.00116845	0	0
LAMC3	10319	broad.mit.edu	37	9	133936606	133936606	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr9:133936606G>C	ENST00000361069.4	+	13	2476	c.2343G>C	c.(2341-2343)caG>caC	p.Q781H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	781	Laminin EGF-like 7.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCCGGGCCAGAGAGGTAAGT	0.687000													6	8					0	0	0.00116845	0	0
TUFT1	7286	broad.mit.edu	37	1	151552206	151552206	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:151552206G>C	ENST00000368849.3	+	11	1068	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	TUFT1_ENST00000353024.3_Missense_Mutation_p.E277Q|TUFT1_ENST00000538902.1_Missense_Mutation_p.E355Q|TUFT1_ENST00000368848.2_Missense_Mutation_p.E311Q|TUFT1_ENST00000392712.3_Missense_Mutation_p.E281Q	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	336					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTGGAGGCAGAGGTGTGTGT	0.532000													3	25					0	0	0.00024832	0	0
TUBG2	27175	broad.mit.edu	37	17	40817806	40817806	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:40817806C>T	ENST00000251412.7	+	8	1003	c.804C>T	c.(802-804)ttC>ttT	p.F268F		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	268					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GGCTCCACTTCCTCATGACCG	0.642000													26	88					0	0	0.000586117	0	0
SPATA21	374955	broad.mit.edu	37	1	16731547	16731547	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:16731547C>G	ENST00000335496.1	-	8	1208	c.726G>C	c.(724-726)caG>caC	p.Q242H	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.Q219H	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	242							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCTTCAGGCTCTGTGCATCCA	0.557000													20	26					0	0	0.00152264	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967167	64967167	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr10:64967167G>C	ENST00000399262.2	-	10	4480	c.4262C>G	c.(4261-4263)tCa>tGa	p.S1421*	JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.S1202*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.S1239*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.S1202*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1421					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AATGGTATTTGATAAAGAGGA	0.418000													39	72					0	0	0.00148497	0	0
TRIM62	55223	broad.mit.edu	37	1	33625512	33625512	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:33625512C>T	ENST00000291416.5	-	3	771	c.538G>A	c.(538-540)Gag>Aag	p.E180K	TRIM62_ENST00000543586.1_Missense_Mutation_p.E59K|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	180						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TCGAAGGCCTCGCCGATAGTG	0.652000													14	33					0	0	0.000566183	0	0
DENND4B	9909	broad.mit.edu	37	1	153915441	153915441	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:153915441G>A	ENST00000361217.4	-	3	901	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	161	MABP.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGAGGTCAGTGATGCCCAGGG	0.682000													15	17					0	0	0.00244969	0	0
ZNF662	389114	broad.mit.edu	37	3	42956252	42956252	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:42956252C>G	ENST00000541208.1	+	5	1056	c.687C>G	c.(685-687)ttC>ttG	p.F229L	ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.F255L|ZNF662_ENST00000440367.2_Missense_Mutation_p.F229L			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGAAGGCTTTCAGTTTTCGAT	0.413000													4	49					0	0	0.000673444	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176768372	176768372	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:176768372C>G	ENST00000430069.1	-	6	713	c.454G>C	c.(454-456)Gat>Cat	p.D152H	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D152H			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	152					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ACATCCCCATCCACTTCCATC	0.423000													10	23					0	0	0.000442599	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417963	105417963	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr14:105417963C>G	ENST00000333244.5	-	7	3944	c.3825G>C	c.(3823-3825)ctG>ctC	p.L1275L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1275						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TATGACCTTTCAGGTCCAGCT	0.612000													28	50					0	0	0.000720815	0	0
IDH3A	3419	broad.mit.edu	37	15	78447601	78447601	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr15:78447601G>C	ENST00000299518.2	+	2	157	c.74G>C	c.(73-75)aGa>aCa	p.R25T	IDH3A_ENST00000441490.2_5'UTR|IDH3A_ENST00000558554.1_Missense_Mutation_p.R25T|IDH3A_ENST00000559205.1_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	25					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	CAGGTGACCAGAGGTTTTACT	0.343000													9	56					0	0	0.000442599	0	0
FBXO9	26268	broad.mit.edu	37	6	52945872	52945872	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:52945872G>C	ENST00000244426.6	+	5	716	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	FBXO9_ENST00000323557.7_Missense_Mutation_p.E172Q|FBXO9_ENST00000370939.3_Missense_Mutation_p.E138Q	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	182						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					GCCTGAGCTTGAGAGCAGTCA	0.378000													15	57					0	0	0.000566183	0	0
NOTCH3	4854	broad.mit.edu	37	19	15290073	15290073	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:15290073C>T	ENST00000263388.2	-	22	3556	c.3481G>A	c.(3481-3483)Gag>Aag	p.E1161K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1161	EGF-like 30; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGTCATCCTCATTAATCTCG	0.632000													7	27					0	0	0.00198382	0	0
SLC47A1	55244	broad.mit.edu	37	17	19480815	19480815	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:19480815C>G	ENST00000270570.4	+	17	1748	c.1662C>G	c.(1660-1662)ttC>ttG	p.F554L	SLC47A1_ENST00000395585.1_Missense_Mutation_p.F554L|SLC47A1_ENST00000457293.1_Missense_Mutation_p.F554L|SLC47A1_ENST00000571335.1_Missense_Mutation_p.F300L|SLC47A1_ENST00000436810.2_3'UTR|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Missense_Mutation_p.F252L	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	554						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TGGGGGTCTTCTTAATCTTGC	0.502000													74	79					0	0	0.000781405	0	0
PKIB	5570	broad.mit.edu	37	6	123039019	123039019	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:123039019G>A	ENST00000392490.1	+	3	477	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	PKIB_ENST00000368446.1_Missense_Mutation_p.R36Q|PKIB_ENST00000392491.2_Missense_Mutation_p.R27Q|PKIB_ENST00000368448.1_Missense_Mutation_p.R27Q|PKIB_ENST00000368452.2_Missense_Mutation_p.R27Q|PKIB_ENST00000354275.2_Missense_Mutation_p.R27Q|PKIB_ENST00000258014.3_Missense_Mutation_p.R34Q	NM_032471.5	NP_115860.1	Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	27		Important for inhibition (By similarity).					cAMP-dependent protein kinase inhibitor activity			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		GCAGGCCGCCGGAATGCCTTA	0.493000													11	76					0	0	0.000673444	0	0
VARS	7407	broad.mit.edu	37	6	31750904	31750904	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:31750904G>A	ENST00000375663.3	-	14	2171	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	VARS_ENST00000444930.2_Silent_p.F282F	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	577					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CAAATTCATCGAAGACAATGG	0.552000													4	21					0	0	0.000602214	0	0
FAM45A	404636	broad.mit.edu	37	10	120879962	120879962	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr10:120879962C>G	ENST00000361432.2	+	5	617	c.591C>G	c.(589-591)acC>acG	p.T197T	FAM45A_ENST00000544016.1_Silent_p.T46T|FAM45A_ENST00000535029.1_Intron|FAM45A_ENST00000489988.1_3'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	197										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		AGGAGTTCACCAGGTATCACC	0.413000													7	27					0	0	0.000157383	0	0
IFT52	51098	broad.mit.edu	37	20	42225097	42225097	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:42225097G>C	ENST00000373030.3	+	3	272	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	IFT52_ENST00000373039.4_Missense_Mutation_p.E48Q	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	48						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AATCACATCTGAGAAGTTAAA	0.313000													5	46					0	0	0.00116845	0	0
ZNF136	7695	broad.mit.edu	37	19	12298176	12298176	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:12298176G>C	ENST00000343979.4	+	4	1123	c.983G>C	c.(982-984)aGa>aCa	p.R328T	ZNF136_ENST00000398616.2_Missense_Mutation_p.R262T	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	328					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CTACATGAAAGAATTCACACT	0.423000													10	48					0	0	0.000978159	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479962	142479962	+	RNA	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr7:142479962G>A	ENST00000603901.1	+	0	94					NR_001296.3																						CACCTGTGAGGAGAATTCTGT	0.542000													27	42					0	0	0.00106085	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27892155	27892155	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:27892155G>A	ENST00000326019.6	+	5	1528	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	416						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					ACTGGTGGCTGAGGCCATTCA	0.438000													48	130					0	0	0.000680045	0	0
EP300	2033	broad.mit.edu	37	22	41565601	41565601	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr22:41565601G>A	ENST00000263253.7	+	26	5486	c.4267G>A	c.(4267-4269)Gaa>Aaa	p.E1423K	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1423					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGATATTTAGAATATGTCAA	0.323000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				12	21					0	0	0.000978159	0	0
KCNIP4	80333	broad.mit.edu	37	4	20760486	20760486	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:20760486C>T	ENST00000382148.3	-	3	577	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	KCNIP4_ENST00000359001.5_Missense_Mutation_p.E44K|KCNIP4_ENST00000509207.1_Missense_Mutation_p.E44K|KCNIP4_ENST00000382150.4_Missense_Mutation_p.E85K|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382152.2_Missense_Mutation_p.E106K|KCNIP4_ENST00000447367.2_Missense_Mutation_p.E72K	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	106	EF-hand 1; degenerate.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TTGAAGGTTTCTTCATTAACA	0.378000													19	47					0	0	0.00152264	0	0
FICD	11153	broad.mit.edu	37	12	108912274	108912274	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr12:108912274C>G	ENST00000552695.1	+	3	634	c.399C>G	c.(397-399)ctC>ctG	p.L133L	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	133					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						TGCACGCCCTCAAGATGGACC	0.572000													23	57					0	0	0.00188189	0	0
SACS	26278	broad.mit.edu	37	13	23914228	23914228	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr13:23914228G>C	ENST00000382298.3	-	10	4375	c.3787C>G	c.(3787-3789)Cta>Gta	p.L1263V	SACS_ENST00000382292.3_Missense_Mutation_p.L1263V|SACS_ENST00000402364.1_Missense_Mutation_p.L513V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1263					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCTTCATTTAGATGATCATGC	0.358000													7	22					0	0	0.000442599	0	0
WDR55	54853	broad.mit.edu	37	5	140048530	140048530	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:140048530C>G	ENST00000358337.5	+	5	852	c.615C>G	c.(613-615)ctC>ctG	p.L205L	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	205					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGAGCTGCTCTCAGAACCTC	0.542000													12	41					0	0	0.00136819	0	0
HMCN1	83872	broad.mit.edu	37	1	186113378	186113378	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:186113378A>T	ENST00000271588.4	+	90	14227	c.13998A>T	c.(13996-13998)agA>agT	p.R4666S	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4666S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4666	TSP type-1 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTCAGACAAGAGCAAGACTTT	0.478000													17	156					0	0	0.00074312	0	0
SF1	7536	broad.mit.edu	37	11	64536963	64536963	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:64536963C>T	ENST00000377390.3	-	6	935	c.598G>A	c.(598-600)Gat>Aat	p.D200N	SF1_ENST00000433274.2_Missense_Mutation_p.D174N|SF1_ENST00000422298.2_Missense_Mutation_p.D85N|SF1_ENST00000334944.5_Missense_Mutation_p.D200N|SF1_ENST00000377394.3_Missense_Mutation_p.D200N|SF1_ENST00000377387.1_Missense_Mutation_p.D325N|SF1_ENST00000227503.9_Missense_Mutation_p.D200N|SF1_ENST00000489544.1_5'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	200	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						AGTGGCTCATCTTCTCCTGGC	0.517000													35	138					0	0	0.000781405	0	0
INSR	3643	broad.mit.edu	37	19	7152811	7152811	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:7152811G>A	ENST00000341500.5	-	10	2196	c.2157C>T	c.(2155-2157)atC>atT	p.I719I	INSR_ENST00000302850.5_Silent_p.I719I	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	719					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTCCTTCAGGATCTGAGAGT	0.532000													23	91					0	0	0.00188189	0	0
HMCN1	83872	broad.mit.edu	37	1	186084434	186084434	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:186084434G>C	ENST00000271588.4	+	75	11678	c.11449G>C	c.(11449-11451)Gta>Cta	p.V3817L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V3817L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3817	Ig-like C2-type 37.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACTGTAATAGTAAATGTTCA	0.398000													20	96					0	0	0.00152264	0	0
USP21	27005	broad.mit.edu	37	1	161132413	161132413	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:161132413G>C	ENST00000368002.3	+	6	1167	c.790G>C	c.(790-792)Gat>Cat	p.D264H	USP21_ENST00000289865.8_Missense_Mutation_p.D264H|USP21_ENST00000368001.1_Missense_Mutation_p.D264H	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	264					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCTTTGCAGATGTGATTGG	0.498000													3	23					0	0	6.4e-05	0	0
NSFL1C	55968	broad.mit.edu	37	20	1433742	1433742	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:1433742T>C	ENST00000216879.4	-	6	1448	c.581A>G	c.(580-582)gAt>gGt	p.D194G	NSFL1C_ENST00000476071.1_Missense_Mutation_p.D196G|NSFL1C_ENST00000350991.4_Missense_Mutation_p.D196G|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Missense_Mutation_p.D83G|NSFL1C_ENST00000353088.2_Missense_Mutation_p.D163G	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	194	SEP.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TTCTCCATTATCCAGGCTGAA	0.473000													20	151					0	0	0.00188189	0	0
LRRC39	127495	broad.mit.edu	37	1	100624880	100624880	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:100624880C>T	ENST00000370138.1	-	5	509	c.311G>A	c.(310-312)aGa>aAa	p.R104K	LRRC39_ENST00000370137.1_Missense_Mutation_p.R104K|LRRC39_ENST00000342895.3_Missense_Mutation_p.R104K	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	104										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GTTCTGGAATCTTCCAATGAA	0.373000													26	50					0	0	0.000586117	0	0
OTOR	56914	broad.mit.edu	37	20	16729046	16729046	+	Translation_Start_Site	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:16729046G>A	ENST00000246081.2	+	0	44					NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin						sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						AAAAAAGGAAGATGGCAAGAA	0.458000													16	96					0	0	0.00152264	0	0
SPTB	6710	broad.mit.edu	37	14	65253218	65253218	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr14:65253218C>G	ENST00000389722.3	-	15	3518	c.3465G>C	c.(3463-3465)agG>agC	p.R1155S	SPTB_ENST00000389720.3_Missense_Mutation_p.R1155S|SPTB_ENST00000556626.1_Missense_Mutation_p.R1155S|SPTB_ENST00000542895.1_Missense_Mutation_p.R1155S|SPTB_ENST00000389721.5_Missense_Mutation_p.R1155S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1155					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCTCCCACATCCTGCCCAGGG	0.607000													14	30					0	0	0.00244969	0	0
ZNF343	79175	broad.mit.edu	37	20	2465219	2465219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:2465219G>A	ENST00000278772.4	-	6	875	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	130	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AGGAAGATCTGAAGTACATGT	0.478000													15	50					0	0	0.00244969	0	0
DEFB119	245932	broad.mit.edu	37	20	29965112	29965112	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:29965112G>A	ENST00000376321.3	-	2	311	c.192C>T	c.(190-192)agC>agT	p.S64S	DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	64					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCCAGAAATGCTTATCCTCA	0.473000													23	73					0	0	0.00229938	0	0
AGO4	192670	broad.mit.edu	37	1	36282512	36282512	+	Missense_Mutation	SNP	C	C	T	rs140000177	by1000genomes	TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:36282512C>T	ENST00000373210.3	+	2	294	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		TCAGCCACCTCGTCGTCCTGG	0.378000													13	56					0	0	0.00136819	0	0
EVC2	132884	broad.mit.edu	37	4	5570310	5570310	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:5570310G>T	ENST00000310917.2	-	20	3909	c.3178C>A	c.(3178-3180)Cgc>Agc	p.R1060S	EVC2_ENST00000344408.5_Missense_Mutation_p.R1140S|EVC2_ENST00000344938.1_Missense_Mutation_p.R1140S	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1140						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGGAGCCGGCGAAGCGTGGCC	0.642000													3	15					0.000602214	0.00301249	0.000602214	1	0
INCENP	3619	broad.mit.edu	37	11	61912738	61912738	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:61912738C>G	ENST00000394818.3	+	13	2015	c.1813C>G	c.(1813-1815)Cag>Gag	p.Q605E	INCENP_ENST00000278849.4_Missense_Mutation_p.Q601E	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	605					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGTTTGCTCAGATCGACGA	0.587000													27	64					0	0	0.001512	0	0
PLXDC2	84898	broad.mit.edu	37	10	20465945	20465945	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr10:20465945A>G	ENST00000377252.4	+	8	1742	c.901A>G	c.(901-903)Att>Gtt	p.I301V	PLXDC2_ENST00000377242.3_Missense_Mutation_p.I252V|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AAGAAGAACAATTTATGAATA	0.328000													8	55					0	0	0.000442599	0	0
ZNF662	389114	broad.mit.edu	37	3	42956289	42956289	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:42956289C>T	ENST00000541208.1	+	5	1093	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.H268Y|ZNF662_ENST00000440367.2_Missense_Mutation_p.H242Y			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TCAGAGAATTCACAGTGGGGT	0.423000													5	40					0	0	0.000673444	0	0
IFT140	9742	broad.mit.edu	37	16	1576758	1576758	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:1576758C>T	ENST00000426508.2	-	20	2802	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K	IFT140_ENST00000361339.5_Silent_p.K7K	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	813										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCCGCTGGGTCTTCACGCACA	0.706000													6	17					0	0	0.000157383	0	0
KIAA0100	9703	broad.mit.edu	37	17	26946934	26946934	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:26946934G>A	ENST00000528896.2	-	30	5538	c.5464C>T	c.(5464-5466)Cgg>Tgg	p.R1822W	KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1679W|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1679W	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1822						extracellular region		p.R1822W(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACATGCTGCCGCACAGCCTCC	0.493000													9	81					0	0	0.000442599	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791159	106791159	+	RNA	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr14:106791159C>A	ENST00000390613.2	-	0	276																											AACTGCCACCCACTCCAGCCC	0.527000													16	331					1.15088e-07	6.01108e-07	0.000422831	1	0
AGO3	192669	broad.mit.edu	37	1	36479585	36479585	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:36479585G>T	ENST00000373191.4	+	11	1691	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	AGO3_ENST00000246314.6_Nonsense_Mutation_p.E214*	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		CACAGGAGTTGAAATCAAAAT	0.433000													5	74					0.00116845	0.0057906	0.00116845	1	0
TRABD	80305	broad.mit.edu	37	22	50636283	50636283	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr22:50636283G>T	ENST00000303434.4	+	8	822	c.703G>T	c.(703-705)Gac>Tac	p.D235Y	TRABD_ENST00000395829.1_Missense_Mutation_p.D235Y|TRABD_ENST00000395827.1_Missense_Mutation_p.D235Y|TRABD_ENST00000380909.4_Missense_Mutation_p.D235Y	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	235										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		CAAGCAGAAGGACCTACTGGA	0.632000													6	36					0.00198382	0.00980862	0.00198382	1	0
PTPRM	5797	broad.mit.edu	37	18	7949273	7949273	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr18:7949273G>C	ENST00000332175.8	+	6	1795	c.758G>C	c.(757-759)cGa>cCa	p.R253P	PTPRM_ENST00000400053.4_Missense_Mutation_p.R191P|PTPRM_ENST00000444013.1_Missense_Mutation_p.R40P|PTPRM_ENST00000400060.4_Missense_Mutation_p.R253P|PTPRM_ENST00000580170.1_Missense_Mutation_p.R253P	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	253	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACCACCAAACGAGATGCTGGA	0.423000													15	22					0	0	0.00244969	0	0
PRSS1	5644	broad.mit.edu	37	7	142458459	142458459	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr7:142458459G>A	ENST00000486171.1	+	2	111	c.94G>A	c.(94-96)Gag>Aag	p.E32K	PRSS1_ENST00000311737.7_Missense_Mutation_p.E32K			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	32	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CAACTGTGAGGAGAATTCTGT	0.527000													24	146					0	0	0.001512	0	0
ZNF773	374928	broad.mit.edu	37	19	58018244	58018244	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:58018244G>C	ENST00000282292.4	+	4	921	c.781G>C	c.(781-783)Gac>Cac	p.D261H	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.D260H|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CCGTAATGCTGACCTCATTCA	0.413000													12	235					0	0	0.000566183	0	0
MIEN1	84299	broad.mit.edu	37	17	37885849	37885849	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:37885849C>T	ENST00000394231.3	-	4	565	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000474210.1_5'UTR|MIEN1_ENST00000577810.1_3'UTR			Q9BRT3	CQ037_HUMAN	migration and invasion enhancer 1	92					cell redox homeostasis	cytosol|membrane	selenium binding										CTTCGGATGGCCTCAATGAGC	0.517000													6	130					0	0	0.00116845	0	0
MAPK15	225689	broad.mit.edu	37	8	144802889	144802889	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr8:144802889G>C	ENST00000338033.4	+	9	915	c.796G>C	c.(796-798)Gat>Cat	p.D266H		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	266	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACAGACGCTGGATGCCCTCCT	0.667000													5	26					0	0	0.000602214	0	0
OR9I1	219954	broad.mit.edu	37	11	57886840	57886840	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:57886840G>A	ENST00000302610.1	-	1	76	c.77C>T	c.(76-78)cCc>cTc	p.P26L	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				CAGAAAGAGGGGAATCTCCAA	0.443000													14	35					0	0	0.000308642	0	0
NCOA4	8031	broad.mit.edu	37	10	51585254	51585254	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr10:51585254G>A	ENST00000452682.1	+	9	1653	c.1401G>A	c.(1399-1401)gaG>gaA	p.E467E	NCOA4_ENST00000414907.2_Silent_p.E285E|NCOA4_ENST00000438493.1_Silent_p.E467E|NCOA4_ENST00000374082.1_Silent_p.E451E|NCOA4_ENST00000443446.1_Silent_p.E451E|NCOA4_ENST00000430396.2_Silent_p.E351E|NCOA4_ENST00000374087.4_Silent_p.E451E|NCOA4_ENST00000344348.6_Silent_p.E451E	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	451					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTGAGCCTGAGAAGCATAAAG	0.413000			T	RET	papillary thyroid								37	83					0	0	0.000953801	0	0
KIF15	56992	broad.mit.edu	37	3	44846611	44846611	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:44846611G>C	ENST00000326047.4	+	15	1929	c.1780G>C	c.(1780-1782)Gag>Cag	p.E594Q	KIF15_ENST00000425755.1_Missense_Mutation_p.E229Q	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	594					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AATTCAGACAGAGCTGAATAA	0.343000													8	47					0	0	0.000157383	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256720	32256720	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:32256720C>G	ENST00000360482.2	-	16	3264	c.3135G>C	c.(3133-3135)aaG>aaC	p.K1045N	SPOCD1_ENST00000533231.1_Missense_Mutation_p.K1032N|SPOCD1_ENST00000257100.3_Missense_Mutation_p.K525N|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1045					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GATAGTATCTCTTCTCCACCT	0.597000													9	17					0	0	0.000442599	0	0
TRPS1	7227	broad.mit.edu	37	8	116616232	116616232	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr8:116616232G>A	ENST00000395715.3	-	4	2541	c.1964C>T	c.(1963-1965)tCg>tTg	p.S655L	TRPS1_ENST00000220888.5_Missense_Mutation_p.S642L|TRPS1_ENST00000519076.1_Missense_Mutation_p.S396L|TRPS1_ENST00000519674.1_Missense_Mutation_p.S642L|TRPS1_ENST00000520276.1_Missense_Mutation_p.S646L	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	642	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTGACATCCGATGCTTGGGA	0.458000									Langer-Giedion syndrome				20	51					0	0	0.00121646	0	0
SPIRE2	84501	broad.mit.edu	37	16	89936029	89936029	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:89936029G>C	ENST00000378247.3	+	14	1904	c.1861G>C	c.(1861-1863)Gag>Cag	p.E621Q	SPIRE2_ENST00000393062.2_Intron	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	621					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACTGGGCTTTGAGAGTCCTCA	0.517000													10	27					0	0	0.000442599	0	0
SMG8	55181	broad.mit.edu	37	17	57290944	57290944	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:57290944G>T	ENST00000543872.2	+	4	3024	c.2760G>T	c.(2758-2760)caG>caT	p.Q920H	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.Q920H			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	920					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CTCCTTTGCAGATAATACTAA	0.373000													15	145					5.3912e-06	2.7617e-05	0.00074312	1	0
PUM1	9698	broad.mit.edu	37	1	31423013	31423013	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:31423013C>G	ENST00000373747.3	-	17	2919	c.2820G>C	c.(2818-2820)caG>caC	p.Q940H	PUM1_ENST00000440538.2_Missense_Mutation_p.Q913H|PUM1_ENST00000257075.5_Missense_Mutation_p.Q939H|PUM1_ENST00000423018.2_Missense_Mutation_p.Q795H|PUM1_ENST00000424085.2_Missense_Mutation_p.Q697H|PUM1_ENST00000426105.2_Missense_Mutation_p.Q939H|PUM1_ENST00000373741.4_Missense_Mutation_p.Q975H|PUM1_ENST00000373742.2_Missense_Mutation_p.Q880H	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	939	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CAAGAGCTTTCTGGATAACAC	0.448000													15	51					0	0	0.000308642	0	0
BRMS1	25855	broad.mit.edu	37	11	66109600	66109600	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:66109600C>T	ENST00000359957.3	-	2	266	c.106G>A	c.(106-108)Ggc>Agc	p.G36S	BRMS1_ENST00000425825.2_Missense_Mutation_p.G36S	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	36					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						GTCTGGCTGCCGCTCCGCTCC	0.562000													6	32					0	0	0.00116845	0	0
FLT4	2324	broad.mit.edu	37	5	180058714	180058714	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:180058714G>A	ENST00000261937.6	-	2	201	c.123C>T	c.(121-123)atC>atT	p.I41I	FLT4_ENST00000393347.3_Silent_p.I41I|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.I41I	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	41	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CACCGGTGTCGATGACGTGTG	0.642000													17	28					0	0	0.00152264	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078035	90078035	+	RNA	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:90078035G>C	ENST00000390270.2	+	0	169																											AAATTGTGTTGACGCAGTCTC	0.493000													24	73					0	0	0.000720815	0	0
EP300	2033	broad.mit.edu	37	22	41566456	41566456	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr22:41566456G>A	ENST00000263253.7	+	27	5552	c.4333G>A	c.(4333-4335)Gat>Aat	p.D1445N	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1445					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGAGGGAGATGATTATATCTT	0.418000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				20	47					0	0	0.00188189	0	0
LRRC19	64922	broad.mit.edu	37	9	26998047	26998047	+	Missense_Mutation	SNP	C	C	T	rs140083363	byFrequency	TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr9:26998047C>T	ENST00000380055.5	-	3	384	c.274G>A	c.(274-276)Ggt>Agt	p.G92S	IFT74_ENST00000443698.1_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000429045.2_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	92						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		TTACCAAAACCGTTATTATGT	0.318000													43	43					0	0	0.0025221	0	0
TREX1	11277	broad.mit.edu	37	3	48508579	48508579	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:48508579G>C	ENST00000296443.9	+	3	1412	c.525G>C	c.(523-525)aaG>aaC	p.K175N	TREX1_ENST00000433541.1_Missense_Mutation_p.K36N|TREX1_ENST00000422277.2_Missense_Mutation_p.K230N|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000436480.2_Missense_Mutation_p.K175N|TREX1_ENST00000444177.1_Missense_Mutation_p.K165N|TREX1_ENST00000456089.1_Missense_Mutation_p.K36N			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	230					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCCAAGGAAGAGCTACAGCC	0.612000													11	20					0	0	0.000978159	0	0
ZNF662	389114	broad.mit.edu	37	3	42956767	42956767	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:42956767C>A	ENST00000541208.1	+	5	1571	c.1202C>A	c.(1201-1203)tCt>tAt	p.S401Y	ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.S427Y|ZNF662_ENST00000440367.2_Missense_Mutation_p.S401Y			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		AGTCAGAATTCTGTCTTAATT	0.418000													9	35					1.12685e-05	5.75856e-05	0.000274275	1	0
NOB1	28987	broad.mit.edu	37	16	69786167	69786167	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:69786167G>A	ENST00000268802.5	-	3	333	c.304C>T	c.(304-306)Cac>Tac	p.H102Y		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	102	PINc.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGTTTTAGGTGAGACACCCCA	0.433000													70	75					0	0	0.000781405	0	0
KIDINS220	57498	broad.mit.edu	37	2	8874829	8874829	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:8874829C>G	ENST00000256707.3	-	28	3953	c.3772G>C	c.(3772-3774)Gag>Cag	p.E1258Q	KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1239Q|KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1239Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.E1159Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1258					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATATTCATCTCTTTCTTCAGC	0.318000													9	21					0	0	0.000442599	0	0
SEC24A	10802	broad.mit.edu	37	5	134050846	134050846	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:134050846G>A	ENST00000398844.2	+	19	3148	c.2860G>A	c.(2860-2862)Gat>Aat	p.D954N		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	954					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAATCTCTCAGATGAGGTAAG	0.363000													8	44					0	0	0.000157383	0	0
SCN4A	6329	broad.mit.edu	37	17	62020268	62020268	+	Silent	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:62020268G>C	ENST00000435607.1	-	23	4282	c.4206C>G	c.(4204-4206)ctC>ctG	p.L1402L	SCN4A_ENST00000578147.1_Silent_p.L1402L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1402					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CGAGCATCTTGAGCACGCACT	0.547000													21	32					0	0	0.00152264	0	0
UTRN	7402	broad.mit.edu	37	6	144782440	144782440	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:144782440G>A	ENST00000367545.3	+	21	2815	c.2815G>A	c.(2815-2817)Gat>Aat	p.D939N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	939					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTCCTTAATGATCTTGCCAA	0.398000													25	110					0	0	0.000720815	0	0
ACAP3	116983	broad.mit.edu	37	1	1230845	1230845	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:1230845C>T	ENST00000354700.5	-	19	1997	c.1795G>A	c.(1795-1797)Gca>Aca	p.A599T	ACAP3_ENST00000353662.3_Missense_Mutation_p.A557T	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	599					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.A557T(1)		endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CCAGCCCCTGCGGCCCCTGCG	0.672000													5	30					0	0	0.00198382	0	0
STK26	51765	broad.mit.edu	37	X	131188743	131188743	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chrX:131188743G>C	ENST00000394334.2	+	3	380	c.127G>C	c.(127-129)Gat>Cat	p.D43H	MST4_ENST00000354719.6_Missense_Mutation_p.D43H|MST4_ENST00000496850.1_Missense_Mutation_p.D43H|MST4_ENST00000481105.1_Missense_Mutation_p.D43H|MST4_ENST00000394335.2_Intron	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		43	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CAAAGGAATTGATAACCGTAC	0.408000													15	20					0	0	0.00244969	0	0
PRUNE2	158471	broad.mit.edu	37	9	79259787	79259787	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr9:79259787A>G	ENST00000428286.1	-	12	8722	c.7522T>C	c.(7522-7524)Tct>Cct	p.S2508P	PRUNE2_ENST00000223609.6_Missense_Mutation_p.S131P|PRUNE2_ENST00000443509.2_Missense_Mutation_p.S115P|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2866P			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2866					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGGAATAGACTCTGACTCT	0.502000													5	7					0	0	0.000602214	0	0
ZMYM2	7750	broad.mit.edu	37	13	20580700	20580700	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr13:20580700C>G	ENST00000382869.3	+	6	1737	c.1486C>G	c.(1486-1488)Caa>Gaa	p.Q496E	ZMYM2_ENST00000382881.3_Missense_Mutation_p.Q409E|ZMYM2_ENST00000382883.3_Intron|ZMYM2_ENST00000382871.2_Missense_Mutation_p.Q496E|ZMYM2_ENST00000382874.2_Missense_Mutation_p.Q496E	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ATTTTGCTGTCAAAGTTGTGT	0.348000													5	16					0	0	0.000602214	0	0
UTP20	27340	broad.mit.edu	37	12	101731838	101731838	+	Silent	SNP	T	T	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr12:101731838T>C	ENST00000261637.4	+	30	3825	c.3651T>C	c.(3649-3651)ccT>ccC	p.P1217P		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1217					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GATATTTCCCTTTGCTGGCTA	0.373000													3	32					0	0	6.4e-05	0	0
SMCHD1	23347	broad.mit.edu	37	18	2771570	2771570	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr18:2771570G>A	ENST00000320876.6	+	40	5344	c.5006G>A	c.(5005-5007)cGa>cAa	p.R1669Q	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1669Q	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1669					chromosome organization		ATP binding	p.R1669Q(2)|p.R1117Q(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCCCAATTGCGAAATGAACTA	0.303000													16	57					0	0	0.00121646	0	0
WDR55	54853	broad.mit.edu	37	5	140047879	140047879	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:140047879C>T	ENST00000358337.5	+	2	489	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	84					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACCATCTCAAGGCCTGCC	0.557000													18	35					0	0	0.00121646	0	0
AGBL2	79841	broad.mit.edu	37	11	47712057	47712057	+	Missense_Mutation	SNP	G	G	A	rs145940353		TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:47712057G>A	ENST00000525123.1	-	10	1487	c.1202C>T	c.(1201-1203)aCt>aTt	p.T401I	AGBL2_ENST00000528244.1_Missense_Mutation_p.T363I|AGBL2_ENST00000357610.3_Missense_Mutation_p.T401I|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.T401I	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	401					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTGCAAATCAGTGTATGTATA	0.473000													5	73					0	0	0.000602214	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057153	72057153	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr12:72057153G>C	ENST00000378743.3	-	1	596	c.238C>G	c.(238-240)Cag>Gag	p.Q80E	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.Q80E|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.Q80E	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	80	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGCTGCTGCTGAGAAGAGGAC	0.667000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	83					0	0	0.00178596	0	0
DNAH12	201625	broad.mit.edu	37	3	57509535	57509535	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:57509535G>C	ENST00000351747.2	-	3	427	c.247C>G	c.(247-249)Caa>Gaa	p.Q83E	DNAH12_ENST00000311202.6_Missense_Mutation_p.Q83E|DNAH12_ENST00000389536.4_Missense_Mutation_p.Q83E	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	83	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CTTACAGTTTGAGGATAATCA	0.284000													3	15					0	0	0.00024832	0	0
AGAP1	116987	broad.mit.edu	37	2	236817393	236817393	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:236817393G>C	ENST00000304032.8	+	11	1747	c.1167G>C	c.(1165-1167)caG>caC	p.Q389H	AGAP1_ENST00000409538.1_Missense_Mutation_p.Q654H|AGAP1_ENST00000428334.2_Missense_Mutation_p.Q228H|AGAP1_ENST00000336665.5_Missense_Mutation_p.Q389H	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTACATGCAGAATGTTCATG	0.448000													4	28					0	0	0.000602214	0	0
PLA2G15	23659	broad.mit.edu	37	16	68293106	68293106	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:68293106C>G	ENST00000219345.5	+	6	868	c.785C>G	c.(784-786)tCa>tGa	p.S262*	PLA2G15_ENST00000413021.2_Nonsense_Mutation_p.S168*|PLA2G15_ENST00000444212.2_Nonsense_Mutation_p.S62*|PLA2G15_ENST00000566188.1_Silent_p.V220V|RP11-96D1.7_ENST00000563175.1_RNA	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	262					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CAGCAGCGGTCAGCTGTCTCC	0.577000													23	32					0	0	0.00229938	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100191824	100191824	+	Silent	SNP	A	A	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:100191824A>C	ENST00000231461.5	-	4	1090	c.780T>G	c.(778-780)ctT>ctG	p.L260L		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	260					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CAGCATGAATAAGTCTCAATG	0.413000													3	44					0	0	0.00024832	0	0
ZNF883	169834	broad.mit.edu	37	9	115759886	115759886	+	RNA	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr9:115759886G>A	ENST00000427548.1	-	0	1927							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GGGTATGGCTGAAAGCTTTCC	0.423000													15	15					0	0	0.000308642	0	0
MAPK15	225689	broad.mit.edu	37	8	144803008	144803008	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr8:144803008G>C	ENST00000338033.4	+	9	1034	c.915G>C	c.(913-915)caG>caC	p.Q305H		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	305					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCTACGTGCAGAGGTGGGGGT	0.677000													16	42					0	0	0.000422831	0	0
CASKIN1	57524	broad.mit.edu	37	16	2239141	2239141	+	Silent	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:2239141G>C	ENST00000343516.6	-	6	596	c.504C>G	c.(502-504)ctC>ctG	p.L168L		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	168					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TATTGCTGCTGAGGAGCAGCT	0.672000													11	27					0	0	0.000978159	0	0
ITGAL	3683	broad.mit.edu	37	16	30510478	30510478	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:30510478C>T	ENST00000356798.6	+	16	2096	c.1916C>T	c.(1915-1917)tCa>tTa	p.S639L	RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.S556L	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	639					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGCTCCTATTCAACCAGTAAC	0.522000													11	44					0	0	0.000673444	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75040350	75040350	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:75040350G>C	ENST00000395759.2	+	2	298	c.271G>C	c.(271-273)Gat>Cat	p.D91H	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.D33H|MTHFD2L_ENST00000433372.1_5'UTR|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.D33H	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	33					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TTTAGTGGGAGATAACCCAGC	0.413000													21	36					0	0	0.00229938	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800777	93800777	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:93800777C>G	ENST00000315765.9	+	5	932	c.924C>G	c.(922-924)ttC>ttG	p.F308L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	308	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTATCTATTTCTATGGTAACA	0.468000													25	82					0	0	0.00127121	0	0
HECW2	57520	broad.mit.edu	37	2	197172765	197172765	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:197172765C>G	ENST00000260983.3	-	11	2661	c.2479G>C	c.(2479-2481)Gat>Cat	p.D827H	HECW2_ENST00000409111.1_Missense_Mutation_p.D471H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		Interaction with TP73.|WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTTACGTGATCCACGTAGAAG	0.542000													5	24					0	0	0.000602214	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802793	124802793	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:124802793G>A	ENST00000423114.2	-	14	2172	c.2173C>T	c.(2173-2175)Cgg>Tgg	p.R725W	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Missense_Mutation_p.R497W|SLC12A8_ENST00000314584.7_Missense_Mutation_p.R357W|SLC12A8_ENST00000469902.1_Missense_Mutation_p.R696W|SLC12A8_ENST00000393469.4_Missense_Mutation_p.R696W			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	696					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TAGCGATCCCGAGTGGCGAAG	0.582000													3	10					0	0	6.4e-05	0	0
ALDH3A1	218	broad.mit.edu	37	17	19642940	19642940	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:19642940C>G	ENST00000457500.2	-	7	1326	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.E333Q|ALDH3A1_ENST00000395555.3_Intron|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.E333Q|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.E260Q	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	333					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	AAGATCTCCTCTTGCATCACC	0.642000													5	31					0	0	0.000602214	0	0
SPRED1	161742	broad.mit.edu	37	15	38643647	38643647	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr15:38643647G>C	ENST00000299084.4	+	7	1977	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	373	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCTCTGTGCAGAGAGCATGTT	0.423000									Legius syndrome				15	79					0	0	0.000422831	0	0
PDHA2	5161	broad.mit.edu	37	4	96761853	96761853	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:96761853C>T	ENST00000295266.4	+	1	615	c.552C>T	c.(550-552)aaC>aaT	p.N184N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	184					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.N184N(3)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATAAAGGAAACGATGAGATCT	0.483000													5	55					0	0	0.00116845	0	0
ACSM4	341392	broad.mit.edu	37	12	7477157	7477157	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr12:7477157C>T	ENST00000399422.4	+	11	1547	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	500					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GTTGTTGAATCGGCTGTTGTC	0.433000													8	27					0	0	0.000978159	0	0
KLHL11	55175	broad.mit.edu	37	17	40010621	40010621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:40010621C>A	ENST00000319121.3	-	2	1558	c.1498G>T	c.(1498-1500)Gaa>Taa	p.E500*		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	500						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				AACCGGTCTTCAATGGCTAGT	0.433000													13	48					0.00010058	0.000509111	0.00136819	1	0
CCDC40	55036	broad.mit.edu	37	17	78022522	78022522	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:78022522G>A	ENST00000397545.4	+	5	844	c.817G>A	c.(817-819)Gac>Aac	p.D273N	CCDC40_ENST00000374876.4_Missense_Mutation_p.D273N|CCDC40_ENST00000269318.5_Missense_Mutation_p.D273N|CCDC40_ENST00000374877.3_Missense_Mutation_p.D273N	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	273					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGAAGCAGAAGACGAAGGGTC	0.592000													4	19					0	0	0.000602214	0	0
EXPH5	23086	broad.mit.edu	37	11	108412452	108412452	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:108412452G>A	ENST00000265843.4	-	2	317	c.207C>T	c.(205-207)tgC>tgT	p.C69C	EXPH5_ENST00000428840.1_5'UTR|EXPH5_ENST00000525344.1_Silent_p.C62C	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	69					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGTTTCATTGCAAAACTTTT	0.328000													18	252					0	0	0.00074312	0	0
METAP2	10988	broad.mit.edu	37	12	95907516	95907516	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr12:95907516G>C	ENST00000323666.5	+	11	1502	c.1273G>C	c.(1273-1275)Gaa>Caa	p.E425Q	METAP2_ENST00000550777.1_Missense_Mutation_p.E389Q|METAP2_ENST00000551840.1_Missense_Mutation_p.E424Q|METAP2_ENST00000261220.9_Missense_Mutation_p.E402Q|METAP2_ENST00000546753.1_Missense_Mutation_p.E402Q	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	425					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	TCGCTTGGGAGAAAGTAAATA	0.413000													15	62					0	0	0.000422831	0	0
MAPRE3	22924	broad.mit.edu	37	2	27248556	27248556	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:27248556G>A	ENST00000233121.2	+	5	773	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	MAPRE3_ENST00000402218.1_Missense_Mutation_p.R177Q|MAPRE3_ENST00000405074.3_Missense_Mutation_p.R177Q			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	192					cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCAGCCCGAAATGGCGGC	0.572000													11	34					0	0	0.000673444	0	0
CXCL8	3576	broad.mit.edu	37	4	74606430	74606430	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:74606430C>G	ENST00000307407.3	+	1	208	c.55C>G	c.(55-57)Ctg>Gtg	p.L19V	IL8_ENST00000401931.1_Missense_Mutation_p.L19V	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN	interleukin 8	19					angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication	extracellular space|intracellular	chemokine activity|interleukin-8 receptor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)	Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744)	TTCTGCAGCTCTGTGTGAAGG	0.458000													37	91					0	0	0.00222228	0	0
NBR1	4077	broad.mit.edu	37	17	41341080	41341080	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:41341080G>C	ENST00000422280.1	+	7	883	c.424G>C	c.(424-426)Gac>Cac	p.D142H	NBR1_ENST00000542611.1_Missense_Mutation_p.D121H|NBR1_ENST00000589872.1_Missense_Mutation_p.D142H|NBR1_ENST00000341165.6_Missense_Mutation_p.D142H|NBR1_ENST00000590996.1_Missense_Mutation_p.D142H|NBR1_ENST00000389312.4_Missense_Mutation_p.D142H	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	142					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGTTCCATGTGACACAGACCA	0.458000													22	70					0	0	0.000586117	0	0
DHX9	1660	broad.mit.edu	37	1	182812529	182812529	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:182812529G>A	ENST00000367549.3	+	3	322	c.212G>A	c.(211-213)cGa>cAa	p.R71Q		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	71	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TATTTGGTTCGAATAAATGAA	0.373000													14	81					0	0	0.000308642	0	0
ZPLD1	131368	broad.mit.edu	37	3	102187946	102187946	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:102187946C>G	ENST00000306176.1	+	8	1048	c.948C>G	c.(946-948)ctC>ctG	p.L316L	ZPLD1_ENST00000466937.1_Silent_p.L300L|ZPLD1_ENST00000491959.1_Silent_p.L300L	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	300	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTACCAAGCTCTGCAGAGCAG	0.433000													10	58					0	0	0.000978159	0	0
DNMT3B	1789	broad.mit.edu	37	20	31394052	31394052	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:31394052C>G	ENST00000328111.2	+	22	2660	c.2339C>G	c.(2338-2340)tCg>tGg	p.S780W	DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000201963.3_Missense_Mutation_p.S772W|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000353855.2_Missense_Mutation_p.S760W|DNMT3B_ENST00000348286.2_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	780					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGTCGAACTCGATCAAACAG	0.458000													7	23					0	0	0.00198382	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095353	103095353	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:103095353C>T	ENST00000295269.4	+	2	769	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	104					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCTCCTCATCCTGGTGGGGG	0.592000													13	37					0	0	0.00136819	0	0
METTL2B	55798	broad.mit.edu	37	7	128119508	128119508	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr7:128119508G>A	ENST00000480046.1	+	2	419	c.304G>A	c.(304-306)Gac>Aac	p.D102N	METTL2B_ENST00000262432.8_Missense_Mutation_p.D167N|RP11-212P7.3_ENST00000462662.1_RNA			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	167							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GAAAATTAGTGACCTGGAAAT	0.418000													11	51					0	0	0.000422831	0	0
ZNF662	389114	broad.mit.edu	37	3	42956518	42956518	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:42956518C>A	ENST00000541208.1	+	5	1322	c.953C>A	c.(952-954)gCc>gAc	p.A318D	ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.A344D|ZNF662_ENST00000440367.2_Missense_Mutation_p.A318D			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CGAAACCCAGCCCTTCTTCGA	0.473000													4	30					0.00024832	0.00125099	0.00024832	1	0
NELFB	25920	broad.mit.edu	37	9	140157645	140157645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr9:140157645G>T	ENST00000343053.4	+	5	1091	c.754G>T	c.(754-756)Gaa>Taa	p.E252*		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		GGACGTGGGTGAAATCTGCAC	0.642000													7	48					0.000157383	0.000794748	0.000157383	1	0
APLF	200558	broad.mit.edu	37	2	68753261	68753261	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:68753261C>G	ENST00000303795.4	+	6	862	c.691C>G	c.(691-693)Caa>Gaa	p.Q231E		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	231					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CACAACCCAGCAAGGAAGAAG	0.358000													8	49					0	0	0.000157383	0	0
ACP5	54	broad.mit.edu	37	19	11685900	11685900	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:11685900C>G	ENST00000592828.1	-	7	1305	c.903G>C	c.(901-903)gaG>gaC	p.E301D	ACP5_ENST00000590420.1_Missense_Mutation_p.R59T|ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000412435.2_Missense_Mutation_p.E301D|ACP5_ENST00000218758.5_Missense_Mutation_p.E301D|ACP5_ENST00000433365.2_Missense_Mutation_p.E301D	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	301					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						TGACAGTCATCTCTTTGGAGC	0.587000													5	31					0	0	0.00116845	0	0
SLC10A3	8273	broad.mit.edu	37	X	153717249	153717249	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chrX:153717249G>C	ENST00000263512.4	-	2	529	c.31C>G	c.(31-33)Cag>Gag	p.Q11E	SLC10A3_ENST00000393586.1_Missense_Mutation_p.Q66E|SLC10A3_ENST00000369649.4_Missense_Mutation_p.Q11E|SLC10A3_ENST00000393587.4_Missense_Mutation_p.Q11E	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	11					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCACTGCTGAGAGCTGCCC	0.642000													13	8					0	0	0.00185496	0	0
DNAH7	56171	broad.mit.edu	37	2	196741323	196741323	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:196741323G>A	ENST00000312428.6	-	37	6162	c.6062C>T	c.(6061-6063)tCa>tTa	p.S2021L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2021	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCCAATTTTGACATGACAAT	0.368000													10	49					0	0	0.000978159	0	0
ATG16L1	55054	broad.mit.edu	37	2	234200868	234200868	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:234200868G>A	ENST00000392017.4	+	15	1782	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N	ATG16L1_ENST00000347464.5_Missense_Mutation_p.D346N|ATG16L1_ENST00000392018.1_Missense_Mutation_p.D526N|ATG16L1_ENST00000392020.4_Missense_Mutation_p.D490N|ATG16L1_ENST00000373525.5_Missense_Mutation_p.D330N	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	509					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		CTGCTCCCGTGATGACTTGCT	0.478000													4	23					0	0	0.00024832	0	0
CDC25A	993	broad.mit.edu	37	3	48219361	48219361	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:48219361C>T	ENST00000302506.3	-	7	1075	c.667G>A	c.(667-669)Gat>Aat	p.D223N	CDC25A_ENST00000351231.3_Missense_Mutation_p.D183N	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	223					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTCTCTCCATCGAGAAGGTCC	0.443000													19	134					0	0	0.00074312	0	0
SORBS1	10580	broad.mit.edu	37	10	97096592	97096592	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr10:97096592C>T	ENST00000371247.2	-	30	3514	c.3325G>A	c.(3325-3327)Gat>Aat	p.D1109N	SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.D1063N|SORBS1_ENST00000361941.3_Missense_Mutation_p.D1109N|SORBS1_ENST00000353505.5_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1109					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTAAAGGCATCACTAAGCTGG	0.577000													9	30					0	0	0.000274275	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19725362	19725362	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr21:19725362C>G	ENST00000284885.3	-	10	1062	c.1029G>C	c.(1027-1029)gaG>gaC	p.E343D		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	343	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AATTAATTTTCTCATAATCTG	0.299000													7	30					0	0	0.00198382	0	0
TREX1	11277	broad.mit.edu	37	3	48507909	48507909	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:48507909G>A	ENST00000422277.2	+	1	681	c.20G>A	c.(19-21)aGa>aAa	p.R7K	TREX1_ENST00000433541.1_Intron|TREX1_ENST00000492235.1_Intron|TREX1_ENST00000436480.2_Intron|TREX1_ENST00000444177.1_Intron|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000296443.9_Intron	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	7					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGCTCGCAGACAGGGCAGG	0.592000													6	52					0	0	0.00116845	0	0
DNAH11	8701	broad.mit.edu	37	7	21628944	21628944	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr7:21628944T>C	ENST00000328843.6	+	12	2123	c.2092T>C	c.(2092-2094)Tgt>Cgt	p.C698R	DNAH11_ENST00000409508.3_Missense_Mutation_p.C698R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	698	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGATGAAATCTGTGAATTCAA	0.323000									Kartagener syndrome				6	66					0	0	0.00116845	0	0
F13A1	2162	broad.mit.edu	37	6	6167705	6167705	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:6167705C>T	ENST00000264870.3	-	13	2159	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	632					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ATGATGATCTCAGGGATGGTT	0.502000													12	42					0	0	0.00136819	0	0
TTLL7	79739	broad.mit.edu	37	1	84403536	84403536	+	Splice_Site	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:84403536G>A	ENST00000260505.8	-	8	1264	c.887C>T	c.(886-888)tCa>tTa	p.S296L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	296	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TAATCTTACTGAAATATCACT	0.358000													43	61					0	0	0.000680045	0	0
KIF2C	11004	broad.mit.edu	37	1	45213094	45213094	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:45213094C>G	ENST00000372217.1	+	2	393	c.42C>G	c.(40-42)ctC>ctG	p.L14L	KIF2C_ENST00000372218.4_Silent_p.L68L|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372222.3_5'UTR|KIF2C_ENST00000372224.4_Silent_p.L68L			Q99661	KIF2C_HUMAN	kinesin family member 2C	68	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					ACCCAGAACTCTTACAGCTTC	0.428000													5	41					0	0	0.00116845	0	0
PIH1D1	55011	broad.mit.edu	37	19	49952898	49952898	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:49952898C>G	ENST00000262265.5	-	3	406	c.171G>C	c.(169-171)aaG>aaC	p.K57N	PIH1D1_ENST00000596049.1_Missense_Mutation_p.K57N	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	57					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		AGGAGTTGGTCTTTATGCAGA	0.532000													6	20					0	0	0.00116845	0	0
ADCY9	115	broad.mit.edu	37	16	4029131	4029131	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:4029131C>T	ENST00000294016.3	-	8	3203	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	889					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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATGTTGGTCTCATATTCGGAG	0.522000													20	53					0	0	0.00152264	0	0
PTPLA	9200	broad.mit.edu	37	10	17645947	17645947	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr10:17645947C>T	ENST00000361271.3	-	2	394	c.357G>A	c.(355-357)caG>caA	p.Q119Q		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	119					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						AGGCAAATGTCTGGAAAAATT	0.323000													12	29					0	0	0.000978159	0	0
SHISA5	51246	broad.mit.edu	37	3	48510550	48510550	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:48510550G>A	ENST00000296444.2	-	6	1015	c.679C>T	c.(679-681)Cct>Tct	p.P227S	SHISA5_ENST00000426002.1_Missense_Mutation_p.P124S|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000443308.2_Missense_Mutation_p.P220S|SHISA5_ENST00000444115.1_Missense_Mutation_p.P196S|SHISA5_ENST00000442747.1_Missense_Mutation_p.P196S	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	227	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						GGGTTGTAAGGAGGCTGGCTG	0.637000													6	45					0	0	0.00116845	0	0
RAF1	5894	broad.mit.edu	37	3	12626636	12626636	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:12626636G>A	ENST00000251849.4	-	15	2092	c.1653C>T	c.(1651-1653)atC>atT	p.I551I	RAF1_ENST00000442415.2_Silent_p.I571I|RAF1_ENST00000542177.1_Silent_p.I470I|RAF1_ENST00000534997.1_Silent_p.I336I	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	551	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CTCGGTTGTTGATGTGAGAAT	0.522000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				17	81					0	0	0.00188189	0	0
UGT3A2	167127	broad.mit.edu	37	5	36038078	36038078	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:36038078C>T	ENST00000282507.3	-	6	1217	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	UGT3A2_ENST00000545528.1_Silent_p.Q70Q|UGT3A2_ENST00000513300.1_Silent_p.Q338Q	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	372						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTATGCTATTCTGCCCGCCGT	0.498000													24	56					0	0	0.00278032	0	0
SHANK2	22941	broad.mit.edu	37	11	70332669	70332669	+	Silent	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:70332669G>C	ENST00000338508.4	-	32	3731	c.3732C>G	c.(3730-3732)ctC>ctG	p.L1244L	SHANK2_ENST00000409161.1_Silent_p.L647L|SHANK2_ENST00000423696.2_Silent_p.L864L|SHANK2_ENST00000449833.2_Silent_p.L648L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	864					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain 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)			GAGGTTTGTTGAGGTCGGCCT	0.632000													17	56					0	0	0.000566183	0	0
DUSP28	285193	broad.mit.edu	37	2	241500314	241500314	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:241500314C>T	ENST00000405954.1	+	1	596	c.213C>T	c.(211-213)ttC>ttT	p.F71F	ANKMY1_ENST00000536462.1_Intron|DUSP28_ENST00000343217.2_Silent_p.F71F|ANKMY1_ENST00000403283.1_Silent_p.S18S|ANKMY1_ENST00000405002.1_5'UTR			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	71							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		TGCCCGTGTTCGACGACCCGG	0.756000													4	9					0	0	0.000602214	0	0
CD1D	912	broad.mit.edu	37	1	158151442	158151442	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:158151442A>G	ENST00000368171.3	+	3	758	c.259A>G	c.(259-261)Ata>Gta	p.I87V		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	87					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCTGCAGCATATATTTCGGGT	0.572000													42	52					0	0	0.00148497	0	0
ITGB4	3691	broad.mit.edu	37	17	73744972	73744972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:73744972G>A	ENST00000200181.3	+	27	3349	c.3162G>A	c.(3160-3162)tgG>tgA	p.W1054*	ITGB4_ENST00000449880.2_Nonsense_Mutation_p.W1054*|ITGB4_ENST00000579662.1_Nonsense_Mutation_p.W1054*|ITGB4_ENST00000339591.3_Nonsense_Mutation_p.W1054*|ITGB4_ENST00000450894.3_Nonsense_Mutation_p.W1054*	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1054	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGAGGCCTGGAAAGAGCTGC	0.642000													5	8					0	0	0.00198382	0	0
KIF22	3835	broad.mit.edu	37	16	29810616	29810616	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:29810616G>A	ENST00000561482.1	+	6	1224	c.587G>A	c.(586-588)cGc>cAc	p.R196H	KIF22_ENST00000400751.5_Missense_Mutation_p.R196H|KIF22_ENST00000569382.2_Missense_Mutation_p.R196H|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000160827.4_Missense_Mutation_p.R264H|KIF22_ENST00000563263.1_3'UTR	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	264	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GCCCCATTTCGCCAGCGAGAG	0.592000													5	16					0	0	0.000602214	0	0
PCDH9	5101	broad.mit.edu	37	13	67800180	67800180	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr13:67800180C>T	ENST00000544246.1	-	2	3084	c.2393G>A	c.(2392-2394)aGg>aAg	p.R798K	PCDH9_ENST00000328454.5_Missense_Mutation_p.R798K|PCDH9_ENST00000456367.1_Missense_Mutation_p.R798K|PCDH9_ENST00000377865.2_Missense_Mutation_p.R798K|PCDH9_ENST00000377861.3_Missense_Mutation_p.R798K	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	798					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCCTATGTTCCTGTCCAACGG	0.468000													31	65					0	0	0.0024448	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42819877	42819877	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:42819877G>A	ENST00000314073.5	+	7	2063	c.1887G>A	c.(1885-1887)aaG>aaA	p.K629K	GLTSCR1L_ENST00000394168.1_Silent_p.K629K					GLTSCR1-like																		CTGCTCCCAAGACCACAGACG	0.478000													5	31					0	0	0.00116845	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073364	74073364	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:74073364G>A	ENST00000370367.3	+	3	488	c.435G>A	c.(433-435)acG>acA	p.T145T		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		AGGCCGGGACGCAGCGTTCGG	0.667000													11	42					0	0	0.000673444	0	0
HMOX1	3162	broad.mit.edu	37	22	35789530	35789530	+	Missense_Mutation	SNP	G	G	A	rs143057716	byFrequency	TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr22:35789530G>A	ENST00000216117.8	+	5	1145	c.806G>A	c.(805-807)cGa>cAa	p.R269Q		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	269					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	CCGCTTCTCCGATGGGTCCTT	0.567000													36	146					0	0	0.00058488	0	0
ADAM19	8728	broad.mit.edu	37	5	156946987	156946987	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:156946987C>G	ENST00000257527.4	-	6	538	c.460G>C	c.(460-462)Gac>Cac	p.D154H	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.D156H|ADAM19_ENST00000517905.1_Missense_Mutation_p.D154H	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	154					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCTTGCTGTCAGGGAGGGGC	0.532000													18	57					0	0	0.000958276	0	0
RNF14	9604	broad.mit.edu	37	5	141358302	141358302	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:141358302G>A	ENST00000394520.2	+	5	1050	c.741G>A	c.(739-741)ctG>ctA	p.L247L	RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Silent_p.L247L|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000347642.3_Silent_p.L247L|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_Silent_p.L121L|RNF14_ENST00000356143.1_Silent_p.L247L	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	247					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AAGCCTGTCTGAAGGACTACT	0.483000													17	122					0	0	0.00074312	0	0
ABCA3	21	broad.mit.edu	37	16	2326726	2326726	+	Silent	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:2326726G>C	ENST00000301732.5	-	33	5764	c.5064C>G	c.(5062-5064)gtC>gtG	p.V1688V	ABCA3_ENST00000382381.3_Silent_p.V1630V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1688					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGCTCAGGAAGACCTGTTCCA	0.612000													8	40					0	0	0.000673444	0	0
CXCL1	2919	broad.mit.edu	37	4	74735632	74735632	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:74735632C>G	ENST00000395761.3	+	3	301	c.234C>G	c.(232-234)ctC>ctG	p.L78L	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	78					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAGCCACACTCAAGAATGGGC	0.562000													9	51					0	0	0.000274275	0	0
ZNF662	389114	broad.mit.edu	37	3	42956610	42956610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:42956610C>T	ENST00000541208.1	+	5	1414	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Nonsense_Mutation_p.Q375*|ZNF662_ENST00000440367.2_Nonsense_Mutation_p.Q349*			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		AGATCTTTCTCAGCACCAGAG	0.483000													5	21					0	0	0.000602214	0	0
SPAG9	9043	broad.mit.edu	37	17	49067213	49067213	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:49067213C>T	ENST00000262013.7	-	21	2846	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K	SPAG9_ENST00000357122.4_Missense_Mutation_p.E866K|SPAG9_ENST00000505279.1_Missense_Mutation_p.E870K|SPAG9_ENST00000510283.1_Missense_Mutation_p.E723K	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	880					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCATCAACCTCACTATTTTCT	0.428000													19	68					0	0	0.000958276	0	0
CAMTA1	23261	broad.mit.edu	37	1	7309565	7309565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:7309565C>A	ENST00000303635.7	+	5	524	c.317C>A	c.(316-318)tCa>tAa	p.S106*	CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.S106*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGAATGGCTCAATGATACTC	0.378000			T	WWTR1	epitheliod hemangioendothelioma								10	57					1.58986e-06	8.20339e-06	0.000673444	1	0
CERS4	79603	broad.mit.edu	37	19	8321585	8321585	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:8321585C>G	ENST00000558331.1	+	8	909	c.450C>G	c.(448-450)gtC>gtG	p.V150V	CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Silent_p.V201V|CERS4_ENST00000251363.5_Silent_p.V201V|CERS4_ENST00000559450.1_Silent_p.V201V			Q9HA82	CERS4_HUMAN	ceramide synthase 4	201	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CCTTTGATGTCAAGCGCAAGG	0.572000													6	38					0	0	0.00116845	0	0
ECT2L	345930	broad.mit.edu	37	6	139222121	139222121	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:139222121C>T	ENST00000423192.1	+	20	2612	c.2451C>T	c.(2449-2451)ctC>ctT	p.L817L	ECT2L_ENST00000367682.2_Silent_p.L817L|ECT2L_ENST00000541398.1_Silent_p.L671L			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	817					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GCCTTTTCCTCTTCAATGATG	0.418000			"""N, Splice, Mis"""		ETP ALL								8	33					0	0	0.000157383	0	0
NAV2	89797	broad.mit.edu	37	11	20119140	20119140	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:20119140C>T	ENST00000396085.1	+	32	6400	c.6039C>T	c.(6037-6039)gtC>gtT	p.V2013V	NAV2_ENST00000527559.2_Silent_p.V1998V|NAV2_ENST00000396087.3_Silent_p.V2069V|NAV2_ENST00000311043.8_Silent_p.V1074V|NAV2_ENST00000360655.4_Silent_p.V1946V|NAV2_ENST00000540292.1_Silent_p.V2000V|NAV2_ENST00000349880.4_Silent_p.V2010V|NAV2_ENST00000533917.1_Silent_p.V1074V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2069						nucleus	ATP binding|helicase activity			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						TCATTCATGTCGACCCAGTGA	0.448000													22	18					0	0	0.00188189	0	0
FBN1	2200	broad.mit.edu	37	15	48805819	48805819	+	Silent	SNP	A	A	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr15:48805819A>G	ENST00000316623.5	-	13	1970	c.1515T>C	c.(1513-1515)atT>atC	p.I505I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	505	EGF-like 7; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTGGTTGTTAATACACTCAC	0.463000													7	26					0	0	0.00198382	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47364641	47364641	+	RNA	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:47364641C>G	ENST00000505841.1	-	0	195					NR_002788.2																						ACCTCAAACTCTTTTACTGGG	0.443000													30	48					0	0	0.00209593	0	0
PTPRK	5796	broad.mit.edu	37	6	128505661	128505661	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:128505661C>T	ENST00000368227.3	-	7	1444	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	PTPRK_ENST00000368210.3_Missense_Mutation_p.E360K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E360K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.E360K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E360K|PTPRK_ENST00000368215.3_Missense_Mutation_p.E360K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E360K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	360	Fibronectin type-III 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACTCGGATCTCATATTCGGTA	0.458000													14	67					0	0	0.000308642	0	0
NCK2	8440	broad.mit.edu	37	2	106498229	106498229	+	Silent	SNP	G	G	C	rs145258554	by1000genomes	TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:106498229G>C	ENST00000233154.4	+	4	1114	c.672G>C	c.(670-672)gtG>gtC	p.V224V	NCK2_ENST00000393349.2_Silent_p.V224V|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	224	SH3 3.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						CCATGGAGGTGATTGAGAAGC	0.612000													10	67					0	0	0.000673444	0	0
ADCY10	55811	broad.mit.edu	37	1	167805693	167805693	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:167805693G>C	ENST00000367848.1	-	23	3384	c.2887C>G	c.(2887-2889)Ctg>Gtg	p.L963V	ADCY10_ENST00000545172.1_Missense_Mutation_p.L902V|ADCY10_ENST00000367851.4_Missense_Mutation_p.L1055V			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1055					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CAAGATTCCAGAGGGATAATG	0.388000													17	81					0	0	0.000566183	0	0
EP300	2033	broad.mit.edu	37	22	41564595	41564595	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr22:41564595G>A	ENST00000263253.7	+	24	5236	c.4017G>A	c.(4015-4017)atG>atA	p.M1339I		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1339					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AACCAGGCATGAAAGCAAGGT	0.418000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				19	32					0	0	0.00121646	0	0
PRDM2	7799	broad.mit.edu	37	1	14109250	14109250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:14109250C>T	ENST00000235372.7	+	8	5816	c.4960C>T	c.(4960-4962)Cag>Tag	p.Q1654*	PRDM2_ENST00000343137.4_Nonsense_Mutation_p.Q1453*|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Nonsense_Mutation_p.Q1453*|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.Q1654*|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1654						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCGGAGCCTTCAGCTGGCAGC	0.537000													16	35					0	0	0.000422831	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538006	27538006	+	RNA	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr10:27538006C>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TGAGTAGGTTCTAGTTCAGTA	0.488000													29	85					0	0	0.00178596	0	0
DRD2	1813	broad.mit.edu	37	11	113295282	113295282	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:113295282C>G	ENST00000362072.3	-	2	436	c.92G>C	c.(91-93)aGa>aCa	p.R31T	DRD2_ENST00000346454.3_Missense_Mutation_p.R31T|DRD2_ENST00000542968.1_Missense_Mutation_p.R31T|DRD2_ENST00000355319.2_Missense_Mutation_p.R31T|DRD2_ENST00000544518.1_Missense_Mutation_p.R31T|DRD2_ENST00000538967.1_Missense_Mutation_p.R31T	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	31					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GTAGTGGGGTCTGTCCGCCTT	0.587000													15	60					0	0	0.00244969	0	0
EP300	2033	broad.mit.edu	37	22	41564869	41564869	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr22:41564869G>C	ENST00000263253.7	+	25	5389	c.4170G>C	c.(4168-4170)caG>caC	p.Q1390H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1390					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACCCAACCAGAGGTATGACT	0.458000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				30	67					0	0	0.000814825	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833088	101833088	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:101833088C>G	ENST00000263468.8	+	6	1592	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S242C	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	441							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAGAAATATTCTGAATTAAAT	0.378000													36	65					0	0	0.00148497	0	0
EP300	2033	broad.mit.edu	37	22	41569698	41569698	+	Silent	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr22:41569698G>C	ENST00000263253.7	+	29	5908	c.4689G>C	c.(4687-4689)ctG>ctC	p.L1563L	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1563					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGAGCAGCCTGAGTAGGGGCA	0.428000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				38	95					0	0	0.00128727	0	0
EPOR	2057	broad.mit.edu	37	19	11492479	11492479	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:11492479C>G	ENST00000592375.2	-	4	578	c.474G>C	c.(472-474)gaG>gaC	p.E158D	EPOR_ENST00000222139.6_Missense_Mutation_p.E158D			P19235	EPOR_HUMAN	erythropoietin receptor	158	Fibronectin type-III.					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CGTGGCCGCTCTCGTCAGCCA	0.687000											OREG0025255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	13					0	0	0.00198382	0	0
RPL10A	4736	broad.mit.edu	37	6	35437166	35437166	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:35437166C>T	ENST00000322203.6	+	4	197	c.170C>T	c.(169-171)tCc>tTc	p.S57F	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	57					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						AGGCTTAAGTCCACTCCCCGC	0.632000													14	34					0	0	0.000308642	0	0
CHMP3	51652	broad.mit.edu	37	2	86737602	86737602	+	Splice_Site	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:86737602G>A	ENST00000263856.4	-	4	415	c.287C>T	c.(286-288)gCg>gTg	p.A96V	CHMP3_ENST00000409727.1_Intron|CHMP3_ENST00000494623.1_5'UTR|CHMP3_ENST00000409225.2_Splice_Site_p.A30V|RNF103-CHMP3_ENST00000604011.1_Splice_Site_p.A125V|CHMP3_ENST00000439940.2_Splice_Site_p.A125V	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1			charged multivesicular body protein 3																		TCGCAAGACCGCTGAAAGAGA	0.473000													13	32					0	0	0.00136819	0	0
EP300	2033	broad.mit.edu	37	22	41569659	41569659	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr22:41569659G>T	ENST00000263253.7	+	29	5869	c.4650G>T	c.(4648-4650)aaG>aaT	p.K1550N	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1550					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATGCTAAAAAGAAGAATAATA	0.403000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				26	64					3.01185e-09	1.58475e-08	0.000586117	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618443	77618443	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr8:77618443C>A	ENST00000521891.2	+	2	2568	c.2120C>A	c.(2119-2121)tCt>tAt	p.S707Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S707Y|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S707Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S707Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	707						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTAACTACTCTACCACTACC	0.483000										HNSCC(33;0.089)			4	39					5.9392e-07	3.08694e-06	0.00116845	1	0
SCN1A	6323	broad.mit.edu	37	2	166915199	166915199	+	Splice_Site	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:166915199C>T	ENST00000423058.2	-	2	282		c.e2-1		SCN1A_ENST00000303395.4_Splice_Site|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Splice_Site|SCN1A_ENST00000409050.1_Splice_Site	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit							voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.?(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTATAAAAGTCTGTAAGACAG	0.343000													6	20					0	0	0.00198382	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686634	3686634	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:3686634C>T	ENST00000344754.4	-	3	462	c.463G>A	c.(463-465)Gag>Aag	p.E155K	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E155K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	155	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AAGTCCACCTCTGTGCCCTCG	0.622000													26	50					0	0	0.00178596	0	0
GPR31	2853	broad.mit.edu	37	6	167570931	167570931	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:167570931G>A	ENST00000366834.1	-	1	886	c.389C>T	c.(388-390)gCg>gTg	p.A130V		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	130						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		CCCCAGGGCCGCCTGAGGAGA	0.682000													5	34					0	0	0.000602214	0	0
TRABD	80305	broad.mit.edu	37	22	50636272	50636272	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr22:50636272G>A	ENST00000303434.4	+	8	811	c.692G>A	c.(691-693)tGc>tAc	p.C231Y	TRABD_ENST00000395829.1_Missense_Mutation_p.C231Y|TRABD_ENST00000395827.1_Missense_Mutation_p.C231Y|TRABD_ENST00000380909.4_Missense_Mutation_p.C231Y	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	231										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GTGGAACGCTGCAAGCAGAAG	0.642000													5	34					0	0	0.00116845	0	0
MPND	84954	broad.mit.edu	37	19	4357549	4357549	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:4357549G>C	ENST00000599840.1	+	10	1238	c.1203G>C	c.(1201-1203)aaG>aaC	p.K401N	AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000359935.4_Missense_Mutation_p.K351N|MPND_ENST00000262966.8_Missense_Mutation_p.K401N			Q8N594	MPND_HUMAN	MPN domain containing	401							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAGTCCAAGATCTCACCTT	0.672000													5	15					0	0	0.00116845	0	0
ARHGEF35	445328	broad.mit.edu	37	7	143884153	143884153	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr7:143884153C>G	ENST00000378115.2	-	2	1453	c.1324G>C	c.(1324-1326)Gag>Cag	p.E442Q	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.E442Q	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	442										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						GACAGTTCCTCAGCCCTGGAC	0.567000													4	19					0	0	0.00024832	0	0
PTPN22	26191	broad.mit.edu	37	1	114380970	114380970	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:114380970G>C	ENST00000359785.5	-	13	1187	c.1052C>G	c.(1051-1053)tCt>tGt	p.S351C	PTPN22_ENST00000420377.2_Missense_Mutation_p.S351C|PTPN22_ENST00000538253.1_Missense_Mutation_p.S107C|PTPN22_ENST00000528414.1_Missense_Mutation_p.S296C|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000525799.1_Missense_Mutation_p.S224C	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	351					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGGAAGAAGATTCTTTGAT	0.358000													6	31					0	0	0.00198382	0	0
PTH2R	5746	broad.mit.edu	37	2	209309551	209309551	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:209309551C>G	ENST00000272847.2	+	7	1005	c.792C>G	c.(790-792)ctC>ctG	p.L264L	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	264						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGCATAATCTCATCTTTGTGG	0.408000													19	135					0	0	0.00229938	0	0
RBM39	9584	broad.mit.edu	37	20	34317447	34317447	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:34317447G>C	ENST00000361162.6	-	5	683	c.299C>G	c.(298-300)tCc>tGc	p.S100C	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Intron|RBM39_ENST00000253363.6_Missense_Mutation_p.S100C	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	100					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TTTTGGTCCGGAGCTAAAAAG	0.373000													4	53					0	0	0.00024832	0	0
CNTN5	53942	broad.mit.edu	37	11	99715949	99715949	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:99715949A>T	ENST00000524871.1	+	6	822	c.532A>T	c.(532-534)Act>Tct	p.T178S	CNTN5_ENST00000418526.2_Missense_Mutation_p.T104S|CNTN5_ENST00000279463.3_Missense_Mutation_p.T178S|CNTN5_ENST00000528682.1_Missense_Mutation_p.T178S|CNTN5_ENST00000527185.1_Missense_Mutation_p.T178S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	178	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCAACCAACACTGTGGGGAG	0.353000													6	215					0	0	0.00198382	0	0
CACNA1B	774	broad.mit.edu	37	9	140946603	140946603	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr9:140946603G>A	ENST00000277549.5	+	26	3927	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1257Q|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1257Q|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1258Q|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1257Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1258Q			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1257					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGTGTCCTGCGGCCCCTCAAG	0.547000													3	9					0	0	6.4e-05	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409283	56409283	+	Silent	SNP	A	A	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:56409283A>G	ENST00000544374.1	-	1	664	c.636T>C	c.(634-636)ttT>ttC	p.F212F	OR5AP2_ENST00000302981.1_Silent_p.F211F			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TGATGACAATAAAACTTGAGA	0.448000													7	151					0	0	0.00198382	0	0
NUP54	53371	broad.mit.edu	37	4	77045829	77045829	+	Silent	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:77045829G>C	ENST00000264883.3	-	9	1277	c.1137C>G	c.(1135-1137)ctC>ctG	p.L379L	NUP54_ENST00000514987.1_Silent_p.L331L|NUP54_ENST00000458189.2_Silent_p.L199L|NUP54_ENST00000342467.6_Intron	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	379	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AAAGATCCATGAGTTTCCTCT	0.318000													8	24					0	0	0.000157383	0	0
AGRN	375790	broad.mit.edu	37	1	980774	980774	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:980774G>A	ENST00000379370.2	+	14	2457	c.2407G>A	c.(2407-2409)Ggc>Agc	p.G803S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	803	Laminin EGF-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CTCTTACGGCGGCACCTGTGA	0.682000													8	26					0	0	0.000157383	0	0
IL1F10	84639	broad.mit.edu	37	2	113832372	113832372	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:113832372G>A	ENST00000393197.2	+	3	612	c.191G>A	c.(190-192)gGg>gAg	p.G64E	IL1F10_ENST00000337569.3_Missense_Mutation_p.G64E|IL1F10_ENST00000341010.2_Missense_Mutation_p.G64E	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	64						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						ATCCAGGGAGGGAGCCGCTGC	0.587000													11	63					0	0	0.000673444	0	0
ASB8	140461	broad.mit.edu	37	12	48547313	48547313	+	Splice_Site	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr12:48547313C>G	ENST00000317697.3	-	2	137		c.e2-1		ASB8_ENST00000535055.1_Intron|ASB8_ENST00000539528.1_Intron|ASB8_ENST00000536953.1_Splice_Site|ASB8_ENST00000536549.1_Intron|ASB8_ENST00000537754.1_Intron|ASB8_ENST00000540782.1_Intron|ASB8_ENST00000535988.1_Splice_Site|ASB8_ENST00000536071.1_Splice_Site	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8						intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TCCAAACTGCCTGAAACAAAG	0.433000													9	12					0	0	0.000274275	0	0
TECRL	253017	broad.mit.edu	37	4	65155440	65155440	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:65155440G>A	ENST00000381210.3	-	9	930	c.820C>T	c.(820-822)Ccc>Tcc	p.P274S	TECRL_ENST00000507440.1_Missense_Mutation_p.P274S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	274					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTGTGATTGGGATGAGACAAC	0.274000													3	14					0	0	6.4e-05	0	0
NFIC	4782	broad.mit.edu	37	19	3381829	3381829	+	Silent	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:3381829G>T	ENST00000589123.1	+	2	243	c.123G>T	c.(121-123)tcG>tcT	p.S41S	NFIC_ENST00000443272.2_Silent_p.S50S|NFIC_ENST00000346156.5_Silent_p.S41S|NFIC_ENST00000395111.3_Silent_p.S41S|NFIC_ENST00000590282.1_Silent_p.S50S|NFIC_ENST00000341919.3_Silent_p.S50S|NFIC_ENST00000586919.1_Silent_p.S41S	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	50					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AGCGGATGTCGAAGGACGAGG	0.642000													20	83					1.00905e-13	5.34895e-13	0.00121646	1	0
C2CD3	26005	broad.mit.edu	37	11	73806357	73806357	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:73806357C>T	ENST00000334126.7	-	17	3302	c.3076G>A	c.(3076-3078)Gaa>Aaa	p.E1026K	C2CD3_ENST00000313663.7_Missense_Mutation_p.E1026K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1026						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CAATCTGCTTCTCCCCAGACT	0.453000													27	112					0	0	0.00106085	0	0
OR13G1	441933	broad.mit.edu	37	1	247836175	247836175	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:247836175A>T	ENST00000359688.2	-	1	190	c.169T>A	c.(169-171)Tat>Aat	p.Y57N	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGAAAACATACATGGGCGTA	0.418000													5	21					0	0	0.00116845	0	0
SNORD89	692205	broad.mit.edu	37	2	101889508	101889508	+	RNA	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:101889508C>G	ENST00000390981.1	-	0	3					NR_003070.1																						CATCATTCCTCAGTAGCTGGA	0.478000													11	45					0	0	0.00136819	0	0
TREX1	11277	broad.mit.edu	37	3	48508893	48508893	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:48508893G>T	ENST00000296443.9	+	3	1726	c.839G>T	c.(838-840)gGa>gTa	p.G280V	TREX1_ENST00000433541.1_Missense_Mutation_p.G141V|TREX1_ENST00000422277.2_Missense_Mutation_p.G335V|TREX1_ENST00000436480.2_Missense_Mutation_p.G280V|TREX1_ENST00000444177.1_Missense_Mutation_p.G270V|TREX1_ENST00000456089.1_Missense_Mutation_p.G141V			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	335					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGGACCCTGGAGCCCTATCC	0.612000													10	41					7.48243e-07	3.87016e-06	0.000442599	1	0
CRTAM	56253	broad.mit.edu	37	11	122722445	122722445	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:122722445C>G	ENST00000227348.4	+	3	285	c.238C>G	c.(238-240)Cag>Gag	p.Q80E		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	80	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTCGGCCAATCAGCTCTCCAT	0.433000													16	98					0	0	0.000422831	0	0
EHBP1	23301	broad.mit.edu	37	2	63223835	63223835	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:63223835G>C	ENST00000263991.5	+	21	3732	c.3250G>C	c.(3250-3252)Gag>Cag	p.E1084Q	EHBP1_ENST00000354487.3_Missense_Mutation_p.E1049Q|EHBP1_ENST00000405015.3_Missense_Mutation_p.E1013Q|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000431489.1_Missense_Mutation_p.E1013Q|EHBP1_ENST00000405289.1_Missense_Mutation_p.E1049Q	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1084						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACTAGAGAATGAGCAAAAGCA	0.448000													20	47					0	0	0.000586117	0	0
GLTP	51228	broad.mit.edu	37	12	110290444	110290444	+	Silent	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr12:110290444G>C	ENST00000318348.4	-	5	659	c.546C>G	c.(544-546)ctC>ctG	p.L182L	GLTP_ENST00000544393.1_Silent_p.L163L	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	182						cytoplasm	glycolipid binding|glycolipid transporter activity			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TGACTAGGAAGAGGCGGATCT	0.537000											OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	122	202					0	0	0.000781405	0	0
ZNF43	7594	broad.mit.edu	37	19	21990879	21990879	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:21990879C>T	ENST00000594012.1	-	7	2456	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	ZNF43_ENST00000595461.1_Missense_Mutation_p.E648K|ZNF43_ENST00000354959.4_Missense_Mutation_p.E654K|ZNF43_ENST00000598381.1_Missense_Mutation_p.E648K	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTGCCACATTCTTCACATTTG	0.373000													10	44					0	0	0.000442599	0	0
EHBP1	23301	broad.mit.edu	37	2	63217952	63217952	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:63217952G>C	ENST00000263991.5	+	18	3405	c.2923G>C	c.(2923-2925)Gag>Cag	p.E975Q	EHBP1_ENST00000354487.3_Missense_Mutation_p.E940Q|EHBP1_ENST00000405015.3_Missense_Mutation_p.E904Q|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000431489.1_Missense_Mutation_p.E904Q|EHBP1_ENST00000405289.1_Missense_Mutation_p.E940Q	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	975						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGCTGTAACTGAGAGCTCAGA	0.428000													14	33					0	0	0.000308642	0	0
SLC32A1	140679	broad.mit.edu	37	20	37353715	37353715	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:37353715C>G	ENST00000217420.1	+	1	611	c.348C>G	c.(346-348)atC>atG	p.I116M		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	116					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGCCCAAAATCACGGCGTGGG	0.662000													22	67					0	0	0.00047179	0	0
PTPRJ	5795	broad.mit.edu	37	11	48149393	48149393	+	Silent	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:48149393C>A	ENST00000418331.2	+	7	1507	c.1155C>A	c.(1153-1155)atC>atA	p.I385I	PTPRJ_ENST00000440289.2_Silent_p.I385I	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	385	Fibronectin type-III 4.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGACCCTGATCTGGAAAGTCA	0.483000													19	46					1.37522e-17	7.34487e-17	0.000958276	1	0
STAG2	10735	broad.mit.edu	37	X	123179210	123179210	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chrX:123179210C>T	ENST00000371160.1	+	8	949	c.659C>T	c.(658-660)aCc>aTc	p.T220I	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.T220I|STAG2_ENST00000371144.3_Missense_Mutation_p.T220I|STAG2_ENST00000371157.3_Missense_Mutation_p.T220I|STAG2_ENST00000371145.3_Missense_Mutation_p.T220I|STAG2_ENST00000354548.5_Missense_Mutation_p.T151I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	220					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.L221fs*18(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CATACAAGCACCCTGGCAGGT	0.333000													4	75					0	0	0.00116845	0	0
NCOA4	8031	broad.mit.edu	37	10	51585246	51585246	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr10:51585246G>A	ENST00000452682.1	+	9	1645	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	NCOA4_ENST00000414907.2_Missense_Mutation_p.E283K|NCOA4_ENST00000438493.1_Missense_Mutation_p.E465K|NCOA4_ENST00000374082.1_Missense_Mutation_p.E449K|NCOA4_ENST00000443446.1_Missense_Mutation_p.E449K|NCOA4_ENST00000430396.2_Missense_Mutation_p.E349K|NCOA4_ENST00000374087.4_Missense_Mutation_p.E449K|NCOA4_ENST00000344348.6_Missense_Mutation_p.E449K	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	449					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						ACCCAAACCTGAGCCTGAGAA	0.418000			T	RET	papillary thyroid								37	78					0	0	0.000953801	0	0
FBXL13	222235	broad.mit.edu	37	7	102462558	102462558	+	Silent	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr7:102462558G>T	ENST00000393772.2	-	18	2289	c.1863C>A	c.(1861-1863)atC>atA	p.I621I	FBXL13_ENST00000456695.1_Silent_p.I367I|FBXL13_ENST00000379308.3_Silent_p.I604I|FBXL13_ENST00000455112.2_Silent_p.I604I|FBXL13_ENST00000313221.4_Silent_p.I649I|FBXL13_ENST00000436908.1_Silent_p.I649I|FBXL13_ENST00000379305.3_Silent_p.I621I|FBXL13_ENST00000379306.3_Silent_p.I367I			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	649										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GGTCCTCAAGGATTTGGTCAG	0.408000													26	71					5.61819e-17	2.99309e-16	0.000878237	1	0
CACHD1	57685	broad.mit.edu	37	1	65120376	65120376	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:65120376C>T	ENST00000371073.2	+	12	1672	c.1672C>T	c.(1672-1674)Ctg>Ttg	p.L558L	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.L507L			Q5VU97	CAHD1_HUMAN	cache domain containing 1	558					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CAGCCTCCCTCTGGGCAGCCA	0.433000													34	61					0	0	0.000692331	0	0
UGP2	7360	broad.mit.edu	37	2	64085069	64085069	+	Splice_Site	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:64085069C>A	ENST00000337130.5	+	3	730	c.254C>A	c.(253-255)tCg>tAg	p.S85*	UGP2_ENST00000467648.2_Splice_Site_p.S74*|UGP2_ENST00000394417.2_Splice_Site_p.S74*|UGP2_ENST00000445915.2_Splice_Site_p.S94*|UGP2_ENST00000487469.1_Intron	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	85					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CCTGAAGATTCGGTAAGTTTT	0.408000													5	108					0.00116845	0.0057906	0.00116845	1	0
TTK	7272	broad.mit.edu	37	6	80721190	80721190	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:80721190C>G	ENST00000509894.1	+	6	1482	c.653C>G	c.(652-654)tCa>tGa	p.S218*	TTK_ENST00000230510.3_Nonsense_Mutation_p.S218*|TTK_ENST00000369798.2_Nonsense_Mutation_p.S218*			P33981	TTK_HUMAN	TTK protein kinase	218					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTTCCGGTTCACTTGGGCAT	0.333000													12	35					0	0	0.000308642	0	0
ZNF223	7766	broad.mit.edu	37	19	44570883	44570883	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:44570883C>G	ENST00000591793.1	+	7	1315	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	ZNF223_ENST00000434772.3_Nonsense_Mutation_p.S301*			Q9UK11	ZN223_HUMAN	zinc finger protein 223	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S301L(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CGTCTTAGGTCAAGTCTTAAT	0.433000													13	80					0	0	0.00185496	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													6	91					0	0	0.00198382	0	0
UTP3	57050	broad.mit.edu	37	4	71554831	71554831	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr4:71554831G>C	ENST00000254803.2	+	1	636	c.437G>C	c.(436-438)cGa>cCa	p.R146P		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	146	Glu-rich.				brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TCCAAGTCCCGAGGCCGGCAG	0.562000													4	22					0	0	0.00024832	0	0
MKRN2	23609	broad.mit.edu	37	3	12618132	12618132	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:12618132C>G	ENST00000170447.7	+	6	997	c.860C>G	c.(859-861)tCt>tGt	p.S287C	MKRN2_ENST00000448482.1_Missense_Mutation_p.S285C|MKRN2_ENST00000411987.1_Missense_Mutation_p.S244C	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	287						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TATTTCAGGTCTTGTCCAGAA	0.423000													6	85					0	0	0.00116845	0	0
DAPK1	1612	broad.mit.edu	37	9	90254272	90254272	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr9:90254272G>C	ENST00000469640.2	+	5	802	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	DAPK1_ENST00000358077.5_Missense_Mutation_p.E143Q|DAPK1_ENST00000491893.1_Missense_Mutation_p.E143Q|DAPK1_ENST00000408954.3_Missense_Mutation_p.E143Q|DAPK1_ENST00000472284.1_Missense_Mutation_p.E143Q			P53355	DAPK1_HUMAN	death-associated protein kinase 1	143	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TTTCAAGCCTGAGAACATAAT	0.343000									Chronic Lymphocytic Leukemia, Familial Clustering of				8	88					0	0	0.000442599	0	0
IMPG2	50939	broad.mit.edu	37	3	100976551	100976551	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:100976551G>A	ENST00000193391.7	-	10	1162	c.975C>T	c.(973-975)ctC>ctT	p.L325L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	325	SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAAGGCTAATGAGGTCCCAGG	0.433000													9	54					0	0	0.000274275	0	0
MAP2K4	6416	broad.mit.edu	37	17	11998974	11998974	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:11998974C>T	ENST00000415385.3	+	5	562	c.509C>T	c.(508-510)cCa>cTa	p.P170L	MAP2K4_ENST00000353533.5_Missense_Mutation_p.P159L|MAP2K4_ENST00000581941.1_3'UTR	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	159	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AGTGATTGCCCATACATTGTT	0.373000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								9	62					0	0	0.000978159	0	0
TP73	7161	broad.mit.edu	37	1	3649497	3649497	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:3649497C>T	ENST00000378295.4	+	14	1920	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	TP73_ENST00000346387.4_Missense_Mutation_p.R493C|TP73_ENST00000378280.1_3'UTR|TP73_ENST00000357733.3_Missense_Mutation_p.R508C|TP73_ENST00000378285.1_3'UTR|TP73_ENST00000378290.4_Missense_Mutation_p.R518C|TP73_ENST00000604479.1_Missense_Mutation_p.R493C|TP73_ENST00000603362.1_Missense_Mutation_p.R508C|TP73_ENST00000354437.4_3'UTR|TP73_ENST00000378288.4_Missense_Mutation_p.R540C|TP73_ENST00000604074.1_3'UTR	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	589					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CGTGCACTTCCGCGTGCGCCA	0.716000													8	15					0	0	0.000157383	0	0
HMCN1	83872	broad.mit.edu	37	1	185987416	185987416	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:185987416G>A	ENST00000271588.4	+	34	5631	c.5402G>A	c.(5401-5403)gGc>gAc	p.G1801D	HMCN1_ENST00000367492.2_Missense_Mutation_p.G1801D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1801	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAAACACAGGCCTTTATCGG	0.438000													45	64					0	0	0.00195071	0	0
MAN1C1	57134	broad.mit.edu	37	1	26107448	26107448	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:26107448G>C	ENST00000374332.4	+	10	1825	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	MAN1C1_ENST00000263979.3_Missense_Mutation_p.E319Q|MAN1C1_ENST00000374329.1_Missense_Mutation_p.E270Q	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	499					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ACTTGGGCCTGAGGCCTTCTG	0.592000													24	40					0	0	0.000720815	0	0
CADM3	57863	broad.mit.edu	37	1	159166753	159166753	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:159166753C>T	ENST00000368125.4	+	7	1012	c.855C>T	c.(853-855)atC>atT	p.I285I	CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.I319I|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	285	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTGCCCTGATCTTCCCTTTCC	0.552000													42	40					0	0	0.00222228	0	0
ATP11B	23200	broad.mit.edu	37	3	182597294	182597294	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:182597294G>T	ENST00000323116.5	+	20	2523	c.2263G>T	c.(2263-2265)Gat>Tat	p.D755Y		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	755					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AATTACAGAGGATCATGTGAT	0.353000													11	29					6.40141e-05	0.000324795	0.000978159	1	0
CNIH2	254263	broad.mit.edu	37	11	66049795	66049795	+	Silent	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:66049795G>T	ENST00000528852.1	+	2	414	c.147G>T	c.(145-147)cgG>cgT	p.R49R	CNIH2_ENST00000530519.1_3'UTR|CNIH2_ENST00000311445.6_Silent_p.R49R			Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	49					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						ACCCTGCGCGGGCAGTAAGTG	0.637000													5	23					2.0095e-06	1.03186e-05	0.00198382	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76555204	76555204	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:76555204C>T	ENST00000307431.8	+	17	2915	c.2530C>T	c.(2530-2532)Cgc>Tgc	p.R844C	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R796C|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R848C|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R772C|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	845	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GATAGAGCTTCGCTGTAAGTC	0.343000													33	86					0	0	0.000692331	0	0
CD276	80381	broad.mit.edu	37	15	73992052	73992052	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr15:73992052C>T	ENST00000318443.5	+	2	374	c.72C>T	c.(70-72)tgC>tgT	p.C24C	CD276_ENST00000318424.5_Silent_p.C24C|CD276_ENST00000564751.1_Silent_p.C24C|CD276_ENST00000537340.2_Intron|CD276_ENST00000561213.1_Silent_p.C24C	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	24					cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TGTGGTTCTGCCTCACAGGTG	0.667000													4	18					0	0	0.00024832	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832962	101832962	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:101832962C>A	ENST00000263468.8	+	6	1466	c.1196C>A	c.(1195-1197)tCt>tAt	p.S399Y	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S200Y	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	399							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GACTCCACTTCTGGAGCATTC	0.403000													107	80					1.22908e-42	6.58082e-42	0.000781405	1	0
CARD16	114769	broad.mit.edu	37	11	104912208	104912208	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr11:104912208G>A	ENST00000375706.2	-	3	530	c.513C>T	c.(511-513)ctC>ctT	p.L171L	CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						TATGCAAGGGGAGCAGAAGTA	0.393000													12	141					0	0	0.00185496	0	0
MPO	4353	broad.mit.edu	37	17	56355394	56355394	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:56355394A>C	ENST00000340482.3	-	6	1270	c.1094T>G	c.(1093-1095)cTc>cGc	p.L365R	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000225275.3_Missense_Mutation_p.L333R			P05164	PERM_HUMAN	myeloperoxidase	333					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GAAGGAAGTGAGCGCGTTGAT	0.642000													4	73					0	0	0.00024832	0	0
ZFHX3	463	broad.mit.edu	37	16	72993756	72993756	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:72993756G>A	ENST00000268489.5	-	2	961	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	97					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGCAGTGGTGCTCCATGTAG	0.701000													4	13					0	0	0.00024832	0	0
OPA1	4976	broad.mit.edu	37	3	193385020	193385020	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:193385020G>C	ENST00000361510.2	+	29	3168	c.2934G>C	c.(2932-2934)aaG>aaC	p.K978N	OPA1_ENST00000361908.3_Missense_Mutation_p.K960N|OPA1_ENST00000392438.3_Missense_Mutation_p.K923N|OPA1_ENST00000361150.2_Missense_Mutation_p.K924N|OPA1_ENST00000361828.2_Missense_Mutation_p.K941N|OPA1_ENST00000361715.2_Missense_Mutation_p.K942N	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	923					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ATGGTGAGAAGAAGATTAAAT	0.393000													4	48					0	0	0.00024832	0	0
MYCBP2	23077	broad.mit.edu	37	13	77625965	77625965	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr13:77625965G>C	ENST00000407578.2	-	81	14002	c.13736C>G	c.(13735-13737)tCt>tGt	p.S4579C	MYCBP2_ENST00000357337.6_Missense_Mutation_p.S4541C|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S4541C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGAAACATCAGAACAGGCACC	0.408000													16	17					0	0	0.000308642	0	0
NPR3	4883	broad.mit.edu	37	5	32789775	32789775	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:32789775C>A	ENST00000326958.1	+	1	831	c.268C>A	c.(268-270)Ctt>Att	p.L90I	NPR3_ENST00000265074.8_3'UTR																							CATGTGCCTTCTTTGCCCCAA	0.403000													19	56					2.35188e-11	1.24364e-10	0.00074312	1	0
GPR50	9248	broad.mit.edu	37	X	150349251	150349251	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chrX:150349251C>T	ENST00000218316.3	+	2	1265	c.1196C>T	c.(1195-1197)tCt>tTt	p.S399F		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	399	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TATCGCAAATCTGCCTCTACC	0.597000													52	53					0	0	0.000781405	0	0
COG8	84342	broad.mit.edu	37	16	69373439	69373439	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr16:69373439G>C	ENST00000306875.4	-	1	131	c.17C>G	c.(16-18)aCt>aGt	p.T6S	RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000254940.5_5'UTR|RP11-343C2.9_ENST00000563634.1_Intron|COG8_ENST00000562081.1_Missense_Mutation_p.T6S	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	6					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CGATGGGATAGTCGCCGCGGT	0.637000											OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	19					0	0	0.000602214	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389542	19389542	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chrX:19389542G>A	ENST00000338883.4	-	23	3214	c.3215C>T	c.(3214-3216)tCa>tTa	p.S1072L	MAP3K15_ENST00000359173.3_Missense_Mutation_p.S507L|MAP3K15_ENST00000469203.2_Missense_Mutation_p.S904L|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1072							ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.S547*(1)|p.S1119*(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTTGAGCTTTGATATTGTGGT	0.527000													25	31					0	0	0.000720815	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11249969	11249969	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:11249969C>T	ENST00000376819.3	+	1	572	c.333C>T	c.(331-333)atC>atT	p.I111I	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	111					response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AAATTGACATCATGCAGCTGC	0.572000													6	43					0	0	0.000157383	0	0
DDX46	9879	broad.mit.edu	37	5	134117662	134117662	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:134117662C>G	ENST00000452510.2	+	8	1089	c.931C>G	c.(931-933)Caa>Gaa	p.Q311E	DDX46_ENST00000354283.4_Missense_Mutation_p.Q311E	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	311					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TACAGGGTATCAAACAAAACA	0.348000													8	15					0	0	0.000442599	0	0
TREX1	11277	broad.mit.edu	37	3	48508315	48508315	+	Silent	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr3:48508315G>C	ENST00000296443.9	+	3	1148	c.261G>C	c.(259-261)ctG>ctC	p.L87L	TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000422277.2_Silent_p.L142L|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000436480.2_Silent_p.L87L|TREX1_ENST00000444177.1_Silent_p.L77L|TREX1_ENST00000456089.1_Intron			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	142					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCACAGGTCTGAGCACAGCTG	0.637000													13	67					0	0	0.00244969	0	0
DGKD	8527	broad.mit.edu	37	2	234358712	234358712	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr2:234358712G>C	ENST00000264057.2	+	16	1985	c.1973G>C	c.(1972-1974)aGa>aCa	p.R658T	DGKD_ENST00000409813.3_Missense_Mutation_p.R614T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	658					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ATGGACCACAGAGTGTGCCCA	0.627000													5	31					0	0	0.000602214	0	0
DNAH5	1767	broad.mit.edu	37	5	13894861	13894861	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:13894861G>T	ENST00000265104.4	-	16	2433	c.2329C>A	c.(2329-2331)Cac>Aac	p.H777N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	777	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.H777Y(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGGCCAAGTGAGGGACAATC	0.413000									Kartagener syndrome				24	104					9.57634e-11	5.05128e-10	0.00047179	1	0
MUC17	140453	broad.mit.edu	37	7	100677277	100677277	+	Silent	SNP	T	T	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr7:100677277T>C	ENST00000306151.4	+	3	2644	c.2580T>C	c.(2578-2580)taT>taC	p.Y860Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	860	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTCAACTTATAGTGAAGGAA	0.483000													96	268					0	0	0.000781405	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256678	32256678	+	Silent	SNP	C	C	T			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr1:32256678C>T	ENST00000360482.2	-	16	3306	c.3177G>A	c.(3175-3177)ctG>ctA	p.L1059L	SPOCD1_ENST00000533231.1_Silent_p.L1046L|SPOCD1_ENST00000257100.3_Silent_p.L539L|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1059					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGGTGCCCTTCAGGGGCACAT	0.602000													11	23					0	0	0.000978159	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32905118	32905118	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:32905118C>G	ENST00000416244.2	-	3	647	c.453G>C	c.(451-453)aaG>aaC	p.K151N	HLA-DMB_ENST00000418107.2_Missense_Mutation_p.K151N			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	151	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GCTTCCCGTTCTTCCTCCACG	0.537000													22	50					0	0	0.00278032	0	0
FBXL14	144699	broad.mit.edu	37	12	1702577	1702577	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr12:1702577G>A	ENST00000339235.3	-	1	754	c.656C>T	c.(655-657)tCt>tTt	p.S219F	WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	219						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			GTGCTTTAGAGAAAGATCTGT	0.652000													5	29					0	0	0.000602214	0	0
DNAI2	64446	broad.mit.edu	37	17	72305492	72305492	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:72305492A>C	ENST00000579490.1	+	9	1618	c.1483A>C	c.(1483-1485)Atg>Ctg	p.M495L	DNAI2_ENST00000307504.5_Missense_Mutation_p.M295L|DNAI2_ENST00000582036.1_Missense_Mutation_p.M438L|DNAI2_ENST00000311014.6_Missense_Mutation_p.M438L|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000446837.2_Missense_Mutation_p.M438L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	438			V -> I (in dbSNP:rs28725418).		cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGGGACTTCATGTTCGAGCA	0.597000									Kartagener syndrome				12	21					0	0	0.00136819	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40841039	40841039	+	Silent	SNP	C	C	G			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:40841039C>G	ENST00000264638.4	+	10	1819	c.1602C>G	c.(1600-1602)ctC>ctG	p.L534L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	534	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTGAGGTCCTCTTTGATACAT	0.557000													5	59					0	0	0.000602214	0	0
DGKE	8526	broad.mit.edu	37	17	54936024	54936024	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr17:54936024G>C	ENST00000284061.3	+	9	1462	c.1282G>C	c.(1282-1284)Gag>Cag	p.E428Q		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	428					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TAAAAAAGTTGAGGTAAGCTA	0.259000													5	21					0	0	0.000602214	0	0
CKM	1158	broad.mit.edu	37	19	45811744	45811744	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:45811744G>A	ENST00000221476.3	-	6	874	c.700C>T	c.(700-702)Cac>Tac	p.H234Y		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	234	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	ACCCGGAGGTGATCCTCCTCG	0.592000													9	34					0	0	0.000442599	0	0
TM9SF4	9777	broad.mit.edu	37	20	30753235	30753235	+	Silent	SNP	G	G	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr20:30753235G>A	ENST00000217315.5	+	18	2206	c.1866G>A	c.(1864-1866)gtG>gtA	p.V622V	TM9SF4_ENST00000398022.2_Silent_p.V639V			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	639						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGCTGCTGTGAAGATAGACT	0.537000													11	39					0	0	0.000673444	0	0
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.H529fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	529					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													7	59	---	---	---	---					
PXT1	222659	broad.mit.edu	37	6	36359608	36359608	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:36359608delA	ENST00000454782.2	-	5	827	c.344delT	c.(343-345)ttcfs	p.F118fs	RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	35						peroxisome											AAAGAAAAAGAAGACAAAATG	0.343													33	56	---	---	---	---					
LOC153910	153910	broad.mit.edu	37	6	142860298	142860299	+	RNA	INS	-	-	T	rs143051118	by1000genomes	TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr6:142860298_142860299insT	ENST00000447311.1	-	0	364					NR_027312.1																						ttaggccagtatttttttttta	0.470													2	4	---	---	---	---					
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	TCC	-	rs137929518	byFrequency	TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr9:95277146_95277148delTCC	ENST00000344604.5	-	4	968_970	c.819_821delGGA	c.(817-822)gaggat>gat	p.E273del	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.E251del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ctcctcctcatcctcctcctcct	0.606													9	343	---	---	---	---					
ZNF225	7768	broad.mit.edu	37	19	44635201	44635202	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chr19:44635201_44635202delAG	ENST00000262894.6	+	5	714_715	c.434_435delAG	c.(433-435)cagfs	p.Q145fs	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Frame_Shift_Del_p.Q145fs	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	145				RQKP -> KTET (in Ref. 1; AAF04107).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CACGTAAGACAGAAACCTTCTG	0.426													17	104	---	---	---	---					
PIM2	11040	broad.mit.edu	37	X	48775058	48775059	+	Splice_Site	INS	-	-	A			TCGA-E7-A7DV-01A-11D-A339-08	TCGA-E7-A7DV-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058e6d43-be79-478c-87c5-c09ce903ee06	1f541473-3b8d-4713-a63b-84f5e749ceba	g.chrX:48775058_48775059insA	ENST00000376509.4	-	3	410_411	c.221_222insT	c.(220-222)ttg>ttTg	p.L74fs		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	74	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						AGGTACTCACCAAGGGGGACCA	0.564											OREG0019768	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---