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
GABRQ	55879	broad.mit.edu	37	X	151818304	151818304	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:151818304G>A	ENST00000370306.2	+	6	730	c.710G>A	c.(709-711)gGa>gAa	p.G237E		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	237						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTCCTGGGAAGGACGATT	0.483000													41	69					0	0	0.104719	0	0
NKAIN2	154215	broad.mit.edu	37	6	125139609	125139609	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:125139609G>T	ENST00000368417.1	+	6	672	c.612G>T	c.(610-612)atG>atT	p.M204I	NKAIN2_ENST00000546092.1_Missense_Mutation_p.M137I|NKAIN2_ENST00000545433.1_Missense_Mutation_p.M189I	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	204						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TACAGCCTATGTACATGTAAG	0.368000													13	36					3.27435e-08	3.36109e-08	0.119110	1	0
ACE	1636	broad.mit.edu	37	17	61566100	61566100	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:61566100C>T	ENST00000577647.1	+	5	720	c.675C>T	c.(673-675)ctC>ctT	p.L225L	ACE_ENST00000290863.6_Silent_p.L225L|ACE_ENST00000290866.4_Silent_p.L799L|ACE_ENST00000413513.3_Silent_p.L225L|ACE_ENST00000490216.2_Silent_p.L225L|ACE_ENST00000428043.1_Silent_p.L799L|ACE_ENST00000421982.2_Silent_p.L109L			P12821	ACE_HUMAN	angiotensin I converting enzyme	799	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGCCATCCTCCAGTTTTACC	0.557000													35	63					0	0	0.074837	0	0
NAA25	80018	broad.mit.edu	37	12	112492209	112492209	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:112492209G>A	ENST00000261745.4	-	14	1859	c.1611C>T	c.(1609-1611)atC>atT	p.I537I		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	537						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TATCATGCTGGATATGCTTAG	0.433000													17	42					0	0	0.146539	0	0
MUC6	4588	broad.mit.edu	37	11	1017269	1017269	+	Silent	SNP	G	G	A	rs71472140		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:1017269G>A	ENST00000421673.2	-	31	5582	c.5532C>T	c.(5530-5532)tcC>tcT	p.S1844S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1844	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAAGGAGGTGGAGAAAGATG	0.542000													11	531					0	0	0.105934	0	0
LRRC28	123355	broad.mit.edu	37	15	99874192	99874192	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:99874192C>T	ENST00000301981.3	+	6	690	c.450C>T	c.(448-450)ccC>ccT	p.P150P	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000422500.2_Intron|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000442993.2_Intron|LRRC28_ENST00000447360.2_Silent_p.P150P|LRRC28_ENST00000559399.1_3'UTR	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	150										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TAACTTTACCCGAGAGGCTTC	0.478000													29	48					0	0	0.116897	0	0
GPR123	84435	broad.mit.edu	37	10	134906625	134906625	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:134906625G>A	ENST00000607359.1	+	10	1896	c.1896G>A	c.(1894-1896)agG>agA	p.R632R	GPR123_ENST00000392607.3_Intron			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CACTGTGCAGGAAAGAAGGTT	0.617000													6	4					0	0	0.038147	0	0
DMD	1756	broad.mit.edu	37	X	32429959	32429959	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:32429959T>A	ENST00000357033.4	-	30	4349	c.4143A>T	c.(4141-4143)ttA>ttT	p.L1381F	DMD_ENST00000378677.2_Missense_Mutation_p.L1377F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1381					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTCCTGGATTAAGTGTAAGG	0.458000													26	43					0	0	0.108266	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374929	8374929	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:8374929G>A	ENST00000538603.1	-	7	1442	c.884C>T	c.(883-885)cCg>cTg	p.P295L	FAM90A1_ENST00000307435.6_Missense_Mutation_p.P295L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	295							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AATCGGAGCCGGGGCAGATCT	0.652000													22	72					0	0	0.069288	0	0
SPACA1	81833	broad.mit.edu	37	6	88757815	88757815	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:88757815G>A	ENST00000237201.1	+	1	309	c.192G>A	c.(190-192)ccG>ccA	p.P64P		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	64						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		ACTACGCTCCGCCTGAAACCG	0.647000													11	15					0	0	0.132662	0	0
KPRP	448834	broad.mit.edu	37	1	152732718	152732718	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:152732718C>T	ENST00000368773.1	+	2	712	c.654C>T	c.(652-654)ttC>ttT	p.F218F	KPRP_ENST00000606109.1_Silent_p.F218F	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	218						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGCTGTTTCCCTCAGTATC	0.572000													52	103					0	0	0.139131	0	0
CD22	933	broad.mit.edu	37	19	35837499	35837499	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:35837499C>T	ENST00000085219.5	+	14	2509	c.2443C>T	c.(2443-2445)Cca>Tca	p.P815S	CD22_ENST00000536635.2_Missense_Mutation_p.P727S|CD22_ENST00000594250.1_Missense_Mutation_p.P638S|CD22_ENST00000419549.2_Missense_Mutation_p.P643S|CD22_ENST00000341773.6_Missense_Mutation_p.P638S|CD22_ENST00000270311.6_Missense_Mutation_p.P630S|CD22_ENST00000544992.2_3'UTR	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	815					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TCCAGATTTTCCAGAAGATGA	0.532000													6	9					0	0	0.029380	0	0
XIRP1	165904	broad.mit.edu	37	3	39226215	39226215	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:39226215G>A	ENST00000340369.3	-	2	4950	c.4722C>T	c.(4720-4722)ttC>ttT	p.F1574F	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Silent_p.F257F	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1574							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAGGTCCCTGGAAATGGCCTC	0.587000													57	85					0	0	0.139131	0	0
ALPK2	115701	broad.mit.edu	37	18	56246229	56246229	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr18:56246229C>T	ENST00000361673.3	-	4	1992	c.1779G>A	c.(1777-1779)cgG>cgA	p.R593R	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	593							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATGGGAACTCCGACCAGTCG	0.493000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	55					0	0	0.091800	0	0
DLX5	1749	broad.mit.edu	37	7	96650112	96650112	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:96650112G>A	ENST00000222598.4	-	3	1279	c.806C>T	c.(805-807)tCc>tTc	p.S269F	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	269					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGGCAGGTGGGAATTGATTGA	0.597000													15	38					0	0	0.146539	0	0
PIK3CB	5291	broad.mit.edu	37	3	138402568	138402568	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:138402568T>C	ENST00000477593.1	-	17	2450	c.2377A>G	c.(2377-2379)Aag>Gag	p.K793E	PIK3CB_ENST00000544716.1_Missense_Mutation_p.K239E|PIK3CB_ENST00000289153.2_Missense_Mutation_p.K793E			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	793					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCAAATACCTTGTTATTGTAT	0.328000													165	337					0	0	0.139131	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													5	87					0	0	0.014758	0	0
SLFN5	162394	broad.mit.edu	37	17	33586549	33586549	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:33586549C>T	ENST00000299977.4	+	2	988	c.840C>T	c.(838-840)ttC>ttT	p.F280F	SLFN5_ENST00000592325.1_Silent_p.F280F|SLFN5_ENST00000542451.1_Silent_p.F280F	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	280					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TCCTTAACTTCCTTGAAGTGC	0.473000													47	98					0	0	0.139131	0	0
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:50370414A>G	ENST00000322344.3	-	2	157	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Silent_p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	16					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	p.P16P(8)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721000								Other BER factors					9	28					0	0	0.069234	0	0
TBC1D21	161514	broad.mit.edu	37	15	74180077	74180077	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:74180077G>A	ENST00000300504.2	+	9	977	c.894_splice	c.e9+1	p.L298_splice	TBC1D21_ENST00000562056.1_Splice_Site_p.L261_splice|TBC1D21_ENST00000535547.2_Splice_Site_p.L262_splice	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	298						intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						ACATCCTCCTGGTGAGAGCAC	0.652000													22	45					0	0	0.069288	0	0
C6	729	broad.mit.edu	37	5	41160458	41160458	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:41160458G>A	ENST00000263413.3	-	11	1734	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	C6_ENST00000337836.5_Silent_p.I490I|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	490	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCAAGTCCACGATGGGGGCAA	0.498000													16	43					0	0	0.132662	0	0
OR2M3	127062	broad.mit.edu	37	1	248367245	248367245	+	Silent	SNP	C	C	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:248367245C>A	ENST00000456743.1	+	1	914	c.876C>A	c.(874-876)ctC>ctA	p.L292L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACAGCCTCCGCAACAAGG	0.473000													30	51					1.06801e-11	1.10361e-11	0.144211	1	0
RBMXL2	27288	broad.mit.edu	37	11	7111505	7111505	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:7111505G>A	ENST00000306904.5	+	1	1341	c.1154G>A	c.(1153-1155)aGa>aAa	p.R385K		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	385	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCTTGGAGAGAGGAGGAGGC	0.552000													9	11					0	0	0.080935	0	0
CNR1	1268	broad.mit.edu	37	6	88854925	88854925	+	Nonsense_Mutation	SNP	C	C	T	rs144795421		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:88854925C>T	ENST00000549716.1	-	1	52	c.53G>A	c.(52-54)tGg>tAg	p.W18*	CNR1_ENST00000369501.2_Silent_p.V23V|CNR1_ENST00000537554.1_Silent_p.V23V|CNR1_ENST00000362094.5_Silent_p.V23V|CNR1_ENST00000369499.2_Silent_p.V23V|CNR1_ENST00000468898.1_Intron|CNR1_ENST00000535130.1_Silent_p.V23V|CNR1_ENST00000428600.2_Silent_p.V23V|CNR1_ENST00000549890.1_Silent_p.V23V			P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	0					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CATTTGAGCCCACGTACAGGA	0.463000													36	89					0	0	0.086207	0	0
ABL1	25	broad.mit.edu	37	9	133756025	133756025	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:133756025C>T	ENST00000318560.5	+	10	2033	c.1652C>T	c.(1651-1653)cCt>cTt	p.P551L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	551					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCTGAGATGCCTCACTCCAAG	0.622000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								12	17					0	0	0.105934	0	0
HERC2	8924	broad.mit.edu	37	15	28519439	28519439	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:28519439C>T	ENST00000261609.7	-	7	906	c.798G>A	c.(796-798)acG>acA	p.T266T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	266					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAACTCACCCCGTCACGACGG	0.577000													9	16					0	0	0.058154	0	0
RAD21	5885	broad.mit.edu	37	8	117866524	117866524	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr8:117866524G>A	ENST00000297338.2	-	9	1408	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	374	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AGCAGGTAAAGAAAACAGTTT	0.348000													38	29					0	0	0.098360	0	0
TCEA2	6919	broad.mit.edu	37	20	62700772	62700772	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr20:62700772C>T	ENST00000395053.3	+	5	543	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Missense_Mutation_p.P103S|TCEA2_ENST00000343484.5_Missense_Mutation_p.P130S			Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	130					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CACATTTCCTCCGGTGCCTGT	0.672000													11	8					0	0	0.080935	0	0
MUC5B	727897	broad.mit.edu	37	11	1260184	1260184	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:1260184G>A	ENST00000447027.1	+	26	3448	c.3390G>A	c.(3388-3390)acG>acA	p.T1130T	MUC5B_ENST00000529681.1_Silent_p.T1127T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1127	Cys-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTTTCTGCACGGCTGTGGCTG	0.672000													3	6					0	0	0.115264	0	0
CCDC135	84229	broad.mit.edu	37	16	57762339	57762339	+	Missense_Mutation	SNP	A	A	T	rs78948416		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:57762339A>T	ENST00000360716.3	+	17	2455	c.2234A>T	c.(2233-2235)gAg>gTg	p.E745V	CCDC135_ENST00000394337.4_Missense_Mutation_p.E745V|CCDC135_ENST00000336825.8_Missense_Mutation_p.E680V			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	745						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CGGCAGGTGGAGACCCAGCTG	0.607000													31	78					0	0	0.054565	0	0
CACNA1C	775	broad.mit.edu	37	12	2224481	2224481	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:2224481G>A	ENST00000399655.1	+	2	406	c.141G>A	c.(139-141)ggG>ggA	p.G47G	CACNA1C_ENST00000399591.1_Silent_p.G47G|CACNA1C_ENST00000399641.1_Silent_p.G47G|CACNA1C_ENST00000399617.1_Silent_p.G47G|CACNA1C_ENST00000399644.1_Silent_p.G47G|CACNA1C_ENST00000399621.1_Silent_p.G47G|CACNA1C_ENST00000399638.1_Silent_p.G47G|CACNA1C_ENST00000327702.7_Silent_p.G47G|CACNA1C_ENST00000344100.3_Silent_p.G47G|CACNA1C_ENST00000399637.1_Silent_p.G47G|CACNA1C_ENST00000399595.1_Silent_p.G47G|CACNA1C_ENST00000335762.5_Silent_p.G47G|CACNA1C_ENST00000406454.3_Silent_p.G47G|CACNA1C_ENST00000399603.1_Silent_p.G47G|CACNA1C_ENST00000399597.1_Silent_p.G47G|CACNA1C_ENST00000399634.1_Silent_p.G47G|CACNA1C_ENST00000399601.1_Silent_p.G47G|CACNA1C_ENST00000480911.1_Silent_p.G47G|CACNA1C_ENST00000399606.1_Silent_p.G47G|CACNA1C_ENST00000399629.1_Silent_p.G47G|CACNA1C_ENST00000347598.4_Silent_p.G47G|CACNA1C_ENST00000402845.3_Silent_p.G47G|CACNA1C_ENST00000399649.1_Silent_p.G47G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	47					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCACCCCGGGGGCTGCCCTGT	0.677000													5	7					0	0	0.014758	0	0
SDK1	221935	broad.mit.edu	37	7	4091391	4091391	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:4091391C>T	ENST00000404826.2	+	19	2979	c.2840C>T	c.(2839-2841)tCc>tTc	p.S947F	SDK1_ENST00000389531.3_Missense_Mutation_p.S947F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	947	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TACTTCACTTCCGTTCTGTGC	0.552000													42	94					0	0	0.117977	0	0
RAF1	5894	broad.mit.edu	37	3	12641889	12641889	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:12641889G>T	ENST00000251849.4	-	8	1299	c.860C>A	c.(859-861)tCa>tAa	p.S287*	RAF1_ENST00000442415.2_Nonsense_Mutation_p.S307*|RAF1_ENST00000542177.1_Nonsense_Mutation_p.S206*|RAF1_ENST00000534997.1_Nonsense_Mutation_p.S72*	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	287					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)	AAAAGTACCTGATTCGCTGTG	0.413000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				18	38					1.00905e-13	1.05321e-13	0.049695	1	0
GAK	2580	broad.mit.edu	37	4	845554	845554	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:845554G>A	ENST00000314167.4	-	25	3602	c.3492C>T	c.(3490-3492)gtC>gtT	p.V1164V	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.V1085V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1164					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGGGTGCGCGGACCCCCCGCT	0.597000													28	43					0	0	0.125774	0	0
CA10	56934	broad.mit.edu	37	17	50008478	50008478	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:50008478C>T	ENST00000451037.2	-	3	1091	c.151G>A	c.(151-153)Gga>Aga	p.G51R	CA10_ENST00000442502.2_Missense_Mutation_p.G51R|CA10_ENST00000340813.6_Missense_Mutation_p.G57R|CA10_ENST00000285273.4_Missense_Mutation_p.G51R|CA10_ENST00000570565.1_5'UTR	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	51					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTCACCAATCCCCAGAAAGAA	0.438000													40	80					0	0	0.092188	0	0
ZNF646	9726	broad.mit.edu	37	16	31092343	31092343	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:31092343C>T	ENST00000394979.2	+	1	5121	c.4698C>T	c.(4696-4698)ttC>ttT	p.F1566F	ZNF646_ENST00000300850.5_Silent_p.F1566F			O15015	ZN646_HUMAN	zinc finger protein 646	1566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCAAGGAGTTCTTAAATCCTG	0.542000													34	52					0	0	0.059317	0	0
TTC21B	79809	broad.mit.edu	37	2	166747104	166747104	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:166747104G>A	ENST00000243344.7	-	24	3285	c.3148C>T	c.(3148-3150)Cgg>Tgg	p.R1050W	TTC21B_ENST00000536175.1_5'UTR	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1050						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CGATCTTTCCGAGCTTTATTA	0.338000													11	12					0	0	0.093190	0	0
PDP1	54704	broad.mit.edu	37	8	94935737	94935737	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr8:94935737C>T	ENST00000396200.3	+	3	1801	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	PDP1_ENST00000517764.1_Missense_Mutation_p.R484C|PDP1_ENST00000297598.4_Missense_Mutation_p.R484C|PDP1_ENST00000520728.1_Missense_Mutation_p.R484C	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	484					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCATCTCATTCGCCACGCTGT	0.478000													33	110					0	0	0.069456	0	0
SDK1	221935	broad.mit.edu	37	7	3658864	3658864	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:3658864G>T	ENST00000404826.2	+	2	590	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.E151*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	151	Ig-like C2-type 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTACAGCAGCGAATATAAGTA	0.453000													12	34					9.05144e-12	9.38444e-12	0.105934	1	0
HIP1	3092	broad.mit.edu	37	7	75178284	75178284	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:75178284C>T	ENST00000336926.6	-	23	2337	c.2311G>A	c.(2311-2313)Gga>Aga	p.G771R	HIP1_ENST00000434438.2_Missense_Mutation_p.G771R	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	771	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ATGTCCAGTCCCCTGGGCAGG	0.562000			T	PDGFRB	CMML								46	93					0	0	0.111260	0	0
NME8	51314	broad.mit.edu	37	7	37916566	37916566	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:37916566G>A	ENST00000199447.4	+	12	1323	c.951G>A	c.(949-951)aaG>aaA	p.K317K	NME8_ENST00000440017.1_Silent_p.K317K|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	317	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AATTAGAAAAGACATTGGCAT	0.333000													7	28					0	0	0.058154	0	0
ADH1C	126	broad.mit.edu	37	4	100261813	100261813	+	RNA	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:100261813C>T	ENST00000515683.1	-	0	1234					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGGAGGTACCCCTACAATG	0.458000													69	131					0	0	0.139131	0	0
RFX6	222546	broad.mit.edu	37	6	117250035	117250035	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:117250035C>T	ENST00000332958.2	+	18	2528	c.2512C>T	c.(2512-2514)Cac>Tac	p.H838Y		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	838					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAGTGACATCCACGATCCACT	0.473000													29	52					0	0	0.108266	0	0
MAML3	55534	broad.mit.edu	37	4	140651714	140651714	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:140651714G>A	ENST00000509479.2	-	3	3043	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	725	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGCTGCCCAGGAAGCCGGGGC	0.622000													4	9					0	0	0.009096	0	0
BMP3	651	broad.mit.edu	37	4	81967316	81967316	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:81967316C>T	ENST00000282701.2	+	2	1061	c.741C>T	c.(739-741)gcC>gcT	p.A247A		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	247					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCAATGATGCCGCCATTTCTG	0.483000													43	72					0	0	0.104719	0	0
UROC1	131669	broad.mit.edu	37	3	126224812	126224812	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:126224812G>A	ENST00000290868.2	-	7	698	c.645C>T	c.(643-645)ccC>ccT	p.P215P	UROC1_ENST00000383579.3_Silent_p.P215P	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	215					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CGATTCCCTGGGGACCGATGT	0.657000													28	36					0	0	0.116897	0	0
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								23	42					0	0	0.076483	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													3	39					0	0	0.009096	0	0
WDR64	128025	broad.mit.edu	37	1	241904917	241904917	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:241904917A>G	ENST00000366552.2	+	11	1598	c.1391A>G	c.(1390-1392)aAc>aGc	p.N464S	WDR64_ENST00000437684.2_Missense_Mutation_p.N464S	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	464										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ATGCTTTACAACAAATATTTT	0.348000													9	20					0	0	0.047766	0	0
P2RY8	286530	broad.mit.edu	37	X	1584751	1584751	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:1584751C>T	ENST00000381297.4	-	2	911	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	234						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCCACCGCGCGCCTCCGCTG	0.657000			T	CRLF2	"""B-ALL, Downs associated ALL"""								15	30					0	0	0.119110	0	0
PSG9	5678	broad.mit.edu	37	19	43762547	43762547	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:43762547G>A	ENST00000244293.7	-	4	837	c.771C>T	c.(769-771)ctC>ctT	p.L257L	PSG9_ENST00000593948.1_Silent_p.L257L|PSG9_ENST00000596730.1_Silent_p.L164L|PSG9_ENST00000443718.3_Silent_p.L257L|PSG9_ENST00000291752.5_Silent_p.L164L|PSG9_ENST00000418820.2_Silent_p.L257L|PSG9_ENST00000270077.3_Silent_p.L350L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	255	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGGACAAGTCGAGGTTTTCTC	0.453000													82	138					0	0	0.139131	0	0
MED24	9862	broad.mit.edu	37	17	38188975	38188975	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:38188975G>C	ENST00000394126.1	-	8	1356	c.938C>G	c.(937-939)gCt>gGt	p.A313G	MED24_ENST00000501516.3_Missense_Mutation_p.A307G|MED24_ENST00000394128.2_Missense_Mutation_p.A288G|MED24_ENST00000356271.3_Missense_Mutation_p.A275G|MED24_ENST00000394127.2_Missense_Mutation_p.A275G			O75448	MED24_HUMAN	mediator complex subunit 24	288					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACGAAGCAAGCTTTCCAGAT	0.577000													30	63					0	0	0.064281	0	0
TPH2	121278	broad.mit.edu	37	12	72425076	72425076	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:72425076C>T	ENST00000333850.3	+	10	1344	c.1203C>T	c.(1201-1203)gaC>gaT	p.D401D		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	401					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AAGCCTTTGACCCAAAGACAA	0.418000													37	53					0	0	0.074837	0	0
MAP3K1	4214	broad.mit.edu	37	5	56178115	56178115	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:56178115C>T	ENST00000399503.3	+	14	3088	c.3088C>T	c.(3088-3090)Cac>Tac	p.H1030Y		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1030					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TCTACAATTCCACAGAAACTG	0.448000													20	54					0	0	0.043863	0	0
SCNN1D	6339	broad.mit.edu	37	1	1226673	1226673	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:1226673C>T	ENST00000338555.2	+	15	2744	c.1600C>T	c.(1600-1602)Ctg>Ttg	p.L534L	SCNN1D_ENST00000379116.5_Silent_p.L698L|SCNN1D_ENST00000325425.8_Silent_p.L600L|SCNN1D_ENST00000400928.3_Silent_p.L534L					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	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)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTCTGCAGCCTGTGGTTTGG	0.726000													9	2					0	0	0.047766	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819661	159819661	+	RNA	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:159819661G>A	ENST00000497452.1	-	0	517																											AAACCAGATGGAACAACGACG	0.502000													44	69					0	0	0.111260	0	0
FGA	2243	broad.mit.edu	37	4	155509998	155509998	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:155509998G>A	ENST00000302053.3	-	3	389	c.311C>T	c.(310-312)tCg>tTg	p.S104L	FGA_ENST00000403106.3_Missense_Mutation_p.S104L	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	104					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGTGGTCAACGAATGAGAATC	0.294000													45	112					0	0	0.139131	0	0
FARP1	10160	broad.mit.edu	37	13	99092481	99092481	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr13:99092481C>T	ENST00000376586.2	+	24	3050	c.2714C>T	c.(2713-2715)cCt>cTt	p.P905L	FARP1_ENST00000595437.1_Missense_Mutation_p.P905L|FARP1_ENST00000319562.6_Missense_Mutation_p.P874L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	874					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGCAGCCCCCCTGACAACAGT	0.612000													45	61					0	0	0.104719	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814337	106814337	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr8:106814337C>T	ENST00000407775.2	+	8	2277	c.2027C>T	c.(2026-2028)cCc>cTc	p.P676L	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P544L|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P407L|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P544L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	676					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAGTGTCCCCTTAGTGGAT	0.428000													19	17					0	0	0.043863	0	0
AMPD1	270	broad.mit.edu	37	1	115221019	115221019	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:115221019C>T	ENST00000369538.3	-	7	1161	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	AMPD1_ENST00000520113.2_Missense_Mutation_p.E376K|AMPD1_ENST00000353928.6_Missense_Mutation_p.E343K	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	343					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCAAAAAGTTCCTTTAGGGTC	0.378000													24	44					0	0	0.083992	0	0
SMPD3	55512	broad.mit.edu	37	16	68405851	68405851	+	Silent	SNP	C	C	T	rs147838351		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:68405851C>T	ENST00000219334.5	-	3	837	c.234G>A	c.(232-234)gcG>gcA	p.A78A	SMPD3_ENST00000563226.1_Silent_p.A78A|SMPD3_ENST00000568373.1_Silent_p.A78A	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	78					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGCCGAGAAACGCAAAGGGCA	0.672000													15	34					0	0	0.146539	0	0
HBD	3045	broad.mit.edu	37	11	5255401	5255401	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:5255401G>A	ENST00000380299.3	-	2	349	c.135C>T	c.(133-135)tcC>tcT	p.S45S	HBD_ENST00000292901.3_Silent_p.S45S	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	45					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCCCCAAAGGACTCAAAGA	0.527000													28	62					0	0	0.134883	0	0
GCN1L1	10985	broad.mit.edu	37	12	120575810	120575810	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:120575810G>A	ENST00000300648.6	-	48	6300	c.6288C>T	c.(6286-6288)ttC>ttT	p.F2096F		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2096					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGACGAAAGGAAAGCCAGCA	0.577000													6	20					0	0	0.021553	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280605	105280605	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:105280605C>T	ENST00000327674.4	-	1	780	c.445G>A	c.(445-447)Gat>Aat	p.D149N	SERPINA7_ENST00000372563.1_Missense_Mutation_p.D149N			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	149					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCTTGACATCATTCAAGAAC	0.428000													69	139					0	0	0.139131	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5240009	5240009	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:5240009G>A	ENST00000274181.7	+	16	2632	c.2494G>A	c.(2494-2496)Gga>Aga	p.G832R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	832	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AATCGCTACTGGACCAACCAA	0.512000													41	80					0	0	0.111260	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70819825	70819825	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:70819825G>A	ENST00000370944.4	-	1	580	c.267C>T	c.(265-267)tcC>tcT	p.S89S	ANKRD13C_ENST00000262346.6_Silent_p.S89S	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	89					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CCGGGGACTGGGAGTTGGCAG	0.677000													48	92					0	0	0.139131	0	0
FUT9	10690	broad.mit.edu	37	6	96651433	96651433	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:96651433G>A	ENST00000302103.5	+	3	728	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	134					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GGATTTGGATGAATTTGGAAT	0.458000													20	41					0	0	0.043863	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724205	140724205	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:140724205G>A	ENST00000253812.6	+	1	605	c.605G>A	c.(604-606)cGt>cAt	p.R202H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.R202H(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGACCGTGAGAAAAAA	0.537000													27	49					0	0	0.108266	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622410	41622410	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:41622410G>A	ENST00000331105.2	+	3	294	c.222G>A	c.(220-222)cgG>cgA	p.R74R		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	74					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GACCCAGGCGGGTGGTGGTCC	0.597000													45	94					0	0	0.139131	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103470286	103470286	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr14:103470286G>A	ENST00000361246.2	-	4	714	c.426C>T	c.(424-426)gcC>gcT	p.A142A		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	142	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGTCCTGAAAGGCGTAGTGCA	0.572000													14	8					0	0	0.146539	0	0
OR4A47	403253	broad.mit.edu	37	11	48510798	48510798	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:48510798C>T	ENST00000446524.1	+	1	530	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGGAGGATTTCTGCACTCAGT	0.428000													23	47					0	0	0.062417	0	0
DNAH5	1767	broad.mit.edu	37	5	13922271	13922271	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:13922271G>A	ENST00000265104.4	-	5	709	c.605C>T	c.(604-606)tCc>tTc	p.S202F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	202	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					GCCTTCCAGGGAGCTCAAGAA	0.542000									Kartagener syndrome				10	26					0	0	0.093190	0	0
RRNAD1	51093	broad.mit.edu	37	1	156702139	156702139	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:156702139C>T	ENST00000524343.1	+	2	323	c.178C>T	c.(178-180)Ccg>Tcg	p.P60S	RRNAD1_ENST00000368216.4_Silent_p.T101T|RRNAD1_ENST00000368218.4_Silent_p.T101T|RRNAD1_ENST00000476229.1_5'UTR			Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	0						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TGGCCTTTACCCGGATGCCTG	0.597000													16	59					0	0	0.038395	0	0
MMP11	4320	broad.mit.edu	37	22	24125674	24125674	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr22:24125674C>T	ENST00000598975.1	-	1	471	c.472G>A	c.(472-474)Ggg>Agg	p.G158R	MMP11_ENST00000215743.3_Silent_p.P470P																							AAGGCTTCCCCCGTCTCGTGG	0.607000													37	80					0	0	0.074837	0	0
HEPH	9843	broad.mit.edu	37	X	65476088	65476088	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:65476088G>A	ENST00000519389.1	+	17	3153	c.2974G>A	c.(2974-2976)Gaa>Aaa	p.E992K	HEPH_ENST00000441993.2_Missense_Mutation_p.E941K|HEPH_ENST00000336279.5_Missense_Mutation_p.E671K|HEPH_ENST00000374727.3_Missense_Mutation_p.E941K|HEPH_ENST00000343002.2_Missense_Mutation_p.E938K|HEPH_ENST00000419594.1_Missense_Mutation_p.E749K			Q9BQS7	HEPH_HUMAN	hephaestin	938	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTATTTGGAGGAAAATGTGGC	0.433000													26	37					0	0	0.116897	0	0
PTPRD	5789	broad.mit.edu	37	9	8486162	8486162	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:8486162G>A	ENST00000381196.4	-	25	3198	c.2655C>T	c.(2653-2655)atC>atT	p.I885I	PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Silent_p.I885I|PTPRD_ENST00000360074.4_Silent_p.I872I|PTPRD_ENST00000358503.5_Silent_p.I863I|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.I885I|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	885	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTCCCTTGTGGATGTCTGTAG	0.463000										TSP Lung(15;0.13)			20	18					0	0	0.062417	0	0
XPOT	11260	broad.mit.edu	37	12	64828325	64828325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:64828325C>T	ENST00000332707.5	+	20	3020	c.2491C>T	c.(2491-2493)Caa>Taa	p.Q831*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	831	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TACTGTTATCCAAGGAGCAGT	0.353000													15	43					0	0	0.119110	0	0
DUOX2	50506	broad.mit.edu	37	15	45388058	45388058	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:45388058G>A	ENST00000389039.6	-	30	4433	c.4048C>T	c.(4048-4050)Cca>Tca	p.P1350S	DUOX2_ENST00000603300.1_Missense_Mutation_p.P1350S			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1350	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGCCCTTTGGGGATGAGTAG	0.632000													15	35					0	0	0.119110	0	0
APOB	338	broad.mit.edu	37	2	21232960	21232960	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:21232960G>A	ENST00000233242.1	-	26	6907	c.6780C>T	c.(6778-6780)atC>atT	p.I2260I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2260					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTGTATCTGGATTCTGATTT	0.343000													223	142					0	0	0.139131	0	0
MUC16	94025	broad.mit.edu	37	19	8969339	8969339	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:8969339G>A	ENST00000397910.4	-	79	43208	c.43005C>T	c.(43003-43005)tcC>tcT	p.S14335S	MUC16_ENST00000380951.5_Silent_p.S976S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14431	SEA 15.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTGTCCTGGGAATATGGTA	0.473000													43	56					0	0	0.111260	0	0
MYO19	80179	broad.mit.edu	37	17	34859798	34859798	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:34859798G>A	ENST00000431794.3	-	20	2490	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	MYO19_ENST00000268852.9_Silent_p.F456F	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	656	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACCGGATGGGGAAGCCAGCAG	0.632000													3	8					0	0	0.115264	0	0
MYO9B	4650	broad.mit.edu	37	19	17306052	17306052	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:17306052C>T	ENST00000595618.1	+	22	3968	c.3816C>T	c.(3814-3816)ccC>ccT	p.P1272P	MYO9B_ENST00000397274.2_Silent_p.P1272P|MYO9B_ENST00000594824.1_Silent_p.P1272P	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1272	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCGAGACCCCCGAGGACAAGA	0.711000													15	34					0	0	0.132662	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151220403	151220403	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:151220403C>T	ENST00000414290.2	+	7	587	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	PIP5K1A_ENST00000409426.1_3'UTR|PIP5K1A_ENST00000441902.2_3'UTR|PIP5K1A_ENST00000368890.4_3'UTR			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	58	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAGATGTCAGCCCTTGCCCCA	0.458000													8	8					0	0	0.038147	0	0
KMT2D	8085	broad.mit.edu	37	12	49427579	49427579	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:49427579G>A	ENST00000301067.7	-	39	10908	c.10909C>T	c.(10909-10911)Cct>Tct	p.P3637S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCATGGCCAGGGAGCAGCTGA	0.667000													6	16					0	0	0.029380	0	0
DNAH10	196385	broad.mit.edu	37	12	124414959	124414959	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:124414959G>A	ENST00000409039.3	+	72	12294	c.12269G>A	c.(12268-12270)gGa>gAa	p.G4090E	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_3'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4090					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTCATGTATGGAGGACGGGCC	0.567000													5	13					0	0	0.021553	0	0
NFIC	4782	broad.mit.edu	37	19	3452490	3452490	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:3452490G>A	ENST00000589123.1	+	8	1188	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R	NFIC_ENST00000586919.1_Silent_p.R332R|NFIC_ENST00000443272.2_Silent_p.R365R|NFIC_ENST00000346156.5_Silent_p.R332R|NFIC_ENST00000341919.3_Silent_p.R365R|NFIC_ENST00000590282.1_Silent_p.R365R|NFIC_ENST00000395111.3_Silent_p.R356R	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	365					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)		GGATCGCCCGGAGCCCACACC	0.647000													81	248					0	0	0.139131	0	0
IGHA2	3494	broad.mit.edu	37	14	106053600	106053600	+	RNA	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr14:106053600C>T	ENST00000390539.2	-	0	696																											GTCAGCGTCACCAGCTCGTTC	0.667000													11	28					0	0	0.119110	0	0
MAP7D2	256714	broad.mit.edu	37	X	20034251	20034251	+	Silent	SNP	T	T	C			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:20034251T>C	ENST00000379651.3	-	10	1500	c.1482A>G	c.(1480-1482)caA>caG	p.Q494Q	MAP7D2_ENST00000443379.3_Silent_p.Q449Q|MAP7D2_ENST00000379643.5_Silent_p.Q535Q|MAP7D2_ENST00000543767.1_Silent_p.Q379Q|MAP7D2_ENST00000452324.3_Silent_p.Q442Q	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	494										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						tttcttgttcttgcttttctt	0.428000													6	10					0	0	0.021553	0	0
ABCC12	94160	broad.mit.edu	37	16	48125042	48125042	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:48125042C>T	ENST00000311303.3	-	23	3619	c.3274G>A	c.(3274-3276)Gaa>Aaa	p.E1092K	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1092						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GAAATGTATTCCCTGAGCAGC	0.498000													54	111					0	0	0.139131	0	0
OR9A4	130075	broad.mit.edu	37	7	141618923	141618923	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:141618923G>A	ENST00000548136.1	+	1	307	c.248G>A	c.(247-249)gGa>gAa	p.G83E	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ATGCTTTGGGGATTGCTGCTC	0.517000													37	109					0	0	0.064281	0	0
MUC16	94025	broad.mit.edu	37	19	9048053	9048053	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:9048053G>A	ENST00000397910.4	-	5	33781	c.33578C>T	c.(33577-33579)tCa>tTa	p.S11193L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11195	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAATGGCTGAAATCATCTT	0.448000													11	11					0	0	0.093190	0	0
FAM179A	165186	broad.mit.edu	37	2	29240795	29240795	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:29240795G>A	ENST00000379558.4	+	10	1684	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	445							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCCGGCAGGAGCCCCGCTT	0.687000													12	6					0	0	0.105934	0	0
TLN2	83660	broad.mit.edu	37	15	62967500	62967500	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:62967500G>A	ENST00000561311.1	+	10	1167	c.937G>A	c.(937-939)Gtg>Atg	p.V313M	TLN2_ENST00000306829.6_Missense_Mutation_p.V313M			Q9Y4G6	TLN2_HUMAN	talin 2	313	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CACATATGGCGTGTCCTTCTT	0.502000													23	50					0	0	0.108266	0	0
ARC	23237	broad.mit.edu	37	8	143695445	143695445	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr8:143695445C>T	ENST00000356613.2	-	1	1388	c.188G>A	c.(187-189)gGg>gAg	p.G63E		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	63					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CCGGTGCAGCCCCTTCAGCTC	0.682000													6	17					0	0	0.038147	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16877421	16877421	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:16877421G>A	ENST00000355661.3	-	5	356	c.346C>T	c.(346-348)Ccg>Tcg	p.P116S	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P116S|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P116S|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	116					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ATGCTGGACGGTCTTTGGTTT	0.552000													72	126					0	0	0.139131	0	0
STX1B	112755	broad.mit.edu	37	16	31012906	31012906	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:31012906C>T	ENST00000215095.5	-	2	280	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	STX1B_ENST00000565419.1_Missense_Mutation_p.E17K	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	17				E -> K (in Ref. 1; BAA07152).	intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						ACCTCCTCTTCATCATCACTG	0.617000													17	25					0	0	0.049695	0	0
HTR5A	3361	broad.mit.edu	37	7	154876005	154876005	+	Silent	SNP	C	C	T	rs145653373		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:154876005C>T	ENST00000287907.2	+	2	1458	c.882C>T	c.(880-882)ttC>ttT	p.F294F	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	294						integral to plasma membrane	serotonin receptor activity	p.F294L(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTGGCGTGTTCGTGCTCTGCT	0.622000													34	65					0	0	0.064281	0	0
SPTBN4	57731	broad.mit.edu	37	19	41021331	41021331	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:41021331C>T	ENST00000352632.3	+	15	2965	c.2879C>T	c.(2878-2880)tCc>tTc	p.S960F	SPTBN4_ENST00000598249.1_Missense_Mutation_p.S960F|SPTBN4_ENST00000595535.1_Missense_Mutation_p.S960F|SPTBN4_ENST00000344104.3_Missense_Mutation_p.S960F|SPTBN4_ENST00000338932.3_Missense_Mutation_p.S960F			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	960					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTGCGTTCCTGCCAGGAC	0.607000													8	8					0	0	0.038147	0	0
GPR123	84435	broad.mit.edu	37	10	134910573	134910573	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:134910573G>A	ENST00000607359.1	+	12	2259	c.2259G>A	c.(2257-2259)ctG>ctA	p.L753L	GPR123_ENST00000392607.3_Silent_p.L33L			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	33						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TCTGCCTCCTGGCCTCCTTCG	0.622000													25	26					0	0	0.091800	0	0
MUC4	4585	broad.mit.edu	37	3	195491985	195491985	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:195491985C>T	ENST00000463781.3	-	10	14266	c.13807G>A	c.(13807-13809)Ggc>Agc	p.G4603S	MUC4_ENST00000475231.1_Missense_Mutation_p.G4551S|MUC4_ENST00000346145.4_Missense_Mutation_p.G367S|MUC4_ENST00000349607.4_Missense_Mutation_p.G316S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1360					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGCCGAGGCCCCAGCGACCT	0.662000													12	12					0	0	0.080935	0	0
TICAM2	353376	broad.mit.edu	37	5	114916853	114916853	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:114916853G>A	ENST00000408996.4	-	4	994	c.608C>T	c.(607-609)tCc>tTc	p.S203F	TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.S203F|TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000427199.2_Missense_Mutation_p.S34F	NM_001164468.2|NM_001164469.2	NP_001157940.1|NP_001157941.1			toll-like receptor adaptor molecule 2											cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		AGACTTCTTGGAATCTGACTC	0.468000													43	95					0	0	0.104719	0	0
GRIK3	2899	broad.mit.edu	37	1	37291238	37291238	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:37291238G>T	ENST00000373091.3	-	11	1736	c.1720C>A	c.(1720-1722)Ctg>Atg	p.L574M	GRIK3_ENST00000373093.4_Missense_Mutation_p.L574M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	574					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTGACCCCCAGGTAGGCGAGG	0.567000													14	21					1.05317e-09	1.08466e-09	0.119110	1	0
DHX16	8449	broad.mit.edu	37	6	30627339	30627339	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:30627339G>A	ENST00000376442.3	-	12	2112	c.1917C>T	c.(1915-1917)atC>atT	p.I639I	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Silent_p.I158I	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	639	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GGAGCTCCCGGATTTTGGAGC	0.612000													9	18					0	0	0.047766	0	0
TEX101	83639	broad.mit.edu	37	19	43922358	43922358	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:43922358G>A	ENST00000602198.1	+	8	1055	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.A205T|TEX101_ENST00000598265.1_Missense_Mutation_p.A187T	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	187						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				AGGCTGTACAGCCATGATTGG	0.507000													30	66					0	0	0.144211	0	0
ZNF676	163223	broad.mit.edu	37	19	22363885	22363885	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:22363885G>A	ENST00000397121.2	-	3	951	c.634C>T	c.(634-636)Ctt>Ttt	p.L212F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	212				KFSILTKHKVIHT -> WSSSLTEHKRIHA (in Ref. 2; BAC05174).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TGTTTAGTAAGGATTGAGAAC	0.353000													14	28					0	0	0.105934	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846162	43846162	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:43846162T>C	ENST00000389420.3	-	14	1993	c.1994A>G	c.(1993-1995)tAt>tGt	p.Y665C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Y665C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	665	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAGGTAGAAATAATTGGTTCC	0.338000													22	34					0	0	0.062417	0	0
IL15RA	3601	broad.mit.edu	37	10	5995144	5995144	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:5995144C>T	ENST00000525219.2	-	7	904	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	IL15RA_ENST00000528354.1_Missense_Mutation_p.E207K|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397248.2_Missense_Mutation_p.E204K|IL15RA_ENST00000379971.1_3'UTR|IL15RA_ENST00000379977.3_Missense_Mutation_p.E240K|IL15RA_ENST00000397250.2_Missense_Mutation_p.E142K|IL15RA_ENST00000397251.3_Missense_Mutation_p.E175K	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	240					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTTCCATTTCAACGCTGGCC	0.547000													42	58					0	0	0.139131	0	0
CRISP3	10321	broad.mit.edu	37	6	49703299	49703299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:49703299C>T	ENST00000433368.2	-	4	333	c.264G>A	c.(262-264)tgG>tgA	p.W88*	CRISP3_ENST00000371159.4_Nonsense_Mutation_p.W96*|CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000263045.4_Nonsense_Mutation_p.W78*|CRISP3_ENST00000393666.1_Nonsense_Mutation_p.W65*	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	65					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CCTCTTTGTTCCATTCCTGAA	0.378000													37	57					0	0	0.086207	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762876	130762876	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:130762876G>A	ENST00000392429.1	+	2	3687	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	TMEM200A_ENST00000296978.3_Missense_Mutation_p.E437K|TMEM200A_ENST00000545622.1_Missense_Mutation_p.E437K	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	437						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGAGAACAAAGAAGACCCGAT	0.423000													22	33					0	0	0.069288	0	0
TLR9	54106	broad.mit.edu	37	3	52257979	52257979	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:52257979G>A	ENST00000597542.1	-	9	1382	c.425C>T	c.(424-426)aCc>aTc	p.T142I	TLR9_ENST00000494383.1_Silent_p.H271H|TLR9_ENST00000360658.2_Missense_Mutation_p.T118I			Q9NR96	TLR9_HUMAN	toll-like receptor 9	118					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AGCCAAGAAGGTGCTGGGCTC	0.602000													53	90					0	0	0.139131	0	0
OR52N4	390072	broad.mit.edu	37	11	5776500	5776500	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:5776500C>T	ENST00000317254.3	+	1	578	c.530C>T	c.(529-531)cCc>cTc	p.P177L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AATATACTTCCCCATACCTAC	0.493000													33	59					0	0	0.045705	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266137	41266137	+	Missense_Mutation	SNP	C	C	G	rs121913409		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:41266137C>G	ENST00000349496.5	+	3	414	c.134C>G	c.(133-135)tCt>tGt	p.S45C	CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S45F(384)|p.S45del(53)|p.A5_A80del(53)|p.S45C(19)|p.S45Y(17)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.S45_S47>C(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.S45fs*2(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACAGCTCCTTCTCTGAGTGGT	0.498000	S45F(HCC15_LUNG)|S45F(LS180_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				15	26					0	0	0.119110	0	0
PSG7	5676	broad.mit.edu	37	19	43439606	43439606	+	RNA	SNP	C	C	T	rs146684607	by1000genomes	TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:43439606C>T	ENST00000406070.2	-	0	476				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CCCATCACCTCGCTTTATGAT	0.493000													107	358					0	0	0.139131	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086817	144086817	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:144086817G>A	ENST00000427704.2	+	6	1211	c.1081G>A	c.(1081-1083)Gct>Act	p.A361T	PHACTR2_ENST00000367584.4_Missense_Mutation_p.A349T|PHACTR2_ENST00000305766.6_Missense_Mutation_p.A281T|PHACTR2_ENST00000367582.3_Missense_Mutation_p.A292T|PHACTR2_ENST00000440869.2_Missense_Mutation_p.A372T	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	361							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CAGCGTTGGAGCTGACCTGCC	0.567000													38	58					0	0	0.092188	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				22	37					0	0	0.099896	0	0
BTN2A1	11120	broad.mit.edu	37	6	26458872	26458872	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:26458872C>T	ENST00000429381.1	+	2	220	c.8C>T	c.(7-9)tCa>tTa	p.S3L	BTN2A1_ENST00000469185.1_Missense_Mutation_p.S3L|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000312541.5_Missense_Mutation_p.S3L			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	3					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTCATGGAATCAGCTGCTGCC	0.622000													4	84					0	0	0.021553	0	0
ERC2	26059	broad.mit.edu	37	3	56173549	56173549	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:56173549G>A	ENST00000288221.6	-	6	1716	c.1461C>T	c.(1459-1461)atC>atT	p.I487I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	487						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAGTCTGAAGGATGGCAGCCC	0.433000													14	30					0	0	0.033300	0	0
C8orf34	116328	broad.mit.edu	37	8	69358599	69358599	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr8:69358599G>A	ENST00000337103.4	+	2	1770	c.178G>A	c.(178-180)Gat>Aat	p.D60N	C8orf34_ENST00000518698.1_Missense_Mutation_p.D171N|C8orf34_ENST00000523686.1_Missense_Mutation_p.D85N|C8orf34_ENST00000539993.1_Missense_Mutation_p.D85N|C8orf34_ENST00000348340.2_Missense_Mutation_p.D85N|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	85					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGAAGCTATGATAAACCTTG	0.338000													49	34					0	0	0.139131	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													3	34					0	0	0.009096	0	0
RNF17	56163	broad.mit.edu	37	13	25349022	25349022	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr13:25349022G>A	ENST00000255324.5	+	3	349	c.297G>A	c.(295-297)atG>atA	p.M99I	RNF17_ENST00000255325.5_Missense_Mutation_p.M99I|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.M99I	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	99					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTCCATAATGGAAAAACTGC	0.323000													10	20					0	0	0.058154	0	0
DNAH1	25981	broad.mit.edu	37	3	52395225	52395225	+	Silent	SNP	T	T	C			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:52395225T>C	ENST00000420323.2	+	29	4992	c.4731T>C	c.(4729-4731)ggT>ggC	p.G1577G		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1577	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGTTTGGGGGTGCCCCAGCTG	0.617000													8	20					0	0	0.047766	0	0
GFRAL	389400	broad.mit.edu	37	6	55216215	55216215	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:55216215C>T	ENST00000340465.2	+	5	621	c.535C>T	c.(535-537)Cct>Tct	p.P179S		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	179						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCAAAATATACCTTTTAACAT	0.433000													42	94					0	0	0.124865	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473188	22473188	+	RNA	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:22473188G>A	ENST00000557788.2	-	0	82																											CACCAGTCCTGGGCCCGACTC	0.622000													30	109					0	0	0.045705	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442574	25442574	+	RNA	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:25442574G>A	ENST00000424208.1	+	0	1550				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						CTGGCCCCGGGAAAATGTCCC	0.602000													6	12					0	0	0.021553	0	0
DACT1	51339	broad.mit.edu	37	14	59113545	59113545	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr14:59113545A>G	ENST00000395153.3	+	4	2240	c.2093A>G	c.(2092-2094)cAc>cGc	p.H698R	DACT1_ENST00000541264.2_Missense_Mutation_p.H454R|DACT1_ENST00000556859.1_Missense_Mutation_p.H454R|DACT1_ENST00000395151.3_Missense_Mutation_p.H454R|DACT1_ENST00000335867.4_Missense_Mutation_p.H735R	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	735					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TCCCTGTTCCACTCCACCGTG	0.652000													30	76					0	0	0.050027	0	0
GZF1	64412	broad.mit.edu	37	20	23350250	23350250	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr20:23350250G>A	ENST00000338121.5	+	5	1734	c.1657G>A	c.(1657-1659)Ggc>Agc	p.G553S	GZF1_ENST00000542987.1_Missense_Mutation_p.G62S|GZF1_ENST00000377051.2_Missense_Mutation_p.G553S|GZF1_ENST00000544236.1_Missense_Mutation_p.G77S			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	553					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGACCAGTGCGGCAAGCAGTT	0.597000													59	121					0	0	0.139131	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70819826	70819826	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:70819826G>A	ENST00000370944.4	-	1	579	c.266C>T	c.(265-267)tCc>tTc	p.S89F	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S89F	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	89					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CGGGGACTGGGAGTTGGCAGT	0.672000													49	92					0	0	0.139131	0	0
ABCF1	23	broad.mit.edu	37	6	30552334	30552334	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:30552334C>T	ENST00000326195.8	+	14	1494	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.S423F	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	461	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						ATGCGTGTCTCCCTGGCCAGG	0.607000													26	48					0	0	0.045705	0	0
CALML5	51806	broad.mit.edu	37	10	5541195	5541195	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:5541195G>A	ENST00000380332.3	-	1	338	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	69	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CCGCCGTCAGGAACTCCTGGA	0.657000													18	37					0	0	0.043863	0	0
TCEA3	6920	broad.mit.edu	37	1	23743760	23743760	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:23743760C>T	ENST00000450454.2	-	4	468	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	TCEA3_ENST00000374601.3_Missense_Mutation_p.R121Q|TCEA3_ENST00000461794.1_Missense_Mutation_p.R84Q	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	121					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		GGGGTCTTCTCGTTTTTTCCT	0.443000													32	30					0	0	0.059317	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564501	66564501	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr18:66564501G>A	ENST00000360242.5	+	6	1216	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E367K|CCDC102B_ENST00000319445.6_Missense_Mutation_p.E367K|CCDC102B_ENST00000358653.5_Missense_Mutation_p.E367K	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	367										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GGACAAGAGGGAAATACTTGA	0.403000													32	67					0	0	0.064281	0	0
ARGFX	503582	broad.mit.edu	37	3	121305437	121305437	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:121305437G>A	ENST00000334384.3	+	4	948	c.938G>A	c.(937-939)gGa>gAa	p.G313E		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	313						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GTAGACTTGGGATTTCTCTGA	0.403000													19	42					0	0	0.055883	0	0
TFEC	22797	broad.mit.edu	37	7	115580888	115580888	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:115580888G>A	ENST00000265440.7	-	8	941	c.761C>T	c.(760-762)cCt>cTt	p.P254L	TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.P225L|TFEC_ENST00000457268.1_Missense_Mutation_p.P187L	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ATTCTGCTCAGGATGGCTCTG	0.493000													58	95					0	0	0.139131	0	0
OR51E2	81285	broad.mit.edu	37	11	4703846	4703846	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:4703846G>A	ENST00000396950.3	-	2	335	c.96C>T	c.(94-96)tcC>tcT	p.S32S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTACATACATGGAAAGGAGGG	0.498000													21	37					0	0	0.062417	0	0
CDH20	28316	broad.mit.edu	37	18	59174649	59174649	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr18:59174649C>T	ENST00000262717.4	+	6	1271	c.873C>T	c.(871-873)tcC>tcT	p.S291S	CDH20_ENST00000536675.2_Silent_p.S291S|CDH20_ENST00000538374.1_Silent_p.S291S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	291	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAATTAGCTCCACTGTCGGGA	0.428000													17	84					0	0	0.038395	0	0
FSTL5	56884	broad.mit.edu	37	4	162307342	162307342	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:162307342G>A	ENST00000306100.5	-	16	2537	c.2101C>T	c.(2101-2103)Cca>Tca	p.P701S	FSTL5_ENST00000427802.2_Missense_Mutation_p.P691S|FSTL5_ENST00000536695.1_Missense_Mutation_p.P700S|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.P700S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	701						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGGCCATCTGGAGAGACATAT	0.463000													19	50					0	0	0.043863	0	0
PLCB3	5331	broad.mit.edu	37	11	64026164	64026164	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:64026164C>T	ENST00000540288.1	+	11	1335	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	PLCB3_ENST00000325234.5_Missense_Mutation_p.S344F|PLCB3_ENST00000279230.6_Missense_Mutation_p.S411F	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	411	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GTCATCCTCTCCTTCGAGAAC	0.612000													34	48					0	0	0.064281	0	0
STRN	6801	broad.mit.edu	37	2	37111155	37111155	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:37111155G>A	ENST00000263918.4	-	9	1114	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L	STRN_ENST00000379213.2_Missense_Mutation_p.S320L	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	369					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGGCTGCAATGAAGGAAGTTC	0.433000													13	7					0	0	0.093190	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140866358	140866358	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:140866358C>T	ENST00000306593.1	+	1	1618	c.1618C>T	c.(1618-1620)Cgg>Tgg	p.R540W	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCGGGATCGGGGCAACCC	0.562000													51	89					0	0	0.139131	0	0
DSG2	1829	broad.mit.edu	37	18	29102174	29102174	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr18:29102174G>A	ENST00000261590.8	+	6	861	c.652G>A	c.(652-654)Gga>Aga	p.G218R	DSG2_ENST00000585206.1_Missense_Mutation_p.G218R	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	218	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TAAAGATACAGGAGAGATTTA	0.393000													19	32					0	0	0.055883	0	0
SRC	6714	broad.mit.edu	37	20	36022382	36022382	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr20:36022382C>T	ENST00000373578.2	+	6	784	c.435C>T	c.(433-435)tcC>tcT	p.S145S	SRC_ENST00000360723.4_Silent_p.S151S|SRC_ENST00000373567.2_Silent_p.S145S|SRC_ENST00000358208.4_Silent_p.S145S|SRC_ENST00000373558.2_Silent_p.S151S|SRC_ENST00000445403.1_Silent_p.S145S	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	145	SH3.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CCTCCGACTCCATCCAGGCTG	0.642000													6	14					0	0	0.038147	0	0
PCSK1	5122	broad.mit.edu	37	5	95757600	95757600	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:95757600G>A	ENST00000311106.3	-	5	841	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.P155S	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	202	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCGTTTGTGGGATCATATCGG	0.328000													30	99					0	0	0.059317	0	0
TCEA2	6919	broad.mit.edu	37	20	62700770	62700770	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr20:62700770C>T	ENST00000395053.3	+	5	541	c.386C>T	c.(385-387)cCt>cTt	p.P129L	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Missense_Mutation_p.P102L|TCEA2_ENST00000343484.5_Missense_Mutation_p.P129L			Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	129					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					ACCACATTTCCTCCGGTGCCT	0.672000													10	6					0	0	0.058154	0	0
FBLN5	10516	broad.mit.edu	37	14	92357594	92357594	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr14:92357594G>A	ENST00000267620.10	-	7	882	c.713C>T	c.(712-714)aCc>aTc	p.T238I	FBLN5_ENST00000556154.1_Missense_Mutation_p.T202I|FBLN5_ENST00000342058.4_Missense_Mutation_p.T197I			Q9UBX5	FBLN5_HUMAN	fibulin 5	197	EGF-like 4; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CTCATTGAGGGTAAAACCAGG	0.478000													19	31					0	0	0.043863	0	0
DNAH5	1767	broad.mit.edu	37	5	13809263	13809263	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:13809263C>T	ENST00000265104.4	-	46	7746	c.7642G>A	c.(7642-7644)Gaa>Aaa	p.E2548K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2548					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					TACAGGTATTCCTGGGTACGC	0.438000									Kartagener syndrome				51	85					0	0	0.139131	0	0
OSBPL7	114881	broad.mit.edu	37	17	45895675	45895675	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:45895675G>A	ENST00000007414.3	-	7	749	c.558C>T	c.(556-558)tcC>tcT	p.S186S	OSBPL7_ENST00000392507.3_Silent_p.S186S	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	186					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CCCTCAGCCAGGAAGACACTT	0.647000													32	63					0	0	0.074837	0	0
MAGED1	9500	broad.mit.edu	37	X	51639952	51639952	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:51639952C>T	ENST00000375695.2	+	5	1522	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	MAGED1_ENST00000375772.3_Missense_Mutation_p.P401S|MAGED1_ENST00000326587.7_Missense_Mutation_p.P401S|MAGED1_ENST00000375722.1_Missense_Mutation_p.P401S|MAGED1_ENST00000494718.1_3'UTR	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	401					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTGGCAAGGTCCTCCTGACTG	0.647000										Multiple Myeloma(10;0.10)			5	13					0	0	0.014758	0	0
FAM13C	220965	broad.mit.edu	37	10	61007471	61007471	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:61007471G>A	ENST00000373867.3	-	15	1874	c.1409C>T	c.(1408-1410)cCa>cTa	p.P470L	PHYHIPL_ENST00000373880.4_3'UTR|FAM13C_ENST00000468840.2_Missense_Mutation_p.P471L|FAM13C_ENST00000442566.3_Missense_Mutation_p.P575L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P574L|FAM13C_ENST00000419214.2_Missense_Mutation_p.P456L|PHYHIPL_ENST00000373878.3_3'UTR|FAM13C_ENST00000373868.2_Missense_Mutation_p.P554L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	554										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATCTGCCATTGGTATCCTATC	0.328000													32	18					0	0	0.045705	0	0
PLXDC2	84898	broad.mit.edu	37	10	20335859	20335859	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:20335859G>A	ENST00000377252.3	+	3	1227	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Intron	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	129						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						TCTGCCAGCCGGGATTTATGG	0.373000													32	66					0	0	0.045705	0	0
ZNF74	7625	broad.mit.edu	37	22	20759962	20759962	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr22:20759962C>T	ENST00000400451.2	+	5	1153	c.639C>T	c.(637-639)gcC>gcT	p.A213A	ZNF74_ENST00000356671.5_Silent_p.A213A|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Silent_p.A181A|ZNF74_ENST00000403682.3_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	213					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAACCAAGGCCCCCGCGAGAC	0.697000													13	16					0	0	0.105934	0	0
EPGN	255324	broad.mit.edu	37	4	75174855	75174855	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:75174855C>T	ENST00000413830.1	+	2	150	c.89C>T	c.(88-90)cCa>cTa	p.P30L	EPGN_ENST00000509145.1_Intron|EPGN_ENST00000503098.1_Missense_Mutation_p.P30L|EPGN_ENST00000502358.1_Missense_Mutation_p.P30L|EPGN_ENST00000332112.4_Missense_Mutation_p.P30L|EPGN_ENST00000505212.1_Missense_Mutation_p.P30L|EPGN_ENST00000514968.1_Missense_Mutation_p.P30L	NM_001270989.1	NP_001257918.1	Q6UW88	EPGN_HUMAN	epithelial mitogen	30					activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	extracellular region|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity			breast(3)|liver(1)|lung(1)|skin(1)	6			Lung(101;0.196)			GTAACACCTCCAATCACAGCC	0.428000													33	57					0	0	0.064281	0	0
ACTL9	284382	broad.mit.edu	37	19	8808458	8808458	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:8808458C>T	ENST00000324436.3	-	1	714	c.594G>A	c.(592-594)acG>acA	p.T198T		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	198						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCCGTGTCCCGTGTCCACCA	0.667000													15	26					0	0	0.033300	0	0
TK2	7084	broad.mit.edu	37	16	66570869	66570869	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:66570869G>A	ENST00000299697.7	-	4	633	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	TK2_ENST00000527800.1_5'UTR|TK2_ENST00000527284.1_Silent_p.L64L|TK2_ENST00000525974.1_5'UTR|TK2_ENST00000564917.1_Silent_p.L95L|TK2_ENST00000417693.3_Intron|TK2_ENST00000545043.2_Silent_p.L70L|TK2_ENST00000544898.1_Silent_p.L46L|TK2_ENST00000451102.2_Silent_p.L95L|TK2_ENST00000563369.2_5'UTR	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	95					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		CCACTCACCAGAGGATTGTGG	0.542000													36	71					0	0	0.098360	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566849	103566849	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr14:103566849G>A	ENST00000380069.3	+	1	369	c.293G>A	c.(292-294)gGc>gAc	p.G98D		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	98										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCAGCTACCGGCCATTCCCAG	0.632000													3	28					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179584144	179584144	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:179584144C>T	ENST00000589042.1	-	83	24197	c.23973G>A	c.(23971-23973)ctG>ctA	p.L7991L	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.L6747L|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.L7674L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7674	Ig-like 62.						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)			TCACGTCTTTCAGCTTGCGGA	0.517000													37	30					0	0	0.092188	0	0
PPT1	5538	broad.mit.edu	37	1	40539851	40539851	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:40539851C>T	ENST00000433473.3	-	9	1267	c.803G>A	c.(802-804)cGc>cAc	p.R268H	PPT1_ENST00000530076.1_Missense_Mutation_p.R49H|PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000449045.2_Missense_Mutation_p.R165H	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	268					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAGCCCCAGGCGGTCCTGCAG	0.403000													4	60					0	0	0.021553	0	0
TRIM9	114088	broad.mit.edu	37	14	51464813	51464813	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr14:51464813C>T	ENST00000298355.3	-	7	2679	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R	TRIM9_ENST00000360392.4_Missense_Mutation_p.G520R|TRIM9_ENST00000338969.5_Missense_Mutation_p.G516R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	520	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GGGCTGACTCCTGTTTTGTTG	0.537000													20	21					0	0	0.049695	0	0
CD1E	913	broad.mit.edu	37	1	158325195	158325195	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:158325195C>T	ENST00000444681.2	+	2	457	c.164C>T	c.(163-165)tCc>tTc	p.S55F	CD1E_ENST00000368167.3_Missense_Mutation_p.S154F|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.S154F|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.S152F|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.S154F|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.S154F	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	154					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CAAGGAATTTCCTGGGAGCCA	0.448000													33	57					0	0	0.054565	0	0
KSR1	8844	broad.mit.edu	37	17	25932546	25932546	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:25932546G>A	ENST00000398988.3	+	16	1801	c.1356G>A	c.(1354-1356)cgG>cgA	p.R452R	KSR1_ENST00000509603.2_Silent_p.R567R|KSR1_ENST00000268763.6_Silent_p.R452R|KSR1_ENST00000319524.6_Silent_p.R589R	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	587					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGCCCTGGCGGGGCCCCATCT	0.662000													7	3					0	0	0.029380	0	0
MT4	84560	broad.mit.edu	37	16	56601683	56601683	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:56601683G>A	ENST00000219162.3	+	2	132	c.52G>A	c.(52-54)Gac>Aac	p.D18N		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	18						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						CATGTGTGGAGACAACTGCAA	0.498000													27	57					0	0	0.050027	0	0
NLRP13	126204	broad.mit.edu	37	19	56413429	56413429	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:56413429G>A	ENST00000588751.1	-	9	2785	c.2761C>T	c.(2761-2763)Cgc>Tgc	p.R921C	NLRP13_ENST00000342929.3_Missense_Mutation_p.R921C			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	921							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCATCTGGGCGACCCAAGGCC	0.547000													19	110					0	0	0.055883	0	0
CDCA7L	55536	broad.mit.edu	37	7	21947944	21947944	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:21947944G>A	ENST00000406877.3	-	4	764	c.485C>T	c.(484-486)tCt>tTt	p.S162F	CDCA7L_ENST00000356195.5_Missense_Mutation_p.S128F|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.S116F	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	162					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTGCTCGGAAGAACTGTTTTT	0.418000													13	30					0	0	0.105934	0	0
NMRAL1	57407	broad.mit.edu	37	16	4511823	4511823	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:4511823G>A	ENST00000574733.1	-	6	1587	c.858C>T	c.(856-858)gaC>gaT	p.D286D	NMRAL1_ENST00000283429.6_Silent_p.D286D|NMRAL1_ENST00000574425.1_Silent_p.D286D|NMRAL1_ENST00000404295.3_Silent_p.D286D			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	286						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CCAGCCACTGGTCCAGCGTCA	0.647000													58	102					0	0	0.139131	0	0
CD5L	922	broad.mit.edu	37	1	157803140	157803140	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:157803140G>T	ENST00000368174.4	-	5	977	c.881C>A	c.(880-882)tCc>tAc	p.S294Y		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	294	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)			GTCTCTGAAGGAGGGAGAGAG	0.587000													32	64					8.4185e-14	8.81668e-14	0.050027	1	0
TSHZ2	128553	broad.mit.edu	37	20	51872096	51872096	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr20:51872096C>T	ENST00000371497.5	+	2	2986	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	TSHZ2_ENST00000603338.2_Missense_Mutation_p.S697F|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S697F	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	700					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCCCTGCAGTCCGTCCTGAAC	0.612000													16	31					0	0	0.146539	0	0
OR2L13	284521	broad.mit.edu	37	1	248262875	248262875	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:248262875C>T	ENST00000366478.2	+	3	535	c.198C>T	c.(196-198)tcC>tcT	p.S66S	OR2L13_ENST00000358120.2_Silent_p.S66S	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GCCAGCTCTCCCTTATGGACC	0.537000													47	102					0	0	0.139131	0	0
FBN3	84467	broad.mit.edu	37	19	8194032	8194032	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:8194032C>T	ENST00000600128.1	-	18	2590	c.2176G>A	c.(2176-2178)Gat>Aat	p.D726N	FBN3_ENST00000601739.1_Missense_Mutation_p.D726N|FBN3_ENST00000270509.2_Missense_Mutation_p.D726N			Q75N90	FBN3_HUMAN	fibrillin 3	726	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACACTCATCCACGTCTGTG	0.652000													45	85					0	0	0.139131	0	0
IST1	9798	broad.mit.edu	37	16	71950427	71950427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:71950427C>T	ENST00000378799.6	+	3	507	c.151C>T	c.(151-153)Cga>Tga	p.R51*	IST1_ENST00000329908.8_Nonsense_Mutation_p.R51*|IST1_ENST00000535424.1_Nonsense_Mutation_p.R64*|IST1_ENST00000606369.1_Intron|IST1_ENST00000378798.5_Nonsense_Mutation_p.R51*|IST1_ENST00000544564.1_Nonsense_Mutation_p.R51*|IST1_ENST00000541571.2_Nonsense_Mutation_p.R51*|IST1_ENST00000538850.1_Intron|IST1_ENST00000538565.1_Intron|RP11-498D10.4_ENST00000568581.1_Nonsense_Mutation_p.R51*	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	51	Interaction with CHMP1A and CHMP1B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding										GAAAGATGAACGAGCTCGGAT	0.547000													14	35					0	0	0.119110	0	0
OR51L1	119682	broad.mit.edu	37	11	5020909	5020909	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:5020909C>T	ENST00000321543.1	+	1	697	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATTGCATCTCGTGAAGAGCA	0.418000													21	37					0	0	0.049695	0	0
AKR1B1	231	broad.mit.edu	37	7	134136347	134136347	+	Silent	SNP	G	G	A	rs115549384	by1000genomes	TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:134136347G>A	ENST00000285930.4	-	2	304	c.225C>T	c.(223-225)atC>atT	p.I75I	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	75					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CCTTGCTGACGATGAAGAGCT	0.562000													26	64					0	0	0.134883	0	0
RMDN2	151393	broad.mit.edu	37	2	38224657	38224657	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:38224657G>A	ENST00000407257.1	+	8	1725	c.1578_splice	c.e8+1	p.K526_splice	RMDN2_ENST00000417700.2_Splice_Site_p.K203_splice|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Splice_Site_p.K348_splice|RMDN2_ENST00000354545.2_Splice_Site_p.K348_splice|RMDN2_ENST00000234195.3_Splice_Site_p.K526_splice					regulator of microtubule dynamics 2																		ATTTCCTTAAGGTACATTTTG	0.398000													21	11					0	0	0.049695	0	0
LRRTM2	26045	broad.mit.edu	37	5	138208984	138208984	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:138208984C>T	ENST00000274711.6	-	2	1644	c.1266G>A	c.(1264-1266)cgG>cgA	p.R422R	CTNNA1_ENST00000355078.5_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000518825.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	422						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCGTAATTACCCGCTGAGTGA	0.408000													44	84					0	0	0.139131	0	0
KATNAL1	84056	broad.mit.edu	37	13	30805462	30805462	+	Silent	SNP	A	A	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr13:30805462A>G	ENST00000380615.3	-	7	1041	c.874T>C	c.(874-876)Ttg>Ctg	p.L292L	KATNAL1_ENST00000380617.3_Silent_p.L292L	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	292						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		ATCTCAAACAACAGACGAACT	0.398000													27	48					0	0	0.108266	0	0
NCAN	1463	broad.mit.edu	37	19	19337555	19337555	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:19337555G>A	ENST00000252575.5	+	7	1376	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	445					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCCCACTGGGGAAGTGTGGCT	0.617000													14	14					0	0	0.132662	0	0
OTOGL	283310	broad.mit.edu	37	12	80732982	80732982	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:80732982G>A	ENST00000458043.2	+	42	4967	c.4961G>A	c.(4960-4962)gGa>gAa	p.G1654E	OTOGL_ENST00000547103.1_Missense_Mutation_p.G1642E	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATCTTACAGGAATCATAGAC	0.408000													72	142					0	0	0.139131	0	0
FREM1	158326	broad.mit.edu	37	9	14812992	14812992	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:14812992C>T	ENST00000380881.4	-	17	3529	c.2714G>A	c.(2713-2715)gGa>gAa	p.G905E	FREM1_ENST00000380880.3_Missense_Mutation_p.G904E|FREM1_ENST00000422223.2_Missense_Mutation_p.G904E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	904					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)		CACCTCTCCTCCCTCTGAGCA	0.463000													54	38					0	0	0.139131	0	0
FAM86EP	348926	broad.mit.edu	37	4	3945031	3945031	+	RNA	SNP	A	A	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:3945031A>G	ENST00000313946.8	-	0	1300																											GCCATCTCCAAGTGCTCTTTG	0.483000													18	59					0	0	0.049695	0	0
FBN3	84467	broad.mit.edu	37	19	8190879	8190879	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:8190879G>A	ENST00000600128.1	-	22	3042	c.2628C>T	c.(2626-2628)ttC>ttT	p.F876F	FBN3_ENST00000601739.1_Silent_p.F876F|FBN3_ENST00000270509.2_Silent_p.F876F			Q75N90	FBN3_HUMAN	fibrillin 3	876	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGACTCCCGGGAAGGACTCAC	0.637000													19	41					0	0	0.055883	0	0
SHANK1	50944	broad.mit.edu	37	19	51201136	51201136	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:51201136C>T	ENST00000293441.1	-	12	1843	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	SHANK1_ENST00000359082.3_Missense_Mutation_p.E609K|SHANK1_ENST00000391814.1_Missense_Mutation_p.E609K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	609	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCACTTCTTCCAGGCAGTCA	0.567000													12	23					0	0	0.119110	0	0
GRM7	2917	broad.mit.edu	37	3	7620138	7620138	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:7620138C>T	ENST00000486284.1	+	8	1819	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	GRM7_ENST00000389336.4_Silent_p.V515V|GRM7_ENST00000402647.2_Silent_p.V515V|GRM7_ENST00000403881.1_Silent_p.V515V|GRM7_ENST00000357716.4_Silent_p.V515V|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	515					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTAAAGGAGTCCGAGAGATAC	0.463000													16	21					0	0	0.146539	0	0
MUC16	94025	broad.mit.edu	37	19	9019291	9019291	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:9019291G>A	ENST00000397910.4	-	23	37799	c.37596C>T	c.(37594-37596)tcC>tcT	p.S12532S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12534					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTTGGGAGGGAGAATGGAG	0.458000													6	20					0	0	0.038147	0	0
SUPT3H	8464	broad.mit.edu	37	6	44900436	44900436	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:44900436G>A	ENST00000371460.1	-	12	1216	c.899C>T	c.(898-900)gCc>gTc	p.A300V	SUPT3H_ENST00000371461.2_Missense_Mutation_p.A300V|SUPT3H_ENST00000306867.5_Missense_Mutation_p.A289V|SUPT3H_ENST00000371459.1_Missense_Mutation_p.A289V|SUPT3H_ENST00000371458.1_Missense_Mutation_p.A72V	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	371					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GCGTCGAATGGCCTCTCTGAT	0.428000													10	23					0	0	0.105934	0	0
CPNE4	131034	broad.mit.edu	37	3	131306334	131306334	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:131306334C>T	ENST00000512055.1	-	12	2900	c.774G>A	c.(772-774)ggG>ggA	p.G258G	CPNE4_ENST00000512332.1_Silent_p.G276G|CPNE4_ENST00000429747.1_Silent_p.G258G|CPNE4_ENST00000511604.1_Silent_p.G258G|CPNE4_ENST00000502818.1_Silent_p.G276G			Q96A23	CPNE4_HUMAN	copine IV	258										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GTACCTGTTTCCCTTCCATTG	0.453000													16	42					0	0	0.043863	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671784	176671784	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:176671784C>T	ENST00000367662.3	+	9	4442	c.3278C>T	c.(3277-3279)gCt>gTt	p.A1093V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1093					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAAGTTCTAGCTGAAGCTGGA	0.507000													21	44					0	0	0.062417	0	0
ALPP	250	broad.mit.edu	37	2	233244902	233244902	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:233244902C>T	ENST00000392027.2	+	6	933	c.664C>T	c.(664-666)Cta>Tta	p.L222L	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	222						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCAGGTGATCCTAGGTGGAGG	0.622000													28	30					0	0	0.045705	0	0
IPO5	3843	broad.mit.edu	37	13	98666328	98666328	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr13:98666328C>T	ENST00000261574.5	+	22	2419	c.2239C>T	c.(2239-2241)Ctt>Ttt	p.L747F	IPO5_ENST00000490680.1_Missense_Mutation_p.L729F|IPO5_ENST00000539640.1_Missense_Mutation_p.L604F	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	729					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATCCATGCCTCTTCTCCTGGA	0.433000													43	76					0	0	0.131918	0	0
ZMYM3	9203	broad.mit.edu	37	X	70468049	70468049	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:70468049G>A	ENST00000373998.1	-	11	2635	c.1938C>T	c.(1936-1938)ctC>ctT	p.L646L	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Silent_p.L646L|ZMYM3_ENST00000373988.1_Silent_p.L648L|ZMYM3_ENST00000353904.2_Silent_p.L646L|ZMYM3_ENST00000373984.3_Silent_p.L648L	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	646					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CGCTGAATCGGAGTTTCTCAT	0.547000													6	20					0	0	0.029380	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68956357	68956357	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:68956357C>T	ENST00000356291.2	-	3	225	c.166G>A	c.(166-168)Gat>Aat	p.D56N		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	56	SEA.				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						AAAGACTTATCATCTGAAAGG	0.333000													21	37					0	0	0.083992	0	0
BTRC	8945	broad.mit.edu	37	10	103310575	103310575	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:103310575C>T	ENST00000370187.3	+	14	1894	c.1776C>T	c.(1774-1776)ccC>ccT	p.P592P	BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Silent_p.P556P|BTRC_ENST00000393441.4_Silent_p.P551P	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	592			P -> H (in dbSNP:rs2270439).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AAGCTGAACCCCCCCGTTCCC	0.438000													21	23					0	0	0.076483	0	0
CHSY1	22856	broad.mit.edu	37	15	101718622	101718622	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:101718622C>T	ENST00000254190.3	-	3	1855	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	460					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCATTTTCTTCCCTTTGTGCT	0.507000													14	28					0	0	0.105934	0	0
DAPK2	23604	broad.mit.edu	37	15	64275881	64275881	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:64275881C>T	ENST00000261891.3	-	2	170	c.165G>A	c.(163-165)aaG>aaA	p.K55K	DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000457488.1_Silent_p.K55K|DAPK2_ENST00000558069.1_Silent_p.K55K			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	55	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCTGCCGCTTCTTGATGAACT	0.617000													11	27					0	0	0.119110	0	0
RGS7	6000	broad.mit.edu	37	1	240964804	240964804	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:240964804C>T	ENST00000366565.1	-	17	1745	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	RGS7_ENST00000407727.1_Missense_Mutation_p.G455E|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000331110.7_Intron	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	455					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CATTGAGTTTCCAGACTTACG	0.328000													3	17					0	0	0.009096	0	0
GPR50	9248	broad.mit.edu	37	X	150349595	150349595	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:150349595G>T	ENST00000218316.3	+	2	1609	c.1540G>T	c.(1540-1542)Gag>Tag	p.E514*		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	514	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)					CAGCCATGCTGAGCCCACCAC	0.607000													28	103					7.76418e-22	8.15897e-22	0.108266	1	0
SLX4IP	128710	broad.mit.edu	37	20	10603436	10603436	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr20:10603436C>T	ENST00000334534.5	+	8	816	c.636C>T	c.(634-636)tcC>tcT	p.S212S		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		AGGCTTCCTCCAGTCCCCCAT	0.488000													14	49					0	0	0.119110	0	0
COL4A5	1287	broad.mit.edu	37	X	107925060	107925060	+	Silent	SNP	C	C	T	rs104886404		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:107925060C>T	ENST00000328300.6	+	47	4402	c.4158C>T	c.(4156-4158)atC>atT	p.I1386I	COL4A5_ENST00000361603.2_Silent_p.I1380I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1380	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTCCAGGAATCCCTGGCCAGC	0.453000									Alport syndrome with Diffuse Leiomyomatosis				29	43					0	0	0.125774	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274114	10274114	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:10274114C>T	ENST00000396573.2	-	3	464	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	GRIN2A_ENST00000404927.2_Missense_Mutation_p.R52Q|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R52Q|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R52Q|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R52Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	52					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACAGTGTTCGAAGTTCGCG	0.682000													36	82					0	0	0.104719	0	0
TNXB	7148	broad.mit.edu	37	6	32038156	32038156	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:32038156G>A	ENST00000375244.3	-	14	5227	c.5026C>T	c.(5026-5028)Cgc>Tgc	p.R1676C	TNXB_ENST00000375247.2_Missense_Mutation_p.R1676C			P22105	TENX_HUMAN	tenascin XB	1758	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCCCAAGGCGGGGTGGGGCC	0.597000													80	127					0	0	0.139131	0	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727171	25727171	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:25727171C>T	ENST00000274764.2	+	1	35	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	12					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						GCTACCATTTCCAAGAAGGGC	0.453000													22	54					0	0	0.091800	0	0
ZNF423	23090	broad.mit.edu	37	16	49669843	49669843	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:49669843G>A	ENST00000561648.1	-	4	3273	c.3220C>T	c.(3220-3222)Cgc>Tgc	p.R1074C	ZNF423_ENST00000562871.1_Missense_Mutation_p.R1014C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R957C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1014C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R957C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R1014C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1074C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1074					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGCTTGCTGCGGAACTCCTTG	0.662000													8	17					0	0	0.047766	0	0
COL1A1	1277	broad.mit.edu	37	17	48267704	48267704	+	Missense_Mutation	SNP	C	C	T	rs74315133		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:48267704C>T	ENST00000225964.5	-	35	2553	c.2435G>A	c.(2434-2436)gGc>gAc	p.G812D		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	812	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCCAGCAAAGCCAGCAGGGCC	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						23	37					0	0	0.099896	0	0
MINPP1	9562	broad.mit.edu	37	10	89264929	89264929	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:89264929T>G	ENST00000371996.4	+	1	298	c.257T>G	c.(256-258)cTc>cGc	p.L86R	MINPP1_ENST00000371994.4_Missense_Mutation_p.L86R	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	86					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CTGGTCGCCCTCATTCGCCAC	0.692000											OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	8					0	0	0.038147	0	0
CSMD2	114784	broad.mit.edu	37	1	34006741	34006741	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:34006741G>A	ENST00000373381.4	-	59	9622	c.9446C>T	c.(9445-9447)cCc>cTc	p.P3149L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3121	Sushi 25.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTGCAGACGGGCTTGGTTCC	0.498000													38	37					0	0	0.124865	0	0
GPR20	2843	broad.mit.edu	37	8	142367672	142367672	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr8:142367672C>T	ENST00000377741.3	-	2	442	c.352G>A	c.(352-354)Ggc>Agc	p.G118S		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	118						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGCAGGCAGCCCCTGGCGCCG	0.612000													22	41					0	0	0.076483	0	0
GK2	2712	broad.mit.edu	37	4	80328580	80328580	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:80328580C>T	ENST00000358842.3	-	1	792	c.775G>A	c.(775-777)Gac>Aac	p.D259N		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	259					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GCACATTGGTCCCCCAAACAC	0.458000													37	80					0	0	0.117977	0	0
ZNF681	148213	broad.mit.edu	37	19	23937634	23937634	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:23937634C>T	ENST00000402377.3	-	3	358	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ZNF681_ENST00000395385.3_Missense_Mutation_p.E4K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCTGGGGGTTCGGCCACCATC	0.418000													24	32					0	0	0.091800	0	0
STXBP3	6814	broad.mit.edu	37	1	109338903	109338903	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:109338903C>T	ENST00000370008.3	+	14	1208	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	386					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TGAAAGATTCCATGCGAGTAC	0.328000													10	33					0	0	0.069234	0	0
LIFR	3977	broad.mit.edu	37	5	38482701	38482701	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:38482701C>T	ENST00000263409.4	-	19	2822	c.2660G>A	c.(2659-2661)aGt>aAt	p.S887N	LIFR_ENST00000453190.2_Missense_Mutation_p.S887N	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	887					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTCACAGACACTCTTTTGAAA	0.259000			T	PLAG1	salivary adenoma								13	38					0	0	0.146539	0	0
MECP2	4204	broad.mit.edu	37	X	153296630	153296630	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:153296630G>A	ENST00000303391.6	-	4	898	c.649C>T	c.(649-651)Cct>Tct	p.P217S	MECP2_ENST00000407218.1_3'UTR|MECP2_ENST00000453960.2_Missense_Mutation_p.P229S	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	217					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTTCCCAGGACTTTTCTCC	0.617000													103	174					0	0	0.139131	0	0
CHST10	9486	broad.mit.edu	37	2	101019034	101019034	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:101019034C>G	ENST00000264249.3	-	4	569	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	CHST10_ENST00000542617.1_Missense_Mutation_p.E110Q|CHST10_ENST00000409701.1_Missense_Mutation_p.E62Q	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	62					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ACCTTCAGTTCCTCAGGAATG	0.572000													35	22					0	0	0.080422	0	0
CHM	1121	broad.mit.edu	37	X	85119751	85119751	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:85119751G>A	ENST00000357749.2	-	15	1875	c.1846C>T	c.(1846-1848)Ctt>Ttt	p.L616F	CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.L468F	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	616					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCTCCATCAAGGATAATGTCT	0.453000													7	12					0	0	0.038147	0	0
ATP7B	540	broad.mit.edu	37	13	52549113	52549113	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr13:52549113G>A	ENST00000242839.4	-	2	399	c.243C>T	c.(241-243)tcC>tcT	p.S81S	ATP7B_ENST00000400370.3_Silent_p.S81S|ATP7B_ENST00000418097.2_Silent_p.S81S|ATP7B_ENST00000542656.1_Silent_p.S49S|ATP7B_ENST00000448424.2_Silent_p.S81S|ATP7B_ENST00000344297.5_Silent_p.S81S|ATP7B_ENST00000400366.3_Silent_p.S81S	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	81	HMA 1.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTTTCAAATTGGAAATCCTGT	0.517000									Wilson disease				34	58					0	0	0.054565	0	0
GRIN2A	2903	broad.mit.edu	37	16	9862775	9862775	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:9862775C>T	ENST00000396573.2	-	13	2837	c.2528G>A	c.(2527-2529)tGg>tAg	p.W843*	GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.W843*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.W686*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.W843*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.W843*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.W843*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	843					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCGCAGCTTCCAGTAGAAGAG	0.582000													26	50					0	0	0.099896	0	0
CTNND2	1501	broad.mit.edu	37	5	11565169	11565169	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:11565169C>T	ENST00000304623.8	-	3	364		c.e3-1		CTNND2_ENST00000458100.2_Splice_Site|CTNND2_ENST00000359640.2_Splice_Site|CTNND2_ENST00000511377.1_Splice_Site|CTNND2_ENST00000503622.1_Splice_Site	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTGTAATTCCTGAAAGAAAC	0.473000													10	21					0	0	0.069234	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249418	123249418	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:123249418G>C	ENST00000264501.4	+	66	11528	c.11155G>C	c.(11155-11157)Gat>Cat	p.D3719H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3719H			Q2LD37	K1109_HUMAN	KIAA1109	3719					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGGCCGACGGGATGACAGTTT	0.438000													31	51					0	0	0.059317	0	0
VPS41	27072	broad.mit.edu	37	7	38813801	38813801	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:38813801G>A	ENST00000310301.4	-	12	980	c.926C>T	c.(925-927)cCa>cTa	p.P309L	VPS41_ENST00000395969.2_Missense_Mutation_p.P284L|VPS41_ENST00000466017.1_5'UTR	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	309					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTCAGAAAGTGGCTGGATGAT	0.378000													79	121					0	0	0.139131	0	0
IGHA1	3493	broad.mit.edu	37	14	106173831	106173831	+	RNA	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr14:106173831C>T	ENST00000390547.2	-	0	735																											GTCAGCGTCACCAGCTCGTTC	0.672000													4	54					0	0	0.014758	0	0
PRDM9	56979	broad.mit.edu	37	5	23526840	23526840	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:23526840G>A	ENST00000296682.3	+	11	1825	c.1643G>A	c.(1642-1644)gGg>gAg	p.G548E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	548					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACATACAGGGGAGAAGCTC	0.488000										HNSCC(3;0.000094)			35	64					0	0	0.069456	0	0
COL15A1	1306	broad.mit.edu	37	9	101817395	101817395	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:101817395G>A	ENST00000375001.3	+	33	3466	c.3043G>A	c.(3043-3045)Gat>Aat	p.D1015N		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1015	Nonhelical region 7 (NC7).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCTCCACTTGATCTAGCTTA	0.353000													60	38					0	0	0.139131	0	0
OR4C15	81309	broad.mit.edu	37	11	55321908	55321908	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:55321908G>A	ENST00000314644.2	+	1	126	c.126G>A	c.(124-126)atG>atA	p.M42I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GACTATACATGATCCCTGTTG	0.373000										HNSCC(20;0.049)			45	74					0	0	0.139131	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	46					0	0	0.014758	0	0
EHMT1	79813	broad.mit.edu	37	9	140638524	140638524	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:140638524G>A	ENST00000460843.1	+	6	1179	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	EHMT1_ENST00000334856.6_Silent_p.E353E|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.E384E	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	384					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCATGTCGGAGGCTGATCGCG	0.572000													21	14					0	0	0.055883	0	0
OR8D4	338662	broad.mit.edu	37	11	123777609	123777609	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:123777609G>A	ENST00000321355.2	+	1	501	c.471G>A	c.(469-471)gtG>gtA	p.V157V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTGATGCTGTGATCCATGGAG	0.468000													61	89					0	0	0.139131	0	0
TJP3	27134	broad.mit.edu	37	19	3736223	3736223	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:3736223G>A	ENST00000541714.2	+	11	1650	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	TJP3_ENST00000589378.1_Silent_p.L405L|TJP3_ENST00000382008.3_Silent_p.L410L|TJP3_ENST00000587686.1_Silent_p.L415L|TJP3_ENST00000539908.2_Silent_p.L360L|TJP3_ENST00000262968.9_Silent_p.L429L	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	410	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGCGGCTGGCAGGGGGCA	0.677000													29	33					0	0	0.134883	0	0
FIP1L1	81608	broad.mit.edu	37	4	54294256	54294256	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:54294256C>T	ENST00000337488.6	+	13	1274	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000507922.1_Silent_p.F345F|FIP1L1_ENST00000306932.6_Silent_p.F286F|FIP1L1_ENST00000358575.5_Silent_p.F345F	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	360	Pro-rich.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTCCGTTTTTCCCTCCAGGAG	0.463000			T	PDGFRA	idiopathic hypereosinophilic syndrome								6	17					0	0	0.021553	0	0
LRRC25	126364	broad.mit.edu	37	19	18502870	18502870	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:18502870G>A	ENST00000339007.3	-	2	1498	c.845C>T	c.(844-846)cCt>cTt	p.P282L	LRRC25_ENST00000595840.1_Missense_Mutation_p.P282L	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	282						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						ACAGTAGACAGGCTGGGAAGC	0.562000													28	43					0	0	0.125774	0	0
MUC16	94025	broad.mit.edu	37	19	9070674	9070674	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:9070674C>T	ENST00000397910.4	-	3	16975	c.16772G>A	c.(16771-16773)gGa>gAa	p.G5591E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5593	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGAGTCCCTCCCTGGAAAAG	0.512000													62	78					0	0	0.139131	0	0
NRK	203447	broad.mit.edu	37	X	105189981	105189981	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:105189981G>A	ENST00000428173.2	+	25	4483	c.4180G>A	c.(4180-4182)Gag>Aag	p.E1394K	NRK_ENST00000243300.9_Missense_Mutation_p.E1393K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1393	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GAGACCAGATGAGCTCCTTCA	0.443000										HNSCC(51;0.14)			14	19					0	0	0.119110	0	0
ALOXE3	59344	broad.mit.edu	37	17	8012520	8012520	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:8012520C>T	ENST00000380149.1	-	11	2032	c.2002G>A	c.(2002-2004)Ggc>Agc	p.G668S	ALOXE3_ENST00000318227.3_Missense_Mutation_p.G644S|ALOXE3_ENST00000448843.2_Missense_Mutation_p.G512S			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	512	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						ATCTTCAGGCCGTCGTCTCGG	0.667000													22	31					0	0	0.069288	0	0
MROH2B	133558	broad.mit.edu	37	5	41000789	41000789	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:41000789C>A	ENST00000399564.4	-	38	4791	c.4341G>T	c.(4339-4341)aaG>aaT	p.K1447N	MROH2B_ENST00000506092.2_Missense_Mutation_p.K1002N	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CAACTCCAATCTTGGGGTTGG	0.488000													9	13					1.12685e-05	1.14909e-05	0.047766	1	0
MUC6	4588	broad.mit.edu	37	11	1018448	1018448	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:1018448G>A	ENST00000421673.2	-	31	4403	c.4353C>T	c.(4351-4353)tcC>tcT	p.S1451S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1451	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAAGGAGGTGGAGAAAGGTG	0.552000													12	395					0	0	0.105934	0	0
NLRP13	126204	broad.mit.edu	37	19	56424336	56424336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:56424336C>A	ENST00000588751.1	-	5	871	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	NLRP13_ENST00000342929.3_Nonsense_Mutation_p.E283*			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	283	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAAATCAATTCAGCAAAGGTA	0.413000													18	104					2.48551e-13	2.58559e-13	0.033300	1	0
PTPRB	5787	broad.mit.edu	37	12	70954554	70954554	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:70954554C>T	ENST00000334414.6	-	17	4373	c.4329G>A	c.(4327-4329)acG>acA	p.T1443T	PTPRB_ENST00000551525.1_Silent_p.T1442T|PTPRB_ENST00000261266.5_Silent_p.T1225T|PTPRB_ENST00000550358.1_Silent_p.T1355T|PTPRB_ENST00000538708.1_Silent_p.T1135T|PTPRB_ENST00000550857.1_Silent_p.T1135T|PTPRB_ENST00000451516.2_Silent_p.T1135T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1225	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCGCCACTCCGTCAGGTCCT	0.488000													11	30					0	0	0.093190	0	0
ALDH3A1	218	broad.mit.edu	37	17	19648353	19648353	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:19648353C>T	ENST00000457500.2	-	1	419	c.90G>A	c.(88-90)ctG>ctA	p.L30L	ALDH3A1_ENST00000444455.1_Silent_p.L30L|ALDH3A1_ENST00000395555.3_Silent_p.L30L|ALDH3A1_ENST00000494157.2_Intron|ALDH3A1_ENST00000225740.6_Silent_p.L30L|ALDH3A1_ENST00000485231.1_Intron	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	30					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)	GCAGCGCCTCCAGCTGCTGGA	0.716000													7	14					0	0	0.047766	0	0
KMT2D	8085	broad.mit.edu	37	12	49427580	49427580	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:49427580G>A	ENST00000301067.7	-	39	10907	c.10908C>T	c.(10906-10908)ctC>ctT	p.L3636L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CATGGCCAGGGAGCAGCTGAC	0.662000													6	16					0	0	0.029380	0	0
NWD1	284434	broad.mit.edu	37	19	16902356	16902356	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:16902356G>A	ENST00000524140.2	+	14	3554	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	NWD1_ENST00000339803.6_Missense_Mutation_p.E911K|NWD1_ENST00000379808.3_Missense_Mutation_p.E1046K|NWD1_ENST00000549814.1_Missense_Mutation_p.E1046K|NWD1_ENST00000523826.1_Missense_Mutation_p.E840K|NWD1_ENST00000552788.1_Missense_Mutation_p.E1046K	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1046							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATCAAAGAAGAAACACCTAC	0.502000													32	44					0	0	0.054565	0	0
SYNM	23336	broad.mit.edu	37	15	99669736	99669736	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:99669736G>A	ENST00000336292.6	+	5	1288	c.1168G>A	c.(1168-1170)Gga>Aga	p.G390R	SYNM_ENST00000328642.7_Missense_Mutation_p.G390R|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.G105R	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	391	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CACATCTATTGGAGGTGATGC	0.507000													84	153					0	0	0.139131	0	0
SMARCA4	6597	broad.mit.edu	37	19	11145739	11145739	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:11145739C>T	ENST00000358026.2	+	29	4385	c.4101C>T	c.(4099-4101)ttC>ttT	p.F1367F	SMARCA4_ENST00000444061.3_Silent_p.F1334F|SMARCA4_ENST00000590574.1_Silent_p.F1334F|SMARCA4_ENST00000344626.4_Silent_p.F1367F|SMARCA4_ENST00000413806.3_Silent_p.F1334F|SMARCA4_ENST00000589677.1_Silent_p.F1334F|SMARCA4_ENST00000429416.3_Silent_p.F1367F|SMARCA4_ENST00000541122.2_Silent_p.F1334F|SMARCA4_ENST00000450717.3_Silent_p.F1334F	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1367					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGAAGATGTTCGGCCGTGGCT	0.647000			"""F, N, Mis"""		NSCLC								6	16					0	0	0.038147	0	0
ZNF613	79898	broad.mit.edu	37	19	52447376	52447376	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:52447376C>T	ENST00000293471.6	+	6	919	c.240C>T	c.(238-240)atC>atT	p.I80I	ZNF613_ENST00000391794.4_Silent_p.I44I	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I80M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCCTAGAAATCAAGAAAGTTG	0.368000													4	10					0	0	0.009096	0	0
TRMT10A	93587	broad.mit.edu	37	4	100478546	100478546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:100478546G>A	ENST00000273962.3	-	4	688	c.376C>T	c.(376-378)Caa>Taa	p.Q126*	TRMT10A_ENST00000394876.2_Nonsense_Mutation_p.Q126*|TRMT10A_ENST00000394877.3_Nonsense_Mutation_p.Q126*	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)																		TAACATCGTTGAATCTGCTTA	0.353000													17	39					0	0	0.043863	0	0
PCGF2	7703	broad.mit.edu	37	17	36894641	36894641	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:36894641G>A	ENST00000580830.1	-	10	1242	c.541C>T	c.(541-543)Ctc>Ttc	p.L181F	PCGF2_ENST00000585100.1_Missense_Mutation_p.S182F|PCGF2_ENST00000581345.1_Missense_Mutation_p.L181F|PCGF2_ENST00000579882.1_Missense_Mutation_p.S182F|PCGF2_ENST00000360797.2_Missense_Mutation_p.L181F|PCGF2_ENST00000578109.1_Missense_Mutation_p.S128F			P35227	PCGF2_HUMAN	polycomb group ring finger 2	181					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TTGTTGCGGAGAAACTTGGCA	0.572000													13	31					0	0	0.132662	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715029	92715029	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:92715029G>A	ENST00000257068.2	+	2	646	c.640G>A	c.(640-642)Gct>Act	p.A214T		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	214					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCTCCCTATCGCTGTCGTGTC	0.612000													111	133					0	0	0.139131	0	0
TTC21A	199223	broad.mit.edu	37	3	39151626	39151626	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:39151626C>T	ENST00000301819.6	+	3	441	c.264C>T	c.(262-264)atC>atT	p.I88I	TTC21A_ENST00000431162.2_Silent_p.I88I|TTC21A_ENST00000440121.1_Silent_p.I88I	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	88							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GATGTGAAATCATTGGTGAGT	0.557000													19	30					0	0	0.043863	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559405	44559405	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr18:44559405C>T	ENST00000332567.4	-	1	2583	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	744					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTTGTAGTCTCGAATTGCCTT	0.557000													51	106					0	0	0.139131	0	0
ASTL	431705	broad.mit.edu	37	2	96789678	96789678	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:96789678C>T	ENST00000342380.2	-	9	1206	c.1207G>A	c.(1207-1209)Gga>Aga	p.G403R		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	403					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGCTGGATTCCTGCTTCTGAA	0.592000													28	31					0	0	0.116897	0	0
FARP1	10160	broad.mit.edu	37	13	99092480	99092480	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr13:99092480C>T	ENST00000376586.2	+	24	3049	c.2713C>T	c.(2713-2715)Cct>Tct	p.P905S	FARP1_ENST00000595437.1_Missense_Mutation_p.P905S|FARP1_ENST00000319562.6_Missense_Mutation_p.P874S			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	874					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CAGCAGCCCCCCTGACAACAG	0.612000													45	61					0	0	0.104719	0	0
WFDC6	140870	broad.mit.edu	37	20	44163078	44163078	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr20:44163078G>A	ENST00000600168.1	-	4	549	c.462C>T	c.(460-462)ggC>ggT	p.G154G	WFDC6_ENST00000372670.3_3'UTR					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				GTGGAGAGAGGCCTGGATTAT	0.478000													34	69					0	0	0.069456	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681966	69681966	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:69681966C>T	ENST00000265403.7	+	1	256	c.229C>T	c.(229-231)Cct>Tct	p.P77S	UGT2B10_ENST00000458688.2_Missense_Mutation_p.P77S	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	77					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAAGTTTATCCTACATCTTT	0.348000													32	59					0	0	0.144211	0	0
NFASC	23114	broad.mit.edu	37	1	204985617	204985617	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:204985617G>A	ENST00000367172.4	+	32	4322	c.3994G>A	c.(3994-3996)Gaa>Aaa	p.E1332K	NFASC_ENST00000404907.1_Missense_Mutation_p.E1159K|NFASC_ENST00000367170.4_Missense_Mutation_p.E1253K|NFASC_ENST00000404076.1_Missense_Mutation_p.E1142K|NFASC_ENST00000539706.1_Missense_Mutation_p.E1159K|NFASC_ENST00000338515.6_Missense_Mutation_p.E1242K|NFASC_ENST00000338586.6_Missense_Mutation_p.E1209K|NFASC_ENST00000401399.1_Missense_Mutation_p.E1225K|NFASC_ENST00000367171.4_Missense_Mutation_p.E1317K|NFASC_ENST00000339876.6_Missense_Mutation_p.E1225K|NFASC_ENST00000367169.4_Missense_Mutation_p.E1056K|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000360049.4_Missense_Mutation_p.E1154K|NFASC_ENST00000513543.1_Missense_Mutation_p.E1154K			O94856	NFASC_HUMAN	neurofascin	1332					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAGGGCAACGAAAGCTCAGA	0.572000													18	46					0	0	0.038395	0	0
MEFV	4210	broad.mit.edu	37	16	3299632	3299632	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:3299632G>A	ENST00000219596.1	-	3	1098	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	MEFV_ENST00000536379.1_Silent_p.P142P|MEFV_ENST00000541159.1_Silent_p.P142P|MEFV_ENST00000339854.4_Silent_p.P173P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	353					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCTGGCACCGGGGGCAGCCAG	0.647000													11	29					0	0	0.069234	0	0
TBCEL	219899	broad.mit.edu	37	11	120957608	120957608	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:120957608C>T	ENST00000422003.2	+	8	1266	c.1078C>T	c.(1078-1080)Cgt>Tgt	p.R360C	TBCEL_ENST00000529397.1_Missense_Mutation_p.R360C	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	360	Ubiquitin-like.					cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AATGAGCATTCGTCTGGACCA	0.433000													9	19					0	0	0.058154	0	0
CELSR3	1951	broad.mit.edu	37	3	48677265	48677265	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:48677265G>A	ENST00000544264.1	-	35	10048	c.9768C>T	c.(9766-9768)gcC>gcT	p.A3256A	CELSR3_ENST00000164024.4_Silent_p.A3251A			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3251					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGTTGAAAGAGGCAAGGATGG	0.607000													44	97					0	0	0.098360	0	0
FOXN2	3344	broad.mit.edu	37	2	48602501	48602501	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:48602501C>T	ENST00000340553.3	+	7	1476	c.1215C>T	c.(1213-1215)ctC>ctT	p.L405L		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	405					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GATCTCTGCTCCACCTTGCTG	0.403000													10	6					0	0	0.069234	0	0
OR4A15	81328	broad.mit.edu	37	11	55136340	55136340	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:55136340G>A	ENST00000314706.3	+	1	981	c.981G>A	c.(979-981)agG>agA	p.R327R		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GTGCCATGAGGAAACTTTGGA	0.373000													39	56					0	0	0.080422	0	0
SLC25A31	83447	broad.mit.edu	37	4	128694625	128694625	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:128694625C>T	ENST00000281154.4	+	6	1012	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	282					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TTCCTTTTTTCGTGGCGCCTT	0.383000													22	23					0	0	0.069288	0	0
AOAH	313	broad.mit.edu	37	7	36698799	36698799	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:36698799G>A	ENST00000431169.1	-	4	662	c.362C>T	c.(361-363)cCa>cTa	p.P121L	AOAH_ENST00000535891.1_Missense_Mutation_p.P89L|AOAH_ENST00000258749.5_Missense_Mutation_p.P121L	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	121					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATGACACAATGGTTGGCCAGT	0.463000													41	72					0	0	0.124865	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622409	41622409	+	Missense_Mutation	SNP	G	G	A	rs145103345	byFrequency	TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:41622409G>A	ENST00000331105.2	+	3	293	c.221G>A	c.(220-222)cGg>cAg	p.R74Q		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	74					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGACCCAGGCGGGTGGTGGTC	0.602000													45	94					0	0	0.131918	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101709193	101709193	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:101709193G>A	ENST00000506729.1	-	13	2194	c.2023C>T	c.(2023-2025)Ctt>Ttt	p.L675F	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.L613F|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.L422F|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.L422F|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.L675F			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	675						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGTTTGCAAAGAAAACCTAAA	0.308000													17	36					0	0	0.038395	0	0
TSIX	9383	broad.mit.edu	37	X	73046260	73046260	+	RNA	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:73046260G>A	ENST00000604411.1	+	0	34221				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GATGTGAATAGAAACAGAAGT	0.388000													11	23					0	0	0.080935	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864512	131864512	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:131864512T>G	ENST00000359827.3	-	20	4770	c.3808A>C	c.(3808-3810)Acg>Ccg	p.T1270P	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T1270P			Q9HCM2	PLXA4_HUMAN	plexin A4	1270						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGCTTCAGCGTGAGGTCACTT	0.602000													7	20					0	0	0.058154	0	0
NLRP4	147945	broad.mit.edu	37	19	56373464	56373464	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:56373464G>A	ENST00000301295.6	+	5	2547	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	NLRP4_ENST00000587891.1_Missense_Mutation_p.D634N|NLRP4_ENST00000346986.5_Missense_Mutation_p.D709N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	709							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACTCTCTCGTGATGACATCAG	0.478000													85	45					0	0	0.139131	0	0
TPRG1L	127262	broad.mit.edu	37	1	3542430	3542430	+	Silent	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:3542430G>A	ENST00000378344.2	+	3	518	c.447G>A	c.(445-447)caG>caA	p.Q149Q	TPRG1L_ENST00000344579.5_Intron	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	149						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GAGAATTCCAGTTTCCCCCTA	0.488000													19	12					0	0	0.038395	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421644	134421644	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:134421644G>A	ENST00000370766.3	-	7	3667	c.958C>T	c.(958-960)Cct>Tct	p.P320S	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.P225S	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTATCACCAGGATTTTCCCTG	0.383000													43	85					0	0	0.117977	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26899811	26899811	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:26899811C>T	ENST00000374168.2	+	21	2198	c.2044C>T	c.(2044-2046)Ccc>Tcc	p.P682S	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.P666S|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.P671S|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.P590S|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.P590S|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.P691S	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	682					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGACAAGCTTCCCCAAAGCCA	0.602000													38	34					0	0	0.086207	0	0
APC	324	broad.mit.edu	37	5	112174732	112174732	+	Silent	SNP	C	C	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:112174732C>T	ENST00000457016.1	+	16	3821	c.3441C>T	c.(3439-3441)taC>taT	p.Y1147Y	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.Y1147Y|APC_ENST00000257430.4_Silent_p.Y1147Y			P25054	APC_HUMAN	adenomatous polyposis coli	1147	Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.N1142fs*5(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTGAACGTTACTCTGAAGAAG	0.343000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			13	26					0	0	0.105934	0	0
CALCA	796	broad.mit.edu	37	11	14992719	14992719	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:14992719G>A	ENST00000361010.3	-	2	94	c.20C>T	c.(19-21)tCc>tTc	p.S7F	CALCA_ENST00000331587.4_Missense_Mutation_p.S7F|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000486207.1_Missense_Mutation_p.S7F|CALCA_ENST00000396372.2_Missense_Mutation_p.S7F|CALCA_ENST00000359642.3_Missense_Mutation_p.S7F	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	7					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	CAGGAAGGGGGAGAACTTTTG	0.542000													21	41					0	0	0.076483	0	0
REG1A	5967	broad.mit.edu	37	2	79350320	79350323	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:79350320_79350323delTGTC	ENST00000233735.1	+	6	583_586	c.480_483delTGTC	c.(478-483)ttfs	p.FV160fs		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	160	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.V161L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AGTTCTCCTTTGTCTGCAAGTTCA	0.422													10	7	---	---	---	---					
PTPN23	25930	broad.mit.edu	37	3	47454624	47454626	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:47454624_47454626delTGA	ENST00000265562.4	+	25	4937_4939	c.4860_4862delTGA	c.(4858-4863)tcc>tc	p.SD1620del	PTPN23_ENST00000431726.1_In_Frame_Del_p.SD1494del	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1620					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCGGCCCTCTGACGACCCCCTC	0.581													26	75	---	---	---	---					
B4GALT1	2683	broad.mit.edu	37	9	33166963	33166983	+	In_Frame_Del	DEL	CGGCGGCACTGTTCGAGCCGC	CGGCGGCACTGTTCGAGCCGC	-	rs1064905		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:33166963_33166983delCGGCGGCACTGTTCGAGCCGC	ENST00000379731.4	-	1	371_391	c.185_205delGCGGCTCGAACAGTGCCGCCG	c.(184-207)gcc>g	p.GGSNSAAA62del	RP11-326F20.5_ENST00000426270.1_RNA|RP11-326F20.5_ENST00000442432.1_RNA|B4GALT1_ENST00000535206.1_In_Frame_Del_p.GGSNSAAA62del	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	62					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	TGCCCGATGGCGGCGGCACTGTTCGAGCCGCCCTGCAGCGG	0.738													4	7	---	---	---	---					
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs34222232		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)del	p.S542del		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	542					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.690													8	4	---	---	---	---					
