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
SDK2	54549	broad.mit.edu	37	17	71354224	71354224	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:71354224G>A	ENST00000392650.3	-	40	5587	c.5587C>T	c.(5587-5589)Cct>Tct	p.P1863S	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.P1844S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1863	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCACCTGAAGGTCTGGCCTCG	0.647000													47	220					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44147453	44147453	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:44147453G>A	ENST00000223357.3	+	5	1090	c.785G>A	c.(784-786)aGa>aAa	p.R262K		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	262	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCCCAAGCAGAAGGAGGAGG	0.682000													7	37					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7736087	7736087	+	Silent	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:7736087C>G	ENST00000507866.2	+	25	3406	c.3297C>G	c.(3295-3297)ctC>ctG	p.L1099L	SORCS2_ENST00000329016.9_Silent_p.L927L	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	1099						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCTTCATCCTCTACAAGTTCA	0.617000													6	10					0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75185013	75185013	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:75185013G>C	ENST00000352410.4	+	4	424	c.357G>C	c.(355-357)gaG>gaC	p.E119D	MPI_ENST00000566377.1_Missense_Mutation_p.E119D|MPI_ENST00000323744.6_Missense_Mutation_p.E119D|MPI_ENST00000563786.1_Missense_Mutation_p.E99D|MPI_ENST00000564003.1_Missense_Mutation_p.E69D|MPI_ENST00000563422.1_Missense_Mutation_p.E119D|MPI_ENST00000535694.1_Missense_Mutation_p.E69D|MPI_ENST00000565576.1_Missense_Mutation_p.E119D|MPI_ENST00000562606.1_Missense_Mutation_p.E99D			P34949	MPI_HUMAN	mannose phosphate isomerase	119					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						AGCTGGCAGAGAAGCTGCACC	0.632000													5	47					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32362026	32362026	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:32362026G>C	ENST00000315285.3	+	11	1527	c.1402G>C	c.(1402-1404)Gaa>Caa	p.E468Q	SPAST_ENST00000345662.1_Missense_Mutation_p.E436Q	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	468	Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATTTCTAATAGAATTTGATGG	0.313000													4	19					0	0	1	0	0
RBM41	55285	broad.mit.edu	37	X	106331704	106331704	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:106331704G>A	ENST00000372487.1	-	5	915	c.889C>T	c.(889-891)Cct>Tct	p.P297S	RBM41_ENST00000372479.3_Missense_Mutation_p.P297S|RBM41_ENST00000203616.8_Intron	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	297							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						GAAAACATAGGAATTTTTCGG	0.408000													10	94					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559780	20559780	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:20559780G>A	ENST00000329697.6	-	7	1078	c.910C>T	c.(910-912)Cca>Tca	p.P304S	ACSM2B_ENST00000567001.1_Missense_Mutation_p.P304S|ACSM2B_ENST00000565232.1_Missense_Mutation_p.P304S|ACSM2B_ENST00000565322.1_Missense_Mutation_p.P225S|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	304					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTCTTGATTGGATAACTGGAG	0.478000													6	68					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43930175	43930175	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr13:43930175G>T	ENST00000261488.6	-	8	1280	c.703C>A	c.(703-705)Cgt>Agt	p.R235S	ENOX1_ENST00000412891.1_Missense_Mutation_p.R235S|ENOX1_ENST00000540032.1_Missense_Mutation_p.R48S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	235					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TCCCGGGCACGCATCCTCTGC	0.612000													29	98					4.59853e-10	5.98341e-10	1	1	0
ZNF667	63934	broad.mit.edu	37	19	56953784	56953784	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:56953784G>C	ENST00000504904.3	-	7	1299	c.580C>G	c.(580-582)Cac>Gac	p.H194D	ZNF667_ENST00000342634.3_Missense_Mutation_p.H322D|ZNF667_ENST00000292069.6_Missense_Mutation_p.H194D|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTTCCACTGTGAATTCTCTGA	0.363000													15	56					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67917910	67917910	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:67917910G>T	ENST00000358933.5	+	29	4304	c.4065G>T	c.(4063-4065)cgG>cgT	p.R1355R	CTC-479C5.10_ENST00000572067.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1355					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCATCACTCGGGACCACATGG	0.607000											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	45					2.80697e-09	3.5629e-09	1	1	0
ZNF665	79788	broad.mit.edu	37	19	53668841	53668841	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:53668841T>C	ENST00000600412.1	-	2	822	c.707A>G	c.(706-708)cAa>cGa	p.Q236R	ZNF665_ENST00000396424.3_Missense_Mutation_p.Q301R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GTGTGAATTTTGAGTGAAGCA	0.423000													40	92					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160148457	160148457	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:160148457G>A	ENST00000357388.3	+	19	3317	c.2866G>A	c.(2866-2868)Gat>Aat	p.D956N	SMC4_ENST00000462787.1_Missense_Mutation_p.D956N|SMC4_ENST00000469762.1_Missense_Mutation_p.D931N|SMC4_ENST00000360111.2_Missense_Mutation_p.D956N|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.D956N	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	956					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAAGAGGTGGATGACCTAAC	0.398000													6	42					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17367437	17367437	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:17367437A>G	ENST00000252597.3	-	9	1486	c.1313T>C	c.(1312-1314)cTa>cCa	p.L438P	USHBP1_ENST00000431146.2_Missense_Mutation_p.L374P	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	438							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AATCTTCATTAGAGAACGGCG	0.602000													44	83					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34047319	34047319	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:34047319A>G	ENST00000389232.4	+	58	8523	c.8453A>G	c.(8452-8454)tAt>tGt	p.Y2818C	RYR3_ENST00000415757.3_Missense_Mutation_p.Y2818C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2818	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGTTTGCCTATAAGTTCTTG	0.413000													3	16					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028994	100028994	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:100028994C>T	ENST00000310512.2	+	1	1741	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	451	Bin3-type SAM.|S-adenosyl-L-methionine binding.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TAGATCTGGGCTGCAATGTGG	0.602000													12	87					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52961996	52961996	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:52961996C>A	ENST00000549343.1	-	8	1392	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	KRT74_ENST00000305620.2_Nonsense_Mutation_p.E438*			Q7RTS7	K2C74_HUMAN	keratin 74	438	Tail.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GTGGCAATCTCCATGTCCAGG	0.647000													20	107					2.4624e-09	3.13142e-09	1	1	0
GP5	2814	broad.mit.edu	37	3	194118339	194118339	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:194118339A>T	ENST00000401815.1	-	1	744	c.673T>A	c.(673-675)Ttc>Atc	p.F225I	GP5_ENST00000323007.3_Missense_Mutation_p.F225I			P40197	GPV_HUMAN	glycoprotein V (platelet)	225					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TTTCGGTGGAACTGCAGCTCC	0.587000													29	208					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42605682	42605682	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr22:42605682T>A	ENST00000359486.3	-	1	5766	c.5630A>T	c.(5629-5631)gAa>gTa	p.E1877V	TCF20_ENST00000404876.1_Missense_Mutation_p.E178V|TCF20_ENST00000335626.4_Missense_Mutation_p.E1877V	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1877					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCCAGCGCTTCCTGCAGGCC	0.438000													21	121					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650897	146650897	+	RNA	SNP	A	A	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:146650897A>C	ENST00000607149.1	+	0	350																											ATTGAATTTTATGCCCCTTGG	0.423000													5	35					0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23350781	23350781	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr20:23350781G>T	ENST00000338121.5	+	6	1916	c.1839G>T	c.(1837-1839)tcG>tcT	p.S613S	GZF1_ENST00000377051.2_Silent_p.S613S|GZF1_ENST00000544236.1_Silent_p.S137S|GZF1_ENST00000542987.1_Silent_p.S122S			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	613					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)					TAGATGGCTCGCCCAAGAACG	0.418000													8	47					0.000442599	0.000476537	1	1	0
MCMDC2	157777	broad.mit.edu	37	8	67809079	67809079	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:67809079C>T	ENST00000422365.2	+	12	1682	c.1511C>T	c.(1510-1512)tCa>tTa	p.S504L	MCMDC2_ENST00000396592.3_Missense_Mutation_p.S504L|MCMDC2_ENST00000313616.5_Missense_Mutation_p.S504L|MCMDC2_ENST00000541540.1_Missense_Mutation_p.S441L	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	504					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TGCAACGAGTCATCTCCCTGC	0.418000													19	206					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98515156	98515156	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:98515156A>G	ENST00000359863.4	+	20	2685	c.2476A>G	c.(2476-2478)Atg>Gtg	p.M826V	TRRAP_ENST00000446306.3_Missense_Mutation_p.M825V|TRRAP_ENST00000355540.3_Missense_Mutation_p.M826V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	826					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTACCTGCCCATGCTTATGGA	0.582000													15	146					0	0	1	0	0
WNT8A	7478	broad.mit.edu	37	5	137419793	137419793	+	Silent	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:137419793T>C	ENST00000398754.1	+	1	20	c.15T>C	c.(13-15)ttT>ttC	p.F5F	WNT8A_ENST00000506684.1_5'UTR	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	5					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGAACCTGTTTATGCTCTGGG	0.577000													8	69					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122726942	122726942	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:122726942G>A	ENST00000267199.4	-	8	1195	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	RP11-512M8.5_ENST00000535844.1_Silent_p.I322I	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	361					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TGACATCTTTGATCAATTCTG	0.473000													10	90					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196577426	196577426	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:196577426T>G	ENST00000367433.5	-	1	115	c.14A>C	c.(13-15)gAg>gCg	p.E5A	KCNT2_ENST00000367431.4_Missense_Mutation_p.E5A|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.E5A			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	5						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CACTTCGCTCTCCAAATCAAC	0.512000													9	61					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141014743	141014743	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:141014743C>T	ENST00000277549.5	+	45	6308	c.3739C>T	c.(3739-3741)Cac>Tac	p.H1247Y	CACNA1B_ENST00000371363.1_Missense_Mutation_p.H2051Y|CACNA1B_ENST00000371357.1_Missense_Mutation_p.H2052Y|CACNA1B_ENST00000371355.4_Missense_Mutation_p.H2054Y|CACNA1B_ENST00000277551.2_Missense_Mutation_p.H2053Y|CACNA1B_ENST00000371372.1_Missense_Mutation_p.H2053Y			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2053					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCACCACCACCACCACCGCTG	0.716000													3	9					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32464000	32464000	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr22:32464000A>G	ENST00000266088.4	+	4	609	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	SLC5A1_ENST00000543737.1_5'UTR	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	120					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTCCCCATCTATATTAAGGCT	0.473000													27	144					0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148921398	148921398	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:148921398T>A	ENST00000262085.3	+	8	1780	c.1675T>A	c.(1675-1677)Tcg>Acg	p.S559T	ZNF282_ENST00000479907.1_3'UTR	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	559					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CAACTGCCACTCGGGCCTCAT	0.637000													19	68					0	0	1	0	0
CCNI	10983	broad.mit.edu	37	4	77969604	77969604	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:77969604C>G	ENST00000237654.4	-	7	1478	c.902G>C	c.(901-903)aGa>aCa	p.R301T	CCNI_ENST00000537948.1_Missense_Mutation_p.R287T	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	301					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						TGCTGTACCTCTGACTGGCAC	0.512000													19	72					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7606072	7606072	+	Silent	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:7606072C>G	ENST00000316024.5	+	8	3524	c.1176C>G	c.(1174-1176)ctC>ctG	p.L392L	WRAP53_ENST00000534050.1_Silent_p.L359L|WRAP53_ENST00000396463.2_Silent_p.L392L|WRAP53_ENST00000457584.2_Silent_p.L392L|WRAP53_ENST00000431639.2_Silent_p.L392L			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	392					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						ATGCTGAGCTCCTGTGCTGGG	0.612000													11	60					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2426187	2426187	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:2426187G>T	ENST00000452833.1	-	24	3492	c.3484C>A	c.(3484-3486)Cag>Aag	p.Q1162K	TRPM5_ENST00000528453.1_Missense_Mutation_p.Q1161K|TRPM5_ENST00000155858.6_Missense_Mutation_p.Q1160K|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000533060.1_Missense_Mutation_p.Q1168K			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1160						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGGGAGGCTGGCCAGCCCCG	0.647000													8	63					5.4927e-09	6.91978e-09	1	1	0
STAT1	6772	broad.mit.edu	37	2	191859800	191859800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:191859800G>A	ENST00000361099.3	-	10	1318	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Nonsense_Mutation_p.Q311*|STAT1_ENST00000392322.3_Nonsense_Mutation_p.Q311*|STAT1_ENST00000392323.2_Nonsense_Mutation_p.Q313*	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	311					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGAATGAGCTGCTGGAAAAGA	0.388000													4	46					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6644998	6644998	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:6644998C>A	ENST00000299441.3	-	21	8320	c.7909G>T	c.(7909-7911)Gtg>Ttg	p.V2637L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2637	Cadherin 25.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGAAACGCACGAGGCCATGA	0.607000													17	92					8.60227e-14	1.17367e-13	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163361034	163361034	+	Silent	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:163361034T>C	ENST00000332142.5	-	6	1146	c.1047A>G	c.(1045-1047)tcA>tcG	p.S349S	KCNH7_ENST00000328032.4_Silent_p.S342S|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	349					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAGGAGGTGATGAATTCTTTT	0.383000													28	80					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38243401	38243401	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:38243401T>G	ENST00000319669.4	+	11	935	c.833T>G	c.(832-834)cTc>cGc	p.L278R	TMCO5A_ENST00000559502.1_Intron|TMCO5A_ENST00000540944.1_Intron	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	278						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TTTCCATCTCTCACACTTGAG	0.478000													8	62					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483561	56483561	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:56483561C>A	ENST00000370765.6	-	23	5378	c.5271G>T	c.(5269-5271)aaG>aaT	p.K1757N	DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1149					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTTTTCCATCTTCTTCCGAA	0.393000													31	132					8.4185e-14	1.15093e-13	1	1	0
LRRTM3	347731	broad.mit.edu	37	10	68687790	68687790	+	Silent	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:68687790C>G	ENST00000361320.4	+	2	1694	c.1116C>G	c.(1114-1116)gcC>gcG	p.A372A	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	372						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TTGATCTGGCCAGGGCTCTCC	0.567000													30	80					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657121	40657121	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:40657121C>A	ENST00000406785.1	-	2	489	c.300G>T	c.(298-300)atG>atT	p.M100I	SLC8A1_ENST00000406391.2_Missense_Mutation_p.M100I|SLC8A1_ENST00000408028.2_Missense_Mutation_p.M100I|SLC8A1_ENST00000332839.4_Missense_Mutation_p.M100I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.M100I|SLC8A1_ENST00000405269.1_Missense_Mutation_p.M100I|SLC8A1_ENST00000403092.1_Missense_Mutation_p.M100I|SLC8A1_ENST00000402441.1_Missense_Mutation_p.M100I|SLC8A1_ENST00000542756.1_Missense_Mutation_p.M100I|SLC8A1_ENST00000542024.1_Missense_Mutation_p.M100I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	100					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTATAGAGGACATGAACCGAT	0.408000													8	84					0.00307968	0.00322314	1	1	0
ACE	1636	broad.mit.edu	37	17	61561749	61561749	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:61561749G>T	ENST00000290866.4	+	12	1792	c.1768G>T	c.(1768-1770)Ggc>Tgc	p.G590C	ACE_ENST00000428043.1_Missense_Mutation_p.G590C	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	590	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)	GGACATGGTCGGCTTAGATGC	0.647000													3	19					6.4e-05	7.15357e-05	1	1	0
NPL	80896	broad.mit.edu	37	1	182787753	182787753	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:182787753C>T	ENST00000367554.3	+	7	796	c.478C>T	c.(478-480)Ctc>Ttc	p.L160F	NPL_ENST00000367553.1_Missense_Mutation_p.L179F|NPL_ENST00000258317.2_Missense_Mutation_p.L179F|NPL_ENST00000367555.1_Missense_Mutation_p.L179F|NPL_ENST00000367552.2_Missense_Mutation_p.L179F|NPL_ENST00000463899.1_3'UTR	NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	179					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						TGATACAGATCTCTTAGACTT	0.473000													8	59					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419878	130419878	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:130419878C>A	ENST00000370904.1	-	10	1125	c.215G>T	c.(214-216)cGc>cTc	p.R72L	IGSF1_ENST00000370910.1_Missense_Mutation_p.R72L|IGSF1_ENST00000370901.4_Missense_Mutation_p.R81L|IGSF1_ENST00000361420.3_Missense_Mutation_p.R81L|IGSF1_ENST00000370903.3_Missense_Mutation_p.R81L|IGSF1_ENST00000370900.1_Missense_Mutation_p.R81L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	81	Ig-like C2-type 1.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTGGGAAGGGCGGATCCAGGT	0.537000													13	152					9.05144e-12	1.20805e-11	1	1	0
PEX1	5189	broad.mit.edu	37	7	92131279	92131279	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:92131279C>A	ENST00000248633.4	-	14	2436	c.2341G>T	c.(2341-2343)Gct>Tct	p.A781S	PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.A459S|PEX1_ENST00000428214.1_Missense_Mutation_p.A724S	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	781					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAATCTCTAGCCACAAACCCG	0.373000													36	232					2.26627e-22	3.24993e-22	1	1	0
HCN1	348980	broad.mit.edu	37	5	45267222	45267222	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:45267222C>A	ENST00000303230.4	-	7	1809	c.1752G>T	c.(1750-1752)gaG>gaT	p.E584D		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	584						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGGCAACTGTCTCAAAGGCTC	0.393000													21	100					1.55795e-14	2.14297e-14	1	1	0
OR4K1	79544	broad.mit.edu	37	14	20404563	20404563	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:20404563G>T	ENST00000285600.4	+	1	797	c.738G>T	c.(736-738)gtG>gtT	p.V246V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACATCACAGTGGTCATTCTTT	0.413000													11	52					2.27111e-07	2.74817e-07	1	1	0
TCN1	6947	broad.mit.edu	37	11	59622189	59622189	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:59622189G>T	ENST00000257264.3	-	7	1161	c.1057C>A	c.(1057-1059)Cta>Ata	p.L353I	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	353					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAACCATTTAGCACAGTGACA	0.393000													29	85					3.80469e-20	5.37603e-20	1	1	0
TBX5	6910	broad.mit.edu	37	12	114804106	114804106	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:114804106G>T	ENST00000310346.4	-	8	1512	c.846C>A	c.(844-846)tcC>tcA	p.S282S	TBX5_ENST00000349716.5_Silent_p.S232S|TBX5_ENST00000526441.1_Silent_p.S282S|TBX5_ENST00000405440.2_Silent_p.S282S	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	282					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TGGATGAGGTGGAGAGAGCTC	0.572000													7	94					0.00198382	0.00208921	1	1	0
DHRSX	207063	broad.mit.edu	37	X	2139106	2139106	+	Silent	SNP	A	A	T	rs144973925	byFrequency	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:2139106A>T	ENST00000334651.5	-	7	1021	c.969T>A	c.(967-969)acT>acA	p.T323T		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	323							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAAGGACCCCAGTCATCTCAC	0.512000													9	70					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155761101	155761101	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:155761101G>C	ENST00000159060.2	-	6	759	c.657C>G	c.(655-657)atC>atG	p.I219M		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	219	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCGTCCCATGGATGGCCAGGC	0.478000													7	34					0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71165865	71165865	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:71165865T>A	ENST00000357585.2	+	2	776	c.407T>A	c.(406-408)aTg>aAg	p.M136K	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.M136K	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	136					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGACAGTCATGAGCATCGAC	0.587000													7	67					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101065067	101065067	+	Missense_Mutation	SNP	C	C	G	rs2926769		TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:101065067C>G	ENST00000360863.6	-	10	1846	c.1652G>C	c.(1651-1653)aGa>aCa	p.R551T	RGS22_ENST00000523437.1_Missense_Mutation_p.R539T|RGS22_ENST00000523287.1_Missense_Mutation_p.R370T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	551					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGATTTGGGTCTTAATGGCAA	0.418000													25	82					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27436479	27436479	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:27436479T>A	ENST00000326799.3	-	3	435	c.287A>T	c.(286-288)gAc>gTc	p.D96V	YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000477432.1_Missense_Mutation_p.D96V	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	96					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						atcggttgtgtccaagctctt	0.438000													4	10					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56438527	56438527	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:56438527G>C	ENST00000370754.5	-	51	13092	c.13093C>G	c.(13093-13095)Caa>Gaa	p.Q4365E	DST_ENST00000370788.2_Missense_Mutation_p.Q2099E|DST_ENST00000446842.2_Missense_Mutation_p.Q3861E|DST_ENST00000421834.2_Missense_Mutation_p.Q2099E|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.Q4187E|DST_ENST00000244364.6_Missense_Mutation_p.Q1773E|DST_ENST00000361203.3_Missense_Mutation_p.Q4185E			Q03001	DYST_HUMAN	dystonin	4185					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAAGGCACTTGACCTTGTTCT	0.378000													8	87					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14599505	14599505	+	Silent	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:14599505T>C	ENST00000218075.4	+	4	1001	c.471T>C	c.(469-471)aaT>aaC	p.N157N	GLRA2_ENST00000355020.4_Silent_p.N157N|GLRA2_ENST00000443437.2_Silent_p.N68N	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	157					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TTTCGAAAAATGGCAAAGTGC	0.458000													17	58					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95155122	95155122	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:95155122A>T	ENST00000354268.4	+	4	459	c.386A>T	c.(385-387)gAt>gTt	p.D129V	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D129V			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	129					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CCATCTGAAGATGAAGAGTCC	0.338000													7	35					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173525560	173525560	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:173525560G>C	ENST00000457714.1	+	4	1013	c.584G>C	c.(583-585)aGt>aCt	p.S195T	NLGN1_ENST00000545397.1_Missense_Mutation_p.S195T|NLGN1_ENST00000401917.3_Missense_Mutation_p.S235T|NLGN1_ENST00000361589.4_Missense_Mutation_p.S195T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	212					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.S195N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TATGATGGAAGTGTCTTGGCA	0.428000													12	75					0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53044165	53044165	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:53044165T>A	ENST00000309680.3	-	2	779	c.758A>T	c.(757-759)gAg>gTg	p.E253V		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	253	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GTTATTCAGCTCTGAATTCTG	0.473000													21	141					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482124	37482124	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:37482124G>C	ENST00000374660.1	+	33	2840	c.2741G>C	c.(2740-2742)aGa>aCa	p.R914T	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R795T|ANKRD30A_ENST00000475522.1_3'UTR|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R795T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	967						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCTCCCTGCAGAATGAAAGTT	0.269000													8	47					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160148451	160148451	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:160148451G>A	ENST00000357388.3	+	19	3311	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	SMC4_ENST00000462787.1_Missense_Mutation_p.E954K|SMC4_ENST00000469762.1_Missense_Mutation_p.E929K|SMC4_ENST00000360111.2_Missense_Mutation_p.E954K|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.E954K	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	954					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TACTGAGAAAGAGGTGGATGA	0.393000													6	45					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125280103	125280103	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:125280103G>A	ENST00000298282.9	+	8	871	c.600G>A	c.(598-600)caG>caA	p.Q200Q	PKNOX2_ENST00000542175.1_Silent_p.Q136Q|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	200						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		ACCTCCTGCAGAATTCCCCCA	0.582000													39	169					0	0	1	0	0
FOXF1	2294	broad.mit.edu	37	16	86546626	86546626	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:86546626G>T	ENST00000262426.4	+	2	1118	c.1075G>T	c.(1075-1077)Gcc>Tcc	p.A359S		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	359					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel 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 factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CATGCACTCGGCCGGCGGGGG	0.622000													9	66					0.000978159	0.00104482	1	1	0
KCNK2	3776	broad.mit.edu	37	1	215259724	215259724	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:215259724C>A	ENST00000444842.2	+	2	210	c.60C>A	c.(58-60)gaC>gaA	p.D20E	KCNK2_ENST00000391895.2_Missense_Mutation_p.D16E|KCNK2_ENST00000391894.2_Missense_Mutation_p.D5E	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	20							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CGGCACCTGACTTGCTGGATC	0.532000													11	38					2.27111e-07	2.74817e-07	1	1	0
DSC3	1825	broad.mit.edu	37	18	28612170	28612170	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr18:28612170T>C	ENST00000434452.1	-	2	296	c.142A>G	c.(142-144)Ata>Gta	p.I48V	DSC3_ENST00000360428.4_Missense_Mutation_p.I48V	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	48					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTGCCAATTATTTTGTCTGCC	0.343000													10	33					0	0	1	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940296	67940296	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:67940296G>A	ENST00000357461.2	-	3	754	c.345C>T	c.(343-345)ctC>ctT	p.L115L	TMEM229B_ENST00000557006.1_Silent_p.L115L	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	115						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCAGGGTGATGAGGCCCATGA	0.612000													4	15					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682020	47682020	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:47682020G>T	ENST00000283303.2	+	6	1297	c.1039G>T	c.(1039-1041)Gcc>Tcc	p.A347S	GPR115_ENST00000327753.3_Missense_Mutation_p.A347S|GPR115_ENST00000371220.1_Missense_Mutation_p.A404S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	347	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CAATGCCAGAGCCCAGTGTGT	0.453000													17	47					1.5739e-10	2.05982e-10	1	1	0
NF1	4763	broad.mit.edu	37	17	29562635	29562635	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:29562635C>T	ENST00000358273.4	+	28	4098	c.3715C>T	c.(3715-3717)Cta>Tta	p.L1239L	NF1_ENST00000356175.3_Silent_p.L1239L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1239	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAGGATGAACTAGCTCGAGT	0.383000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			19	146					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22805674	22805674	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr18:22805674G>T	ENST00000361524.3	-	4	2356	c.2208C>A	c.(2206-2208)tcC>tcA	p.S736S	ZNF521_ENST00000538137.2_Silent_p.S736S|ZNF521_ENST00000584787.1_Silent_p.S516S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	736					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGAGCTGAATGGAGACTTTTG	0.483000			T	PAX5	ALL								5	50					0.184627	0.185177	1	1	0
ANK1	286	broad.mit.edu	37	8	41556969	41556969	+	Splice_Site	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:41556969C>A	ENST00000396942.1	-	23	2642		c.e23+1		ANK1_ENST00000347528.4_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000352337.4_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000289734.7_Splice_Site			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCACTGCTCACACTTGGTCTA	0.602000													28	72					2.61193e-14	3.58542e-14	1	1	0
LILRA4	23547	broad.mit.edu	37	19	54849400	54849400	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:54849400C>T	ENST00000291759.4	-	4	518	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	154	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTTCCTCAATCAGAGTGAACC	0.612000													8	37					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863034	10863034	+	RNA	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr21:10863034G>T	ENST00000559480.1	+	0	330																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CTGAGGACACGGCCATGTATT	0.502000													39	352					2.66277e-13	3.5966e-13	1	1	0
MPO	4353	broad.mit.edu	37	17	56355208	56355208	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:56355208C>T	ENST00000340482.3	-	6	1456	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	MPO_ENST00000225275.3_Missense_Mutation_p.R395H|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	395					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GCAGGGGATGCGCGCTGAGCG	0.617000													14	82					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149915757	149915757	+	Nonstop_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:149915757C>A	ENST00000369135.3	-	12	2825	c.2531G>T	c.(2530-2532)tGa>tTa	p.*844L		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	0					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCCACCCGTTCAGAACCTGTG	0.517000													12	77					1.05317e-09	1.35984e-09	1	1	0
SLC30A10	55532	broad.mit.edu	37	1	220088800	220088800	+	Silent	SNP	C	C	G	rs148203711		TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:220088800C>G	ENST00000366926.3	-	4	1610	c.1449G>C	c.(1447-1449)acG>acC	p.T483T	SLC30A10_ENST00000536446.1_Silent_p.T238T|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	483					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		ATTAAAAATGCGTTCTGTTGA	0.438000													17	139					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256382	140256382	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:140256382C>A	ENST00000398631.2	+	1	1325	c.1325C>A	c.(1324-1326)tCc>tAc	p.S442Y	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGAGTGTCCGTGGAGGTG	0.662000													58	157					6.83704e-37	9.97438e-37	1	1	0
TTN	7273	broad.mit.edu	37	2	179474535	179474535	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:179474535C>T	ENST00000589042.1	-	272	51839	c.51615G>A	c.(51613-51615)ctG>ctA	p.L17205L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L8140L|TTN_ENST00000359218.5_Silent_p.L8265L|TTN_ENST00000342992.6_Silent_p.L14637L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.L8332L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.L15564L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15564	Fibronectin type-III 24.						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)			CTGTATAGGTCAGGATTGGTA	0.483000													38	398					0	0	1	0	0
LOH12CR1	118426	broad.mit.edu	37	12	12514235	12514235	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:12514235G>T	ENST00000314565.4	+	2	485	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.D33Y	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	52										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CAACGATCCCGATGTCATCAA	0.483000													34	113					4.34311e-12	5.83118e-12	1	1	0
OR5L2	26338	broad.mit.edu	37	11	55595304	55595304	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:55595304A>T	ENST00000378397.1	+	1	610	c.610A>T	c.(610-612)Act>Tct	p.T204S		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCTGGTGGCCACTTTGAATGA	0.463000										HNSCC(27;0.073)			29	176					0	0	1	0	0
CXCR6	10663	broad.mit.edu	37	3	45988828	45988828	+	Silent	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:45988828T>A	ENST00000458629.1	+	1	2318	c.855T>A	c.(853-855)ccT>ccA	p.P285P	CXCR6_ENST00000457814.1_Silent_p.P285P|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000304552.4_Silent_p.P285P|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000438735.1_Silent_p.P285P|FYCO1_ENST00000438446.1_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	285					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCCTTAACCCTGTGCTCTATG	0.502000													20	39					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70451060	70451060	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:70451060A>G	ENST00000373644.4	+	12	6109	c.5900A>G	c.(5899-5901)gAt>gGt	p.D1967G		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1967					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCTGAAGCAGATGAGCCTCCA	0.522000													52	131					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136987	40136987	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:40136987G>T	ENST00000278198.2	-	2	2819	c.856C>A	c.(856-858)Ctc>Atc	p.L286I	LRRC4C_ENST00000528697.1_Missense_Mutation_p.L286I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.L286I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.L286I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	286					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGAGTGAAGAGGTCATGAGGC	0.443000													21	136					1.36565e-18	1.91759e-18	1	1	0
OR2B11	127623	broad.mit.edu	37	1	247615009	247615009	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:247615009G>T	ENST00000318749.6	-	1	299	c.276C>A	c.(274-276)tcC>tcA	p.S92S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGTCTTCTGGGAACTGCCCA	0.582000													16	88					5.01169e-05	5.6298e-05	1	1	0
PILRB	29990	broad.mit.edu	37	7	99957041	99957041	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:99957041C>G	ENST00000310771.4	+	17	3032	c.536C>G	c.(535-537)tCa>tGa	p.S179*	PILRB_ENST00000452089.1_Nonsense_Mutation_p.S179*|PILRB_ENST00000444073.1_Nonsense_Mutation_p.S179*|PILRB_ENST00000448382.1_Silent_p.L231L|PILRB_ENST00000444874.1_Silent_p.L109L			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	179					activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAGGGCACTCAGAATCATGG	0.557000													20	107					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019904	56019904	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:56019904G>T	ENST00000303059.3	+	1	229	c.229G>T	c.(229-231)Gtg>Ttg	p.V77L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AGGGCTGGTTGTGTTGGTCAT	0.378000													18	46					8.28177e-16	1.15091e-15	1	1	0
ITIH5	80760	broad.mit.edu	37	10	7679321	7679321	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:7679321G>A	ENST00000256861.6	-	5	600	c.522C>T	c.(520-522)atC>atT	p.I174I	ITIH5_ENST00000397146.2_Silent_p.I174I|ITIH5_ENST00000397145.2_Silent_p.I174I|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	174					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCCGCACGCTGATGCTGTGCT	0.602000													13	91					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65321285	65321285	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:65321285C>T	ENST00000301873.5	-	3	1019	c.751G>A	c.(751-753)Gag>Aag	p.E251K	LTBP3_ENST00000322147.4_Missense_Mutation_p.E251K|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	251						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCTGCGCTCTCGGCGTTCGAG	0.726000													8	8					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15937148	15937148	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:15937148C>A	ENST00000504595.1	+	4	1810	c.1329C>A	c.(1327-1329)ggC>ggA	p.G443G	FBXL7_ENST00000510662.1_Silent_p.G396G|FBXL7_ENST00000329673.7_Silent_p.G431G	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	443					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCATCACCGGCCAGGGCTTGC	0.617000													7	26					7.48243e-07	8.84764e-07	1	1	0
PAX1	5075	broad.mit.edu	37	20	21687581	21687581	+	Silent	SNP	C	C	G	rs140128849		TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr20:21687581C>G	ENST00000398485.2	+	2	846	c.792C>G	c.(790-792)ggC>ggG	p.G264G	PAX1_ENST00000444366.2_Silent_p.G240G|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	264					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGCCCACGGGCGCCAAGATGG	0.692000													7	52					0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167549989	167549989	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:167549989G>C	ENST00000341935.5	+	3	823	c.271G>C	c.(271-273)Gca>Cca	p.A91P	CCR6_ENST00000400926.2_Missense_Mutation_p.A91P|CCR6_ENST00000349984.4_Missense_Mutation_p.A91P	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	91					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CATGGCCATTGCAGACATCCT	0.483000													37	82					0	0	1	0	0
LYZL2	119180	broad.mit.edu	37	10	30915075	30915075	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:30915075C>A	ENST00000375318.2	-	3	451	c.395G>T	c.(394-396)gGa>gTa	p.G132V		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	86					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CTTCAGCTTTCCGCGTCTGCA	0.572000													19	112					2.94398e-08	3.64751e-08	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139163771	139163771	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:139163771C>A	ENST00000395297.1	-	13	3117	c.2947G>T	c.(2947-2949)Ggc>Tgc	p.G983C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	983										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACACAGTGCCTGCTTTATGT	0.502000										HNSCC(54;0.14)			7	84					0.000157383	0.000173045	1	1	0
IGHG4	3503	broad.mit.edu	37	14	106090876	106090876	+	RNA	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:106090876C>T	ENST00000390543.2	-	0	920																											CCTCATGCATCACGGAGCATG	0.622000													19	254					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233405354	233405354	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:233405354G>C	ENST00000389494.3	+	4	304	c.283G>C	c.(283-285)Gaa>Caa	p.E95Q	CHRNG_ENST00000389492.3_Missense_Mutation_p.E95Q	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	95					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GCGAGACTACGAAGGCCTGTG	0.662000													4	21					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99772020	99772020	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:99772020G>T	ENST00000370185.3	+	7	2243	c.1746G>T	c.(1744-1746)atG>atT	p.M582I	LPPR4_ENST00000370184.1_Missense_Mutation_p.M424I|LPPR4_ENST00000457765.1_Missense_Mutation_p.M524I	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		582							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCATAGCCATGTCCAAGCAGC	0.537000													20	58					1.00905e-13	1.37116e-13	1	1	0
RAP1GDS1	5910	broad.mit.edu	37	4	99338644	99338644	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:99338644G>C	ENST00000408927.3	+	9	1147	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T	RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.R296T|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.R254T|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.R346T|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.R297T|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.R346T	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	345							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AATTTTGCCAGAAATGGTAAG	0.368000			T	NUP98	T-ALL								4	22					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46724609	46724609	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr22:46724609C>A	ENST00000454366.1	+	10	1961	c.1749C>A	c.(1747-1749)aaC>aaA	p.N583K		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	564					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GGGAGAGCAACAGAAAGACAG	0.478000													6	84					0.00116845	0.00124216	1	1	0
PCDHA8	56140	broad.mit.edu	37	5	140220940	140220940	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:140220940T>G	ENST00000531613.1	+	1	34	c.34T>G	c.(34-36)Tgg>Ggg	p.W12G	PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.W12G|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGGATCCTGGCGACTACT	0.502000													21	76					0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87492306	87492306	+	Splice_Site	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:87492306C>A	ENST00000296595.6	-	12	1311		c.e12-1		TMEM161B_ENST00000514135.1_Splice_Site|TMEM161B_ENST00000506536.1_Splice_Site|TMEM161B_ENST00000512429.1_Splice_Site|TMEM161B_ENST00000511218.1_Splice_Site|TMEM161B_ENST00000515293.1_Splice_Site	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B							integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GAATGATTACCTAGAAAATCA	0.299000													8	33					0.00307968	0.00322314	1	1	0
OR8J1	219477	broad.mit.edu	37	11	56128441	56128441	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:56128441C>A	ENST00000303039.3	+	1	751	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GCCTTTTCTACCTGTGCTTCA	0.348000													13	89					0.000151284	0.000167157	1	1	0
OTOL1	131149	broad.mit.edu	37	3	161214743	161214743	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:161214743C>A	ENST00000327928.4	+	1	148	c.148C>A	c.(148-150)Cca>Aca	p.P50T		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	50						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						ATCCAGTGGCCCACCTCCAGA	0.468000													8	49					0.000157383	0.000173045	1	1	0
OR51G2	81282	broad.mit.edu	37	11	4936858	4936858	+	Missense_Mutation	SNP	G	G	T	rs143599659		TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:4936858G>T	ENST00000322013.3	-	1	64	c.36C>A	c.(34-36)agC>agA	p.S12R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAGCAGAAACGCTGCTGCTGC	0.552000													8	52					7.48243e-07	8.84764e-07	1	1	0
GPR85	54329	broad.mit.edu	37	7	112724213	112724213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:112724213C>A	ENST00000501255.2	-	3	1187	c.564G>T	c.(562-564)atG>atT	p.M188I	GPR85_ENST00000424100.1_Missense_Mutation_p.M188I|GPR85_ENST00000449591.1_Missense_Mutation_p.M188I|GPR85_ENST00000297146.2_Missense_Mutation_p.M188I	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	188						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CAAGAAGCAGCATAAATCCTA	0.468000													30	78					1.2476e-16	1.74096e-16	1	1	0
FAM155B	27112	broad.mit.edu	37	X	68749734	68749734	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:68749734G>T	ENST00000252338.4	+	3	1396	c.1354G>T	c.(1354-1356)Ggt>Tgt	p.G452C		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	453						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CAGCAACCAGGGTGGTGGGGG	0.637000													19	49					2.4624e-09	3.13142e-09	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248309247	248309247	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:248309247C>A	ENST00000366476.1	+	1	798	c.798C>A	c.(796-798)cgC>cgA	p.R266R		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			CATCTGATCGCTCCCCTATGC	0.517000													14	141					9.31168e-06	1.06918e-05	1	1	0
PKN3	29941	broad.mit.edu	37	9	131469282	131469282	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:131469282G>C	ENST00000291906.4	+	5	1024	c.631G>C	c.(631-633)Gac>Cac	p.D211H		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	211					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GAGAACACAGGACCGCAAGGC	0.632000													9	110					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463919	25463919	+	RNA	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:25463919G>T	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TTTTGGACCTGGGACCTGGTG	0.582000													11	101					1.58986e-06	1.86684e-06	1	1	0
CHD8	57680	broad.mit.edu	37	14	21870664	21870664	+	Splice_Site	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:21870664T>A	ENST00000399982.2	-	18	3779		c.e18-2		CHD8_ENST00000557364.1_Splice_Site|CHD8_ENST00000555962.1_Splice_Site|CHD8_ENST00000430710.3_Splice_Site	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8						ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGCCTGGGCCTGGTTTAAAAT	0.408000													4	28					0	0	1	0	0
S1PR4	8698	broad.mit.edu	37	19	3179881	3179881	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:3179881C>G	ENST00000246115.3	+	1	1146	c.1091C>G	c.(1090-1092)tCc>tGc	p.S364C		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	364					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TTTCGCGGCTCCCGCTCGCTC	0.672000													19	90					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8211813	8211813	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:8211813G>C	ENST00000307637.4	-	2	1172	c.969C>G	c.(967-969)ttC>ttG	p.F323L		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	323					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CGTCATCTGTGAATTGGCCTA	0.458000													7	105					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88960655	88960655	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:88960655C>A	ENST00000375961.2	-	4	962	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.D250Y|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.D83Y|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.D250Y			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	250					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATTAAAACATCACAGAGTCTG	0.358000													4	35					0.00024832	0.00027126	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72973953	72973953	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:72973953G>T	ENST00000262209.4	-	7	1058	c.851C>A	c.(850-852)gCc>gAc	p.A284D		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	284						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATCTCAGTGGCTCCCTGGGT	0.408000													7	58					2.0095e-06	2.34325e-06	1	1	0
MS4A3	932	broad.mit.edu	37	11	59834501	59834501	+	Silent	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:59834501A>T	ENST00000278865.3	+	5	502	c.429A>T	c.(427-429)atA>atT	p.I143I	MS4A3_ENST00000395032.2_Silent_p.I20I|MS4A3_ENST00000358152.2_Silent_p.I97I|MS4A3_ENST00000534744.1_Silent_p.I97I	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	143						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CACTAAATATAGCAGTTAATA	0.363000													9	19					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41033257	41033257	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:41033257C>A	ENST00000399564.4	-	23	2697	c.2247G>T	c.(2245-2247)atG>atT	p.M749I	MROH2B_ENST00000506092.2_Missense_Mutation_p.M304I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTTGCAGATCCATGTCCTAAA	0.428000													5	18					0.184627	0.185177	1	1	0
CCDC116	164592	broad.mit.edu	37	22	21989501	21989501	+	Silent	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr22:21989501A>G	ENST00000292779.3	+	4	1310	c.1149A>G	c.(1147-1149)agA>agG	p.R383R		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	383										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCAAGGACAGAGGAGGCTCCC	0.607000													7	45					0	0	1	0	0
BTRC	8945	broad.mit.edu	37	10	103285902	103285902	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:103285902A>T	ENST00000370187.3	+	6	807	c.689A>T	c.(688-690)gAg>gTg	p.E230V	BTRC_ENST00000408038.2_Missense_Mutation_p.E194V|BTRC_ENST00000393441.4_Missense_Mutation_p.E189V	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	230					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)		AAGCTTATCGAGAGAATGGTC	0.493000													8	72					0	0	1	0	0
TFAM	7019	broad.mit.edu	37	10	60148449	60148449	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:60148449G>T	ENST00000487519.1	+	4	837	c.311G>T	c.(310-312)aGg>aTg	p.R104M	TFAM_ENST00000373895.3_Missense_Mutation_p.R104M|TFAM_ENST00000373899.3_3'UTR	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	104					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GATGCTTATAGGGCGGAGTGG	0.368000													26	78					2.08457e-15	2.88501e-15	1	1	0
SETDB2	83852	broad.mit.edu	37	13	50059826	50059826	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr13:50059826G>A	ENST00000354234.4	+	11	2449	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	SETDB2_ENST00000317257.8_Missense_Mutation_p.E527K|SETDB2_ENST00000258672.5_Missense_Mutation_p.E515K	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	527	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ACCACCCCGAGAGCATCTGAA	0.423000													11	62					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91632198	91632198	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:91632198A>T	ENST00000359028.2	+	9	3228	c.3003A>T	c.(3001-3003)caA>caT	p.Q1001H	AKAP9_ENST00000356239.3_Missense_Mutation_p.Q989H|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q1001H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1001	Glu-rich.			Q -> P (in Ref. 1; AAB86384 and 2; CAB40713).	G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAAGAACAAGTTTCATTGA	0.338000			T	BRAF	papillary thyroid								10	69					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18882133	18882133	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:18882133C>A	ENST00000388995.6	-	5	1069	c.846G>T	c.(844-846)cgG>cgT	p.R282R	SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Silent_p.R282R|FAM83G_ENST00000345041.4_Silent_p.R282R|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	282										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AGATCACATTCCGGTCCGTCC	0.637000													20	63					6.33239e-15	8.74596e-15	1	1	0
TRPM8	79054	broad.mit.edu	37	2	234835184	234835184	+	Translation_Start_Site	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:234835184T>C	ENST00000324695.4	+	2	42	c.2T>C	c.(1-3)aTg>aCg	p.M1T	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ACAGAAAAGATGTCCTTTCGG	0.542000													14	70					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38616821	38616821	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:38616821G>C	ENST00000413689.1	-	20	3826	c.3633C>G	c.(3631-3633)atC>atG	p.I1211M	SCN5A_ENST00000451551.2_Missense_Mutation_p.I1157M|SCN5A_ENST00000425664.1_Missense_Mutation_p.I1211M|SCN5A_ENST00000443581.1_Missense_Mutation_p.I1210M|SCN5A_ENST00000449557.2_Missense_Mutation_p.I1157M|SCN5A_ENST00000450102.2_Missense_Mutation_p.I1157M|SCN5A_ENST00000333535.4_Missense_Mutation_p.I1211M|SCN5A_ENST00000423572.2_Missense_Mutation_p.I1210M|SCN5A_ENST00000455624.2_Missense_Mutation_p.I1210M|SCN5A_ENST00000414099.2_Missense_Mutation_p.I1211M	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1211					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCATGAAGATGATGAATGTCT	0.617000													12	12					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10535154	10535154	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:10535154C>G	ENST00000583535.1	-	35	5223	c.5136G>C	c.(5134-5136)gaG>gaC	p.E1712D	MYH3_ENST00000226209.7_Missense_Mutation_p.E1712D	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1712					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTGCACCCTCTCGTTGGAGT	0.637000													13	71					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155265539	155265539	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:155265539G>T	ENST00000392825.3	+	11	1907	c.1340G>T	c.(1339-1341)cGc>cTc	p.R447L	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.R447L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	447	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AACATGGGCCGCAAGGAAAAT	0.363000													5	40					8.12818e-05	9.01052e-05	1	1	0
CNOT6	57472	broad.mit.edu	37	5	179994113	179994113	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:179994113G>T	ENST00000393356.1	+	10	1167	c.743G>T	c.(742-744)aGt>aTt	p.S248I	CNOT6_ENST00000261951.4_Missense_Mutation_p.S248I			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	248					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CAGTATTACAGTTTTTTTCTG	0.348000													12	70					1.49906e-05	1.70382e-05	1	1	0
AIPL1	23746	broad.mit.edu	37	17	6338338	6338338	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:6338338G>A	ENST00000381129.3	-	1	167	c.87C>T	c.(85-87)acC>acT	p.T29T	AIPL1_ENST00000250087.5_Silent_p.T29T|AIPL1_ENST00000576776.1_Silent_p.T29T|AIPL1_ENST00000575265.1_Silent_p.T29T|AIPL1_ENST00000574506.1_Silent_p.T29T|AIPL1_ENST00000571740.1_Silent_p.T29T|AIPL1_ENST00000570466.1_Silent_p.T29T|AIPL1_ENST00000576307.1_Silent_p.T29T	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	29					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CTCGGGATCCGGTGATGAAGT	0.597000													12	49					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131761266	131761266	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:131761266G>T	ENST00000368648.3	-	3	367	c.295C>A	c.(295-297)Cca>Aca	p.P99T	EBF3_ENST00000355311.5_Missense_Mutation_p.P99T	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	99					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCGTTGTTTGGCTCCTGAAAG	0.567000													33	87					4.39465e-27	6.34259e-27	1	1	0
OR7G2	390882	broad.mit.edu	37	19	9213806	9213806	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:9213806G>T	ENST00000305456.2	-	1	176	c.177C>A	c.(175-177)acC>acA	p.T59T		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TCCCCAGGATGGTGACCAAGT	0.498000													33	69					1.45844e-13	1.97784e-13	1	1	0
COL1A1	1277	broad.mit.edu	37	17	48268221	48268221	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:48268221C>A	ENST00000225964.5	-	33	2418	c.2300G>T	c.(2299-2301)gGc>gTc	p.G767V		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	767	Triple-helical region.		G -> S (in OI3; severe).		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)	ACCAATGGGGCCAGTCAGACC	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						13	68					1.5842e-08	1.98836e-08	1	1	0
HERC4	26091	broad.mit.edu	37	10	69714793	69714793	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:69714793C>G	ENST00000395198.3	-	19	2391	c.2144G>C	c.(2143-2145)aGa>aCa	p.R715T	HERC4_ENST00000277817.6_Missense_Mutation_p.R605T|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Missense_Mutation_p.R707T|HERC4_ENST00000412272.2_Missense_Mutation_p.R715T|HERC4_ENST00000480158.1_5'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	715					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AATATTTTCTCTACGCACCAC	0.398000													24	45					0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227075801	227075801	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:227075801G>T	ENST00000366782.1	+	7	1107	c.607G>T	c.(607-609)Ggc>Tgc	p.G203C	PSEN2_ENST00000391872.2_Missense_Mutation_p.G203C|PSEN2_ENST00000422240.2_Missense_Mutation_p.G170C|PSEN2_ENST00000366783.3_Missense_Mutation_p.G170C|PSEN2_ENST00000472139.2_Missense_Mutation_p.G26C|PSEN2_ENST00000340188.4_Missense_Mutation_p.G170C			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	170					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GTTCATCCATGGCTGGTTGAT	0.512000													8	73					1.12685e-05	1.28511e-05	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107818513	107818513	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:107818513C>A	ENST00000379028.3	-	26	3366	c.2896G>T	c.(2896-2898)Gac>Tac	p.D966Y	NRCAM_ENST00000425651.2_Missense_Mutation_p.D966Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.D950Y|NRCAM_ENST00000413765.2_Missense_Mutation_p.D947Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.D966Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.D947Y			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	966	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GTGAGAGAGTCCAGTGTTGGA	0.443000													12	49					2.27111e-07	2.74817e-07	1	1	0
MCM6	4175	broad.mit.edu	37	2	136620241	136620241	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:136620241G>T	ENST00000264156.2	-	8	1216	c.1156C>A	c.(1156-1158)Ctt>Att	p.L386I	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	386	MCM.			PKTTGEGTSLR -> SKDNRRRDLSS (in Ref. 2; AAC50766).	cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCCCCTCGAAGAGAGGTCCCT	0.453000													11	111					0.00185496	0.00196579	1	1	0
C2CD2L	9854	broad.mit.edu	37	11	118985022	118985022	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:118985022C>T	ENST00000336702.3	+	13	2218	c.1859C>T	c.(1858-1860)tCg>tTg	p.S620L	C2CD2L_ENST00000528586.1_Missense_Mutation_p.S367L	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	619						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GATATTGAGTCGGAAACGGGG	0.552000													23	137					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32048715	32048715	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:32048715C>T	ENST00000438447.1	+	8	1978	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	PDZD2_ENST00000282493.3_Silent_p.I530I			O15018	PDZD2_HUMAN	PDZ domain containing 2	530					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACCCCCGGATCCGGATGTTGG	0.552000													9	51					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140938298	140938298	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:140938298G>T	ENST00000277549.5	+	21	3504	c.935G>T	c.(934-936)gGc>gTc	p.G312V	CACNA1B_ENST00000371363.1_Missense_Mutation_p.G1120V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G1121V|CACNA1B_ENST00000545473.1_Missense_Mutation_p.G146V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G1121V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G1120V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.G1120V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1120					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ATGAGGAGCGGCCCCCGGCCT	0.597000													60	181					6.20203e-27	8.93199e-27	1	1	0
RPSA	3921	broad.mit.edu	37	3	39453811	39453811	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:39453811C>T	ENST00000301821.6	+	7	949	c.840C>T	c.(838-840)ccC>ccT	p.P280P	RPSA_ENST00000443003.1_Silent_p.P285P|RPSA_ENST00000478027.1_3'UTR	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	280	Laminin-binding.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTGCAGCTCCCACTGCTCAGG	0.473000													7	31					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48764762	48764762	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:48764762C>A	ENST00000316623.5	-	35	4777	c.4322G>T	c.(4321-4323)gGg>gTg	p.G1441V		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1441	EGF-like 24; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGGCTTTCCCGTCAGCACT	0.493000													18	121					2.94398e-08	3.64751e-08	1	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971056	21971056	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:21971056C>A	ENST00000304494.5	-	2	572	c.302G>T	c.(301-303)gGg>gTg	p.G101V	CDKN2A_ENST00000494262.1_Missense_Mutation_p.G50V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.G101V|CDKN2A_ENST00000361570.3_Silent_p.R156R|CDKN2A_ENST00000497750.1_Missense_Mutation_p.G50V|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G101V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G101V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.G50V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.G50V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.G50V|CDKN2A_ENST00000579755.1_Silent_p.R115R|CDKN2A_ENST00000530628.2_Silent_p.R115R|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	101			G -> W (in CMM2 and FAMMMPC; impairs the function).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.A102fs*18(1)|p.0(1)|p.G101fs*17(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.A102fs*42(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGCCGCGCCCCGGCCCGGTG	0.751000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			14	26					0.000422831	0.000458919	1	1	0
CCDC80	151887	broad.mit.edu	37	3	112357597	112357597	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:112357597T>C	ENST00000206423.3	-	2	2109	c.1156A>G	c.(1156-1158)Agg>Ggg	p.R386G	CCDC80_ENST00000439685.2_Missense_Mutation_p.R386G	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	386	Thr-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GTCCAGGGCCTCTGCGTGGTG	0.612000													17	76					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44147457	44147457	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:44147457G>A	ENST00000223357.3	+	5	1094	c.789G>A	c.(787-789)agG>agA	p.R263R		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	263	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CAAGCAGAAGGAGGAGGCCCG	0.682000													7	37					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34804068	34804068	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:34804068C>A	ENST00000192788.5	+	8	1147	c.976C>A	c.(976-978)Ctg>Atg	p.L326M	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L326M	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	326										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTCCTACCATCTGCTCATCTC	0.587000													11	178					3.07112e-06	3.55659e-06	1	1	0
TGFBR1	7046	broad.mit.edu	37	9	101907035	101907035	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:101907035G>C	ENST00000374994.4	+	6	1112	c.995G>C	c.(994-996)aGa>aCa	p.R332T	TGFBR1_ENST00000374990.2_Missense_Mutation_p.R255T|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R263T|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R336T	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	332	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ATTGCTCATAGAGATTTGAAA	0.358000													12	56					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6647021	6647021	+	Missense_Mutation	SNP	C	C	T	rs11549316		TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:6647021C>T	ENST00000229239.5	+	8	1463	c.797C>T	c.(796-798)tCg>tTg	p.S266L	GAPDH_ENST00000396861.1_Missense_Mutation_p.S266L|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396856.1_Missense_Mutation_p.S191L|GAPDH_ENST00000396858.1_Missense_Mutation_p.S224L|GAPDH_ENST00000396859.1_Missense_Mutation_p.S266L	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	266					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	AAGCAGGCGTCGGAGGGCCCC	0.582000											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	52					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292526	6292526	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:6292526C>G	ENST00000525462.1	+	4	1307	c.1304C>G	c.(1303-1305)gCa>gGa	p.A435G	CCKBR_ENST00000532715.1_Missense_Mutation_p.A282G|CCKBR_ENST00000334619.2_Missense_Mutation_p.A366G			P32239	GASR_HUMAN	cholecystokinin B receptor	366					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCACACCGAGCACTCTCGGGT	0.557000													13	133					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165177307	165177307	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:165177307C>T	ENST00000342310.3	-	7	1192	c.810G>A	c.(808-810)ctG>ctA	p.L270L	LMX1A_ENST00000367893.4_Silent_p.L270L|LMX1A_ENST00000294816.2_Silent_p.L270L|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	270	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TACCAGAGCTCAGCCTCTGGG	0.557000													5	27					0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103343412	103343412	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:103343412C>A	ENST00000258436.5	-	4	362	c.319G>T	c.(319-321)Gga>Tga	p.G107*		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	107					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GACCGTCTTCCCACTACATCG	0.502000													7	50					8.12818e-05	9.01052e-05	1	1	0
B3GALT2	8707	broad.mit.edu	37	1	193149438	193149438	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:193149438G>T	ENST00000367434.4	-	2	2010	c.1255C>A	c.(1255-1257)Cgt>Agt	p.R419S	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	419					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TGTAGTTTACGGTGGCGATAC	0.368000													9	74					0.000442599	0.000476537	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181767568	181767568	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:181767568C>A	ENST00000526775.1	+	46	6519	c.6354C>A	c.(6352-6354)ggC>ggA	p.G2118G	CACNA1E_ENST00000360108.3_Silent_p.G2161G|CACNA1E_ENST00000367573.2_Silent_p.G2180G|CACNA1E_ENST00000367567.4_Silent_p.G1744G|CACNA1E_ENST00000358338.5_Silent_p.G2069G|CACNA1E_ENST00000357570.5_Silent_p.G2131G|CACNA1E_ENST00000367570.1_Silent_p.G2137G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2180					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GACACGCGGGCAGCATCTCTC	0.627000													14	91					0.000219431	0.000240483	1	1	0
NGFRAP1	27018	broad.mit.edu	37	X	102632636	102632636	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:102632636G>C	ENST00000361298.4	+	3	552	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	NGFRAP1_ENST00000299872.7_Missense_Mutation_p.E73Q|NGFRAP1_ENST00000372645.3_Missense_Mutation_p.E73Q|NGFRAP1_ENST00000372634.1_Missense_Mutation_p.E63Q|NGFRAP1_ENST00000372635.1_Missense_Mutation_p.E73Q	NM_206915.1|NM_206917.1	NP_996798.1|NP_996800.1	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	73					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						ATTCATGGAGGAGATGAGAGA	0.468000													29	146					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27373006	27373006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:27373006G>T	ENST00000296096.5	+	2	368	c.238G>T	c.(238-240)Gag>Tag	p.E80*		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	80					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCAGTCCTGAGAATGCCGC	0.657000													10	63					0.000442599	0.000476537	1	1	0
RNF213	57674	broad.mit.edu	37	17	78293205	78293205	+	Silent	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:78293205C>G	ENST00000319921.4	+	17	3258	c.3117C>G	c.(3115-3117)ctC>ctG	p.L1039L	RNF213_ENST00000508628.2_Intron|RNF213_ENST00000456466.1_Intron|RNF213_ENST00000582970.1_Intron	NM_020954.3	NP_066005.2	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGCTGGGTCTCAGCTCCTCCG	0.577000													6	78					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48685886	48685886	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:48685886C>T	ENST00000544264.1	-	20	7081	c.6801G>A	c.(6799-6801)ctG>ctA	p.L2267L	CELSR3_ENST00000164024.4_Silent_p.L2262L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2262					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)		AGCCGGCCCACAGCAGATTCT	0.642000													3	7					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20668396	20668396	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:20668396T>C	ENST00000404938.2	+	4	846	c.194T>C	c.(193-195)aTg>aCg	p.M65T		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	264	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTTCCTTTAATGCCACTGGTT	0.413000													8	19					0	0	1	0	0
CCDC59	29080	broad.mit.edu	37	12	82752003	82752003	+	Splice_Site	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:82752003C>A	ENST00000256151.7	-	1	564	c.154_splice	c.e1+1	p.E51_splice	CCDC59_ENST00000548126.1_Intron	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						CTTACATACCCTCGCGAACGC	0.502000													10	50					1.58986e-06	1.86684e-06	1	1	0
PHACTR3	116154	broad.mit.edu	37	20	58330261	58330261	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr20:58330261C>A	ENST00000371015.1	+	4	850	c.383C>A	c.(382-384)cCc>cAc	p.P128H	PHACTR3_ENST00000395636.2_Missense_Mutation_p.P87H|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P87H|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P87H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P87H|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P125H|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P87H	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	128						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			ACTTGCAACCCCGATGGAGGA	0.567000													5	37					8.12818e-05	9.01052e-05	1	1	0
DCDC1	341019	broad.mit.edu	37	11	30922020	30922020	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:30922020G>C	ENST00000597505.1	-	31	4526	c.4527C>G	c.(4525-4527)aaC>aaG	p.N1509K	DCDC1_ENST00000339794.5_Missense_Mutation_p.N588K|DCDC1_ENST00000406071.2_Missense_Mutation_p.N247K			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAAATAATCTGTTTTTCACTT	0.328000													3	9					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131370275	131370275	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:131370275G>C	ENST00000372739.3	+	33	4401	c.4291G>C	c.(4291-4293)Gag>Cag	p.E1431Q	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1431Q|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1431Q	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1431					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCAGACCTGGAGAAGGCCTG	0.532000													15	80					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77950852	77950852	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:77950852G>T	ENST00000393684.3	-	4	568	c.177C>A	c.(175-177)ctC>ctA	p.L59L	ISM2_ENST00000493585.1_Silent_p.L147L|ISM2_ENST00000412904.1_Intron|ISM2_ENST00000429906.1_Silent_p.L66L|ISM2_ENST00000342219.4_Silent_p.L147L			Q6H9L7	ISM2_HUMAN	isthmin 2	147	Poly-Glu.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGGTTCTGGGGAGCAGTCGTG	0.612000													10	47					7.48243e-07	8.84764e-07	1	1	0
LONRF1	91694	broad.mit.edu	37	8	12595582	12595582	+	Silent	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:12595582T>C	ENST00000398246.3	-	4	1104	c.1035A>G	c.(1033-1035)ccA>ccG	p.P345P	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	345					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TTTTAGTACATGGTAATGAAC	0.358000													7	31					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62800643	62800643	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:62800643C>T	ENST00000512091.1	+	13	2741	c.1994C>T	c.(1993-1995)gCg>gTg	p.A665V	LPHN3_ENST00000508946.1_Missense_Mutation_p.A665V|LPHN3_ENST00000506746.1_Missense_Mutation_p.A733V|LPHN3_ENST00000504896.1_Missense_Mutation_p.A665V|LPHN3_ENST00000509896.1_Missense_Mutation_p.A733V|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000545650.1_Missense_Mutation_p.A665V|LPHN3_ENST00000507625.1_Missense_Mutation_p.A733V|LPHN3_ENST00000514996.1_Missense_Mutation_p.A665V|LPHN3_ENST00000514591.1_Missense_Mutation_p.A665V|LPHN3_ENST00000508693.1_Missense_Mutation_p.A733V|LPHN3_ENST00000514157.1_Missense_Mutation_p.A665V|LPHN3_ENST00000506720.1_Missense_Mutation_p.A733V|LPHN3_ENST00000507164.1_Missense_Mutation_p.A733V|LPHN3_ENST00000506700.1_Missense_Mutation_p.A665V|LPHN3_ENST00000511324.1_Missense_Mutation_p.A733V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	652					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.A665V(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAGCTGCGTGCGGCCACCATG	0.463000													4	26					0	0	1	0	0
ZNF500	26048	broad.mit.edu	37	16	4815785	4815785	+	Silent	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:4815785C>G	ENST00000219478.6	-	2	494	c.195G>C	c.(193-195)cgG>cgC	p.R65R	ZNF500_ENST00000545009.1_Silent_p.R65R			O60304	ZN500_HUMAN	zinc finger protein 500	65	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						TCAGGGCCTCCCGGGGCCCAG	0.687000													9	36					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33580975	33580975	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr20:33580975C>A	ENST00000262873.7	+	23	2472	c.2380C>A	c.(2380-2382)Ctg>Atg	p.L794M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	752	IQ.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CACAGAGAAACTGCTGGGCTC	0.607000													6	73					0.00116845	0.00124216	1	1	0
THPO	7066	broad.mit.edu	37	3	184090559	184090559	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:184090559G>T	ENST00000421442.2	-	6	687	c.688C>A	c.(688-690)Cct>Act	p.P230T	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Silent_p.T264T|THPO_ENST00000204615.7_Silent_p.T268T			P40225	TPO_HUMAN	thrombopoietin	0					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGCTCCTAGGGTCCTGCGTG	0.562000													14	189					0.000422831	0.000458919	1	1	0
SLC27A6	28965	broad.mit.edu	37	5	128351749	128351749	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:128351749G>T	ENST00000262462.4	+	5	2151	c.1141G>T	c.(1141-1143)Ggg>Tgg	p.G381W	SLC27A6_ENST00000506176.1_Missense_Mutation_p.G381W|SLC27A6_ENST00000395266.1_Missense_Mutation_p.G381W			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	381					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGGAGCAATTGGGAGAACAAA	0.373000													19	94					2.89027e-11	3.81221e-11	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48790311	48790311	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:48790311T>G	ENST00000314191.2	-	41	5390	c.5334A>C	c.(5332-5334)caA>caC	p.Q1778H	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Q1778H	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1779					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGAAACTGGATTGAAATAATT	0.418000								Non-homologous end-joining					15	105					0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223067	35223067	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:35223067G>C	ENST00000338513.1	+	2	309	c.136G>C	c.(136-138)Gat>Cat	p.D46H		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	46					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TGTGTGGAGTGATGACCACAA	0.587000													9	56					0	0	1	0	0
POMK	84197	broad.mit.edu	37	8	42977912	42977912	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:42977912C>T	ENST00000331373.5	+	5	1200	c.945C>T	c.(943-945)agC>agT	p.S315S		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		315	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										CATGCAAGAGCCAGACTCCCT	0.483000													26	66					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36714552	36714552	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:36714552C>A	ENST00000264659.7	-	11	2336	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H	SRCIN1_ENST00000578925.1_Missense_Mutation_p.Q738H|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	576					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCGGGTCCTCCTGCCGCCGCG	0.677000											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	44					0.000308642	0.000336066	1	1	0
MDM1	56890	broad.mit.edu	37	12	68715335	68715335	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:68715335T>A	ENST00000303145.7	-	6	961	c.875A>T	c.(874-876)aAg>aTg	p.K292M	MDM1_ENST00000411698.2_Missense_Mutation_p.K247M|MDM1_ENST00000540418.1_Missense_Mutation_p.K12M	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	292						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		AGGAGTAAGCTTCCTTTTAGG	0.299000													5	22					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43773548	43773548	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:43773548G>A	ENST00000244293.7	-	1	102	c.36C>T	c.(34-36)cgC>cgT	p.R12R	PSG9_ENST00000443718.3_Silent_p.R12R|PSG9_ENST00000418820.2_Silent_p.R12R|PSG9_ENST00000596730.1_Silent_p.R12R|PSG9_ENST00000270077.3_Silent_p.R12R|PSG9_ENST00000291752.5_Silent_p.R12R|PSG9_ENST00000593948.1_Silent_p.R12R			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	12					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)				TCCAGGTGATGCGCTGTGTGC	0.617000													42	142					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638667	179638667	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:179638667G>C	ENST00000589042.1	-	31	7452	c.7228C>G	c.(7228-7230)Cat>Gat	p.H2410D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H2364D|TTN_ENST00000359218.5_Missense_Mutation_p.H2364D|TTN_ENST00000342992.6_Missense_Mutation_p.H2410D|TTN_ENST00000342175.6_Missense_Mutation_p.H2364D|TTN_ENST00000360870.5_Missense_Mutation_p.H2410D|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H2410D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2133	Ig-like 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.H2364D(3)|p.H2410D(3)		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)			AGCAGCATATGAGATTGTTTG	0.478000													7	102					0	0	1	0	0
SGTB	54557	broad.mit.edu	37	5	65000188	65000188	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:65000188C>T	ENST00000381007.4	-	5	527	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	98							binding			large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TAATTTTCTTCTTTCATGTGG	0.323000													4	38					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14976702	14976702	+	Splice_Site	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:14976702C>A	ENST00000453695.2	-	7	621	c.177_splice	c.e7+1	p.R59_splice	DCLRE1C_ENST00000396817.2_Splice_Site_p.R59_splice|DCLRE1C_ENST00000357717.2_Splice_Site_p.R64_splice|DCLRE1C_ENST00000378254.1_Splice_Site_p.R59_splice|DCLRE1C_ENST00000378246.2_Splice_Site_p.R64_splice|DCLRE1C_ENST00000378289.4_Splice_Site_p.R179_splice|DCLRE1C_ENST00000378278.2_Splice_Site_p.R179_splice|DCLRE1C_ENST00000378249.1_Splice_Site_p.R64_splice|DCLRE1C_ENST00000378258.1_Splice_Site_p.R59_splice|DCLRE1C_ENST00000378255.1_Splice_Site_p.R59_splice	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	179					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GCAGACTTACCCGACTTGGAA	0.423000								Non-homologous end-joining					24	120					2.14196e-07	2.61063e-07	1	1	0
SCUBE1	80274	broad.mit.edu	37	22	43603584	43603584	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr22:43603584C>T	ENST00000360835.3	-	21	2896	c.2770G>A	c.(2770-2772)Gat>Aat	p.D924N		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	924					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGGCGCCCATCGCGCACGATG	0.582000													7	55					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52798536	52798536	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:52798536G>A	ENST00000287727.3	+	14	3707	c.3535G>A	c.(3535-3537)Gat>Aat	p.D1179N	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D1179N|ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D1120N	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1179					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGTACAGAATGATGATGGAAA	0.428000													5	41					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95539200	95539200	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:95539200T>A	ENST00000297591.5	-	8	1347	c.1272A>T	c.(1270-1272)aaA>aaT	p.K424N	KIAA1429_ENST00000437199.1_Missense_Mutation_p.K424N|KIAA1429_ENST00000421249.2_Missense_Mutation_p.K424N	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	424					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GGGAGTCTTGTTTTGTGTTTT	0.383000													7	76					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	614005	614005	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:614005C>A	ENST00000409413.3	+	2	990	c.711C>A	c.(709-711)gcC>gcA	p.A237A		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	237	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTTCCTGGCCTCGGCCAGCC	0.726000													3	14					0.115264	0.116649	1	1	0
SI	6476	broad.mit.edu	37	3	164737533	164737533	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:164737533C>A	ENST00000264382.3	-	28	3342	c.3280G>T	c.(3280-3282)Gct>Tct	p.A1094S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1094	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCATTAAAAGCAAATCCAGGC	0.358000										HNSCC(35;0.089)			11	39					1.08611e-07	1.32856e-07	1	1	0
C1RL	51279	broad.mit.edu	37	12	7249480	7249480	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:7249480A>T	ENST00000266542.4	-	6	1063	c.971T>A	c.(970-972)gTg>gAg	p.V324E	C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	324	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCGGGGTGCACAACGACACG	0.577000													7	86					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064498	7064498	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:7064498G>T	ENST00000299481.4	+	4	1587	c.1241G>T	c.(1240-1242)gGc>gTc	p.G414V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	414	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTAGATGGAGGCTCTCCTAGT	0.468000													22	142					1.50039e-11	1.99068e-11	1	1	0
SPTBN2	6712	broad.mit.edu	37	11	66453366	66453366	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:66453366G>A	ENST00000533211.1	-	38	7480	c.7149C>T	c.(7147-7149)ttC>ttT	p.F2383F	SPTBN2_ENST00000529997.1_3'UTR|SPTBN2_ENST00000309996.2_Silent_p.F2383F			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2383					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TAAAGAAGCTGAAGCGTTTTT	0.612000													36	112					0	0	1	0	0
C1orf110	339512	broad.mit.edu	37	1	162824951	162824951	+	Silent	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:162824951G>C	ENST00000367912.1	-	4	684	c.510C>G	c.(508-510)ccC>ccG	p.P170P	C1orf110_ENST00000367911.2_Silent_p.P166P|C1orf110_ENST00000367910.1_Silent_p.P171P|C1orf110_ENST00000524691.1_Intron			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	171										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TGCCCTTGCTGGGGTCTACGT	0.468000													22	145					0	0	1	0	0
C17orf75	64149	broad.mit.edu	37	17	30668304	30668304	+	Splice_Site	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:30668304C>A	ENST00000577809.1	-	2	190		c.e2-1		C17orf75_ENST00000225805.4_Splice_Site|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75						spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CTGTGCCAATCTACAAGCCAC	0.478000													8	80					4.68919e-08	5.78849e-08	1	1	0
C16orf46	123775	broad.mit.edu	37	16	81095499	81095499	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:81095499A>C	ENST00000378611.4	-	3	570	c.455T>G	c.(454-456)tTt>tGt	p.F152C	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Missense_Mutation_p.F152C	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	152										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GTAGGTGGGAAAGCAGATGTC	0.567000													28	234					0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87492307	87492307	+	Splice_Site	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:87492307T>A	ENST00000296595.6	-	12	1311		c.e12-2		TMEM161B_ENST00000514135.1_Splice_Site|TMEM161B_ENST00000506536.1_Splice_Site|TMEM161B_ENST00000512429.1_Splice_Site|TMEM161B_ENST00000511218.1_Splice_Site|TMEM161B_ENST00000515293.1_Splice_Site	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B							integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AATGATTACCTAGAAAATCAA	0.299000													7	33					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37465272	37465272	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr22:37465272C>T	ENST00000381792.2	-	16	2094	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E652K|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E652K|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E661K			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	661	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGTCCTCTTCGTGGTACGGG	0.692000													3	17					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15367042	15367042	+	Silent	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:15367042G>C	ENST00000263377.2	-	9	1805	c.1584C>G	c.(1582-1584)ctC>ctG	p.L528L	BRD4_ENST00000371835.4_Silent_p.L528L|BRD4_ENST00000360016.5_Silent_p.L528L|BRD4_ENST00000602230.1_5'UTR	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	528					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGGCTGAGAGAGGGCTGCAA	0.483000			T	C15orf55	lethal midline carcinoma of young people								19	105					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236877218	236877218	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:236877218G>A	ENST00000409538.1	+	12	2728	c.2232G>A	c.(2230-2232)aaG>aaA	p.K744K	AGAP1_ENST00000304032.7_Silent_p.K532K|AGAP1_ENST00000428334.2_Silent_p.K371K|AGAP1_ENST00000336665.5_Silent_p.K479K			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	532					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACCGAAGGAAGAAAAGCACTA	0.607000													12	59					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68224927	68224927	+	Silent	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:68224927T>A	ENST00000349223.5	+	9	2579	c.2355T>A	c.(2353-2355)atT>atA	p.I785I	NFATC3_ENST00000575270.1_Silent_p.I785I|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.I785I|NFATC3_ENST00000329524.4_Silent_p.I785I	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	785					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTTCTCCAATTGTACACCAGC	0.443000													28	114					0	0	1	0	0
SUCLG1	8802	broad.mit.edu	37	2	84658657	84658657	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:84658657G>A	ENST00000393868.2	-	7	1010	c.800C>T	c.(799-801)gCa>gTa	p.A267V	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	267					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CAAAAATTCTGCAGCATTCTC	0.343000													5	70					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93600441	93600441	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:93600441G>A	ENST00000371627.4	+	14	2030	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	551					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCATGGAGCTGATGTGCATGC	0.413000													14	139					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44273706	44273706	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:44273706C>G	ENST00000262888.3	-	6	1332	c.937G>C	c.(937-939)Gag>Cag	p.E313Q		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	313	Calmodulin-binding.				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GCAGCGGACTCCTTCATCTGG	0.597000													13	120					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112622471	112622471	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:112622471G>A	ENST00000550722.1	-	61	10256	c.9861C>T	c.(9859-9861)taC>taT	p.Y3287Y	HECTD4_ENST00000377560.5_Silent_p.Y3261Y|HECTD4_ENST00000430131.2_Silent_p.Y3011Y	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCAGCGGGATGTAGATCTCGT	0.627000													24	121					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107626474	107626474	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:107626474C>A	ENST00000393561.1	-	5	925	c.741G>T	c.(739-741)agG>agT	p.R247S	LAMB1_ENST00000393560.1_Missense_Mutation_p.R223S|LAMB1_ENST00000222399.6_Missense_Mutation_p.R223S			P07942	LAMB1_HUMAN	laminin, beta 1	223	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACTCTGTATCCTTGGGCTAT	0.338000													4	42					0.150653	0.151779	1	1	0
PAOX	196743	broad.mit.edu	37	10	135204976	135204976	+	Silent	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:135204976C>G	ENST00000357296.3	+	6	1451	c.1395C>G	c.(1393-1395)ctC>ctG	p.L465L	PAOX_ENST00000278060.5_3'UTR|PAOX_ENST00000480071.2_3'UTR|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|RP11-108K14.8_ENST00000468317.2_Intron	NM_207128.1	NP_997011.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	0					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CCAGCCTACTCTGTTCCACCC	0.607000													6	63					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28575267	28575267	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:28575267A>G	ENST00000220562.4	+	3	2593	c.1691A>G	c.(1690-1692)gAc>gGc	p.D564G	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.D180G	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	564						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCTGGAACTGACCCCAACATG	0.627000													7	57					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187440305	187440305	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:187440305T>C	ENST00000406870.2	-	10	2428	c.2062A>G	c.(2062-2064)Aag>Gag	p.K688E	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.K632E|BCL6_ENST00000232014.4_Missense_Mutation_p.K688E|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	688					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TATTGCACCTTGGTGTTGGTG	0.557000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								7	101					0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67432765	67432765	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:67432765G>T	ENST00000349015.3	-	7	1135	c.697C>A	c.(697-699)Cgc>Agc	p.R233S	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R233S	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	233					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CCGATGTAGCGATCGCTCTCG	0.642000													46	102					3.39706e-21	4.83041e-21	1	1	0
ATG9B	285973	broad.mit.edu	37	7	150718344	150718344	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:150718344G>A	ENST00000444312.1	-	5	969	c.107C>T	c.(106-108)gCt>gTt	p.A36V	ATG9B_ENST00000377974.2_Silent_p.R298R|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Silent_p.R298R|ATG9B_ENST00000605952.1_Silent_p.R298R			Q674R7	ATG9B_HUMAN	autophagy related 9B	56	Pro-rich.				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGACTGAGCGAAGCAGTT	0.647000													14	116					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109698493	109698493	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:109698493C>T	ENST00000465301.2	+	4	4357	c.4111C>T	c.(4111-4113)Cat>Tat	p.H1371Y	RGAG1_ENST00000540313.1_Missense_Mutation_p.H1371Y	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1371										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGAAGGTCTTCATGATCACCT	0.483000													16	131					0	0	1	0	0
YY2	404281	broad.mit.edu	37	X	21875589	21875589	+	Silent	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:21875589C>G	ENST00000429584.2	+	1	1485	c.987C>G	c.(985-987)cgC>cgG	p.R329R	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	329	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TCAATTTGCGCACACACTTGC	0.532000													96	342					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113318241	113318241	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:113318241C>A	ENST00000297405.5	-	51	8310	c.8066G>T	c.(8065-8067)tGt>tTt	p.C2689F	CSMD3_ENST00000343508.3_Missense_Mutation_p.C2649F|CSMD3_ENST00000352409.3_Missense_Mutation_p.C2619F|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2585F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2689	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATACCAACACAGCGAGGGGT	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	100					6.72482e-11	8.81815e-11	1	1	0
MTNR1A	4543	broad.mit.edu	37	4	187455012	187455012	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:187455012T>C	ENST00000307161.5	-	2	1085	c.884A>G	c.(883-885)tAc>tGc	p.Y295C	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	295					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CAGTAGCCCGTATATAATGGC	0.507000													19	82					0	0	1	0	0
CYP2R1	120227	broad.mit.edu	37	11	14901869	14901869	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:14901869C>G	ENST00000532378.1	-	4	968	c.114G>C	c.(112-114)caG>caC	p.Q38H	CYP2R1_ENST00000334636.5_Missense_Mutation_p.Q271H|CYP2R1_ENST00000526489.1_5'UTR			Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	271					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	p.Q271Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GCTGAGGTAGCTGAGGCTTTC	0.378000													4	47					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216011375	216011375	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:216011375G>T	ENST00000366943.2	-	47	9715	c.9329C>A	c.(9328-9330)cCa>cAa	p.P3110Q	USH2A_ENST00000307340.3_Missense_Mutation_p.P3110Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3110	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATATCACTTGGAGTGTCTTC	0.363000										HNSCC(13;0.011)			6	76					1.06961e-07	1.31315e-07	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43825162	43825162	+	Silent	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:43825162A>G	ENST00000389420.3	-	22	3233	c.3234T>C	c.(3232-3234)gcT>gcC	p.A1078A	ADAMTS20_ENST00000395541.2_Silent_p.A232A|ADAMTS20_ENST00000553158.1_Silent_p.A1078A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1078	TSP type-1 6.					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)		CTTGCCAGGAAGCACATGTAT	0.388000													8	63					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121682711	121682711	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:121682711C>A	ENST00000393386.2	+	22	6262	c.5851C>A	c.(5851-5853)Cag>Aag	p.Q1951K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Q1084K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1951	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAGTATGTTGCAGCAGATTCA	0.333000													17	37					3.41278e-10	4.44916e-10	1	1	0
LRRC27	80313	broad.mit.edu	37	10	134174993	134174993	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:134174993G>A	ENST00000368610.3	+	8	1017	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368612.1_Silent_p.L339L|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368614.3_Silent_p.L401L|LRRC27_ENST00000368613.4_Silent_p.L401L|LRRC27_ENST00000432555.2_Silent_p.L274L			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	401										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CCACAGATCTGATAGATAACA	0.418000													12	129					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30105610	30105610	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:30105610T>C	ENST00000331968.5	-	7	1305	c.1076A>G	c.(1075-1077)gAt>gGt	p.D359G	PRKD1_ENST00000415220.2_Missense_Mutation_p.D367G	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	359					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTCTTCCATATCATCCATGAG	0.502000													17	124					0	0	1	0	0
GATAD1	57798	broad.mit.edu	37	7	92085764	92085764	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:92085764G>T	ENST00000287957.3	+	5	975	c.698G>T	c.(697-699)cGg>cTg	p.R233L		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	233							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCAAGTCACGGTCATCACCA	0.473000													33	130					2.49991e-28	3.61576e-28	1	1	0
TCN1	6947	broad.mit.edu	37	11	59620679	59620679	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:59620679G>T	ENST00000257264.3	-	8	1341	c.1237C>A	c.(1237-1239)Caa>Aaa	p.Q413K		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	413					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCTTACCTTGGCTCAGTGGT	0.522000													55	293					1.45723e-30	2.11675e-30	1	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535600	27535600	+	RNA	SNP	T	T	C	rs640284	by1000genomes	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:27535600T>C	ENST00000574842.1	+	0	255																											CACAGGTCAATTGCACATGGG	0.517000													9	159					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211242	78211242	+	RNA	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:78211242C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCCACAGCCTCTTTTCCTGCT	0.572000													33	258					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480844	140480844	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:140480844A>T	ENST00000231130.2	+	1	611	c.611A>T	c.(610-612)gAg>gTg	p.E204V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		204	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATCGGGAGGAGCAGCCGGAA	0.562000													20	67					0	0	1	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22446888	22446888	+	RNA	SNP	C	C	T	rs2075483	by1000genomes	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:22446888C>T	ENST00000390443.3	+	0	190																											CCGCCCAGCTCAAGGTCCTGC	0.532000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	119					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4714902	4714902	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:4714902G>A	ENST00000354582.6	+	21	2637	c.2287G>A	c.(2287-2289)Gat>Aat	p.D763N	ITPR1_ENST00000456211.2_Missense_Mutation_p.D748N|ITPR1_ENST00000443694.2_Missense_Mutation_p.D748N|ITPR1_ENST00000423119.2_Missense_Mutation_p.D763N|ITPR1_ENST00000357086.4_Missense_Mutation_p.D763N|ITPR1_ENST00000302640.8_Missense_Mutation_p.D748N|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	763					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCTGGATGTCGATCTCATTCT	0.547000													7	51					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82445624	82445624	+	Silent	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:82445624T>C	ENST00000370728.1	+	20	3726	c.3081T>C	c.(3079-3081)tcT>tcC	p.S1027S	LPHN2_ENST00000370713.1_Silent_p.S1014S|LPHN2_ENST00000319517.6_Silent_p.S1014S|LPHN2_ENST00000370727.1_Silent_p.S1027S|LPHN2_ENST00000359929.3_Silent_p.S1014S|LPHN2_ENST00000335786.5_Silent_p.S1027S|LPHN2_ENST00000370717.2_Silent_p.S1027S|LPHN2_ENST00000370715.1_Silent_p.S1014S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Silent_p.S1027S|LPHN2_ENST00000370721.1_Silent_p.S952S|LPHN2_ENST00000394879.1_Silent_p.S1014S|LPHN2_ENST00000370723.1_Silent_p.S1014S|LPHN2_ENST00000370730.1_Silent_p.S1027S|LPHN2_ENST00000370725.1_Silent_p.S1027S			O95490	LPHN2_HUMAN	latrophilin 2	1027					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACCAGATTCTAGCAGGTTGG	0.318000													5	34					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826671	143826671	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:143826671C>A	ENST00000408899.2	+	1	521	c.466C>A	c.(466-468)Ctg>Atg	p.L156M		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCTCCTGGCTCTGGTCCCTTT	0.547000													111	365					1.09008e-60	1.59374e-60	1	1	0
DLG2	1740	broad.mit.edu	37	11	84634151	84634151	+	Silent	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:84634151T>A	ENST00000398309.2	-	1	482	c.12A>T	c.(10-12)gcA>gcT	p.A4A	DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Silent_p.A4A|DLG2_ENST00000524982.1_Silent_p.A4A	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	4						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CACAGTAACATGCAAAGAACA	0.488000													12	36					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005278	1005278	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:1005278C>A	ENST00000234389.3	+	3	1797	c.1778C>A	c.(1777-1779)aCc>aAc	p.T593N	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	593					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CTCTTCCTCACCGTGTACGAG	0.662000													21	70					3.51602e-12	4.73013e-12	1	1	0
FOXP1	27086	broad.mit.edu	37	3	71021828	71021828	+	Splice_Site	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:71021828C>G	ENST00000318789.4	-	18	2056		c.e18-1		FOXP1_ENST00000491238.1_Splice_Site|FOXP1_ENST00000493089.1_Splice_Site|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000475937.1_Splice_Site|FOXP1_ENST00000498215.1_Splice_Site|FOXP1_ENST00000484350.1_Splice_Site	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GCACTGCATTCTGCAGCAAGT	0.368000			T	PAX5	ALL								5	35					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125592017	125592017	+	Silent	SNP	T	T	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:125592017T>G	ENST00000504087.1	-	4	3452	c.2415A>C	c.(2413-2415)gcA>gcC	p.A805A	ANKRD50_ENST00000515641.1_Silent_p.A626A	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	805										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TATCCACAGCTGCACCCCAAA	0.453000													15	64					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63987469	63987469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:63987469C>T	ENST00000279227.5	+	10	1293	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	FERMT3_ENST00000345728.5_Nonsense_Mutation_p.Q396*	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	400	FERM.|PH.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGACCCCATTCAGCAGCTCAA	0.617000													9	76					0	0	1	0	0
LOXL1	4016	broad.mit.edu	37	15	74219613	74219613	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:74219613C>G	ENST00000261921.7	+	1	815	c.489C>G	c.(487-489)ttC>ttG	p.F163L	LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	163					protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CTTCGGCCTTCGCCAGCACCT	0.721000													15	98					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114279	56114279	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:56114279C>G	ENST00000279783.2	+	1	859	c.765C>G	c.(763-765)atC>atG	p.I255M		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CAGTGGTGATCATGTTCTATG	0.403000										HNSCC(65;0.19)			7	38					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32662398	32662398	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:32662398G>T	ENST00000357033.4	-	11	1388	c.1182C>A	c.(1180-1182)ggC>ggA	p.G394G	DMD_ENST00000378677.2_Silent_p.G390G|DMD_ENST00000288447.4_Silent_p.G386G	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	394					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)				TACCAACCCGGCCCTGATGGG	0.383000													25	84					6.12954e-19	8.62486e-19	1	1	0
OR4S1	256148	broad.mit.edu	37	11	48328378	48328378	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:48328378G>T	ENST00000319988.1	+	1	604	c.604G>T	c.(604-606)Ggt>Tgt	p.G202C		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GGCCAACAGCGGTATGATTTC	0.458000													14	71					1.05317e-09	1.35984e-09	1	1	0
ITGAX	3687	broad.mit.edu	37	16	31371761	31371761	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:31371761G>A	ENST00000268296.4	+	8	959	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	ITGAX_ENST00000562522.1_Missense_Mutation_p.G280S	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	280	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGATGCAGCAGGCATCATCCG	0.527000													15	74					0	0	1	0	0
ABCF2	10061	broad.mit.edu	37	7	150919703	150919703	+	Splice_Site	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:150919703C>G	ENST00000287844.2	-	6	832		c.e6-1		ABCF2_ENST00000222388.2_Splice_Site	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2							ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAGAGGGCTCTGAAGGACGG	0.488000													5	55					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104741956	104741956	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:104741956G>C	ENST00000334877.4	+	16	2341	c.1807G>C	c.(1807-1809)Gaa>Caa	p.E603Q	KMT2E_ENST00000311117.3_Missense_Mutation_p.E603Q|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.E603Q					lysine (K)-specific methyltransferase 2E																		ACAAGCTTTGGAAAGGATCAG	0.338000													4	45					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73552670	73552670	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:73552670C>A	ENST00000339362.5	+	16	2709	c.2262C>A	c.(2260-2262)atC>atA	p.I754I	NEO1_ENST00000558964.1_Silent_p.I754I|NEO1_ENST00000560262.1_Silent_p.I754I|NEO1_ENST00000261908.6_Silent_p.I754I			Q92859	NEO1_HUMAN	neogenin 1	754	Fibronectin type-III 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTACTAGCATCGTAGTGAGCT	0.502000													6	63					0.00198382	0.00208921	1	1	0
ZBTB4	57659	broad.mit.edu	37	17	7369062	7369062	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:7369062C>T	ENST00000311403.4	-	3	1398	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	ZBTB4_ENST00000380599.4_Silent_p.T353T	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CTTCATGCTTCGTGCGGTACT	0.612000													13	50					0	0	1	0	0
PRRT2	112476	broad.mit.edu	37	16	29825686	29825686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:29825686C>A	ENST00000358758.7	+	3	1195	c.912C>A	c.(910-912)gaC>gaA	p.D304E	PRRT2_ENST00000567659.1_Missense_Mutation_p.D304E|PRRT2_ENST00000300797.6_3'UTR|AC009133.20_ENST00000569039.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	304					response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GGGACGTGGACGGGGCCCAGC	0.657000													14	179					2.23348e-06	2.59995e-06	1	1	0
TTLL4	9654	broad.mit.edu	37	2	219617610	219617610	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:219617610G>A	ENST00000392102.1	+	17	3441	c.3101G>A	c.(3100-3102)cGc>cAc	p.R1034H	TTLL4_ENST00000457313.1_Missense_Mutation_p.R869H|TTLL4_ENST00000258398.4_Missense_Mutation_p.R1034H|TTLL4_ENST00000442769.1_Missense_Mutation_p.R970H	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1034					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		ATCTCCTCTCGCTATCTCCGC	0.458000													23	103					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43858530	43858530	+	RNA	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:43858530C>A	ENST00000378009.4	+	0	407				CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CTTTGGGCCCCACAGCCCCCA	0.667000													17	64					1.33834e-09	1.72145e-09	1	1	0
RGAG1	57529	broad.mit.edu	37	X	109695611	109695611	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:109695611C>T	ENST00000465301.2	+	3	2012	c.1766C>T	c.(1765-1767)tCc>tTc	p.S589F	RGAG1_ENST00000540313.1_Missense_Mutation_p.S589F	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	589										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GGATCAACATCCACGCTGTTA	0.502000													5	59					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103317655	103317655	+	Silent	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:103317655G>C	ENST00000233969.2	+	8	1855	c.1713G>C	c.(1711-1713)ggG>ggC	p.G571G	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	571						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CAGAGACTGGGATGATAAGTA	0.338000													8	32					0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19983547	19983547	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:19983547C>A	ENST00000379687.3	-	3	922	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	CXorf23_ENST00000356980.3_Missense_Mutation_p.D297Y|CXorf23_ENST00000379682.4_Missense_Mutation_p.D297Y	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	297						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GTTCTCCCATCAGAAAAGTCC	0.418000													6	94					3.59834e-05	4.04888e-05	1	1	0
MOSPD2	158747	broad.mit.edu	37	X	14934424	14934424	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:14934424C>A	ENST00000380492.3	+	13	1380	c.1292C>A	c.(1291-1293)cCc>cAc	p.P431H	MOSPD2_ENST00000482354.1_Missense_Mutation_p.P431H|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	431	MSP.					integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AAAGAAGTTCCCAGAAACAAA	0.443000													43	141					2.77807e-22	3.97541e-22	1	1	0
MYH3	4621	broad.mit.edu	37	17	10533483	10533483	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:10533483C>G	ENST00000583535.1	-	38	5575	c.5488G>C	c.(5488-5490)Gag>Cag	p.E1830Q	MYH3_ENST00000226209.7_Missense_Mutation_p.E1830Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1830					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTTCTGCTCTCCCTCAAGT	0.557000													25	236					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132257830	132257830	+	RNA	SNP	C	C	T	rs13035779	by1000genomes	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:132257830C>T	ENST00000438378.2	+	0	553					NR_026922.1																						GCAGCCTAGACGGTGTCCTCG	0.567000													4	43					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133398680	133398680	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:133398680T>A	ENST00000204726.3	-	2	593	c.35A>T	c.(34-36)cAg>cTg	p.Q12L	GOLGA3_ENST00000450791.2_Missense_Mutation_p.Q12L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q12L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Q12L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Q12L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	12					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCTGTCCTCCTGGAGGCCATC	0.642000													7	46					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25314011	25314011	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:25314011C>G	ENST00000524413.1	+	3	2206	c.1859C>G	c.(1858-1860)tCt>tGt	p.S620C	THNSL1_ENST00000376356.4_Missense_Mutation_p.S620C			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	620					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	GACTGGTGCTCTGAGGGAGAG	0.413000													11	75					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19975260	19975260	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:19975260A>T	ENST00000295824.9	-	1	412	c.251T>A	c.(250-252)aTg>aAg	p.M84K	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	84					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ACCCCTCTGCATGACAGTCCT	0.438000													16	89					0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78618448	78618448	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:78618448G>T	ENST00000434584.2	-	2	636	c.300C>A	c.(298-300)gaC>gaA	p.D100E	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Missense_Mutation_p.D144E	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	144						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CCTTTTCAAAGTCATGAATAA	0.388000													6	35					0.00198382	0.00208921	1	1	0
B3GNT4	79369	broad.mit.edu	37	12	122689187	122689187	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:122689187G>C	ENST00000324189.4	+	2	378	c.22G>C	c.(22-24)Gca>Cca	p.A8P	B3GNT4_ENST00000535274.1_5'UTR|B3GNT4_ENST00000546192.1_Intron|B3GNT4_ENST00000545141.1_Intron	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	8					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CCAGCCTTCCGCAGCCCACCA	0.647000													7	73					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228467143	228467143	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:228467143C>T	ENST00000570156.2	+	32	8755	c.8681C>T	c.(8680-8682)tCa>tTa	p.S2894L	OBSCN_ENST00000359599.6_Missense_Mutation_p.S1312L|OBSCN_ENST00000284548.11_Missense_Mutation_p.S2465L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S2465L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1894	Ig-like 28.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGTGGTCTCAGGTGAGCAC	0.682000													8	30					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69348565	69348565	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:69348565A>T	ENST00000370598.1	+	0	819					NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAAATGACATAGGATGAAGGC	0.378000													12	74					0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41129200	41129200	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:41129200G>A	ENST00000373113.3	-	2	285	c.192C>T	c.(190-192)gtC>gtT	p.V64V	TREM2_ENST00000373122.4_Silent_p.V64V|TREM2_ENST00000338469.3_Silent_p.V64V	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	64	Ig-like V-type.				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTGCGTGCTGACCACACGCT	0.622000													15	62					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52569743	52569743	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:52569743G>C	ENST00000395489.2	-	14	1919	c.1523C>G	c.(1522-1524)gCc>gGc	p.A508G	A1CF_ENST00000282641.2_Missense_Mutation_p.A515G|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Missense_Mutation_p.A507G|A1CF_ENST00000373993.1_Missense_Mutation_p.A515G|A1CF_ENST00000373995.3_Missense_Mutation_p.A515G|A1CF_ENST00000373997.3_Missense_Mutation_p.A507G|A1CF_ENST00000395495.1_Missense_Mutation_p.A460G	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	515					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGTGTATTCGGCTGCATACGT	0.532000													28	62					0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48086056	48086056	+	Splice_Site	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:48086056G>T	ENST00000348904.3	+	5	562		c.e5-1		C7orf57_ENST00000435376.1_Splice_Site|C7orf57_ENST00000420324.1_Splice_Site|C7orf57_ENST00000430738.1_Splice_Site|C7orf57_ENST00000539619.1_Splice_Site	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57											breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TGTCCTTGCAGAGTGCGGGCT	0.542000													6	14					8.12818e-05	9.01052e-05	1	1	0
KIAA0226L	80183	broad.mit.edu	37	13	46936716	46936716	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr13:46936716C>A	ENST00000429979.1	-	7	1547	c.943G>T	c.(943-945)Gat>Tat	p.D315Y	KIAA0226L_ENST00000378797.2_Missense_Mutation_p.D315Y|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.D180Y|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.D158Y|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.D315Y|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.D158Y|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.D248Y|KIAA0226L_ENST00000378781.3_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.D315Y	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	315										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCTGTGATATCATTAAAATCT	0.418000													3	6					6.4e-05	7.15357e-05	1	1	0
C9orf142	286257	broad.mit.edu	37	9	139887562	139887562	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:139887562G>A	ENST00000371620.3	+	4	314	c.288G>A	c.(286-288)ctG>ctA	p.L96L	C9orf142_ENST00000493968.1_3'UTR	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	chromosome 9 open reading frame 142	96												all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGCATCCCTGACGCTTTCAG	0.667000													11	36					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131981311	131981311	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:131981311G>T	ENST00000358087.5	+	2	716	c.664G>T	c.(664-666)Gag>Tag	p.E222*	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000356920.5_Intron|PLEKHB2_ENST00000404460.1_Intron			Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	212							ATP binding										ATATCAGCATGAGGTGGGTTT	0.358000													7	37					0.0477658	0.0487052	1	1	0
NGEF	25791	broad.mit.edu	37	2	233839369	233839369	+	Nonsense_Mutation	SNP	T	T	A	rs2271703	by1000genomes	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:233839369T>A	ENST00000264051.3	-	2	510	c.232A>T	c.(232-234)Aga>Tga	p.R78*		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	78	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		R -> G (in dbSNP:rs2271703).		apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGGTTGTCTCTGGCCTTGGCT	0.507000													34	254					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66935658	66935658	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:66935658C>T	ENST00000359742.4	-	3	449	c.209G>A	c.(208-210)gGa>gAa	p.G70E	GRIP1_ENST00000398016.3_Missense_Mutation_p.G70E|GRIP1_ENST00000286445.7_Missense_Mutation_p.G70E			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	70	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATCAATTCCTCCCGATACCGT	0.473000													27	213					0	0	1	0	0
GNPAT	8443	broad.mit.edu	37	1	231401781	231401781	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:231401781A>C	ENST00000366647.4	+	7	963	c.794A>C	c.(793-795)gAg>gCg	p.E265A	GNPAT_ENST00000366646.3_Missense_Mutation_p.E204A	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	265					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				ATTGTGATGGAGCCATTTTTT	0.348000													7	32					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55154985	55154985	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:55154985C>T	ENST00000257290.5	+	20	3025	c.2694C>T	c.(2692-2694)ggC>ggT	p.G898G	FIP1L1_ENST00000507166.1_Silent_p.G658G	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	898	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTTACCCCGGCATGATGGTGG	0.488000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			8	68					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15580054	15580054	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:15580054T>G	ENST00000427411.1	-	19	2608	c.2392A>C	c.(2392-2394)Act>Cct	p.T798P	ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000252519.3_Missense_Mutation_p.T798P	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	798					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	ACATCATCAGTGTTTTGGAAT	0.323000													14	54					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187318	12187318	+	Silent	SNP	C	C	T	rs61471402		TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:12187318C>T	ENST00000439326.3	+	4	1558	c.1383C>T	c.(1381-1383)caC>caT	p.H461H	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						ATCTGCCTCACACCTTCAAAT	0.423000													20	57					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592640	156592640	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:156592640C>G	ENST00000302938.4	-	1	635	c.540G>C	c.(538-540)gaG>gaC	p.E180D		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	180						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCAGTAACTCTCTACTGGTG	0.498000													19	198					0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218924996	218924996	+	RNA	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:218924996G>T	ENST00000439871.1	-	0	1384					NR_002712.1																						TAGTGGACATGAGGCTTGGAA	0.532000													6	65					0.0215528	0.0220768	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70331648	70331648	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:70331648G>A	ENST00000338508.4	-	32	4752	c.4753C>T	c.(4753-4755)Ccc>Tcc	p.P1585S	SHANK2_ENST00000409161.1_Missense_Mutation_p.P988S|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1205S|SHANK2_ENST00000449833.2_Missense_Mutation_p.P989S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1205					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			cccggcgggggcgggggagcg	0.562000													41	159					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228769682	228769682	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:228769682C>A	ENST00000373666.2	+	8	1322	c.686C>A	c.(685-687)aCc>aAc	p.T229N	DAW1_ENST00000309931.2_Missense_Mutation_p.T229N|DAW1_ENST00000545118.1_Missense_Mutation_p.T214N					dynein assembly factor with WDR repeat domains 1																		TCATTTAACACCTCAGGAGAC	0.398000													15	107					2.4624e-09	3.13142e-09	1	1	0
MKLN1	4289	broad.mit.edu	37	7	131113885	131113885	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:131113885C>G	ENST00000352689.6	+	9	981	c.941C>G	c.(940-942)tCt>tGt	p.S314C	MKLN1_ENST00000421797.2_Missense_Mutation_p.S222C	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	314					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ACATGTATCTCTAGAGACACT	0.413000													19	57					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898703	130898703	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:130898703C>A	ENST00000261655.4	-	14	2782	c.2619G>T	c.(2617-2619)gaG>gaT	p.E873D		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	873	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGGGAAGCTCCTCCTCTGCAG	0.612000													10	128					0.00621372	0.00646303	1	1	0
ALK	238	broad.mit.edu	37	2	29606604	29606604	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:29606604T>A	ENST00000389048.3	-	5	2182	c.1276A>T	c.(1276-1278)Agt>Tgt	p.S426C	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	426	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ATACCTTCACTGCAGTTCTTC	0.502000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				5	27					0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24423918	24423918	+	Missense_Mutation	SNP	G	G	A	rs114959453	byFrequency	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:24423918G>A	ENST00000378386.3	+	11	1421	c.1328G>A	c.(1327-1329)cGt>cAt	p.R443H	MRS2_ENST00000443868.2_Missense_Mutation_p.R446H|MRS2_ENST00000535061.1_Missense_Mutation_p.R393H|MRS2_ENST00000543597.1_Missense_Mutation_p.R152H|MRS2_ENST00000274747.7_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	443					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						CTAACAAACCGTTAGGAACAG	0.383000													3	20					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913241	6913241	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:6913241A>T	ENST00000299459.2	-	1	589	c.491T>A	c.(490-492)cTg>cAg	p.L164Q		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGGTAGCCTCAGTATGAAGGT	0.502000													7	46					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15468844	15468844	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:15468844G>C	ENST00000341776.2	+	5	809	c.565G>C	c.(565-567)Gat>Cat	p.D189H	JARID2_ENST00000397311.3_Missense_Mutation_p.D17H|JARID2_ENST00000541660.1_Missense_Mutation_p.D151H	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	189					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGAGGAGGAAGATGATGAGAC	0.478000													13	57					0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	678772	678772	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:678772G>T	ENST00000382409.3	-	9	1661	c.1177C>A	c.(1177-1179)Cac>Aac	p.H393N	DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.H304N	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	393	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CCGGGGTAGTGAGGCTCAGGG	0.582000													28	103					3.57733e-08	4.42407e-08	1	1	0
ZBTB26	57684	broad.mit.edu	37	9	125681461	125681461	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:125681461G>A	ENST00000373656.3	-	2	826	c.753C>T	c.(751-753)atC>atT	p.I251I	ZBTB26_ENST00000373654.1_Silent_p.I251I	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TTGAGGCCATGATGATGTTAT	0.433000													20	75					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150936131	150936131	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:150936131A>T	ENST00000271640.5	+	20	3773	c.3583A>T	c.(3583-3585)Aag>Tag	p.K1195*	SETDB1_ENST00000368969.4_Nonsense_Mutation_p.K1195*	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1195	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCTGTTCGTAAGAACACACG	0.502000													17	148					0	0	1	0	0
HSH2D	84941	broad.mit.edu	37	19	16268467	16268467	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:16268467G>C	ENST00000253680.6	+	9	1452	c.921G>C	c.(919-921)agG>agC	p.R307S	HSH2D_ENST00000588246.1_3'UTR|HSH2D_ENST00000593154.2_3'UTR|HSH2D_ENST00000397372.4_Missense_Mutation_p.R217S			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	307						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CAGGGGACAGGAGTTGGCACC	0.607000													6	25					0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3453868	3453868	+	Missense_Mutation	SNP	A	A	C	rs150025045	by1000genomes	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:3453868A>C	ENST00000589123.1	+	9	1470	c.1350A>C	c.(1348-1350)aaA>aaC	p.K450N	NFIC_ENST00000590282.1_Intron|NFIC_ENST00000586919.1_Intron|NFIC_ENST00000443272.2_Missense_Mutation_p.K459N|NFIC_ENST00000395111.3_Intron|NFIC_ENST00000346156.5_Intron|NFIC_ENST00000341919.3_Intron	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	459					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)		CTGCCACCAAACCCGCCACCA	0.701000													4	1					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	5997191	5997191	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:5997191G>A	ENST00000303657.5	-	16	2042	c.1893C>T	c.(1891-1893)agC>agT	p.S631S	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.S631S|RFX2_ENST00000592546.1_Silent_p.S606S	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGCTGGCAGCGCTGCGCAGGG	0.672000													16	33					0	0	1	0	0
PTX3	5806	broad.mit.edu	37	3	157160340	157160340	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:157160340C>G	ENST00000295927.3	+	3	863	c.718C>G	c.(718-720)Ctc>Gtc	p.L240V	VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	240	Pentaxin.				inflammatory response	extracellular region		p.L240V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCAGCTGTATCTCAGCTACCA	0.473000													13	104					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21337264	21337264	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr20:21337264G>A	ENST00000377191.3	+	23	2254	c.2159G>A	c.(2158-2160)gGa>gAa	p.G720E	XRN2_ENST00000430571.2_Missense_Mutation_p.G644E|XRN2_ENST00000539513.1_Missense_Mutation_p.G666E	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	720					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GGGATTCAAGGAAAGTTTTCT	0.393000													8	33					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88737108	88737108	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:88737108C>A	ENST00000312350.5	-	1	147	c.26G>T	c.(25-27)aGg>aTg	p.R9M	KCNK10_ENST00000319231.5_Intron|KCNK10_ENST00000340700.5_Intron	NM_138318.2	NP_612191.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	0					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						gccttcagtcctgtccccctt	0.507000													57	202					9.10829e-22	1.30063e-21	1	1	0
WASL	8976	broad.mit.edu	37	7	123388768	123388768	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:123388768C>A	ENST00000223023.4	-	1	353	c.21G>T	c.(19-21)caG>caT	p.Q7H		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	7					actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGGCGGCGGCTGCTGCTGGA	0.667000													8	24					0.000442599	0.000476537	1	1	0
ZC3H14	79882	broad.mit.edu	37	14	89039334	89039334	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:89039334G>T	ENST00000251038.5	+	6	1069	c.844G>T	c.(844-846)Gag>Tag	p.E282*	ZC3H14_ENST00000336693.4_Nonsense_Mutation_p.E248*|ZC3H14_ENST00000556945.1_Nonsense_Mutation_p.E282*|ZC3H14_ENST00000557607.1_Nonsense_Mutation_p.E127*|ZC3H14_ENST00000302216.8_Nonsense_Mutation_p.E282*|ZC3H14_ENST00000393514.5_Nonsense_Mutation_p.E282*|ZC3H14_ENST00000359301.3_Nonsense_Mutation_p.E248*|ZC3H14_ENST00000555755.1_Nonsense_Mutation_p.E282*	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	282						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AAACAACTCGGAGAAAATGAG	0.363000													13	64					2.61681e-11	3.4583e-11	1	1	0
PLA2G2A	5320	broad.mit.edu	37	1	20302260	20302260	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:20302260C>A	ENST00000375111.3	-	6	640	c.369G>T	c.(367-369)acG>acT	p.T123T	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Silent_p.T123T	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	123					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TATTGTAGGTCGTCTTGTTTC	0.463000													13	58					0.00185496	0.00196579	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26241126	26241126	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:26241126A>T	ENST00000265944.5	+	3	253	c.87A>T	c.(85-87)aaA>aaT	p.K29N	MYO3A_ENST00000376302.1_Missense_Mutation_p.K29N|MYO3A_ENST00000376301.1_Missense_Mutation_p.K29N|MYO3A_ENST00000543632.1_Missense_Mutation_p.K29N	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	29	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAATTGGCAAAGGAACTTATG	0.318000													5	28					0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69521069	69521069	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:69521069C>G	ENST00000341516.5	-	9	2481	c.2334G>C	c.(2332-2334)aaG>aaC	p.K778N	DCAF5_ENST00000557386.1_Missense_Mutation_p.K777N|DCAF5_ENST00000554215.1_Missense_Mutation_p.K696N|DCAF5_ENST00000556847.1_Missense_Mutation_p.K696N	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	778						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CATTGAGCTTCTTGGTTTCAA	0.592000													13	78					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230456419	230456419	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:230456419C>T	ENST00000341772.4	-	2	596	c.462G>A	c.(460-462)caG>caA	p.Q154Q		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	154					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAGGAACAGGCTGAAGCTGTC	0.562000													7	68					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7022215	7022215	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:7022215C>T	ENST00000278314.4	-	3	1014	c.699G>A	c.(697-699)cgG>cgA	p.R233R	ZNF214_ENST00000536068.1_Silent_p.R233R	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GGAAAACACACCGTGAGTTCC	0.383000													10	71					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46828610	46828610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:46828610G>A	ENST00000283296.7	-	16	2509	c.2221C>T	c.(2221-2223)Cag>Tag	p.Q741*	GPR116_ENST00000456426.2_Nonsense_Mutation_p.Q599*|GPR116_ENST00000362015.4_Nonsense_Mutation_p.Q741*|GPR116_ENST00000545669.1_Nonsense_Mutation_p.Q170*|GPR116_ENST00000265417.7_Nonsense_Mutation_p.Q741*	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	741					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATCTCATCCTGAGAGGGGCTC	0.423000													4	27					0	0	1	0	0
INTS12	57117	broad.mit.edu	37	4	106604352	106604352	+	Silent	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:106604352T>C	ENST00000451321.2	-	7	1406	c.927A>G	c.(925-927)aaA>aaG	p.K309K	INTS12_ENST00000340139.5_Silent_p.K309K|INTS12_ENST00000394735.1_Silent_p.K309K	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	309	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TTGAACTCAATTTTGCTGTTG	0.463000													10	66					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124138357	124138357	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:124138357G>C	ENST00000287380.1	+	12	1722	c.1632G>C	c.(1630-1632)atG>atC	p.M544I	TBC1D31_ENST00000327098.5_Missense_Mutation_p.M544I|TBC1D31_ENST00000309336.3_Missense_Mutation_p.M544I|TBC1D31_ENST00000522420.1_Missense_Mutation_p.M439I|TBC1D31_ENST00000521676.1_Missense_Mutation_p.M421I|TBC1D31_ENST00000518805.1_Missense_Mutation_p.M177I|TBC1D31_ENST00000378080.2_Missense_Mutation_p.M439I	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TTCTTAGCATGATAGAAAATG	0.318000													7	58					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67316232	67316232	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:67316232G>T	ENST00000360461.5	+	8	3768	c.1233G>T	c.(1231-1233)gtG>gtT	p.V411V	PLEKHG4_ENST00000450733.1_Silent_p.V330V|PLEKHG4_ENST00000379344.3_Silent_p.V411V|PLEKHG4_ENST00000427155.2_Silent_p.V411V	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	411					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TCCCAGAGGTGACCCTGAGCC	0.607000													5	29					3.59834e-05	4.04888e-05	1	1	0
CPNE4	131034	broad.mit.edu	37	3	131261465	131261465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:131261465G>T	ENST00000512055.1	-	19	3601	c.1475C>A	c.(1474-1476)tCa>tAa	p.S492*	CPNE4_ENST00000511604.1_Nonsense_Mutation_p.S492*|CPNE4_ENST00000502818.1_Nonsense_Mutation_p.S510*|CPNE4_ENST00000512332.1_Nonsense_Mutation_p.S510*|CPNE4_ENST00000429747.1_Nonsense_Mutation_p.S492*			Q96A23	CPNE4_HUMAN	copine IV	492	VWFA.									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						TCCCTTGGGTGACCTCAGAAT	0.522000													13	72					4.3838e-07	5.2481e-07	1	1	0
FBXO39	162517	broad.mit.edu	37	17	6683452	6683452	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:6683452C>G	ENST00000321535.4	+	2	395	c.265C>G	c.(265-267)Ctg>Gtg	p.L89V		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	89										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGGTCGTTATCTGGAGCACCT	0.493000													15	136					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706414	96706414	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:96706414G>A	ENST00000389672.5	+	3	729	c.691G>A	c.(691-693)Gga>Aga	p.G231R	EPHA6_ENST00000470610.2_Missense_Mutation_p.G231R|EPHA6_ENST00000542517.1_Missense_Mutation_p.G137R	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	136						integral to plasma membrane	ATP binding|ephrin receptor activity	p.G137*(2)|p.G231*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGAGTCCCACGGAATTAAATT	0.398000													15	130					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180477290	180477290	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:180477290G>A	ENST00000327705.9	+	4	888	c.657G>A	c.(655-657)gcG>gcA	p.A219A	BTNL9_ENST00000376842.3_Silent_p.A219A|BTNL9_ENST00000376841.2_Silent_p.A219A|BTNL9_ENST00000515271.1_Silent_p.A150A	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	219						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGTCCGAGCGGGAGCCCTCA	0.557000													19	90					0	0	1	0	0
AHSA1	10598	broad.mit.edu	37	14	77928557	77928557	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:77928557C>T	ENST00000216479.3	+	3	486	c.326C>T	c.(325-327)tCt>tTt	p.S109F	AHSA1_ENST00000535854.2_Missense_Mutation_p.S109F|AHSA1_ENST00000555457.1_3'UTR	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	109					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCCAATTTGTCTGATGAAAAC	0.423000													5	33					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160661568	160661568	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:160661568G>T	ENST00000263636.4	-	35	5183	c.5156C>A	c.(5155-5157)tCt>tAt	p.S1719Y	LY75_ENST00000554112.1_Intron|LY75-CD302_ENST00000505052.1_Intron|LY75-CD302_ENST00000504764.1_Intron|LY75_ENST00000553424.1_Intron	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GTCATGGAAAGAAGGAAGCAT	0.388000													15	31					0.00400662	0.00418677	1	1	0
NETO2	81831	broad.mit.edu	37	16	47117291	47117291	+	Silent	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:47117291T>C	ENST00000562435.1	-	9	1803	c.1419A>G	c.(1417-1419)acA>acG	p.T473T	NETO2_ENST00000303155.5_Silent_p.T466T	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	473						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TGCTATTAAATGTTTTCATTG	0.488000										HNSCC(25;0.065)			23	187					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145638105	145638105	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:145638105G>C	ENST00000265271.5	+	11	1854	c.1688G>C	c.(1687-1689)aGa>aCa	p.R563T	RBM27_ENST00000506502.1_Missense_Mutation_p.R508T	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	563					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCGAAAAAGAGCTATGAGT	0.403000													12	58					0	0	1	0	0
TMED10	10972	broad.mit.edu	37	14	75614401	75614401	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:75614401A>C	ENST00000303575.4	-	3	428	c.377T>G	c.(376-378)aTg>aGg	p.M126R	TMED10_ENST00000557670.1_5'UTR	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	126	GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TCCATGCTTCATGTCTAGGAT	0.463000													33	175					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328343	48328343	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:48328343C>T	ENST00000319988.1	+	1	569	c.569C>T	c.(568-570)aCc>aTc	p.T190I		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGTGCAGACACCTACATGGTA	0.458000													18	67					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164737536	164737536	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:164737536A>T	ENST00000264382.3	-	28	3339	c.3277T>A	c.(3277-3279)Ttt>Att	p.F1093I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1093	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTAAAAGCAAATCCAGGCAGC	0.353000										HNSCC(35;0.089)			11	38					0	0	1	0	0
LRRN4CL	221091	broad.mit.edu	37	11	62455963	62455963	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:62455963G>A	ENST00000317449.4	-	2	495	c.18C>T	c.(16-18)tgC>tgT	p.C6C		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	6						integral to membrane				cervix(1)|kidney(1)	2						GCCACAGAAGGCAGGGAGAGC	0.577000													5	35					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105269047	105269047	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:105269047C>G	ENST00000306107.5	+	12	1951	c.1451C>G	c.(1450-1452)aCt>aGt	p.T484S	ALCAM_ENST00000486979.2_Missense_Mutation_p.T433S|ALCAM_ENST00000472644.2_Missense_Mutation_p.T484S|ALCAM_ENST00000389927.4_Missense_Mutation_p.T206S	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	484	Ig-like C2-type 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTTACATTAACTTGCACAGCA	0.338000													25	67					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7822238	7822238	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:7822238C>A	ENST00000379562.3	-	3	289	c.242G>T	c.(241-243)aGg>aTg	p.R81M	KIN_ENST00000543003.1_De_novo_Start_InFrame|KIN_ENST00000535925.1_Missense_Mutation_p.R81M			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	81					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AAAGCGTCTCCTGAGAAGTTC	0.313000													12	57					1.08611e-07	1.32856e-07	1	1	0
MYH4	4622	broad.mit.edu	37	17	10357076	10357076	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:10357076G>T	ENST00000255381.2	-	23	2928	c.2818C>A	c.(2818-2820)Ctg>Atg	p.L940M	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	940					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGGCTGTCAGCTCAGCATTG	0.433000													27	268					7.38237e-10	9.56868e-10	1	1	0
SLC13A1	6561	broad.mit.edu	37	7	122774493	122774493	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:122774493G>T	ENST00000194130.2	-	8	942	c.903C>A	c.(901-903)atC>atA	p.I301I	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	301						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACTGAAGCCAGATCCAGGATA	0.413000													18	44					8.81451e-21	1.2481e-20	1	1	0
GFAP	2670	broad.mit.edu	37	17	42990693	42990693	+	Missense_Mutation	SNP	A	A	G	rs60551555		TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:42990693A>G	ENST00000253408.5	-	4	789	c.724T>C	c.(724-726)Tat>Cat	p.Y242H	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.Y242H|GFAP_ENST00000435360.2_Missense_Mutation_p.Y242H	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	242	Coil 2A.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ATTGCCTCATACTGCGTGCGG	0.627000													23	138					0	0	1	0	0
PRMT3	10196	broad.mit.edu	37	11	20529927	20529927	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:20529927A>T	ENST00000331079.6	+	16	1781	c.1564A>T	c.(1564-1566)Aat>Tat	p.N522Y	PRMT3_ENST00000437750.2_Missense_Mutation_p.N460Y	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	522							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CCTCACGTTGAATAATTCAAC	0.438000													9	43					0	0	1	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873561	37873561	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:37873561G>C	ENST00000295324.3	-	2	1170	c.170C>G	c.(169-171)tCc>tGc	p.S57C	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	57					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				TTGAAGAAAGGAAATATCTCC	0.517000													34	112					0	0	1	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709460	31709460	+	Missense_Mutation	SNP	A	A	T	rs112016880	byFrequency	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr21:31709460A>T	ENST00000382835.2	-	1	552	c.527T>A	c.(526-528)cTg>cAg	p.L176Q		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	176						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						AACATTGACCAGAGGTCTACA	0.458000													17	69					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74600066	74600066	+	Missense_Mutation	SNP	G	G	A	rs148810193		TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:74600066G>A	ENST00000361874.3	-	7	759	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	DCTN1_ENST00000409868.1_Missense_Mutation_p.R131W|DCTN1_ENST00000409438.1_Missense_Mutation_p.R14W|DCTN1_ENST00000409567.3_Intron|DCTN1_ENST00000394003.3_Missense_Mutation_p.R141W|DCTN1_ENST00000409240.1_Intron|DCTN1_ENST00000407639.2_Missense_Mutation_p.R14W	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	148					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTGGGTCGCCGAGTTGTGGTC	0.522000													9	51					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17690470	17690470	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr22:17690470G>T	ENST00000399839.1	-	2	368	c.98C>A	c.(97-99)aCa>aAa	p.T33K	CECR1_ENST00000449907.2_5'UTR|CECR1_ENST00000262607.3_Missense_Mutation_p.T33K|CECR1_ENST00000399837.2_Missense_Mutation_p.T33K			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	33	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATGCGCCCGTGTTTCATCTAT	0.567000													6	52					0.0293803	0.0300036	1	1	0
GNB1L	54584	broad.mit.edu	37	22	19808806	19808806	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr22:19808806C>G	ENST00000329517.6	-	3	309	c.73G>C	c.(73-75)Gcg>Ccg	p.A25P	GNB1L_ENST00000405009.1_Missense_Mutation_p.A25P|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.A25P	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	25					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					AAGTGCAGCGCATGCACCGGT	0.687000													12	116					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046229	9046229	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:9046229G>T	ENST00000397910.4	-	5	35605	c.35402C>A	c.(35401-35403)tCa>tAa	p.S11801*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11803	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						AATGGTGAGTGAGGCTGTGGT	0.483000													7	25					1.06961e-07	1.31315e-07	1	1	0
FAM155A	728215	broad.mit.edu	37	13	108518771	108518771	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr13:108518771G>A	ENST00000375915.2	-	1	312	c.174C>T	c.(172-174)ttC>ttT	p.F58F		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	58						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTCGGCGCAGAACCACAAGT	0.607000													17	132					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63987477	63987477	+	Silent	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:63987477C>G	ENST00000279227.5	+	10	1301	c.1206C>G	c.(1204-1206)ctC>ctG	p.L402L	FERMT3_ENST00000345728.5_Silent_p.L398L	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	402	FERM.|PH.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						TTCAGCAGCTCAACCTCAAGG	0.622000													9	69					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6643583	6643583	+	Silent	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:6643583T>C	ENST00000299441.3	-	21	9735	c.9324A>G	c.(9322-9324)agA>agG	p.R3108R		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3108					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCCCTCCTCTCTGTAGAGAG	0.642000													5	11					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73254084	73254084	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:73254084C>A	ENST00000377110.2	-	11	1716	c.1473G>T	c.(1471-1473)ttG>ttT	p.L491F	TRPM3_ENST00000396285.1_Missense_Mutation_p.L338F|TRPM3_ENST00000377111.2_Missense_Mutation_p.L491F|TRPM3_ENST00000357533.2_Missense_Mutation_p.L493F|TRPM3_ENST00000423814.3_Missense_Mutation_p.L518F|TRPM3_ENST00000396280.5_Missense_Mutation_p.L338F|TRPM3_ENST00000396292.4_Missense_Mutation_p.L363F|TRPM3_ENST00000360823.2_Missense_Mutation_p.L363F|TRPM3_ENST00000377105.1_Missense_Mutation_p.L338F|TRPM3_ENST00000377106.1_Missense_Mutation_p.L363F|TRPM3_ENST00000408909.2_Missense_Mutation_p.L338F|TRPM3_ENST00000358082.3_Missense_Mutation_p.L363F	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	516						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTAAGGCATCCAACATGGCTT	0.453000													27	39					1.2476e-16	1.74096e-16	1	1	0
BPIFA1	51297	broad.mit.edu	37	20	31829263	31829263	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr20:31829263G>C	ENST00000354297.4	+	6	725	c.654G>C	c.(652-654)ttG>ttC	p.L218F	BPIFA1_ENST00000375413.4_Missense_Mutation_p.L218F|BPIFA1_ENST00000375422.2_Missense_Mutation_p.L218F	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	218					innate immune response	extracellular region	lipid binding										TGCCTGAGTTGGTTCAGGGCA	0.512000													18	188					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093591	143093591	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:143093591C>A	ENST00000367603.2	-	5	3027	c.2285G>T	c.(2284-2286)cGg>cTg	p.R762L	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R762L|HIVEP2_ENST00000367604.1_Missense_Mutation_p.R762L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	762					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CAGTTGGGGCCGACATGGGTC	0.537000													12	37					9.31168e-06	1.06918e-05	1	1	0
OR6Q1	219952	broad.mit.edu	37	11	57798603	57798603	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:57798603C>G	ENST00000302622.3	+	1	202	c.179C>G	c.(178-180)cCc>cGc	p.P60R	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CTACGGAGACCCATGTATTTC	0.488000													43	148					0	0	1	0	0
C11orf87	399947	broad.mit.edu	37	11	109294788	109294788	+	Silent	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:109294788T>A	ENST00000327419.6	+	2	832	c.429T>A	c.(427-429)ccT>ccA	p.P143P	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	143						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						TCTGCGCCCCTTCCAACGCCT	0.716000													38	96					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18573927	18573927	+	Silent	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:18573927T>C	ENST00000433979.1	+	16	2361	c.2245T>C	c.(2245-2247)Ttg>Ctg	p.L749L	PIK3C2G_ENST00000538779.1_Silent_p.L790L|PIK3C2G_ENST00000266497.5_Silent_p.L749L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	749					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGACAACCTCTTGAATGATGA	0.348000													4	45					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683885	6683885	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:6683885A>G	ENST00000321535.4	+	2	828	c.698A>G	c.(697-699)tAc>tGc	p.Y233C		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	233								p.Y233F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AACCTCAACTACAACTGTATC	0.502000													17	55					0	0	1	0	0
CLP1	10978	broad.mit.edu	37	11	57428663	57428663	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:57428663C>G	ENST00000533682.1	+	3	1758	c.1033C>G	c.(1033-1035)Caa>Gaa	p.Q345E	CLP1_ENST00000302731.4_Missense_Mutation_p.Q281E|CLP1_ENST00000529430.1_Missense_Mutation_p.Q356E|CLP1_ENST00000525602.1_Missense_Mutation_p.Q345E			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	345					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						GGGCATGTCTCAAGAGGATAA	0.483000													31	127					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44887652	44887652	+	Silent	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:44887652G>C	ENST00000261866.7	-	26	4456	c.4440C>G	c.(4438-4440)gcC>gcG	p.A1480A	SPG11_ENST00000558319.1_Silent_p.A1480A|SPG11_ENST00000427534.2_Silent_p.A1480A|SPG11_ENST00000535302.2_Silent_p.A1480A	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1480					cell death	cytosol|integral to membrane|nucleus	protein binding	p.A1480A(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAATGGCACTGGCACCCTGCC	0.428000													8	29					0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170064294	170064294	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:170064294C>A	ENST00000333572.6	-	8	1391	c.872G>T	c.(871-873)aGa>aTa	p.R291I	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.R291I|WDR27_ENST00000420344.2_3'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.R164I			A2RRH5	WDR27_HUMAN	WD repeat domain 27	261										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTTAACCCTTCTTGTGGAGAA	0.532000													11	23					1.58986e-06	1.86684e-06	1	1	0
MED12	9968	broad.mit.edu	37	X	70343054	70343054	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:70343054G>C	ENST00000333646.6	+	11	1794	c.1595G>C	c.(1594-1596)aGa>aCa	p.R532T	MED12_ENST00000374102.1_Missense_Mutation_p.R532T|MED12_ENST00000374080.3_Missense_Mutation_p.R532T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	532					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTGGAGAAGAGACAGGCGGAG	0.522000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						8	79					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44269129	44269129	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:44269129C>G	ENST00000244571.4	-	20	2673	c.2671G>C	c.(2671-2673)Gag>Cag	p.E891Q	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'UTR	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	891					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GAGAGAGACTCAGCAGAGACT	0.612000													17	211					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118926026	118926026	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:118926026A>C	ENST00000404233.3	-	5	414	c.290T>G	c.(289-291)cTa>cGa	p.L97R	HYOU1_ENST00000529972.1_Missense_Mutation_p.L97R|HYOU1_ENST00000525859.1_Missense_Mutation_p.L97R|HYOU1_ENST00000543287.1_Missense_Mutation_p.L10R	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	97						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GAAGTAACGTAGCGTAGCCTT	0.537000													32	148					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34247688	34247688	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:34247688G>C	ENST00000346562.2	+	8	1041	c.967G>C	c.(967-969)Gat>Cat	p.D323H	NPAS3_ENST00000356141.4_Missense_Mutation_p.D355H|NPAS3_ENST00000551492.1_Missense_Mutation_p.D360H|NPAS3_ENST00000548645.1_Missense_Mutation_p.D325H|NPAS3_ENST00000357798.5_Missense_Mutation_p.D342H	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	355	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGATTATATGGATCTGACCCC	0.418000													8	47					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140884972	140884972	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:140884972C>T	ENST00000252085.3	+	3	2638	c.2496C>T	c.(2494-2496)ggC>ggT	p.G832G	PCDHGA11_ENST00000518882.1_Silent_p.G650G|PCDHGC4_ENST00000306593.1_Silent_p.G838G|PCDHGB3_ENST00000576222.1_Silent_p.G829G|PCDHGA4_ENST00000571252.1_Silent_p.G831G|PCDHGB1_ENST00000523390.1_Silent_p.G827G|PCDHGA7_ENST00000518325.1_Silent_p.G832G|PCDHGB2_ENST00000522605.1_Silent_p.G831G|PCDHGB6_ENST00000520790.1_Silent_p.G830G|PCDHGB4_ENST00000519479.1_Silent_p.G823G|PCDHGA11_ENST00000398587.2_Silent_p.G835G|PCDHGA5_ENST00000518069.1_Silent_p.G831G|PCDHGB7_ENST00000398594.2_Silent_p.G829G|PCDHGA8_ENST00000398604.2_Silent_p.G832G|PCDHGA9_ENST00000573521.1_Silent_p.G832G|PCDHGC3_ENST00000308177.3_Silent_p.G834G|PCDHGA1_ENST00000517417.1_Silent_p.G831G|PCDHGA2_ENST00000394576.2_Silent_p.G832G|PCDHGC5_ENST00000252087.1_Silent_p.G844G|PCDHGA3_ENST00000253812.6_Silent_p.G832G|PCDHGA10_ENST00000398610.2_Silent_p.G836G|PCDHGA6_ENST00000517434.1_Silent_p.G832G	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAAAATGGCGATGACACCG	0.587000													33	127					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230456481	230456481	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:230456481G>T	ENST00000341772.4	-	2	534	c.400C>A	c.(400-402)Cag>Aag	p.Q134K		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	134					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGAAGTGCCTGTTCACAGTTG	0.572000													20	51					2.54575e-18	3.56722e-18	1	1	0
UBBP4	23666	broad.mit.edu	37	17	21731066	21731066	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:21731066G>T	ENST00000584755.1	+	2	765	c.368G>T	c.(367-369)gGc>gTc	p.G123V	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.G123V																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCTTTGCAGGCAAGCAGCTG	0.537000													11	69					0.00244969	0.00257581	1	1	0
MEFV	4210	broad.mit.edu	37	16	3293510	3293510	+	Silent	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:3293510A>T	ENST00000219596.1	-	10	2016	c.1977T>A	c.(1975-1977)gtT>gtA	p.V659V	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.V448V|MEFV_ENST00000339854.4_Silent_p.V479V	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	659	B30.2/SPRY.				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)	TCTTGTCTCCAACCTCCACCT	0.547000													33	109					0	0	1	0	0
C11orf87	399947	broad.mit.edu	37	11	109294455	109294455	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:109294455C>A	ENST00000327419.6	+	2	499	c.96C>A	c.(94-96)aaC>aaA	p.N32K	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	32						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCAGCGGCAACACGGGTGCCC	0.677000													9	26					0.00448238	0.00466944	1	1	0
MYH10	4628	broad.mit.edu	37	17	8455463	8455463	+	Splice_Site	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:8455463C>G	ENST00000360416.3	-	9	959		c.e9-1		MYH10_ENST00000379980.4_Splice_Site|MYH10_ENST00000269243.4_Splice_Site|MYH10_ENST00000396239.1_Splice_Site	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle						actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCAGAAGGTCTGAGCAAAGA	0.328000													3	18					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25182360	25182360	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:25182360G>C	ENST00000409280.1	-	8	1066	c.758C>G	c.(757-759)tCt>tGt	p.S253C	C7orf31_ENST00000283905.3_Missense_Mutation_p.S253C			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	253										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TGAATTTAAAGAAGTGTTAGG	0.393000													10	55					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687013	21687013	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr20:21687013C>T	ENST00000444366.2	+	1	153	c.152C>T	c.(151-153)cCc>cTc	p.P51L	PAX1_ENST00000398485.2_Intron|PAX1_ENST00000460221.1_Intron			P15863	PAX1_HUMAN	paired box 1	76					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCGTGGGGACCCTTGGCTAAC	0.657000													13	53					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672671	30672671	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:30672671G>C	ENST00000376406.3	-	10	4936	c.4289C>G	c.(4288-4290)tCt>tGt	p.S1430C	MDC1_ENST00000376405.2_Missense_Mutation_p.S1166C|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1430	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGTGGCCTGAGATGTGGGCTC	0.577000								Other conserved DNA damage response genes					19	199					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880610	142880610	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:142880610C>A	ENST00000446620.1	+	1	99	c.99C>A	c.(97-99)ctC>ctA	p.L33L		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	33					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CGCCATTTCTCATCACCTTAA	0.398000													7	48					2.0095e-06	2.34325e-06	1	1	0
MCF2L2	23101	broad.mit.edu	37	3	183006981	183006981	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:183006981G>C	ENST00000328913.3	-	14	2000	c.1703C>G	c.(1702-1704)tCt>tGt	p.S568C	MCF2L2_ENST00000473233.1_Missense_Mutation_p.S568C|MCF2L2_ENST00000447025.2_Missense_Mutation_p.S568C|MCF2L2_ENST00000414362.2_Missense_Mutation_p.S568C|B3GNT5_ENST00000462559.1_Intron	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	568					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGGTTCCTCAGACGTTCTCAG	0.393000													4	39					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17273806	17273806	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:17273806C>A	ENST00000380647.3	+	6	1009	c.925C>A	c.(925-927)Cag>Aag	p.Q309K	CNTLN_ENST00000425824.1_Missense_Mutation_p.Q309K|CNTLN_ENST00000262360.5_Missense_Mutation_p.Q309K|CNTLN_ENST00000380641.4_Missense_Mutation_p.Q309K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	309						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TCTATCATTACAGTTGAGTAA	0.303000													14	39					0.000219431	0.000240483	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98586467	98586467	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:98586467G>A	ENST00000359863.4	+	62	9690	c.9481G>A	c.(9481-9483)Gac>Aac	p.D3161N	TRRAP_ENST00000446306.3_Missense_Mutation_p.D3132N|TRRAP_ENST00000355540.3_Missense_Mutation_p.D3132N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3161	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CATGTGGGGCGACTACCTGGA	0.582000													17	90					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31382750	31382750	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:31382750C>T	ENST00000355683.5	-	8	1317	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	STRN3_ENST00000357479.5_Missense_Mutation_p.D452N|STRN3_ENST00000366206.2_Intron	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	373					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TAGTCTGCATCATTTGTTACC	0.338000													8	45					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52542718	52542718	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr13:52542718C>T	ENST00000242839.4	-	4	1725	c.1569G>A	c.(1567-1569)ttG>ttA	p.L523L	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Silent_p.L523L|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Silent_p.L412L|ATP7B_ENST00000344297.5_Silent_p.L523L|ATP7B_ENST00000418097.2_Silent_p.L523L|ATP7B_ENST00000542656.1_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	523	HMA 5.				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)		TTCCTGCCATCAAGGCAACCA	0.532000									Wilson disease				7	50					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119582943	119582943	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:119582943C>A	ENST00000313400.4	-	12	2260	c.2160G>T	c.(2158-2160)ctG>ctT	p.L720L	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.L669L|ASTN2_ENST00000373996.3_Silent_p.L716L			O75129	ASTN2_HUMAN	astrotactin 2	720	EGF-like 3.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGGGCAGGGGCAGCGTCTGCT	0.582000													33	103					6.50621e-10	8.4493e-10	1	1	0
HMCES	56941	broad.mit.edu	37	3	129009527	129009527	+	Silent	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:129009527T>A	ENST00000383463.4	+	4	422	c.333T>A	c.(331-333)ccT>ccA	p.P111P	C3orf37_ENST00000502878.2_Silent_p.P111P|C3orf37_ENST00000417226.2_Intron|C3orf37_ENST00000389735.3_Silent_p.P111P	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN		111										breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						CTCAGGTGCCTCTGGGAAAGG	0.438000													8	82					0	0	1	0	0
DPT	1805	broad.mit.edu	37	1	168698317	168698317	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:168698317G>A	ENST00000367817.3	-	1	185	c.96C>T	c.(94-96)gaC>gaT	p.D32D		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	32	2 X 53-55 AA tandem repeats.				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CATCGCTGTAGTCATGATACT	0.552000													6	49					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13438790	13438790	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:13438790C>A	ENST00000278174.5	-	5	847	c.602G>T	c.(601-603)cGa>cTa	p.R201L	BTBD10_ENST00000530907.1_Missense_Mutation_p.R209L|BTBD10_ENST00000528120.1_Missense_Mutation_p.R153L	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	201	BTB.					nucleus		p.R201Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		GTTATGTTCTCGGCCAGATCC	0.373000													39	144					8.16277e-20	1.15099e-19	1	1	0
C1R	715	broad.mit.edu	37	12	7188375	7188375	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:7188375C>T	ENST00000542285.1	-	11	1572	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K				P00736	C1R_HUMAN	complement component 1, r subcomponent	527	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGAGCTCTTCCACATTTGTG	0.567000													10	94					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750780	140750780	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:140750780C>G	ENST00000576222.1	+	1	950	c.819C>G	c.(817-819)atC>atG	p.I273M	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGGGCATCAATGCCGAAA	0.468000													12	95					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161954721	161954721	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:161954721G>C	ENST00000294794.3	-	7	1947	c.1524C>G	c.(1522-1524)aaC>aaG	p.N508K	OLFML2B_ENST00000367940.2_Missense_Mutation_p.N509K|OLFML2B_ENST00000367938.1_5'UTR	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	508	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCCCATATGTGTTCTGGGTGG	0.547000													13	99					0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953464	8953464	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:8953464G>A	ENST00000595891.1	+	3	341	c.110G>A	c.(109-111)aGg>aAg	p.R37K	MBD3L1_ENST00000305625.2_Missense_Mutation_p.R37K			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	37	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						ACATTCAAGAGGCCAGTAACG	0.493000													23	33					0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681360	142681360	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:142681360G>T	ENST00000340634.3	-	1	818	c.819C>A	c.(817-819)ctC>ctA	p.L273L		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	273						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						AGTGCACGAAGAGTGTGGGGT	0.607000													25	92					1.85244e-09	2.37818e-09	1	1	0
HGF	3082	broad.mit.edu	37	7	81358947	81358947	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:81358947G>T	ENST00000222390.5	-	8	1240	c.1014C>A	c.(1012-1014)gaC>gaA	p.D338E	HGF_ENST00000457544.2_Missense_Mutation_p.D333E	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	338	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CAGGAGTCATGTCATGCTCGT	0.438000													14	48					1.49906e-05	1.70382e-05	1	1	0
SLC4A1	6521	broad.mit.edu	37	17	42338086	42338086	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:42338086C>A	ENST00000262418.6	-	5	421	c.266G>T	c.(265-267)gGg>gTg	p.G89V	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	89					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCCATTCTCCCCCAGGTTCTC	0.632000													7	81					3.09899e-07	3.7232e-07	1	1	0
RYR3	6263	broad.mit.edu	37	15	33936681	33936681	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:33936681G>A	ENST00000389232.4	+	28	3796	c.3726G>A	c.(3724-3726)ccG>ccA	p.P1242P	RYR3_ENST00000415757.3_Silent_p.P1242P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1242	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCGCCTCCCGACGTTTGTCA	0.512000													4	24					0	0	1	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48810455	48810455	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:48810455G>A	ENST00000265563.8	-	6	878	c.629C>T	c.(628-630)gCt>gTt	p.A210V	PRKAR2A_ENST00000454963.1_Missense_Mutation_p.A210V|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.A210V	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	210					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GTACATCAGAGCTAGTTCTCC	0.463000													12	58					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976739	38976739	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:38976739T>A	ENST00000355481.4	+	34	5575	c.5444T>A	c.(5443-5445)cTg>cAg	p.L1815Q	RYR1_ENST00000360985.3_Missense_Mutation_p.L1815Q|RYR1_ENST00000359596.3_Missense_Mutation_p.L1815Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1815	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGAGGATGCTGGGGGAGGCG	0.716000													59	85					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200959747	200959747	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:200959747A>G	ENST00000332129.2	-	19	3108	c.2792T>C	c.(2791-2793)aTg>aCg	p.M931T	KIF21B_ENST00000461742.2_Missense_Mutation_p.M931T|KIF21B_ENST00000360529.5_Missense_Mutation_p.M931T|KIF21B_ENST00000422435.2_Missense_Mutation_p.M931T	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	931					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GACAATGGTCATTCTCTGCAT	0.577000													5	43					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55406867	55406867	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:55406867C>G	ENST00000398661.2	-	3	401	c.270G>C	c.(268-270)caG>caC	p.Q90H	HMGCLL1_ENST00000370850.2_Missense_Mutation_p.Q60H|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.Q60H|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.Q60H|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.Q60H|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.Q60H	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	90							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCTTTTCATTCTGCAATCCAT	0.313000													8	28					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98209480	98209480	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:98209480G>A	ENST00000430669.2	-	23	4445	c.3860C>T	c.(3859-3861)gCg>gTg	p.A1287V	PTCH1_ENST00000331920.6_Missense_Mutation_p.A1353V|PTCH1_ENST00000375274.2_Missense_Mutation_p.A1352V|PTCH1_ENST00000421141.1_Missense_Mutation_p.A1202V|PTCH1_ENST00000418258.1_Missense_Mutation_p.A1202V|PTCH1_ENST00000429896.2_Missense_Mutation_p.A1202V|PTCH1_ENST00000437951.1_Missense_Mutation_p.A1287V			Q13635	PTC1_HUMAN	patched 1	1353					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGCAGTGGACGCTGGGTTCCG	0.647000													7	68					0	0	1	0	0
MSRA	4482	broad.mit.edu	37	8	10285782	10285782	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:10285782G>T	ENST00000528246.1	+	7	1093	c.470G>T	c.(469-471)gGg>gTg	p.G157V	MSRA_ENST00000317173.4_Missense_Mutation_p.G223V|MSRA_ENST00000382490.5_Missense_Mutation_p.G180V|MSRA_ENST00000441698.2_Missense_Mutation_p.G183V	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	223					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	TGCGGCCTTGGGGGCACCGGC	0.522000													7	63					5.50884e-06	6.34693e-06	1	1	0
COL6A5	256076	broad.mit.edu	37	3	130095080	130095080	+	Splice_Site	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:130095080G>T	ENST00000265379.6	+	3	562	c.67_splice	c.e3-1	p.G23_splice	COL6A5_ENST00000432398.2_Splice_Site_p.G23_splice			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	23	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATTTTGATAGGGCCAGGCCCT	0.388000													4	36					0.00909568	0.00943152	1	1	0
KCNIP2	30819	broad.mit.edu	37	10	103587744	103587744	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:103587744G>A	ENST00000358038.3	-	7	901	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	KCNIP2_ENST00000356640.2_Missense_Mutation_p.L202F|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000353068.3_Missense_Mutation_p.L159F|KCNIP2_ENST00000343195.4_Missense_Mutation_p.L152F|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000461105.1_Missense_Mutation_p.L217F|KCNIP2_ENST00000370046.1_Missense_Mutation_p.L116F|KCNIP2_ENST00000348850.5_Missense_Mutation_p.L157F	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	202	EF-hand 3.				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		ATGATGTCAAGCATTTCCTGT	0.537000													28	41					0	0	1	0	0
CDC40	51362	broad.mit.edu	37	6	110541042	110541042	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:110541042C>G	ENST00000368932.1	+	13	1411	c.1310C>G	c.(1309-1311)tCt>tGt	p.S437C	CDC40_ENST00000307731.1_Missense_Mutation_p.S437C|CDC40_ENST00000368933.1_Missense_Mutation_p.S437C|CDC40_ENST00000368930.1_Missense_Mutation_p.S437C			O60508	PRP17_HUMAN	cell division cycle 40	437					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		GTGAGCACATCTGATGATAAA	0.368000													5	52					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554630	140554630	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:140554630C>G	ENST00000231137.3	+	1	2388	c.2214C>G	c.(2212-2214)agC>agG	p.S738R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		738					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S738R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACTTGAGCGGCACCGGGA	0.617000													18	166					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212826	55212826	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:55212826A>G	ENST00000447346.2	+	15	2238	c.2173A>G	c.(2173-2175)Agt>Ggt	p.S725G	IL31RA_ENST00000490985.1_Missense_Mutation_p.S583G|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	693					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TTCTGGTCAAAGTTTAGTACC	0.468000													14	58					0	0	1	0	0
PIM2	11040	broad.mit.edu	37	X	48775900	48775900	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:48775900G>A	ENST00000376509.4	-	2	273	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	28					anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						ACTCGGCCTCGAACGCTTCCC	0.667000													6	45					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20966286	20966286	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:20966286C>A	ENST00000261383.3	-	55	10919	c.10920G>T	c.(10918-10920)cgG>cgT	p.R3640R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3640	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAGGTTGGCCCGGAGCCCTT	0.507000													20	119					7.45023e-12	9.98301e-12	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23509685	23509685	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:23509685A>T	ENST00000296682.3	+	3	358	c.176A>T	c.(175-177)aAt>aTt	p.N59I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	59	KRAB-related.				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						AGGAACTATAATGCACTGATT	0.433000										HNSCC(3;0.000094)			7	77					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649162	47649162	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:47649162C>G	ENST00000398742.2	+	5	712	c.663C>G	c.(661-663)ttC>ttG	p.F221L	GPR111_ENST00000296862.1_Missense_Mutation_p.F289L|GPR111_ENST00000507065.1_Missense_Mutation_p.F221L			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	289					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CAGATGTCTTCATTCATACTA	0.378000													15	65					0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70654905	70654905	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:70654905T>C	ENST00000370952.3	-	2	282	c.203A>G	c.(202-204)cAg>cGg	p.Q68R		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	68										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CGAAAGATTCTGATTAGCTTC	0.383000													8	62					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148759384	148759384	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:148759384C>G	ENST00000310053.5	-	20	2462	c.2269G>C	c.(2269-2271)Gat>Cat	p.D757H	HLTF_ENST00000392912.2_Missense_Mutation_p.D757H|HLTF_ENST00000494055.1_Missense_Mutation_p.D757H|HLTF_ENST00000465259.1_Missense_Mutation_p.D756H	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	757					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CATTCCTCATCTGAACCTGAG	0.353000													17	80					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54784519	54784519	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:54784519G>T	ENST00000218436.6	-	8	2017	c.1988C>A	c.(1987-1989)cCt>cAt	p.P663H		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	663					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TGGTTTCACAGGCCTTGATTT	0.532000													13	52					1.02788e-11	1.36646e-11	1	1	0
ADPRM	56985	broad.mit.edu	37	17	10608316	10608316	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:10608316G>A	ENST00000379774.4	+	2	164	c.73G>A	c.(73-75)Gat>Aat	p.D25N	ADPRM_ENST00000527582.2_Missense_Mutation_p.D25N	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent																		CGTCATCGCAGATGTTCAATT	0.428000													8	104					0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452801	64452801	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:64452801G>C	ENST00000394323.2	-	2	1104	c.604C>G	c.(604-606)Ctt>Gtt	p.L202V		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		202						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						aagatggtaagatttacagaa	0.448000													16	234					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44147449	44147449	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:44147449A>T	ENST00000223357.3	+	5	1086	c.781A>T	c.(781-783)Agc>Tgc	p.S261C		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	261	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCCACCCCCAAGCAGAAGGAG	0.682000													5	41					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38783430	38783430	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:38783430G>C	ENST00000359357.3	+	24	3123	c.2869G>C	c.(2869-2871)Gaa>Caa	p.E957Q	DNAH8_ENST00000449981.2_Missense_Mutation_p.E1174Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.E957Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAGAAGGAAGAAAGTAAGAA	0.378000													8	27					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12142258	12142258	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:12142258C>G	ENST00000263035.4	+	9	1815	c.1753C>G	c.(1753-1755)Caa>Gaa	p.Q585E		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	585					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTACTTGCTCAAGGTAAGAA	0.453000													16	140					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8638459	8638459	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:8638459C>T	ENST00000293845.3	-	6	1054	c.828G>A	c.(826-828)gaG>gaA	p.E276E	CCDC42_ENST00000539522.2_Silent_p.E202E	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	276										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CCTCAGTCACCTCCTTCAGGT	0.617000													6	51					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21975434	21975434	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:21975434C>G	ENST00000382254.1	-	6	1378	c.292G>C	c.(292-294)Gct>Cct	p.A98P	CDH12_ENST00000504376.2_Missense_Mutation_p.A98P|CDH12_ENST00000522262.1_Missense_Mutation_p.A98P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	98	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACGGTGCCAGCGCCATCTCCT	0.483000										HNSCC(59;0.17)			21	100					0	0	1	0	0
OLFML3	56944	broad.mit.edu	37	1	114523872	114523872	+	Silent	SNP	G	G	A	rs142935158	byFrequency	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:114523872G>A	ENST00000369551.1	+	4	930	c.642G>A	c.(640-642)gaG>gaA	p.E214E	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Silent_p.E214E|OLFML3_ENST00000320334.4_Silent_p.E234E			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	234	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGTGGTGAGATGGAGAACA	0.567000													6	76					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784571	32784571	+	Silent	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:32784571C>G	ENST00000342743.5	+	2	755	c.390C>G	c.(388-390)tcC>tcG	p.S130S		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	130						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GTGAGGTGTCCGTGGCCAGCT	0.622000													11	28					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999820	55999820	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:55999820C>A	ENST00000313264.4	-	1	917	c.842G>T	c.(841-843)gGa>gTa	p.G281V		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TAGGTGAGCTCCACATGTGGA	0.433000													19	124					2.4624e-09	3.13142e-09	1	1	0
MLIP	90523	broad.mit.edu	37	6	53989568	53989568	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:53989568G>A	ENST00000514921.1	+	3	630	c.517G>A	c.(517-519)Gat>Aat	p.D173N	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Missense_Mutation_p.D167N|MLIP_ENST00000370876.2_Missense_Mutation_p.D111N|MLIP_ENST00000370877.2_Missense_Mutation_p.D121N|MLIP_ENST00000274897.5_Missense_Mutation_p.D173N|MLIP_ENST00000509997.1_Missense_Mutation_p.D121N|MLIP_ENST00000502396.1_Missense_Mutation_p.D184N			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	173						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCTGGTCTCTGATGTAGTGCG	0.557000													7	47					0	0	1	0	0
NECAP1	25977	broad.mit.edu	37	12	8248226	8248226	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:8248226C>T	ENST00000339754.5	+	7	784	c.706C>T	c.(706-708)Cct>Tct	p.P236S		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	236					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		p.P236T(1)		cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TTCTCCTGCTCCTGTCACGAC	0.453000													14	93					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178417681	178417681	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:178417681G>A	ENST00000231188.5	-	4	1102	c.924C>T	c.(922-924)agC>agT	p.S308S	GRM6_ENST00000517717.1_Silent_p.S308S	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	308					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGGCTCCCCAGCTGTCTGAGC	0.672000													4	10					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62800635	62800635	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:62800635G>A	ENST00000512091.1	+	13	2733	c.1986G>A	c.(1984-1986)caG>caA	p.Q662Q	LPHN3_ENST00000508946.1_Silent_p.Q662Q|LPHN3_ENST00000506746.1_Silent_p.Q730Q|LPHN3_ENST00000504896.1_Silent_p.Q662Q|LPHN3_ENST00000509896.1_Silent_p.Q730Q|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000545650.1_Silent_p.Q662Q|LPHN3_ENST00000507625.1_Silent_p.Q730Q|LPHN3_ENST00000514996.1_Silent_p.Q662Q|LPHN3_ENST00000514591.1_Silent_p.Q662Q|LPHN3_ENST00000508693.1_Silent_p.Q730Q|LPHN3_ENST00000514157.1_Silent_p.Q662Q|LPHN3_ENST00000506720.1_Silent_p.Q730Q|LPHN3_ENST00000507164.1_Silent_p.Q730Q|LPHN3_ENST00000506700.1_Silent_p.Q662Q|LPHN3_ENST00000511324.1_Silent_p.Q730Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	649					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CGAGTGATCAGCTGCGTGCGG	0.468000													5	24					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673695	125673695	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:125673695G>C	ENST00000373659.3	-	2	745	c.657C>G	c.(655-657)atC>atG	p.I219M		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						CTACATGAAGGATACAAATTT	0.408000													7	34					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103341404	103341404	+	Silent	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:103341404T>C	ENST00000424685.2	-	9	1014	c.855A>G	c.(853-855)ttA>ttG	p.L285L	RELN_ENST00000343529.5_Silent_p.L285L|RELN_ENST00000428762.1_Silent_p.L285L			P78509	RELN_HUMAN	reelin	285					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTTGGCATATAACACGATGA	0.343000													29	81					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492577	74492577	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:74492577T>C	ENST00000354431.4	-	8	1986	c.1795A>G	c.(1795-1797)Aga>Gga	p.R599G	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R599G	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	599										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TCTTGAAGTCTTTCACAGGCT	0.308000													5	18					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	375892	375892	+	Missense_Mutation	SNP	C	C	T	rs150179643		TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:375892C>T	ENST00000342640.4	-	1	121	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	THEG_ENST00000346878.2_Missense_Mutation_p.G27S	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	27					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.G27S(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGGTCGCCGTCCTGCTCC	0.677000													22	46					0	0	1	0	0
PARP11	57097	broad.mit.edu	37	12	3921379	3921379	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:3921379G>A	ENST00000228820.4	-	8	1071	c.927C>T	c.(925-927)gaC>gaT	p.D309D	PARP11_ENST00000397096.2_Intron|PARP11_ENST00000447133.3_Silent_p.D228D|PARP11_ENST00000427057.2_Silent_p.D228D|PARP11_ENST00000476985.1_Intron	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	302	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			CCACACAGCTGTCATATAAAT	0.408000													7	89					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51150645	51150645	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:51150645C>G	ENST00000342995.2	+	1	879	c.777C>G	c.(775-777)agC>agG	p.S259R						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CTCGTCTAAGCCCTGAATCTG	0.701000													6	12					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3117083	3117083	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:3117083G>A	ENST00000355072.5	+	7	945	c.800G>A	c.(799-801)cGg>cAg	p.R267Q		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	267					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCACCATTCGGCGGACAGCG	0.468000													6	70					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315811	12315811	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:12315811G>A	ENST00000256186.2	+	3	1124	c.833G>A	c.(832-834)cGa>cAa	p.R278Q		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	278					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AATGCCATCCGAAGGTCTCTA	0.607000													12	81					0	0	1	0	0
NUTM2A-AS1	728190	broad.mit.edu	37	10	88975783	88975783	+	RNA	SNP	C	C	T	rs28533204	by1000genomes	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:88975783C>T	ENST00000451940.2	-	0	600																											CGCGGTCAGGCTGAGGCTAGC	0.597000													4	40					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67795367	67795367	+	Silent	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:67795367T>A	ENST00000262345.1	+	6	1402	c.762T>A	c.(760-762)ctT>ctA	p.L254L	IL12RB2_ENST00000371000.1_Silent_p.L254L|IL12RB2_ENST00000544434.1_Silent_p.L254L|IL12RB2_ENST00000541374.1_Silent_p.L254L	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	254	Fibronectin type-III 2.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TGGTACTGCTTAATCGACTCA	0.428000													11	72					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45891371	45891371	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:45891371C>A	ENST00000374391.2	+	3	471	c.418C>A	c.(418-420)Caa>Aaa	p.Q140K	ALOX5_ENST00000542434.1_Missense_Mutation_p.Q140K	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	140	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GGAAACACGGCAAAAACAATA	0.448000													14	36					2.32078e-09	2.97378e-09	1	1	0
POLE	5426	broad.mit.edu	37	12	133219462	133219462	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:133219462C>T	ENST00000320574.5	-	36	4715	c.4672G>A	c.(4672-4674)Gaa>Aaa	p.E1558K	POLE_ENST00000535270.1_Missense_Mutation_p.E1531K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1558					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGGTCAGTTTCTGCCCGAACT	0.597000								DNA polymerases (catalytic subunits)					12	113					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114804198	114804198	+	Splice_Site	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:114804198T>A	ENST00000310346.4	-	8	1422		c.e8-2		TBX5_ENST00000349716.5_Splice_Site|TBX5_ENST00000526441.1_Splice_Site|TBX5_ENST00000405440.2_Splice_Site	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5						cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TATTCTTTACTGAAAGAGAAA	0.507000													9	47					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128342362	128342362	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:128342362C>A	ENST00000389524.4	+	14	1617	c.1564C>A	c.(1564-1566)Ctc>Atc	p.L522I	MYO7B_ENST00000409816.2_Missense_Mutation_p.L522I|MYO7B_ENST00000428314.1_Missense_Mutation_p.L522I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	522	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGGGACAGATCTCACCATGCT	0.557000													16	82					2.35188e-11	3.11428e-11	1	1	0
MBTD1	54799	broad.mit.edu	37	17	49280558	49280558	+	Silent	SNP	A	A	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:49280558A>C	ENST00000586178.1	-	9	1114	c.771T>G	c.(769-771)gcT>gcG	p.A257A	MBTD1_ENST00000376381.2_Silent_p.A257A|MBTD1_ENST00000415868.1_Silent_p.A257A	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	257					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TCACTAGAAAAGCTTTCCAGT	0.308000													6	30					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135585006	135585006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:135585006G>T	ENST00000535601.1	+	6	1062	c.640G>T	c.(640-642)Gag>Tag	p.E214*	HTATSF1_ENST00000218364.4_Nonsense_Mutation_p.E214*	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	214	RRM 1.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					ATTACATGTTGAGGTGGCAAA	0.338000													6	52					2.7689e-08	3.4496e-08	1	1	0
SIX2	10736	broad.mit.edu	37	2	45233522	45233522	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:45233522C>A	ENST00000303077.6	-	2	982	c.663G>T	c.(661-663)acG>acT	p.T221T		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	221						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGTGGTCTGGCGTCCCCGATG	0.652000													30	124					1.61788e-16	2.253e-16	1	1	0
ATP11C	286410	broad.mit.edu	37	X	138880904	138880904	+	Splice_Site	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:138880904T>A	ENST00000370557.1	-	9	1738		c.e9-2		ATP11C_ENST00000361648.2_Splice_Site|ATP11C_ENST00000370543.1_Splice_Site|ATP11C_ENST00000359686.2_Splice_Site|ATP11C_ENST00000327569.3_Splice_Site			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C						ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CCCAAAGACCTAAATAAAAAA	0.383000													7	40					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117059645	117059645	+	Silent	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:117059645C>G	ENST00000355044.3	+	16	2643	c.2517C>G	c.(2515-2517)ggC>ggG	p.G839G		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	839	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGCTTCCTGGCGAACCCAATG	0.458000													5	64					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99460053	99460053	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:99460053G>A	ENST00000268035.6	+	10	2760	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	IGF1R_ENST00000558762.1_Missense_Mutation_p.E717K	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	717					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGAGGAGGCTGAATACCGCAA	0.547000													5	45					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563824	140563824	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:140563824C>A	ENST00000361016.2	+	1	2845	c.1690C>A	c.(1690-1692)Ccg>Acg	p.P564T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		564					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGCTGTACCCGCTGCAGAA	0.721000													13	127					3.45872e-05	3.91137e-05	1	1	0
SPATA9	83890	broad.mit.edu	37	5	95011240	95011240	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:95011240G>A	ENST00000274432.8	-	3	395	c.254C>T	c.(253-255)tCc>tTc	p.S85F	SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.S85F|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	85					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		TGATTTGGAGGATCTGGATAT	0.443000													10	57					0	0	1	0	0
OTOS	150677	broad.mit.edu	37	2	241078647	241078647	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:241078647G>C	ENST00000391989.2	-	5	440	c.210C>G	c.(208-210)ttC>ttG	p.F70L	OTOS_ENST00000319460.1_Missense_Mutation_p.F70L			Q8NHW6	OTOSP_HUMAN	otospiralin	70						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGTGGGCAAAGAAGGTTCGGG	0.637000													11	70					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692590	49692590	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:49692590G>A	ENST00000296452.4	+	5	5715	c.5601G>A	c.(5599-5601)atG>atA	p.M1867I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1867					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGGTGCAGATGGGAGAGGGCA	0.667000													11	33					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98609706	98609706	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:98609706C>G	ENST00000359863.4	+	72	11517	c.11308C>G	c.(11308-11310)Ctg>Gtg	p.L3770V	TRRAP_ENST00000446306.3_Missense_Mutation_p.L3759V|TRRAP_ENST00000355540.3_Missense_Mutation_p.L3741V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3770	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGATGGCATTCTGAAAACGGT	0.547000													5	66					0	0	1	0	0
RND3	390	broad.mit.edu	37	2	151326659	151326659	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:151326659C>A	ENST00000375734.2	-	5	826	c.577G>T	c.(577-579)Gcc>Tcc	p.A193S	RND3_ENST00000409557.1_Missense_Mutation_p.A64S|RND3_ENST00000263895.4_Missense_Mutation_p.A193S	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	193					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GCCAAGGTGGCAACGTGAAAA	0.433000													8	88					1.12685e-05	1.28511e-05	1	1	0
CES5A	221223	broad.mit.edu	37	16	55880516	55880516	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:55880516C>A	ENST00000521992.1	-	14	1807	c.1662G>T	c.(1660-1662)atG>atT	p.M554I	CES5A_ENST00000319165.9_Missense_Mutation_p.M475I|CES5A_ENST00000518005.1_Missense_Mutation_p.M419I|CES5A_ENST00000290567.9_Missense_Mutation_p.M525I|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Missense_Mutation_p.M495I	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	525						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTCCGAGGCTCATGTTCAAGT	0.527000													51	224					9.22156e-22	1.31402e-21	1	1	0
ZRSR1	7310	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	T	C	rs712666	by1000genomes	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:112227939T>C	ENST00000391338.1	+	1	627	c.603T>C	c.(601-603)tcT>tcC	p.S201S	REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000379638.4_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1									p.S201S(1)		breast(1)|skin(1)|stomach(2)	4						TCCCAACATCTAGTCCTACCC	0.453000													8	111					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122215283	122215283	+	Splice_Site	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:122215283C>T	ENST00000344337.6	-	2	306		c.e2+1			NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)						DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		AAAGGATTTACCTGCTCTTCT	0.388000													9	70					0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77632422	77632422	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:77632422G>A	ENST00000534064.1	-	14	1762	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L		NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	576					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GACTGTCTCGGAGGTAGGCAT	0.408000													12	71					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82849220	82849220	+	Silent	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:82849220A>G	ENST00000265077.3	+	11	10096	c.9531A>G	c.(9529-9531)caA>caG	p.Q3177Q	VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Silent_p.Q436Q|VCAN_ENST00000342785.4_Silent_p.Q1423Q|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Silent_p.Q1375Q|VCAN_ENST00000343200.5_Silent_p.Q2190Q	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3177	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACAAATTCCAAGGGCAGTGCT	0.512000													8	88					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78374209	78374209	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:78374209G>T	ENST00000238561.5	+	7	904	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	ADCK1_ENST00000341211.5_Missense_Mutation_p.G201W	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	276	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TGTGGATGGCGGGCAGGTCAA	0.592000													7	44					0.00198382	0.00208921	1	1	0
PLVAP	83483	broad.mit.edu	37	19	17476583	17476583	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:17476583C>A	ENST00000252590.4	-	3	752	c.691G>T	c.(691-693)Gac>Tac	p.D231Y		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	231						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCAAACTTGTCCTTGTCCAGG	0.582000													29	64					4.22769e-11	5.56536e-11	1	1	0
CHRNB4	1143	broad.mit.edu	37	15	78917399	78917399	+	Silent	SNP	A	A	G	rs1948	by1000genomes	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:78917399A>G	ENST00000412074.2	-	5	705	c.594T>C	c.(592-594)gcT>gcC	p.A198A	CHRNB4_ENST00000261751.3_3'UTR	NM_001256567.1	NP_001243496.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	0					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GGGCCTCATCAGCCACAACCC	0.602000													6	70					0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7075719	7075719	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:7075719G>C	ENST00000414706.1	+	4	558	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	ZNF557_ENST00000439035.2_Missense_Mutation_p.E22Q|ZNF557_ENST00000252840.6_Missense_Mutation_p.E29Q	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		AGAGGGCGGAGAGCTGGTTAA	0.517000													12	70					0	0	1	0	0
AGPAT1	10554	broad.mit.edu	37	6	32137744	32137744	+	Splice_Site	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:32137744C>T	ENST00000395499.1	-	6	1257	c.679_splice	c.e6+1	p.S226_splice	AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000375104.2_Splice_Site_p.S226_splice|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000412465.2_Splice_Site_p.S114_splice|AGPAT1_ENST00000395496.1_Splice_Site_p.S226_splice|AGPAT1_ENST00000375107.3_Splice_Site_p.S226_splice|AGPAT1_ENST00000395497.1_Splice_Site_p.S226_splice|AGPAT1_ENST00000336984.6_Splice_Site_p.S226_splice			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	226					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						AGCCCTCACCCGAGGTGAAGC	0.562000													4	44					0	0	1	0	0
HMMR	3161	broad.mit.edu	37	5	162900425	162900425	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:162900425G>T	ENST00000416990.2	+	9	918	c.421G>T	c.(421-423)Gcc>Tcc	p.A141S	HMMR_ENST00000393915.4_Missense_Mutation_p.A256S|HMMR_ENST00000432118.2_Missense_Mutation_p.A169S|HMMR_ENST00000353866.3_Missense_Mutation_p.A240S|HMMR_ENST00000358715.3_Missense_Mutation_p.A255S			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	255						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GCTAGATATTGCCCAGTTAGA	0.308000													10	47					3.07112e-06	3.55659e-06	1	1	0
BOC	91653	broad.mit.edu	37	3	112993295	112993295	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:112993295C>A	ENST00000495514.1	+	9	2012	c.1308C>A	c.(1306-1308)ggC>ggA	p.G436G	BOC_ENST00000355385.3_Silent_p.G436G|BOC_ENST00000273395.4_Silent_p.G436G			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	436					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCAAACTCGGCAACCCTGAGC	0.632000													25	80					1.1804e-14	1.62697e-14	1	1	0
TAB3	257397	broad.mit.edu	37	X	30864760	30864760	+	Splice_Site	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:30864760G>T	ENST00000378933.1	-	5	1889	c.1710_splice	c.e5-1	p.P571_splice	TAB3_ENST00000288422.2_Splice_Site_p.P571_splice|TAB3_ENST00000378928.1_Splice_Site_p.P22_splice|TAB3_ENST00000378930.3_Splice_Site_p.P571_splice|TAB3_ENST00000378932.2_Splice_Site_p.P571_splice	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	571					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						CATTTCCTCAGGCTAGTAAGA	0.373000													9	46					7.48243e-07	8.84764e-07	1	1	0
GOLGA3	2802	broad.mit.edu	37	12	133398682	133398682	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:133398682G>A	ENST00000204726.3	-	2	591	c.33C>T	c.(31-33)ctC>ctT	p.L11L	GOLGA3_ENST00000450791.2_Silent_p.L11L|GOLGA3_ENST00000456883.2_Silent_p.L11L|GOLGA3_ENST00000537452.1_Silent_p.L11L|GOLGA3_ENST00000545875.1_Silent_p.L11L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	11					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGTCCTCCTGGAGGCCATCTT	0.642000													7	44					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981644	61981644	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr20:61981644C>A	ENST00000370263.4	-	5	1340	c.1119G>T	c.(1117-1119)gaG>gaT	p.E373D	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	373					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TATGCATGGACTCGATGAGCC	0.672000													4	28					0.00909568	0.00943152	1	1	0
NDUFB11	54539	broad.mit.edu	37	X	47003895	47003895	+	Missense_Mutation	SNP	C	C	T	rs148785274		TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:47003895C>T	ENST00000377811.3	-	1	1008	c.184G>A	c.(184-186)Gag>Aag	p.E62K	NDUFB11_ENST00000276062.8_Missense_Mutation_p.E62K	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	62					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						TTTTCGTCCTCGGGTTCTGGG	0.667000											OREG0019755	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	40					0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898578	6898578	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:6898578G>A	ENST00000379829.2	+	1	723	c.700G>A	c.(700-702)Ggg>Agg	p.G234R		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTCAGCTGAGGGGAAACATCA	0.517000													21	93					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786115	19786115	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:19786115G>T	ENST00000341998.2	-	1	811	c.750C>A	c.(748-750)atC>atA	p.I250I	SLC24A2_ENST00000286344.3_Silent_p.I250I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	250					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TGATCAGCATGATCAAGTCAA	0.383000													16	58					0.000566183	0.000608624	1	1	0
ARL14EP	120534	broad.mit.edu	37	11	30352670	30352670	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:30352670C>T	ENST00000282032.3	+	2	390	c.175C>T	c.(175-177)Cat>Tat	p.H59Y		NM_152316.1	NP_689529.1			ADP-ribosylation factor-like 14 effector protein																		AATTTGCTTTCATCATGTAAA	0.313000													8	51					0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11504625	11504625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:11504625G>A	ENST00000379237.1	-	15	2696	c.2302C>T	c.(2302-2304)Caa>Taa	p.Q768*	USP6NL_ENST00000277575.5_Nonsense_Mutation_p.Q785*	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	768						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGTGCGAGTTGAAAGGCTGAG	0.498000													10	156					0	0	1	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106797629	106797629	+	Splice_Site	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:106797629A>T	ENST00000265717.4	+	10	1243		c.e10-1			NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta						activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TTGCCTTGTCAGGGTAAATCA	0.408000													29	58					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101747931	101747931	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr13:101747931C>A	ENST00000251127.6	-	28	3344	c.3263G>T	c.(3262-3264)cGt>cTt	p.R1088L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1088						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTACCAAACACGGGGCACCCA	0.328000													6	41					0.00116845	0.00124216	1	1	0
DOK6	220164	broad.mit.edu	37	18	67508560	67508560	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr18:67508560C>A	ENST00000382713.5	+	8	1127	c.937C>A	c.(937-939)Cag>Aag	p.Q313K		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	313							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGAGGCCCAGCAGCCGTTGTC	0.537000													27	86					9.39395e-14	1.27909e-13	1	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27998992	27998992	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:27998992G>T	ENST00000441525.1	-	1	574	c.460C>A	c.(460-462)Cgc>Agc	p.R154S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	154										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ACTTGCCAGCGAGATCGGGGC	0.567000													5	28					0.0293803	0.0300036	1	1	0
SRCIN1	80725	broad.mit.edu	37	17	36714551	36714551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:36714551C>A	ENST00000264659.7	-	11	2337	c.2113G>T	c.(2113-2115)Gag>Tag	p.E705*	SRCIN1_ENST00000578925.1_Nonsense_Mutation_p.E739*|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	577				V -> M (in Ref. 6; AA sequence).	exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGCGGGTCCTCCTGCCGCCGC	0.677000											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	43					3.45872e-05	3.91137e-05	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													6	80					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18165421	18165421	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr20:18165421C>G	ENST00000278816.2	+	10	2810	c.2160C>G	c.(2158-2160)atC>atG	p.I720M	CSRP2BP_ENST00000435364.2_Missense_Mutation_p.I720M|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.I719M|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.I592M			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	720	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CTTTCATGATCTATCATCTGA	0.433000													8	79					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216424381	216424381	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:216424381C>A	ENST00000366943.2	-	12	2417	c.2031G>T	c.(2029-2031)caG>caT	p.Q677H	USH2A_ENST00000366942.3_Missense_Mutation_p.Q677H|USH2A_ENST00000307340.3_Missense_Mutation_p.Q677H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	677	Laminin EGF-like 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAATCCATTCTGGCACTGAT	0.438000										HNSCC(13;0.011)			5	37					0.014758	0.015256	1	1	0
PAPD4	167153	broad.mit.edu	37	5	78919085	78919085	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:78919085G>A	ENST00000453514.1	+	4	931	c.238G>A	c.(238-240)Gat>Aat	p.D80N	PAPD4_ENST00000504233.1_Missense_Mutation_p.D80N|PAPD4_ENST00000428308.2_Missense_Mutation_p.D80N|PAPD4_ENST00000423041.2_Missense_Mutation_p.D80N|PAPD4_ENST00000296783.3_Missense_Mutation_p.D80N	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	80					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	p.D80N(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GAGATTAAGCGATGAAAAAAA	0.343000													10	37					0	0	1	0	0
ARSK	153642	broad.mit.edu	37	5	94903690	94903690	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:94903690G>A	ENST00000380009.4	+	3	558	c.353G>A	c.(352-354)aGg>aAg	p.R118K		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	118						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GTCATGGAGAGGCATGGCTAC	0.393000													4	33					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335398	20335398	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:20335398C>G	ENST00000302555.5	-	3	424	c.275G>C	c.(274-276)tGg>tCg	p.W92S	GP2_ENST00000381362.4_Missense_Mutation_p.W92S|GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	92						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AAAGCGGTACCAGCCGCTCAT	0.562000													6	94					0	0	1	0	0
TRAF6	7189	broad.mit.edu	37	11	36512104	36512104	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:36512104C>G	ENST00000526995.1	-	7	1099	c.853G>C	c.(853-855)Gac>Cac	p.D285H	TRAF6_ENST00000348124.5_Missense_Mutation_p.D285H|TRAF6_ENST00000529150.1_5'UTR	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	285	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TACCCAGAGTCGGGTATAACG	0.493000													15	129					0	0	1	0	0
MOK	5891	broad.mit.edu	37	14	102732201	102732201	+	Silent	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:102732201C>G	ENST00000361847.2	-	3	402	c.171G>C	c.(169-171)ctG>ctC	p.L57L	MOK_ENST00000524214.1_Intron|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Silent_p.L57L	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	57	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding										GGTGCGGATTCAGGCGCCTCA	0.363000													12	86					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7626322	7626322	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:7626322G>T	ENST00000338316.4	+	4	702	c.613G>T	c.(613-615)Gga>Tga	p.G205*		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	205				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAACCTGGCGGGAGCCTACCA	0.443000													24	84					3.01185e-09	3.81576e-09	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24923243	24923243	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:24923243A>T	ENST00000329468.2	+	1	2703	c.2229A>T	c.(2227-2229)caA>caT	p.Q743H		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTCAGTCCAAGGCTCCACCA	0.557000													18	129					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130219638	130219638	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:130219638G>T	ENST00000276211.5	+	8	1377	c.1032G>T	c.(1030-1032)ctG>ctT	p.L344L	ARHGAP36_ENST00000370921.1_Silent_p.L208L|ARHGAP36_ENST00000370922.1_Silent_p.L332L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	344	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GTGATACCCTGGAGCGTCTGC	0.498000													31	290					5.09552e-08	6.27857e-08	1	1	0
HS3ST2	9956	broad.mit.edu	37	16	22826255	22826255	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:22826255G>T	ENST00000261374.3	+	1	758	c.324G>T	c.(322-324)aaG>aaT	p.K108N		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	108						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GCTCACCCAAGCTGGGTACCA	0.726000													3	14					0.150653	0.151779	1	1	0
NES	10763	broad.mit.edu	37	1	156642365	156642365	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:156642365C>T	ENST00000368223.3	-	4	1747	c.1615G>A	c.(1615-1617)Gtt>Att	p.V539I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	539	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCAAAGGAACCTGGGAGTCC	0.463000													7	73					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150839611	150839611	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:150839611G>A	ENST00000370357.4	+	12	1418	c.1173G>A	c.(1171-1173)ctG>ctA	p.L391L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	391						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGTTGCTGCATGATGCCA	0.453000													31	114					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49425027	49425027	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:49425027G>A	ENST00000301067.7	-	39	13460	c.13461C>T	c.(13459-13461)atC>atT	p.I4487I		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGTGCCCGTTGATCTCAGCTC	0.587000													11	139					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194126747	194126747	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:194126747G>T	ENST00000439040.1	-	33	4373	c.3582C>A	c.(3580-3582)ctC>ctA	p.L1194L	ATP13A3_ENST00000256031.4_Silent_p.L1194L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1194					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GATCAACCAAGAGCTCCTGCG	0.478000													8	71					5.18039e-06	5.98899e-06	1	1	0
OASL	8638	broad.mit.edu	37	12	121471372	121471372	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:121471372C>A	ENST00000257570.5	-	2	643	c.373G>T	c.(373-375)Gac>Tac	p.D125Y	OASL_ENST00000339275.5_Missense_Mutation_p.D125Y	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	125					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATCCTCAGGTCCTCGAGCCCG	0.587000													16	93					1.67942e-08	2.10395e-08	1	1	0
SLC12A6	9990	broad.mit.edu	37	15	34528917	34528917	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:34528917C>T	ENST00000354181.3	-	23	3526	c.3034G>A	c.(3034-3036)Gac>Aac	p.D1012N	SLC12A6_ENST00000451844.2_Missense_Mutation_p.D824N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D961N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D824N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D997N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D1012N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D1003N|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D953N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D1012N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D953N			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1012					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	ACCTCTCTGTCTCGCTCTGTT	0.498000													7	70					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22184817	22184817	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:22184817G>A	ENST00000344041.6	-	20	1884	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	RAPGEF5_ENST00000401957.2_Silent_p.F374F	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	374	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CCTGTCTGCTGAACGTGAAGT	0.448000													3	18					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108624949	108624949	+	Silent	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:108624949A>T	ENST00000264047.2	+	8	1200	c.924A>T	c.(922-924)ccA>ccT	p.P308P	SLC5A7_ENST00000409059.1_Silent_p.P308P|SLC5A7_ENST00000540517.1_Silent_p.P203P	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	308					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGGGCTTCCAGATCCCAAGA	0.428000													8	24					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730792	140730792	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:140730792T>C	ENST00000523390.1	+	1	965	c.965T>C	c.(964-966)gTa>gCa	p.V322A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGAGGAGTACACACAGCT	0.418000													8	49					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189843	7189843	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:7189843G>A	ENST00000317370.8	+	11	1693	c.1425G>A	c.(1423-1425)acG>acA	p.T475T		NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	475					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GAGGCCGGACGTTTGACCAGA	0.527000													41	337					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115091253	115091253	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr13:115091253A>G	ENST00000361283.1	+	3	2245	c.1936A>G	c.(1936-1938)Att>Gtt	p.I646V		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	646	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TGCGATGGATATTAAGGGCCA	0.418000													8	45					0	0	1	0	0
KRTAP20-2	337976	broad.mit.edu	37	21	32007760	32007760	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr21:32007760T>C	ENST00000330798.2	+	1	206	c.178T>C	c.(178-180)Tgg>Cgg	p.W60R		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	60						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGGAAGATACTGGTCCTGTGG	0.493000													15	172					0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60708653	60708653	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:60708653G>C	ENST00000227880.3	-	5	1450	c.1217C>G	c.(1216-1218)tCt>tGt	p.S406C		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	406					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CTGCAGAGCAGAGGGAAGCAG	0.587000													8	35					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58915106	58915106	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:58915106A>T	ENST00000423743.3	+	8	982	c.724A>T	c.(724-726)Agt>Tgt	p.S242C	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Missense_Mutation_p.S271C|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S286C|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S339C	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	286										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAGCCTGTTAGTATGCCCTC	0.338000													6	69					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969444	47969444	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:47969444C>T	ENST00000236877.6	-	2	612	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	73					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AAGTACACCACTGCCCGTGCC	0.637000													21	37					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56274597	56274597	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:56274597C>A	ENST00000225371.5	+	7	1209	c.1099C>A	c.(1099-1101)Cgc>Agc	p.R367S		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	367					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCGCTCGGCGCGCATCCCCTG	0.627000													11	78					5.50884e-06	6.34693e-06	1	1	0
LRTM2	654429	broad.mit.edu	37	12	1940449	1940449	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:1940449C>G	ENST00000543818.1	+	4	1258	c.416C>G	c.(415-417)tCg>tGg	p.S139W	LRTM2_ENST00000299194.1_Missense_Mutation_p.S139W|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.S139W|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	139						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTGCGGCACTCGCCGCTGCTC	0.652000													8	72					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84199417	84199417	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:84199417G>T	ENST00000378553.5	+	7	1016	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.G298W	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	298					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGCTAGGGGAGGGTACGCAGC	0.512000													9	118					1.12685e-05	1.28511e-05	1	1	0
MYO16	23026	broad.mit.edu	37	13	109793570	109793570	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr13:109793570G>C	ENST00000356711.2	+	32	5070	c.4944G>C	c.(4942-4944)agG>agC	p.R1648S	MYO16_ENST00000357550.2_Missense_Mutation_p.R1648S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1648	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGGACGCCAGGAAGGCCGGCT	0.692000													8	52					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79028813	79028813	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:79028813G>A	ENST00000446378.2	+	2	4256	c.4225G>A	c.(4225-4227)Gaa>Aaa	p.E1409K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1409						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATCTGCAGATGAACATTCAGT	0.418000													5	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437106	179437106	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:179437106C>G	ENST00000589042.1	-	326	73977	c.73753G>C	c.(73753-73755)Gaa>Caa	p.E24585Q	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E15520Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15645Q|TTN_ENST00000342992.6_Missense_Mutation_p.E22017Q|TTN_ENST00000342175.6_Missense_Mutation_p.E15712Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E22944Q|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22944	Ig-like 122.						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)			CTACAGCCTTCTTGAAGCTGG	0.438000													10	22					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77612412	77612412	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:77612412C>T	ENST00000461745.1	+	11	2514	c.1614C>T	c.(1612-1614)gtC>gtT	p.V538V	ROBO2_ENST00000332191.8_Silent_p.V538V|ROBO2_ENST00000487694.3_Silent_p.V554V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	538	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGAACAGTGTCACCTTGTCCT	0.478000													7	53					0	0	1	0	0
ROM1	6094	broad.mit.edu	37	11	62381161	62381161	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:62381161C>A	ENST00000278833.3	+	1	949	c.408C>A	c.(406-408)ggC>ggA	p.G136G	ROM1_ENST00000534093.1_Intron	NM_000327.3	NP_000318.1	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	136					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						TGGAGGAGGGCCTGGTGACTG	0.657000													10	87					1.76689e-08	2.20534e-08	1	1	0
CCDC51	79714	broad.mit.edu	37	3	48476263	48476263	+	Silent	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:48476263G>C	ENST00000395694.2	-	2	361	c.276C>G	c.(274-276)ctC>ctG	p.L92L	CCDC51_ENST00000447018.1_5'UTR|CCDC51_ENST00000412398.2_5'UTR|CCDC51_ENST00000442740.1_5'UTR|CCDC51_ENST00000395696.1_Silent_p.L92L	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	92						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAACCTCGTTGAGTCCAACAA	0.597000													13	88					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33334733	33334733	+	Silent	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr13:33334733A>T	ENST00000315596.10	+	30	3579	c.3393A>T	c.(3391-3393)ctA>ctT	p.L1131L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1131					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CCAATGTTCTAGGAGCTGTTA	0.378000													5	53					0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15443997	15443997	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:15443997C>A	ENST00000295297.4	+	3	724	c.465C>A	c.(463-465)tcC>tcA	p.S155S	C1QTNF7_ENST00000429690.1_Silent_p.S148S|C1QTNF7_ENST00000444304.2_Silent_p.S148S	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	148	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TGCTCAAATCCGCCTTTTCTG	0.512000													25	253					1.75199e-13	2.37116e-13	1	1	0
CNIH2	254263	broad.mit.edu	37	11	66050518	66050518	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:66050518G>A	ENST00000528852.1	+	4	478	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	CNIH2_ENST00000530519.1_3'UTR|CNIH2_ENST00000311445.6_Missense_Mutation_p.E71K			Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	71					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						GGTGGTCCCAGAATACTCCAT	0.597000											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	101					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7848292	7848292	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:7848292G>A	ENST00000329913.3	-	1	80	c.33C>T	c.(31-33)agC>agT	p.S11S		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	11					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTAACAGGAAGCTGAAAGCCA	0.517000													10	31					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4470692	4470692	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:4470692G>T	ENST00000325719.4	+	1	168	c.123G>T	c.(121-123)ctG>ctT	p.L41L		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACTGGCCCTGCTTGGAAACT	0.532000													24	135					3.5997e-14	4.9313e-14	1	1	0
PTPRE	5791	broad.mit.edu	37	10	129859976	129859976	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:129859976C>G	ENST00000254667.3	+	9	901	c.622C>G	c.(622-624)Caa>Gaa	p.Q208E	PTPRE_ENST00000419012.2_Missense_Mutation_p.Q208E|PTPRE_ENST00000306042.5_Missense_Mutation_p.Q150E|PTPRE_ENST00000430713.2_3'UTR	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	208	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CATAGCAGCTCAAGGTAAGCT	0.313000													5	30					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66270112	66270112	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:66270112G>A	ENST00000273854.3	-	8	2370	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	EPHA5_ENST00000354839.4_Silent_p.I590I|EPHA5_ENST00000432638.2_Silent_p.I427I|EPHA5_ENST00000511294.1_Silent_p.I591I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	590					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGAGGACGCCGATAACCACTG	0.488000										TSP Lung(17;0.13)			7	37					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998738	120998738	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:120998738A>G	ENST00000273666.6	+	19	2316	c.2045A>G	c.(2044-2046)tAt>tGt	p.Y682C	STXBP5L_ENST00000472879.1_Missense_Mutation_p.Y682C|STXBP5L_ENST00000471454.1_Missense_Mutation_p.Y682C|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Y682C|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Y682C	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	682					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTGACCTATATAGATCAAGT	0.403000													6	58					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156786043	156786043	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:156786043A>T	ENST00000347377.6	+	24	3135	c.2704A>T	c.(2704-2706)Agc>Tgc	p.S902C	CYFIP2_ENST00000435847.2_Missense_Mutation_p.S601C|CYFIP2_ENST00000377576.3_Missense_Mutation_p.S902C|CYFIP2_ENST00000541131.1_Missense_Mutation_p.S827C|CYFIP2_ENST00000521420.1_Missense_Mutation_p.S876C|CYFIP2_ENST00000318218.6_Missense_Mutation_p.S927C|CYFIP2_ENST00000442283.2_Missense_Mutation_p.Q186L|CYFIP2_ENST00000522463.1_Missense_Mutation_p.S706C	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	927					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCACATCTACAGCTCCTACAG	0.502000													42	158					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845053	248845053	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:248845053G>T	ENST00000342623.3	-	1	576	c.553C>A	c.(553-555)Ctg>Atg	p.L185M		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CAGGAAACCAGGGCCAACACA	0.498000													5	33					0.000602214	0.000644274	1	1	0
DNAJC13	23317	broad.mit.edu	37	3	132213055	132213055	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:132213055C>T	ENST00000260818.6	+	34	4141	c.3893C>T	c.(3892-3894)tCa>tTa	p.S1298L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1298							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CCTATGATGTCAATAGATGAT	0.373000													5	59					0	0	1	0	0
VEGFB	7423	broad.mit.edu	37	11	64005040	64005040	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:64005040A>C	ENST00000309422.2	+	6	855	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	VEGFB_ENST00000426086.2_Missense_Mutation_p.D153A	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	187					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						CAGCGCCCTGACCCCCGGACC	0.706000													6	17					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195166	19195166	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:19195166C>T	ENST00000562034.1	+	3	4263	c.465C>T	c.(463-465)tcC>tcT	p.S155S	SYT17_ENST00000562711.2_Silent_p.S212S|SYT17_ENST00000355377.2_Silent_p.S216S|SYT17_ENST00000568115.1_Silent_p.S155S			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	216						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CTCCCATCTCCCACGATGGCT	0.612000													17	162					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1467115	1467115	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:1467115G>A	ENST00000308219.9	+	12	1590	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	BRSK2_ENST00000528841.1_Missense_Mutation_p.E402K|BRSK2_ENST00000308230.5_Missense_Mutation_p.E402K|BRSK2_ENST00000382179.1_Missense_Mutation_p.E448K|BRSK2_ENST00000544817.1_Missense_Mutation_p.E97K|BRSK2_ENST00000531197.1_Missense_Mutation_p.E402K|BRSK2_ENST00000528710.1_Missense_Mutation_p.E342K|BRSK2_ENST00000526678.1_Missense_Mutation_p.E402K	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	402					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCGGGCCATTGAGATGGCCCA	0.716000													24	77					0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376546	75376546	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:75376546C>T	ENST00000555647.1	-	8	1257	c.970G>A	c.(970-972)Ggc>Agc	p.G324S	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G324S|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G324S|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G293S			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	324	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TGCAGGTGGCCACCTGGGGCC	0.682000													4	19					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164716358	164716358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:164716358G>A	ENST00000264382.3	-	38	4572	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1504	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTGTCCCATCGTGCATAGTTG	0.403000										HNSCC(35;0.089)			10	75					0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45148877	45148877	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr13:45148877T>A	ENST00000458659.2	-	1	1824	c.1334A>T	c.(1333-1335)aAt>aTt	p.N445I	TSC22D1_ENST00000501704.2_Missense_Mutation_p.N445I	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	445					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CACCACTTTATTTATCAGCAC	0.418000													45	96					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223574	25223574	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:25223574C>A	ENST00000444203.2	+	8	1757	c.718C>A	c.(718-720)Cgt>Agt	p.R240S	SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400100.1_Missense_Mutation_p.R236S|SNRPN_ENST00000390687.4_Missense_Mutation_p.R236S|SNRPN_ENST00000400098.1_Missense_Mutation_p.R236S|SNRPN_ENST00000554227.2_Missense_Mutation_p.R240S|SNRPN_ENST00000400097.1_Missense_Mutation_p.R236S|SNRPN_ENST00000577565.1_Missense_Mutation_p.R236S|SNRPN_ENST00000346403.6_Missense_Mutation_p.R236S			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	236					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCCAGGAATGCGTCCACCAAG	0.458000									Prader-Willi syndrome				14	180					4.3838e-07	5.2481e-07	1	1	0
ACTR3	10096	broad.mit.edu	37	2	114691893	114691893	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:114691893A>C	ENST00000263238.2	+	6	790	c.470A>C	c.(469-471)cAa>cCa	p.Q157P	ACTR3_ENST00000535589.2_Missense_Mutation_p.Q106P|ACTR3_ENST00000536059.1_Missense_Mutation_p.Q95P	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	157					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						ACCTCAAGACAAGTAGGAGAA	0.398000													16	148					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43585711	43585711	+	Silent	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:43585711G>C	ENST00000452443.2	-	2	133	c.129C>G	c.(127-129)ctC>ctG	p.L43L		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	43					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	AGCTCAGCCGGAGGTAGAAGG	0.632000													21	136					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271471	22271471	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:22271471A>C	ENST00000594947.1	+	4	1063	c.919A>C	c.(919-921)Aag>Cag	p.K307Q		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TACTCAACATAAGAGAATTCA	0.398000													13	37					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043303	56043303	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:56043303G>T	ENST00000313033.2	+	1	275	c.189G>T	c.(187-189)ggG>ggT	p.G63G		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CGATCATTGGGGATTTCTGGC	0.358000													13	53					0.00010058	0.000111315	1	1	0
MUC16	94025	broad.mit.edu	37	19	9083443	9083443	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:9083443C>T	ENST00000397910.4	-	1	8575	c.8372G>A	c.(8371-8373)gGa>gAa	p.G2791E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2791	Ser-rich.|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						ACCCTGGCTTCCTGTGGTTAG	0.498000													5	18					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2411157	2411157	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr20:2411157A>G	ENST00000202625.2	+	11	1805	c.1744A>G	c.(1744-1746)Atc>Gtc	p.I582V	TGM6_ENST00000381423.1_Missense_Mutation_p.I582V	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	582					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGACAAGAAGATCCTGTTGGC	0.468000													11	74					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48433491	48433491	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:48433491C>A	ENST00000017003.2	+	7	1400	c.1351C>A	c.(1351-1353)Ctc>Atc	p.L451I	XYLT2_ENST00000507602.1_Missense_Mutation_p.L451I	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	451					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CTGTGAGACCCTCGTGGACAA	0.612000													9	81					1.12685e-05	1.28511e-05	1	1	0
NDUFB5	4711	broad.mit.edu	37	3	179334811	179334811	+	Silent	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:179334811A>G	ENST00000493866.1	+	2	190	c.165A>G	c.(163-165)ccA>ccG	p.P55P	NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.P95P|NDUFB5_ENST00000259037.3_Silent_p.P107P	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	107					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	GCTATGTCCCAGAACACTGGG	0.318000													4	35					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35377692	35377692	+	Splice_Site	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:35377692G>C	ENST00000378495.3	+	15	2038	c.1816_splice	c.e15+1	p.V606_splice	UNC13B_ENST00000378496.4_Splice_Site_p.V606_splice|UNC13B_ENST00000396787.1_Splice_Site_p.V618_splice	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	606	C2 2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CACCATTACTGGTGAGCAGGC	0.537000													9	22					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47182310	47182310	+	Splice_Site	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:47182310C>T	ENST00000447411.1	-	3	417		c.e3+1		SLC38A4_ENST00000266579.4_Splice_Site	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4						cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GATTCACTTACGTGTTCATCA	0.408000													10	57					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116381156	116381156	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:116381156C>T	ENST00000606080.1	-	1	765	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	107	SH3.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		CTTCTGTCCTCAGCCACGTAG	0.463000													12	152					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24257809	24257809	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:24257809C>G	ENST00000538205.1	+	12	1448	c.901C>G	c.(901-903)Ctg>Gtg	p.L301V	ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.L380V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.L301V	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	380	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAATCAGTATCTGAGGTGAGA	0.383000													8	40					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81145944	81145944	+	RNA	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:81145944C>G	ENST00000533478.1	-	0	4862				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCAAGGGCGGCATCGGCTGCT	0.532000													7	49					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38850692	38850692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:38850692G>A	ENST00000359357.3	+	52	7468	c.7214G>A	c.(7213-7215)tGg>tAg	p.W2405*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.W2622*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W2369*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATAGGTGATTGGGAGCACTGG	0.289000													11	72					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29654691	29654691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:29654691C>T	ENST00000358273.4	+	38	5826	c.5443C>T	c.(5443-5445)Cag>Tag	p.Q1815*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1794*|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1815					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.Q1815*(1)|p.H1814fs*43(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTTCATGCACCAGGAGTGTGA	0.493000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			15	122					0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33529522	33529522	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr20:33529522G>A	ENST00000216951.2	-	6	700	c.602C>T	c.(601-603)tCa>tTa	p.S201L	GSS_ENST00000451957.2_Intron|GSS_ENST00000541098.1_Missense_Mutation_p.S73L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	201					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TTACTTGGGTGAGCCGTAGAG	0.483000													7	65					0	0	1	0	0
POLE4	56655	broad.mit.edu	37	2	75186537	75186537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:75186537C>T	ENST00000483063.1	+	2	471	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	POLE4_ENST00000459636.1_3'UTR	NM_019896.2	NP_063949.2	Q9NR33	DPOE4_HUMAN	polymerase (DNA-directed), epsilon 4, accessory subunit	95					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding			lung(1)	1						GAAAACCCTTCAGAGGAGAGA	0.493000													12	35					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43833482	43833482	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:43833482C>A	ENST00000389420.3	-	18	2535	c.2536G>T	c.(2536-2538)Gac>Tac	p.D846Y	ADAMTS20_ENST00000395541.2_5'UTR|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D846Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	846	Spacer.|TSP type-1 2.					proteinaceous extracellular matrix	zinc ion binding	p.D846N(1)		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)		GTGAACATGTCACTCCTCTCT	0.408000													5	56					3.59834e-05	4.04888e-05	1	1	0
ZNF281	23528	broad.mit.edu	37	1	200376921	200376921	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:200376921G>A	ENST00000294740.2	-	2	2037	c.1913C>T	c.(1912-1914)tCa>tTa	p.S638L	ZNF281_ENST00000367353.1_Missense_Mutation_p.S638L|ZNF281_ENST00000367352.3_Missense_Mutation_p.S602L	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	638					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GTGTTCTCCTGAGGTGTGTAA	0.388000													7	62					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135024141	135024141	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:135024141A>T	ENST00000304613.3	+	21	3842	c.3821A>T	c.(3820-3822)cAg>cTg	p.Q1274L	KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1276L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1274	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGTTATGTGCAGCAATTCCTC	0.637000													26	264					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228470	3228470	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:3228470G>T	ENST00000217939.6	-	7	7928	c.7774C>A	c.(7774-7776)Cgc>Agc	p.R2592S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2592	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGTAGAAGCGCTGCAGCTGC	0.657000													4	23					0.014758	0.015256	1	1	0
C2orf47	79568	broad.mit.edu	37	2	200820957	200820957	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:200820957G>A	ENST00000295079.2	+	2	758	c.436G>A	c.(436-438)Gag>Aag	p.E146K	C2orf47_ENST00000392290.1_Missense_Mutation_p.E146K	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	146						mitochondrion				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						AGAGTTCTCCGAGGGAGCGAA	0.468000													16	151					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072723	134072723	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:134072723C>G	ENST00000264360.4	+	1	2254	c.1428C>G	c.(1426-1428)aaC>aaG	p.N476K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	476	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGAAAACAACGTGCCTGGCG	0.597000													16	85					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48142704	48142704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:48142704C>T	ENST00000418331.2	+	4	854	c.502C>T	c.(502-504)Caa>Taa	p.Q168*	PTPRJ_ENST00000440289.2_Nonsense_Mutation_p.Q168*	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	168	Fibronectin type-III 1.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGTTGTGCATCAACCATGGTG	0.413000													18	66					0	0	1	0	0
IGHV3-16	28447	broad.mit.edu	37	14	106622078	106622078	+	RNA	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:106622078G>T	ENST00000390604.2	-	0	240																											AGCCTTGCGGGCCCAGTTCAT	0.582000													46	225					6.81593e-30	9.87944e-30	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86921073	86921073	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:86921073G>C	ENST00000370565.4	+	14	2857	c.2695G>C	c.(2695-2697)Gat>Cat	p.D899H		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	899					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.D899N(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACCTGCCAGAGATTATCTTAT	0.398000													33	183					0	0	1	0	0
STAM2	10254	broad.mit.edu	37	2	152977294	152977294	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:152977294T>G	ENST00000263904.4	-	14	1721	c.1372A>C	c.(1372-1374)Aat>Cat	p.N458H		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	458					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TAAGTAGGATTGGAAACAGTG	0.348000													10	81					0	0	1	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253806	32253806	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr21:32253806C>A	ENST00000332378.4	-	1	68	c.38G>T	c.(37-39)aGg>aTg	p.R13M		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	13						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						TCCAATGGGCCTGGAAGAGCA	0.532000													11	68					0.0931896	0.0944508	1	1	0
OR2K2	26248	broad.mit.edu	37	9	114090556	114090556	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:114090556G>C	ENST00000374428.1	-	1	244	c.245C>G	c.(244-246)tCa>tGa	p.S82*	OR2K2_ENST00000302681.1_Nonsense_Mutation_p.S53*			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TTTAAGGCGTGAATCTAGGAT	0.428000													18	62					0	0	1	0	0
PPP3CC	5533	broad.mit.edu	37	8	22384988	22384988	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:22384988A>T	ENST00000240139.5	+	9	1354	c.1027A>T	c.(1027-1029)Atg>Ttg	p.M343L	PPP3CC_ENST00000397775.3_Missense_Mutation_p.M343L|PPP3CC_ENST00000289963.8_Missense_Mutation_p.M343L	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	343					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TCCAAACTTTATGGATGTTTT	0.383000													20	119					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673918	125673918	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:125673918G>A	ENST00000373659.3	-	2	522	c.434C>T	c.(433-435)tCt>tTt	p.S145F		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						AGGATCAGAAGACTGACACAG	0.343000													10	48					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1488606	1488606	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:1488606C>A	ENST00000345913.4	+	9	1668	c.1577C>A	c.(1576-1578)cCa>cAa	p.P526Q	TPO_ENST00000382201.3_Missense_Mutation_p.P526Q|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.P353Q|TPO_ENST00000346956.3_Missense_Mutation_p.P526Q|TPO_ENST00000382198.1_Missense_Mutation_p.P353Q|TPO_ENST00000337415.3_Missense_Mutation_p.P526Q|TPO_ENST00000329066.4_Missense_Mutation_p.P526Q	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	526					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCTTCAGCCCATGGACATTA	0.542000													7	81					8.12818e-05	9.01052e-05	1	1	0
KNSTRN	90417	broad.mit.edu	37	15	40675159	40675159	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:40675159C>A	ENST00000416151.2	+	1	238	c.123C>A	c.(121-123)gcC>gcA	p.A41A	KNSTRN_ENST00000249776.8_Silent_p.A41A|KNSTRN_ENST00000448395.2_Silent_p.A41A	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CCCAGGCGGCCGACTTAGCCG	0.587000													10	111					1.58986e-06	1.86684e-06	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153175079	153175079	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:153175079G>T	ENST00000340592.5	+	14	2387	c.2314G>T	c.(2314-2316)Gtc>Ttc	p.V772F	GRIA1_ENST00000448073.4_Missense_Mutation_p.V782F|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000285900.5_Intron	NM_001114183.1|NM_001258020.1	NP_001107655.1|NP_001244949.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	772					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGAGCAAGGCGTCTTAGACAA	0.448000													11	24					1.61879e-10	2.11447e-10	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158590172	158590172	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:158590172G>T	ENST00000368148.3	-	44	6385	c.6205C>A	c.(6205-6207)Cct>Act	p.P2069T	SPTA1_ENST00000368147.3_Missense_Mutation_p.P2066T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2069					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGTGCACAGGCTCTGACAAG	0.468000													10	51					2.17888e-05	2.47233e-05	1	1	0
TRAF2	7186	broad.mit.edu	37	9	139814713	139814713	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:139814713G>A	ENST00000359662.3	+	8	907	c.862G>A	c.(862-864)Gag>Aag	p.E288K	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.E236K|TRAF2_ENST00000247668.2_Missense_Mutation_p.E236K			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	236	Important for interaction with BIRC2 and BIRC3 (By similarity).			Missing (in Ref. 2; BAB70792).	activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GCAGGAGCACGAGGTGCAGTG	0.662000													9	32					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20651252	20651252	+	RNA	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:20651252C>A	ENST00000428453.1	-	0	2385																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCAGAAGCACCTTGAGCAGAA	0.507000													6	68					0.00448238	0.00466944	1	1	0
C6orf222	389384	broad.mit.edu	37	6	36298089	36298089	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:36298089C>T	ENST00000437635.2	-	2	556	c.379G>A	c.(379-381)Gag>Aag	p.E127K		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	127										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GAGATACCCTCCTTCCCCCTT	0.617000													8	118					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155883978	155883978	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:155883978C>G	ENST00000368321.3	-	14	1802	c.1779G>C	c.(1777-1779)ttG>ttC	p.L593F	KIAA0907_ENST00000368320.3_3'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	593										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ATTGGTATCCCAAACTCCAGC	0.463000													6	84					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366134	7366134	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:7366134C>T	ENST00000311403.4	-	4	2506	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	ZBTB4_ENST00000380599.4_Missense_Mutation_p.E723K	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TGCCTCCGCTCTGTGCGGGCA	0.706000													12	93					0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45695836	45695836	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:45695836G>T	ENST00000320560.8	+	2	312	c.110G>T	c.(109-111)gGa>gTa	p.G37V	ANO6_ENST00000426898.2_Intron|ANO6_ENST00000435642.1_Missense_Mutation_p.G37V|ANO6_ENST00000441606.2_Missense_Mutation_p.G19V|ANO6_ENST00000425752.2_Missense_Mutation_p.G37V|ANO6_ENST00000423947.3_Missense_Mutation_p.G58V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	37					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCCGATTTGGGATCACTGGAA	0.368000													9	81					0.0931896	0.0944508	1	1	0
HSPH1	10808	broad.mit.edu	37	13	31727028	31727028	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr13:31727028C>G	ENST00000320027.5	-	5	834	c.490G>C	c.(490-492)Ggc>Cgc	p.G164R	HSPH1_ENST00000380406.5_Missense_Mutation_p.G123R|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380405.4_Missense_Mutation_p.G164R|HSPH1_ENST00000445273.2_Missense_Mutation_p.G166R	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	164					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CAGTTTAGGCCAACAATCTGT	0.378000													14	148					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718705	142718705	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:142718705G>C	ENST00000381779.4	-	2	445	c.220C>G	c.(220-222)Ctg>Gtg	p.L74V	SLITRK4_ENST00000338017.4_Missense_Mutation_p.L74V|SLITRK4_ENST00000356928.1_Missense_Mutation_p.L74V	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	74						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGGATACAGAATATTTAAA	0.378000													7	49					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707548	96707548	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:96707548C>A	ENST00000542454.2	+	3	3890	c.802C>A	c.(802-804)Ctg>Atg	p.L268M	BDKRB2_ENST00000554311.1_Missense_Mutation_p.L295M|BDKRB2_ENST00000539359.1_Missense_Mutation_p.L268M|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Missense_Mutation_p.L295M			P30411	BKRB2_HUMAN	bradykinin receptor B2	295					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CCTGGATACGCTGCATCGCCT	0.572000													4	35					0.150653	0.151779	1	1	0
IARS2	55699	broad.mit.edu	37	1	220284192	220284192	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:220284192G>T	ENST00000366922.1	+	11	1507	c.1176G>T	c.(1174-1176)ccG>ccT	p.P392P	IARS2_ENST00000302637.5_Silent_p.P464P			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	464					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATAGCTATCCGTATGACTGGA	0.358000													8	41					3.09899e-07	3.7232e-07	1	1	0
SNX14	57231	broad.mit.edu	37	6	86243325	86243325	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:86243325C>T	ENST00000314673.3	-	18	1978	c.1802G>A	c.(1801-1803)aGa>aAa	p.R601K	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.R549K|SNX14_ENST00000346348.3_Missense_Mutation_p.R548K|SNX14_ENST00000369627.2_Missense_Mutation_p.R592K|SNX14_ENST00000513865.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	601	PX.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACCTGCTCTTCTATCATTTCT	0.363000													4	34					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100871593	100871593	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:100871593G>T	ENST00000358544.2	+	57	11115	c.11004G>T	c.(11002-11004)ggG>ggT	p.G3668G	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.G3643G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3668					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAAGCATCGGGAACGGGGTCG	0.587000													7	73					2.0095e-06	2.34325e-06	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857910	9857910	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:9857910G>T	ENST00000396573.2	-	14	3800	c.3491C>A	c.(3490-3492)aCg>aAg	p.T1164K	GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1164K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1164K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1164K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T1007K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1164K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1164					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	p.T1164M(1)		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)	CATTGGCAGCGTGGAGTCCCC	0.527000													34	152					2.51541e-25	3.6149e-25	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107621257	107621257	+	Splice_Site	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:107621257C>G	ENST00000393561.1	-	6	933		c.e6-1		LAMB1_ENST00000393560.1_Splice_Site|LAMB1_ENST00000222399.6_Splice_Site			P07942	LAMB1_HUMAN	laminin, beta 1						axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTAATAAATCTAGGAAGGTC	0.333000													5	30					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52366331	52366331	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:52366331C>A	ENST00000356297.4	-	10	1097	c.997G>T	c.(997-999)Gta>Tta	p.V333L	PXDNL_ENST00000543296.1_Missense_Mutation_p.V333L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	333	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGCTGGATTACAAAGCTTGGT	0.438000													5	57					0.184627	0.185177	1	1	0
XYLT2	64132	broad.mit.edu	37	17	48433493	48433493	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:48433493C>A	ENST00000017003.2	+	7	1402	c.1353C>A	c.(1351-1353)ctC>ctA	p.L451L	XYLT2_ENST00000507602.1_Silent_p.L451L	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	451					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GTGAGACCCTCGTGGACAACA	0.607000													9	80					0.000274275	0.000299129	1	1	0
NPHP1	4867	broad.mit.edu	37	2	110962518	110962518	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:110962518G>C	ENST00000316534.4	-	1	101	c.28C>G	c.(28-30)Ctc>Gtc	p.L10V	NPHP1_ENST00000418527.1_Missense_Mutation_p.L10V|NPHP1_ENST00000355301.4_Missense_Mutation_p.L10V|NPHP1_ENST00000393272.3_Missense_Mutation_p.L10V|NPHP1_ENST00000417665.1_Missense_Mutation_p.L10V|NPHP1_ENST00000445609.2_Missense_Mutation_p.L10V			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	10					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AGGGCCTGGAGAGGATCTCGC	0.672000													9	65					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17056455	17056455	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:17056455G>C	ENST00000443236.1	-	22	2869	c.2838C>G	c.(2836-2838)tgC>tgG	p.C946W		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	899						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.C946C(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCCCATCCCGGCAGCAATTTG	0.567000													13	120					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510264	4510264	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:4510264G>A	ENST00000307632.3	+	1	156	c.134G>A	c.(133-135)tGt>tAt	p.C45Y		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTAGGCAACTGTACCCTTCTC	0.488000													27	149					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238274526	238274526	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:238274526C>G	ENST00000295550.4	-	12	6105	c.5653G>C	c.(5653-5655)Gtg>Ctg	p.V1885L	COL6A3_ENST00000472056.1_Missense_Mutation_p.V1278L|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1685L|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1679L|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1684L|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1679L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1885	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.V1885M(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GACACACGCACGGTGGGCGAG	0.612000													24	131					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20568950	20568950	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:20568950G>T	ENST00000504154.1	+	27	3043	c.2791G>T	c.(2791-2793)Ggc>Tgc	p.G931C	SLIT2_ENST00000503837.1_Missense_Mutation_p.G927C|SLIT2_ENST00000503823.1_Missense_Mutation_p.G923C|SLIT2_ENST00000273739.5_Missense_Mutation_p.G935C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	931	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TAAAAATGATGGCACATGTAA	0.378000													22	96					5.35356e-11	7.03372e-11	1	1	0
SEMA3C	10512	broad.mit.edu	37	7	80447662	80447662	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:80447662C>T	ENST00000265361.3	-	5	961	c.400G>A	c.(400-402)Gct>Act	p.A134T	SEMA3C_ENST00000419255.2_Missense_Mutation_p.A134T|SEMA3C_ENST00000544525.1_Missense_Mutation_p.A152T|SEMA3C_ENST00000536800.1_Intron	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	134	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGACTGAAAGCGCCACTCCCA	0.388000													9	54					0	0	1	0	0
TPRG1L	127262	broad.mit.edu	37	1	3544135	3544135	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:3544135C>T	ENST00000378344.2	+	4	613	c.542C>T	c.(541-543)cCc>cTc	p.P181L	TPRG1L_ENST00000344579.5_Missense_Mutation_p.P122L	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	181						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)		AGATGGAATCCCTGGTCTACC	0.483000													28	94					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616117	92616117	+	Silent	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:92616117C>A	ENST00000298047.6	+	23	12512	c.12495C>A	c.(12493-12495)atC>atA	p.I4165I	FAT3_ENST00000525166.1_Silent_p.I4015I|FAT3_ENST00000533797.1_Silent_p.I500I|FAT3_ENST00000409404.2_Silent_p.I4165I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4165					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTTCGTCATCTTCATCCTGG	0.602000										TCGA Ovarian(4;0.039)			9	27					3.09899e-07	3.7232e-07	1	1	0
STXBP4	252983	broad.mit.edu	37	17	53068288	53068288	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:53068288G>T	ENST00000376352.2	+	4	357	c.150G>T	c.(148-150)caG>caT	p.Q50H	STXBP4_ENST00000299341.4_5'UTR|STXBP4_ENST00000434978.2_Missense_Mutation_p.Q50H|STXBP4_ENST00000405898.1_Missense_Mutation_p.Q50H|STXBP4_ENST00000398391.2_Intron	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	50	PDZ.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TATATATTCAGGAAATTATTC	0.398000													9	150					0.0692343	0.0704893	1	1	0
KCTD19	146212	broad.mit.edu	37	16	67331511	67331511	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:67331511C>T	ENST00000304372.5	-	7	1097	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	348						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCACAGAGCTCATATACCTCG	0.517000													9	65					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80773163	80773163	+	Silent	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:80773163A>G	ENST00000466387.1	+	15	2239	c.1515A>G	c.(1513-1515)tcA>tcG	p.S505S	CTNNA2_ENST00000361291.4_Silent_p.S539S|CTNNA2_ENST00000343114.3_Silent_p.S184S|CTNNA2_ENST00000496558.1_Silent_p.S505S|CTNNA2_ENST00000540488.1_Silent_p.S505S|CTNNA2_ENST00000541047.1_Silent_p.S505S|CTNNA2_ENST00000402739.4_Silent_p.S505S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	505					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACATCACCTCAGTGGATGACT	0.507000													6	35					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57102112	57102112	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:57102112C>A	ENST00000278412.2	-	3	331	c.65G>T	c.(64-66)cGa>cTa	p.R22L		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	22					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CAACCTCAGTCGACCATCATT	0.507000													27	141					7.92952e-12	1.06042e-11	1	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120312504	120312504	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:120312504C>A	ENST00000397843.2	+	14	1347	c.1181C>A	c.(1180-1182)tCa>tAa	p.S394*	ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.S375*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.S291*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	394	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CATGTAGTTTCACAATTTGAC	0.388000			T	MLL	AML								16	80					1.33834e-09	1.72145e-09	1	1	0
ZNF582	147948	broad.mit.edu	37	19	56895447	56895447	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:56895447C>G	ENST00000301310.4	-	5	1497	c.1339G>C	c.(1339-1341)Gag>Cag	p.E447Q	ZNF582_ENST00000586929.1_Missense_Mutation_p.E447Q	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GGCTTTTTCTCAGTGTGAATA	0.368000													8	69					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149558528	149558528	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:149558528C>T	ENST00000223210.4	+	7	2524	c.2279C>T	c.(2278-2280)tCa>tTa	p.S760L		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TATCAGTCCTCAAACAAGAGG	0.607000													23	69					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27461929	27461929	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:27461929G>A	ENST00000264705.4	+	32	5244	c.5082G>A	c.(5080-5082)gaG>gaA	p.E1694E	CAD_ENST00000403525.1_Silent_p.E1631E	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1694	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCTTGGAGGAGAAGTGTGGGT	0.597000													18	110					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196851788	196851788	+	Splice_Site	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:196851788A>T	ENST00000312428.6	-	14	1855		c.e14+1			NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCACATAAATACCTTGTATTT	0.343000													12	46					0	0	1	0	0
TMEM259	91304	broad.mit.edu	37	19	1011101	1011101	+	Silent	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:1011101G>A	ENST00000356663.3	-	10	1432	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	TMEM259_ENST00000333175.5_Intron	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		TCACCTGGATGAAGAGCCAGG	0.637000													5	10					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:7578235T>C	ENST00000420246.2	-	6	746	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000269305.4_Missense_Mutation_p.Y205C|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCATCCAAATACTCCACACG	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	40					0	0	1	0	0
LYZL2	119180	broad.mit.edu	37	10	30915076	30915076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:30915076C>A	ENST00000375318.2	-	3	450	c.394G>T	c.(394-396)Gga>Tga	p.G132*		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	86					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TTCAGCTTTCCGCGTCTGCAC	0.567000													19	112					2.94398e-08	3.64751e-08	1	1	0
UBOX5	22888	broad.mit.edu	37	20	3102242	3102242	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr20:3102242G>A	ENST00000217173.2	-	3	1514	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M	UBOX5_ENST00000348031.2_Missense_Mutation_p.T348M|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	348						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TGCCAATGCCGTCTGTGCTCT	0.552000													3	17					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22945111	22945111	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:22945111G>T	ENST00000313077.7	+	12	1307	c.1182G>T	c.(1180-1182)gcG>gcT	p.A394A	CYFIP1_ENST00000560848.1_Silent_p.A394A	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	394					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCGACCTGGCGCTGCAGGGCC	0.706000													5	11					0.0215528	0.0220768	1	1	0
PRKCG	5582	broad.mit.edu	37	19	54394987	54394987	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:54394987A>C	ENST00000263431.3	+	6	871	c.589A>C	c.(589-591)Aaa>Caa	p.K197Q	PRKCG_ENST00000540413.1_Missense_Mutation_p.K197Q|PRKCG_ENST00000542049.1_Missense_Mutation_p.K84Q|PRKCG_ENST00000536044.1_Missense_Mutation_p.K197Q	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	197	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TCCCTATGTGAAACTGAAGCT	0.522000													38	95					0	0	1	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873453	37873453	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:37873453G>T	ENST00000295324.3	-	2	1278	c.278C>A	c.(277-279)tCt>tAt	p.S93Y	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	93					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				TGTGAACACAGAGTCCGAGGT	0.547000													42	128					6.68952e-21	9.49208e-21	1	1	0
LGR6	59352	broad.mit.edu	37	1	202288096	202288096	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:202288096C>A	ENST00000367278.3	+	18	2754	c.2665C>A	c.(2665-2667)Cct>Act	p.P889T	LGR6_ENST00000439764.2_Missense_Mutation_p.P750T|LGR6_ENST00000255432.7_Missense_Mutation_p.P837T	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	889						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGGCGGCCCCCTGGGCTGGA	0.627000													9	88					3.07112e-06	3.55659e-06	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121682712	121682712	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:121682712A>G	ENST00000393386.2	+	22	6263	c.5852A>G	c.(5851-5853)cAg>cGg	p.Q1951R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Q1084R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1951	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGTATGTTGCAGCAGATTCAA	0.333000													17	38					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167642227	167642227	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:167642227G>A	ENST00000519204.1	+	20	3783	c.3665G>A	c.(3664-3666)cGc>cAc	p.R1222H	TENM2_ENST00000545108.1_Missense_Mutation_p.R1342H|TENM2_ENST00000518659.1_Missense_Mutation_p.R1343H|TENM2_ENST00000520394.1_Missense_Mutation_p.R1104H|TENM2_ENST00000403607.2_Missense_Mutation_p.R1167H					teneurin transmembrane protein 2																		GATGAAGCCCGCTGCGGGGAT	0.562000													11	103					0	0	1	0	0
ARL8B	55207	broad.mit.edu	37	3	5164178	5164178	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:5164178G>A	ENST00000256496.3	+	1	274	c.28G>A	c.(28-30)Gac>Aac	p.D10N	ARL8B_ENST00000419534.2_Missense_Mutation_p.D10N	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	10					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		CCGCCTGCTGGACTGGTTCCG	0.652000													9	37					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130219639	130219639	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:130219639G>T	ENST00000276211.5	+	8	1378	c.1033G>T	c.(1033-1035)Gag>Tag	p.E345*	ARHGAP36_ENST00000370921.1_Nonsense_Mutation_p.E209*|ARHGAP36_ENST00000370922.1_Nonsense_Mutation_p.E333*	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	345	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGATACCCTGGAGCGTCTGCT	0.493000													32	289					5.90632e-09	7.42698e-09	1	1	0
LASP1	3927	broad.mit.edu	37	17	37074911	37074911	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:37074911C>T	ENST00000318008.6	+	7	997	c.666C>T	c.(664-666)tcC>tcT	p.S222S	LASP1_ENST00000433206.2_Silent_p.S166S|LASP1_ENST00000435347.3_Silent_p.S222S	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	222	SH3.					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						ACGAGGTCTCCTTCCAGGACG	0.672000			T	MLL	AML								13	128					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92200336	92200336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:92200336C>A	ENST00000212355.4	-	5	1030	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E189*|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.E189*	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	189					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AATTTACCTTCCCCCACTTTA	0.373000													9	141					3.09899e-07	3.7232e-07	1	1	0
FMN2	56776	broad.mit.edu	37	1	240421289	240421289	+	Silent	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:240421289A>T	ENST00000319653.9	+	7	4340	c.4110A>T	c.(4108-4110)atA>atT	p.I1370I	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1370	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGTTGGAATACTAATGTCTA	0.323000													5	58					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196735714	196735714	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:196735714G>A	ENST00000296350.5	-	12	1761	c.1648C>T	c.(1648-1650)Cag>Tag	p.Q550*		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	550	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TACCGCTCCTGGCTGTTGCCC	0.672000													25	81					0	0	1	0	0
NR4A1	3164	broad.mit.edu	37	12	52435709	52435709	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:52435709G>C	ENST00000545748.1	+	2	1151	c.156G>C	c.(154-156)caG>caC	p.Q52H	NR4A1_ENST00000360284.3_Missense_Mutation_p.Q11H|NR4A1_ENST00000550082.1_Missense_Mutation_p.Q11H			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	0					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGTCCATCCAGAGTGGTAAGT	0.627000													3	11					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44099475	44099475	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:44099475C>G	ENST00000422989.1	-	2	171	c.16G>C	c.(16-18)Ggt>Cgt	p.G6R	IRGQ_ENST00000602269.1_Missense_Mutation_p.G6R	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	6							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GTCACGTCACCCTGCGGCGGA	0.657000													20	68					0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176829621	176829621	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:176829621A>T	ENST00000253496.3	-	13	1658	c.1610T>A	c.(1609-1611)gTg>gAg	p.V537E		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	537	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGATCCGTGCACGTCCGGGGC	0.672000									Hereditary Angioedema				5	46					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31501658	31501658	+	Silent	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:31501658C>T	ENST00000330498.3	+	14	1840	c.1821C>T	c.(1819-1821)ttC>ttT	p.F607F	C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000570164.1_3'UTR|C16orf58_ENST00000567994.1_3'UTR|SLC5A2_ENST00000564197.1_Intron	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	607					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CAAGCCTCTTCCGCCAGTGCC	0.657000													3	20					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324163	161324163	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:161324163C>G	ENST00000428797.2	+	11	1461	c.1106C>G	c.(1105-1107)gCt>gGt	p.A369G	GABRA1_ENST00000420560.1_Missense_Mutation_p.A369G|GABRA1_ENST00000393943.4_Missense_Mutation_p.A369G|GABRA1_ENST00000444819.1_Missense_Mutation_p.A369G|GABRA1_ENST00000023897.6_Missense_Mutation_p.A369G|GABRA1_ENST00000437025.2_Missense_Mutation_p.A369G	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	369					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AACACTTACGCTCCAACAGCA	0.433000													15	103					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761590	55761590	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:55761590G>C	ENST00000278409.1	-	1	511	c.512C>G	c.(511-513)tCc>tGc	p.S171C		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GATGACATTGGAGTCACAGAA	0.468000													15	58					0	0	1	0	0
RPS28	6234	broad.mit.edu	37	19	8386927	8386927	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:8386927G>C	ENST00000600659.2	+	3	209	c.178G>C	c.(178-180)Gag>Cag	p.E60Q		NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	60					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome										CACCCTTTTGGAGTCAGAGCG	0.602000													4	24					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424013	125424013	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:125424013A>T	ENST00000373686.1	+	1	169	c.169A>T	c.(169-171)Aca>Tca	p.T57S				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AAATAACCTAACAAGACCCTC	0.428000													22	39					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108642061	108642061	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:108642061G>T	ENST00000332082.4	+	10	2457	c.1639G>T	c.(1639-1641)Gat>Tat	p.D547Y	WSCD2_ENST00000261400.3_Missense_Mutation_p.D567Y|WSCD2_ENST00000547525.1_Missense_Mutation_p.D547Y|WSCD2_ENST00000549903.1_Missense_Mutation_p.D567Y			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	547						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAAGATGGTGGATGCAGCCCT	0.567000													6	57					5.9392e-07	7.09755e-07	1	1	0
ZDHHC4	55146	broad.mit.edu	37	7	6628287	6628287	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:6628287G>T	ENST00000396706.2	+	8	1224	c.781G>T	c.(781-783)Ggc>Tgc	p.G261C	ZDHHC4_ENST00000396713.2_Missense_Mutation_p.G261C|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.G261C|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.G261C|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.G261C|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.G261C			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	261						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CTTCATGCTGGGCTTTGTCGT	0.512000													20	223					4.35082e-09	5.50178e-09	1	1	0
KREMEN2	79412	broad.mit.edu	37	16	3016181	3016181	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr16:3016181G>C	ENST00000572045.1	+	3	615	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	KREMEN2_ENST00000319500.6_Missense_Mutation_p.E104Q|KREMEN2_ENST00000303746.5_Missense_Mutation_p.E104Q|KREMEN2_ENST00000575885.1_Missense_Mutation_p.E104Q|KREMEN2_ENST00000571007.1_Missense_Mutation_p.E104Q|KREMEN2_ENST00000575769.1_Missense_Mutation_p.E104Q	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	104	Kringle.				Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CTACGTGGCTGAGACAGAGGA	0.642000													15	92					0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23191892	23191892	+	RNA	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr15:23191892C>A	ENST00000400153.2	-	0	1804					NR_003521.1																						CTGTTGCAATCTGAGCCAATG	0.398000													6	45					0.248553	0.248922	1	1	0
UGT2B28	54490	broad.mit.edu	37	4	70146307	70146307	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:70146307C>G	ENST00000335568.5	+	1	91	c.89C>G	c.(88-90)aCc>aGc	p.T30S	UGT2B28_ENST00000511240.1_Missense_Mutation_p.T30S	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	30					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTGGTGTGGACCGGTGAATAC	0.468000													46	67					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113705003	113705003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:113705003G>A	ENST00000003302.4	-	6	657	c.589C>T	c.(589-591)Caa>Taa	p.Q197*	USP28_ENST00000537706.1_Nonsense_Mutation_p.Q197*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Nonsense_Mutation_p.Q197*|USP28_ENST00000545540.1_Nonsense_Mutation_p.Q72*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	197					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGTACATTTTGTGGCAGACTA	0.358000													8	22					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862525	25862525	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:25862525G>T	ENST00000397060.4	-	3	348	c.239C>A	c.(238-240)tCt>tAt	p.S80Y	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S80Y|SLC17A3_ENST00000360657.3_Missense_Mutation_p.S80Y	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	80					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CAGCACCTCAGAGGAATCATT	0.428000													10	58					7.48243e-07	8.84764e-07	1	1	0
F8	2157	broad.mit.edu	37	X	154158125	154158125	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:154158125T>C	ENST00000360256.4	-	14	4140	c.3940A>G	c.(3940-3942)Aca>Gca	p.T1314A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1314	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GATATCCTTGTGGTGCATGCA	0.393000													17	71					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152201857	152201857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:152201857C>A	ENST00000440973.1	+	5	1081	c.711C>A	c.(709-711)tgC>tgA	p.C237*	ESR1_ENST00000456483.2_Nonsense_Mutation_p.C237*|ESR1_ENST00000544394.1_Nonsense_Mutation_p.C64*|ESR1_ENST00000338799.5_Nonsense_Mutation_p.C237*|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Nonsense_Mutation_p.C237*|ESR1_ENST00000206249.3_Nonsense_Mutation_p.C237*	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	237	Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GGAAGAGCTGCCAGGCCTGCC	0.507000													17	35					4.7546e-09	6.00113e-09	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20523114	20523114	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:20523114A>G	ENST00000359062.3	+	1	936	c.896A>G	c.(895-897)gAg>gGg	p.E299G	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	299					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GTGTCCGCCGAGATGTCCGGC	0.597000													5	59					0	0	1	0	0
TRAV8-3	28683	broad.mit.edu	37	14	22321003	22321003	+	RNA	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:22321003G>A	ENST00000390435.1	+	0	161																											TATCTCTTCTGGTATGTCCAG	0.502000													3	23					0	0	1	0	0
IGHV3-16	28447	broad.mit.edu	37	14	106622077	106622077	+	RNA	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:106622077G>T	ENST00000390604.2	-	0	241																											GAGCCTTGCGGGCCCAGTTCA	0.577000													47	226					3.31993e-32	4.83289e-32	1	1	0
PIK3AP1	118788	broad.mit.edu	37	10	98416556	98416556	+	Splice_Site	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:98416556C>A	ENST00000339364.5	-	3	685	c.567_splice	c.e3+1	p.G189_splice	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Splice_Site_p.G11_splice	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	189	DBB.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGTGCCTACCCCACAGCGAAT	0.547000													20	182					1.9806e-07	2.41834e-07	1	1	0
XAB2	56949	broad.mit.edu	37	19	7684939	7684939	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:7684939C>G	ENST00000358368.4	-	17	2326	c.2289G>C	c.(2287-2289)caG>caC	p.Q763H	XAB2_ENST00000534844.1_Missense_Mutation_p.Q760H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	763					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCATGCCACTCTGCCCAGGGG	0.677000								Direct reversal of damage;Nucleotide excision repair (NER)					8	36					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48501964	48501964	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:48501964C>T	ENST00000412052.1	+	8	1694	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	ATRIP_ENST00000357105.6_Missense_Mutation_p.S377F|ATRIP_ENST00000346691.4_Missense_Mutation_p.S504F|ATRIP_ENST00000320211.3_Missense_Mutation_p.S504F	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	504					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGCAGATTCTGCTGCTGGG	0.557000								Other conserved DNA damage response genes					9	69					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68517774	68517774	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:68517774C>A	ENST00000443940.2	-	2	441	c.355G>T	c.(355-357)Gcc>Tcc	p.A119S	MTL5_ENST00000544963.1_Missense_Mutation_p.A119S|MTL5_ENST00000255087.5_Missense_Mutation_p.A119S			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	119					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			ACGTTGCAGGCGGGCGGCTGC	0.751000													9	26					1.76689e-08	2.20534e-08	1	1	0
NELFA	7469	broad.mit.edu	37	4	1985623	1985623	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:1985623C>G	ENST00000382882.3	-	9	2404	c.1287G>C	c.(1285-1287)caG>caC	p.Q429H	NELFA_ENST00000411638.1_Missense_Mutation_p.Q418H|NELFA_ENST00000542778.1_Missense_Mutation_p.Q283H	NM_005663.4	NP_005654.3			negative elongation factor complex member A																		GGGCCTGGGTCTGCGGGGCCA	0.677000													18	57					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548368	52548368	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr13:52548368C>G	ENST00000242839.4	-	2	1144	c.988G>C	c.(988-990)Gga>Cga	p.G330R	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.G330R|ATP7B_ENST00000400370.3_Missense_Mutation_p.G330R|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.G330R|ATP7B_ENST00000418097.2_Missense_Mutation_p.G330R|ATP7B_ENST00000542656.1_Missense_Mutation_p.G298R	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	330					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)		CCTTCGGCTCCATCAGGAAGA	0.537000									Wilson disease				13	93					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104031793	104031793	+	Splice_Site	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:104031793G>T	ENST00000388887.2	+	8	913		c.e8-1			NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2						angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCCTCTCAAGCCATCAATCC	0.478000													8	116					0.00307968	0.00322314	1	1	0
ASTN1	460	broad.mit.edu	37	1	177001653	177001653	+	Silent	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr1:177001653G>T	ENST00000367654.2	-	3	817	c.804C>A	c.(802-804)gtC>gtA	p.V268V	ASTN1_ENST00000367657.3_Silent_p.V268V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.V268V|ASTN1_ENST00000361833.2_Silent_p.V268V			O14525	ASTN1_HUMAN	astrotactin 1	268					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGGTGCGCGTGACCTGGCTGG	0.587000													12	106					2.27111e-07	2.74817e-07	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56363580	56363580	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:56363580C>G	ENST00000301295.6	+	2	556	c.134C>G	c.(133-135)aCt>aGt	p.T45S	NLRP4_ENST00000346986.5_Missense_Mutation_p.T45S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	45	DAPIN.						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)		ATTCCCTGGACTGAGGTCAAA	0.408000													8	60					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70343074	70343074	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:70343074G>A	ENST00000333646.6	+	11	1814	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	MED12_ENST00000374102.1_Missense_Mutation_p.E539K|MED12_ENST00000374080.3_Missense_Mutation_p.E539K	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	539					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GATTGAGGCTGAGGTTAGAGG	0.532000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	55					0	0	1	0	0
TMEM259	91304	broad.mit.edu	37	19	1011098	1011098	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:1011098G>C	ENST00000356663.3	-	10	1435	c.1314C>G	c.(1312-1314)atC>atG	p.I438M	TMEM259_ENST00000333175.5_Intron	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		GCCTCACCTGGATGAAGAGCC	0.632000													5	10					0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104592752	104592752	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:104592752G>C	ENST00000369887.3	-	5	1138	c.967C>G	c.(967-969)Cag>Gag	p.Q323E	CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	323					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	AAGCACACCTGAGGATTGTGC	0.557000													5	47					0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51378024	51378024	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:51378024G>C	ENST00000594218.1	-	1	16	c.17C>G	c.(16-18)tCa>tGa	p.S6*	KLK2_ENST00000391810.2_Intron|KLK2_ENST00000358049.4_Missense_Mutation_p.E32Q|KLK2_ENST00000325321.3_Missense_Mutation_p.E32Q|KLK2_ENST00000597509.1_3'UTR																							CTGGGAGTGTGAGAAGCATTC	0.622000													8	66					0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10823666	10823666	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:10823666G>T	ENST00000250237.5	+	9	1019	c.1009G>T	c.(1009-1011)Gac>Tac	p.D337Y		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	337					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GCTGCACAGTGACAACACGGC	0.687000													16	22					1.56452e-12	2.10898e-12	1	1	0
DNAJC13	23317	broad.mit.edu	37	3	132213090	132213090	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:132213090C>G	ENST00000260818.6	+	34	4176	c.3928C>G	c.(3928-3930)Caa>Gaa	p.Q1310E		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1310	J.						heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TAATCTGCCTCAAGGACAGGG	0.368000													6	56					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96795868	96795868	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:96795868delG	ENST00000342380.2	-	7	653	c.654delC	c.(652-654)ttfs	p.F218fs		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	218					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						GAGACTTGATGAAGTTGATTT	0.473													18	73	---	---	---	---					
SLC4A3	6508	broad.mit.edu	37	2	220498110	220498110	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr2:220498110delG	ENST00000358055.3	+	10	1904	c.1392delG	c.(1390-1392)gcfs	p.A464fs	SLC4A3_ENST00000373762.3_Frame_Shift_Del_p.A491fs|SLC4A3_ENST00000273063.6_Frame_Shift_Del_p.A491fs|SLC4A3_ENST00000373760.2_Frame_Shift_Del_p.A464fs|SLC4A3_ENST00000317151.3_Frame_Shift_Del_p.A464fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	464					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGATGGGGCGGTGCCTACCA	0.617													18	88	---	---	---	---					
AHSG	197	broad.mit.edu	37	3	186331091	186331091	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr3:186331091delG	ENST00000411641.2	+	1	380	c.161delG	c.(160-162)tgfs	p.W54fs	AHSG_ENST00000273784.5_Frame_Shift_Del_p.W54fs			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	54	Cystatin fetuin-A-type 1.			W -> K (in Ref. 8; AA sequence).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AACCTTCCTTGGGGATACAAA	0.463													12	42	---	---	---	---					
SLIT2	9353	broad.mit.edu	37	4	20568925	20568925	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr4:20568925delC	ENST00000504154.1	+	27	3018	c.2766delC	c.(2764-2766)tgfs	p.C922fs	SLIT2_ENST00000273739.5_Frame_Shift_Del_p.C926fs|SLIT2_ENST00000503823.1_Frame_Shift_Del_p.C914fs|SLIT2_ENST00000503837.1_Frame_Shift_Del_p.C918fs	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	922	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTAACCCCTGCCTATCAAATC	0.363													27	109	---	---	---	---					
HSPA4	3308	broad.mit.edu	37	5	132406171	132406182	+	In_Frame_Del	DEL	GTTGACTGTGTT	GTTGACTGTGTT	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr5:132406171_132406182delGTTGACTGTGTT	ENST00000304858.2	+	4	701_712	c.412_423delGTTGACTGTGTT	c.(412-423)del	p.VDCV138del		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	138					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAGCCTGTAGTTGACTGTGTTGTTTCGGTGA	0.396													7	58	---	---	---	---					
BAI3	577	broad.mit.edu	37	6	70034912	70034912	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr6:70034912delG	ENST00000370598.1	+	21	3784	c.2963delG	c.(2962-2964)tgfs	p.W988fs	BAI3_ENST00000238918.8_Frame_Shift_Del_p.W194fs	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	988					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGCCTTGGATGGGGTAAGCAT	0.403													10	119	---	---	---	---					
HOXA3	3200	broad.mit.edu	37	7	27148281	27148282	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:27148281_27148282delGC	ENST00000396352.4	-	3	783_784	c.584_585delGC	c.(583-585)cfs	p.R195fs	HOXA3_ENST00000317201.2_Frame_Shift_Del_p.R195fs|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	195					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGTAGGCCGTGCGCGCGCGCTT	0.683													31	96	---	---	---	---					
TNS3	64759	broad.mit.edu	37	7	47333403	47333404	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:47333403_47333404delCG	ENST00000398879.1	-	25	4065_4066	c.3699_3700delCG	c.(3697-3702)cttcfs	p.LV1233fs	TNS3_ENST00000355730.3_Frame_Shift_Del_p.LV993fs|TNS3_ENST00000311160.9_Frame_Shift_Del_p.LV1233fs			Q68CZ2	TENS3_HUMAN	tensin 3	1233	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AAGTGCCGGACGAGTTCATTGG	0.431													9	86	---	---	---	---					
PLXNA4	91584	broad.mit.edu	37	7	131829986	131829986	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr7:131829986delC	ENST00000359827.3	-	29	6079	c.5117delG	c.(5116-5118)gcfs	p.G1706fs	PLXNA4_ENST00000321063.4_Frame_Shift_Del_p.G1706fs			Q9HCM2	PLXA4_HUMAN	plexin A4	1706						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						CAGGGCAGAGCCACGGTGTGC	0.557													27	77	---	---	---	---					
NIPAL2	79815	broad.mit.edu	37	8	99306335	99306335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr8:99306335delC	ENST00000341166.3	-	1	286	c.31delG	c.(31-33)acfs	p.D11fs	NIPAL2_ENST00000430223.2_Frame_Shift_Del_p.D11fs	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	11						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						GAGGCGGAGTCCCCGGGGCCC	0.751													2	4	---	---	---	---					
NFIB	4781	broad.mit.edu	37	9	14179763	14179765	+	Translation_Start_Site	DEL	TCC	TCC	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr9:14179763_14179765delTCC	ENST00000543693.1	-	0	154_156				NFIB_ENST00000380959.3_In_Frame_Del_p.G193del|NFIB_ENST00000397575.3_In_Frame_Del_p.G193del|NFIB_ENST00000397581.2_In_Frame_Del_p.G193del|NFIB_ENST00000380953.1_In_Frame_Del_p.G193del|NFIB_ENST00000397579.2_In_Frame_Del_p.G193del|NFIB_ENST00000380924.1_De_novo_Start_OutOfFrame|NFIB_ENST00000380934.4_In_Frame_Del_p.G219del			O00712	NFIB_HUMAN	nuclear factor I/B						anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GGCTTGGACTTCCTGATTGTCCA	0.355			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								17	34	---	---	---	---					
CHAT	1103	broad.mit.edu	37	10	50835698	50835698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr10:50835698delG	ENST00000395562.2	+	8	1201	c.732delG	c.(730-732)gafs	p.E244fs	CHAT_ENST00000337653.2_Frame_Shift_Del_p.E326fs|CHAT_ENST00000351556.3_Frame_Shift_Del_p.E208fs|CHAT_ENST00000395559.2_Frame_Shift_Del_p.E208fs|CHAT_ENST00000339797.1_Frame_Shift_Del_p.E208fs|CHAT_ENST00000455728.2_Frame_Shift_Del_p.E208fs	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	326					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GTCTCAGTGAGGGGGATCTGT	0.527													24	273	---	---	---	---					
NUP160	23279	broad.mit.edu	37	11	47861587	47861588	+	Frame_Shift_Ins	INS	-	-	TGAC	rs117931945	by1000genomes	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:47861587_47861588insTGAC	ENST00000378460.2	-	4	601_602	c.555_556insGTCA	c.(553-558)tctattfs	p.I186fs	NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000528071.1_Frame_Shift_Ins_p.I72fs|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000530326.1_Frame_Shift_Ins_p.I72fs	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	186					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCAGTGAATATTGACTGCATCT	0.366													16	57	---	---	---	---					
ATG2A	23130	broad.mit.edu	37	11	64664242	64664242	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr11:64664242delG	ENST00000421419.2	-	38	5370	c.5256delC	c.(5254-5256)ccfs	p.P1752fs	ATG2A_ENST00000377264.3_Frame_Shift_Del_p.P1750fs			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1750							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCGAGTGCATGGGGCCCACGC	0.597											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	129	---	---	---	---					
GAS2L3	283431	broad.mit.edu	37	12	101017660	101017660	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:101017660delG	ENST00000537247.1	+	10	1719	c.765delG	c.(763-765)ctfs	p.L255fs	GAS2L3_ENST00000547754.1_Frame_Shift_Del_p.L359fs|GAS2L3_ENST00000266754.5_Frame_Shift_Del_p.L359fs|GAS2L3_ENST00000539410.1_Frame_Shift_Del_p.L359fs			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	359	GAR.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CATCTTCACTGAAAGGAGGTA	0.443													9	92	---	---	---	---					
FICD	11153	broad.mit.edu	37	12	108912499	108912499	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr12:108912499delC	ENST00000552695.1	+	3	859	c.624delC	c.(622-624)atfs	p.I208fs	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	208					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						TCATGTCCATCCCCAAGGGGA	0.552													9	39	---	---	---	---					
SERPINA11	256394	broad.mit.edu	37	14	94914807	94914807	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:94914807delC	ENST00000334708.3	-	2	369	c.305delG	c.(304-306)gcfs	p.G102fs	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	102					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAATCCCAGGCCCTCCAGGAT	0.612													37	98	---	---	---	---					
TECPR2	9895	broad.mit.edu	37	14	102900698	102900702	+	Frame_Shift_Del	DEL	GCGTG	GCGTG	-	rs141697267	byFrequency	TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr14:102900698_102900702delGCGTG	ENST00000359520.7	+	9	1770_1774	c.1544_1548delGCGTG	c.(1543-1548)afs	p.SV515fs	TECPR2_ENST00000558678.1_Frame_Shift_Del_p.SV515fs	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	515							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CTGGGCAGTAGCGTGGATCAGTTAA	0.527													17	65	---	---	---	---					
CCDC144NL-AS1	440416	broad.mit.edu	37	17	20899787	20899787	+	RNA	DEL	C	C	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr17:20899787delC	ENST00000581958.1	+	0	794				RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000423473.2_RNA																							CTGATACCCGCCCTGTCCCTA	0.607													2	4	---	---	---	---					
PSG9	5678	broad.mit.edu	37	19	43766108	43766111	+	Frame_Shift_Del	DEL	ATAG	ATAG	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chr19:43766108_43766111delATAG	ENST00000244293.7	-	3	676_679	c.610_613delCTAT	c.(610-615)ttfs	p.LF204fs	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000270077.3_Frame_Shift_Del_p.LF204fs|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Frame_Shift_Del_p.LF204fs			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	204	Ig-like C2-type 1.				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)				GTGACACCAAATAGATAGAGGGTC	0.510													7	390	---	---	---	---					
STS	412	broad.mit.edu	37	X	7252129	7252130	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:7252129_7252130delGC	ENST00000217961.4	+	9	1579_1580	c.1359_1360delGC	c.(1357-1362)gtgcfs	p.VR453fs		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	453					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TAAATGCTGTGCGCTGGCACCC	0.475									Ichthyosis				35	114	---	---	---	---					
KLHL34	257240	broad.mit.edu	37	X	21675066	21675066	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:21675066delG	ENST00000379499.2	-	1	1382	c.841delC	c.(841-843)gcfs	p.R281fs		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	281										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						AACAAGATGCGGGTCTGGGGG	0.706													13	47	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47028813	47028813	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:47028813delG	ENST00000377604.3	+	3	859	c.117delG	c.(115-117)atfs	p.M39fs	RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Frame_Shift_Del_p.M39fs|RBM10_ENST00000345781.6_Frame_Shift_Del_p.M39fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	39					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACCGGGACATGGACTACCGTT	0.622													14	42	---	---	---	---					
COL4A5	1287	broad.mit.edu	37	X	107869484	107869484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:107869484delG	ENST00000328300.6	+	36	3395	c.3151delG	c.(3151-3153)gafs	p.G1051fs	COL4A5_ENST00000361603.2_Frame_Shift_Del_p.G1051fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1051	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						TGGAGTTCCTGGACAACCTGG	0.453									Alport syndrome with Diffuse Leiomyomatosis				24	72	---	---	---	---					
MCF2	4168	broad.mit.edu	37	X	138708373	138708387	+	In_Frame_Del	DEL	CTTCCATAGTTGCAG	CTTCCATAGTTGCAG	-			TCGA-55-8205-01A-11D-2238-08	TCGA-55-8205-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	300ba4fc-8004-48ad-9657-76187e44c303	562191f7-038d-40fe-98e5-fdb02976e644	g.chrX:138708373_138708387delCTTCCATAGTTGCAG	ENST00000520602.1	-	9	1117_1131	c.832_846delCTGCAACTATGGAAG	c.(832-846)del	p.LQLWK278del	MCF2_ENST00000536274.1_In_Frame_Del_p.LQLWK179del|MCF2_ENST00000370578.4_In_Frame_Del_p.LQLWK363del|MCF2_ENST00000370573.4_In_Frame_Del_p.LQLWK218del|MCF2_ENST00000338585.6_In_Frame_Del_p.LQLWK218del|MCF2_ENST00000414978.1_In_Frame_Del_p.LQLWK278del|MCF2_ENST00000370576.4_In_Frame_Del_p.LQLWK218del|MCF2_ENST00000519895.1_In_Frame_Del_p.LQLWK278del			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	218					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCTGCTCAAACTTCCATAGTTGCAGATACTGCTCC	0.344													8	56	---	---	---	---					
