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
OR2T33	391195	broad.mit.edu	37	1	248436634	248436634	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:248436634G>T	ENST00000318021.2	-	1	504	c.483C>A	c.(481-483)acC>acA	p.T161T		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAAGCTCAGGGTAACAACAG	0.562000													25	50					9.04412e-07	1.19702e-06	0.309145	1	0
CDH7	1005	broad.mit.edu	37	18	63511294	63511294	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr18:63511294C>T	ENST00000536984.2	+	7	1922	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	CDH7_ENST00000397968.2_Missense_Mutation_p.P410S|CDH7_ENST00000323011.3_Missense_Mutation_p.P410S			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	410	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTCCAATAGCCCTGTGAGGTA	0.423000													6	61					0	0	0.248553	0	0
ZNF827	152485	broad.mit.edu	37	4	146807039	146807039	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:146807039C>A	ENST00000508784.1	-	4	1765	c.1538G>T	c.(1537-1539)gGa>gTa	p.G513V	ZNF827_ENST00000513320.1_Missense_Mutation_p.G163V|ZNF827_ENST00000379448.4_Missense_Mutation_p.G513V			Q17R98	ZN827_HUMAN	zinc finger protein 827	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GCCAGCCCCTCCCTGGCTAGT	0.597000													10	46					9.70103e-10	1.46056e-09	0.069234	1	0
EPHA6	285220	broad.mit.edu	37	3	96706829	96706829	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:96706829C>A	ENST00000389672.5	+	3	1144	c.1106C>A	c.(1105-1107)tCt>tAt	p.S369Y	EPHA6_ENST00000542517.1_Missense_Mutation_p.S275Y|EPHA6_ENST00000470610.2_Missense_Mutation_p.S369Y	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	274	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			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						ATTGAGGGTTCTTGCCATGGT	0.328000													11	46					6.40141e-05	7.71599e-05	0.080935	1	0
GPR39	2863	broad.mit.edu	37	2	133175302	133175302	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:133175302G>T	ENST00000329321.3	+	1	1156	c.687G>T	c.(685-687)gtG>gtT	p.V229V		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	229						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCGCCTTCGTGGTCTACCTCG	0.622000													11	42					6.40141e-05	7.71599e-05	0.080935	1	0
SLC12A2	6558	broad.mit.edu	37	5	127466874	127466874	+	Silent	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:127466874A>T	ENST00000262461.2	+	5	1353	c.1164A>T	c.(1162-1164)gcA>gcT	p.A388A	SLC12A2_ENST00000343225.4_Silent_p.A388A	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	388					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTGGATTTGCAGAAACCGTGG	0.423000													18	70					0	0	0.189662	0	0
FAM83G	644815	broad.mit.edu	37	17	18882149	18882149	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:18882149G>A	ENST00000388995.6	-	5	1053	c.830C>T	c.(829-831)gCc>gTc	p.A277V	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A277V|FAM83G_ENST00000345041.4_Missense_Mutation_p.A277V			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	277										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CGTCCGCGCGGCCGACCACGT	0.642000													3	53					0	0	0.115264	0	0
ATP7B	540	broad.mit.edu	37	13	52534376	52534376	+	Missense_Mutation	SNP	C	C	T	rs2277447		TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:52534376C>T	ENST00000242839.4	-	7	2185	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	ATP7B_ENST00000448424.2_Missense_Mutation_p.E677K|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.E677K|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.E566K|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	677					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)		TGGTGGGGCTCGTTGCTGGGT	0.468000									Wilson disease				11	31					0	0	0.080935	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221019	140221019	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:140221019A>T	ENST00000531613.1	+	1	113	c.113A>T	c.(112-114)gAg>gTg	p.E38V	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E38V|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_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)			GTCCCCGAGGAGGCCAAACAC	0.672000													29	44					0	0	0.134883	0	0
DMD	1756	broad.mit.edu	37	X	32663190	32663190	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:32663190G>T	ENST00000357033.4	-	10	1246	c.1040C>A	c.(1039-1041)gCt>gAt	p.A347D	DMD_ENST00000378677.2_Missense_Mutation_p.A343D|DMD_ENST00000288447.4_Missense_Mutation_p.A339D	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	347					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)				TTCTTCTAAAGCTGTTTGATA	0.403000													30	42					2.46105e-21	4.46962e-21	0.153744	1	0
VIT	5212	broad.mit.edu	37	2	37028518	37028518	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:37028518T>A	ENST00000379242.3	+	13	1435	c.1133T>A	c.(1132-1134)aTt>aAt	p.I378N	VIT_ENST00000404084.1_Missense_Mutation_p.I315N|VIT_ENST00000497382.1_Missense_Mutation_p.I32N|VIT_ENST00000389975.3_Missense_Mutation_p.I363N|VIT_ENST00000379241.3_Missense_Mutation_p.I341N|VIT_ENST00000401530.1_Missense_Mutation_p.I342N	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	363	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ATAGAGAAAATTACTCAGAGA	0.398000													17	124					0	0	0.146539	0	0
OR8J3	81168	broad.mit.edu	37	11	55904780	55904780	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:55904780G>T	ENST00000301529.1	-	1	414	c.415C>A	c.(415-417)Cgg>Agg	p.R139R		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGGCAGAGCCGCCGAGACACC	0.478000													38	45					3.54561e-26	6.60216e-26	0.279185	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144859792	144859792	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:144859792T>C	ENST00000369359.4	-	41	6738	c.6700A>G	c.(6700-6702)Act>Gct	p.T2234A	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T2183A|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T2098A|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.T2098A|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T1992A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2098					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCAGGGTCAGTGCTGGCTGGG	0.572000			T	PDGFRB	MPD								5	113					0	0	0.278610	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38345529	38345529	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:38345529A>G	ENST00000436615.3	+	6	888	c.398A>G	c.(397-399)cAg>cGg	p.Q133R	RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.Q182R|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.Q188R|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.Q133R	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	339					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCATCTGTGCAGGACATTCTG	0.532000													8	196					0	0	0.278610	0	0
HHEX	3087	broad.mit.edu	37	10	94452278	94452278	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:94452278A>T	ENST00000282728.5	+	2	2314	c.515A>T	c.(514-516)aAg>aTg	p.K172M	HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	172					anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						CGTCTGGCCAAGATGCTGCAG	0.647000													6	23					0	0	0.278610	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307607	140307607	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:140307607G>T	ENST00000253807.2	+	1	1130	c.1130G>T	c.(1129-1131)tGt>tTt	p.C377F	PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.C377F|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGTCATTTGTGGCATGTCT	0.517000													4	28					0.184627	0.188348	0.184627	1	0
LRP1	4035	broad.mit.edu	37	12	57556762	57556762	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:57556762C>T	ENST00000243077.3	+	15	2992	c.2526C>T	c.(2524-2526)tgC>tgT	p.C842C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	842	EGF-like 4.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGTCACTTGCTTGGGTATGA	0.642000													4	20					0	0	0.184627	0	0
TMC2	117532	broad.mit.edu	37	20	2575512	2575512	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:2575512C>A	ENST00000358864.1	+	9	990	c.975C>A	c.(973-975)aaC>aaA	p.N325K		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	325						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCTACTACAACAACCAGAGGA	0.522000													16	90					1.99824e-07	2.72029e-07	0.160694	1	0
ECE2	9718	broad.mit.edu	37	3	184009935	184009935	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:184009935G>T	ENST00000402825.3	+	19	2561	c.2561G>T	c.(2560-2562)gGc>gTc	p.G854V	ECE2_ENST00000357474.5_Missense_Mutation_p.G782V|ECE2_ENST00000404464.3_Missense_Mutation_p.G736V|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.G707V	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	854	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCGTGCTGGGCACTCTCTCC	0.672000													6	61					5.18039e-06	6.62894e-06	0.278610	1	0
MUC6	4588	broad.mit.edu	37	11	1024936	1024936	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:1024936C>G	ENST00000421673.2	-	24	3183	c.3133G>C	c.(3133-3135)Gac>Cac	p.D1045H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1045	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCAGGGGTCTGTCACGAAG	0.637000													3	25					0	0	0.115264	0	0
NXPE1	120400	broad.mit.edu	37	11	114392937	114392937	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:114392937A>G	ENST00000536271.1	-	4	1788	c.545T>C	c.(544-546)cTa>cCa	p.L182P	NXPE1_ENST00000424269.1_Missense_Mutation_p.L466P|NXPE1_ENST00000251921.2_Missense_Mutation_p.L324P					neurexophilin and PC-esterase domain family, member 1									p.L324P(1)									TGGGCTTCTTAGGAACAGTCT	0.428000													38	46					0	0	0.225048	0	0
OR2C1	4993	broad.mit.edu	37	16	3406478	3406478	+	Nonsense_Mutation	SNP	G	G	T	rs113396384	byFrequency	TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:3406478G>T	ENST00000304936.2	+	1	590	c.538G>T	c.(538-540)Gag>Tag	p.E180*		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATTCCTCTGCGAGGTGCCTGC	0.567000													13	80					9.31168e-06	1.17484e-05	0.105934	1	0
GPR158	57512	broad.mit.edu	37	10	25887454	25887454	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:25887454C>A	ENST00000376351.3	+	11	3258	c.2899C>A	c.(2899-2901)Cca>Aca	p.P967T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	967						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGCGGAGGAGCCAAGAAAGCC	0.458000													17	72					1.15919e-05	1.45572e-05	0.204396	1	0
ADH7	131	broad.mit.edu	37	4	100349720	100349720	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:100349720G>T	ENST00000437033.2	-	3	691	c.188C>A	c.(187-189)cCa>cAa	p.P63Q	ADH7_ENST00000476959.1_Missense_Mutation_p.P83Q|ADH7_ENST00000209665.4_Missense_Mutation_p.P75Q|ADH7_ENST00000482593.1_Missense_Mutation_p.P6Q			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	75					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CACAATCACTGGAAACTTGGA	0.438000													25	96					5.45024e-15	9.23576e-15	0.279207	1	0
REG4	83998	broad.mit.edu	37	1	120351347	120351347	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:120351347C>A	ENST00000369401.4	-	2	311	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S	REG4_ENST00000256585.5_Missense_Mutation_p.A16S|REG4_ENST00000354219.1_Missense_Mutation_p.A16S|REG4_ENST00000530654.1_Missense_Mutation_p.A16S	NM_001159353.1	NP_001152825.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	16						extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		CCTGTTTTGGCCAGGCAGCTC	0.542000											OREG0013729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	11					2.56e-06	3.33913e-06	0.150653	1	0
GRHL2	79977	broad.mit.edu	37	8	102555568	102555568	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:102555568G>T	ENST00000251808.3	+	2	458	c.120G>T	c.(118-120)ttG>ttT	p.L40F	GRHL2_ENST00000395927.1_Missense_Mutation_p.L24F	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	40	Transcription activation.					cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGTCATACTTGGAGAATCCCC	0.517000													13	105					0.000151284	0.000178891	0.105934	1	0
CACNA1E	777	broad.mit.edu	37	1	181702831	181702831	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:181702831C>A	ENST00000526775.1	+	20	3315	c.3150C>A	c.(3148-3150)agC>agA	p.S1050R	CACNA1E_ENST00000367570.1_Missense_Mutation_p.S1069R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S1069R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S1050R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S1001R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S676R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S1020R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1069					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						AGAGCACCAGCGTCACCGTCG	0.637000													5	22					0.00116845	0.00131268	0.217242	1	0
SPTA1	6708	broad.mit.edu	37	1	158655041	158655041	+	Missense_Mutation	SNP	G	G	C	rs121918640	by1000genomes	TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:158655041G>C	ENST00000368148.3	-	2	301	c.121C>G	c.(121-123)Cgg>Ggg	p.R41G	SPTA1_ENST00000368147.3_Missense_Mutation_p.R41G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	41			R -> W (in EL2; Tunis).		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)					TCAGCGACCCGCTCCTTGAAA	0.498000													32	68					0	0	0.153744	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110455957	110455957	+	Silent	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:110455957A>G	ENST00000378402.5	+	37	4721	c.4617A>G	c.(4615-4617)acA>acG	p.T1539T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1539			T -> R (in dbSNP:rs7820062).		immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCCTAGCAACAGAACCCCTGT	0.408000										HNSCC(38;0.096)			13	19					0	0	0.093190	0	0
HERC3	8916	broad.mit.edu	37	4	89608371	89608371	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:89608371T>A	ENST00000402738.1	+	23	2817	c.2578T>A	c.(2578-2580)Tgc>Agc	p.C860S	HERC3_ENST00000543130.1_Missense_Mutation_p.C304S|HERC3_ENST00000264345.3_Missense_Mutation_p.C860S	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	860					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AATATAGATCTGCCGAGAAAG	0.383000													6	41					0	0	0.248553	0	0
SI	6476	broad.mit.edu	37	3	164714404	164714404	+	Silent	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:164714404T>C	ENST00000264382.3	-	40	4673	c.4611A>G	c.(4609-4611)tcA>tcG	p.S1537S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1537	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)	GATGATATTCTGAGTTGTTGA	0.299000										HNSCC(35;0.089)			7	71					0	0	0.307466	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209440	140209440	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:140209440C>A	ENST00000529310.1	+	1	1878	c.1764C>A	c.(1762-1764)ggC>ggA	p.G588G	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGTGCAGGCCAAGTGGTGG	0.677000													17	42					3.41278e-10	5.22562e-10	0.160694	1	0
KRTAP5-10	387273	broad.mit.edu	37	11	71277090	71277090	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:71277090G>A	ENST00000398531.1	+	1	482	c.457G>A	c.(457-459)Ggc>Agc	p.G153S	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.G105S	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	153	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						ctgctcctcaggctgtggatc	0.627000													7	139					0	0	0.307466	0	0
MARCH10	162333	broad.mit.edu	37	17	60813518	60813518	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:60813518A>G	ENST00000544856.2	-	7	2086	c.1708T>C	c.(1708-1710)Tcc>Ccc	p.S570P	RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.S571P|MARCH10_ENST00000583600.1_Missense_Mutation_p.S609P|MARCH10_ENST00000456609.2_Missense_Mutation_p.S571P|RP11-156L14.1_ENST00000579201.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	571							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCCACTAAGGACAAATTGCCC	0.438000													4	83					0	0	0.150653	0	0
TROAP	10024	broad.mit.edu	37	12	49722798	49722798	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:49722798G>T	ENST00000551245.1	+	9	1091	c.980G>T	c.(979-981)gGa>gTa	p.G327V	TROAP_ENST00000257909.3_Missense_Mutation_p.G327V|TROAP_ENST00000547923.1_Missense_Mutation_p.G35V			Q12815	TROAP_HUMAN	trophinin associated protein	327					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCACCCTTTGGACGGGCTCAG	0.627000													10	60					0.000442599	0.00051142	0.335167	1	0
MYH13	8735	broad.mit.edu	37	17	10222287	10222287	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:10222287G>T	ENST00000418404.3	-	26	3721	c.3558C>A	c.(3556-3558)acC>acA	p.T1186T	MYH13_ENST00000570743.1_Silent_p.T1186T|MYH13_ENST00000252172.4_Silent_p.T1186T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1186					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGTGCTGCAGGGTGGCCTCCT	0.587000													11	98					7.03913e-09	1.02181e-08	0.093190	1	0
COL7A1	1294	broad.mit.edu	37	3	48621050	48621050	+	Splice_Site	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:48621050T>A	ENST00000328333.8	-	40	4449		c.e40-2		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGAGTCACCCTGAAGGAGAAA	0.622000													4	34					0	0	0.150653	0	0
LLGL1	3996	broad.mit.edu	37	17	18141833	18141833	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:18141833G>T	ENST00000316843.4	+	16	2212	c.2116G>T	c.(2116-2118)Gtg>Ttg	p.V706L		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	706					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GATGACGCCCGTGCAGCGCCG	0.632000													5	24					0.184627	0.188348	0.184627	1	0
ADPRH	141	broad.mit.edu	37	3	119306668	119306668	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:119306668G>A	ENST00000478399.1	+	4	2422	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000478927.1_Silent_p.E339E|ADPRH_ENST00000465513.1_Silent_p.E339E|ADPRH_ENST00000357003.3_Silent_p.E339E			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	339					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GGCTGGAAGAGACAGCTAGGG	0.443000													26	57					0	0	0.134883	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612373	54612373	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:54612373G>T	ENST00000302287.3	+	2	544	c.138G>T	c.(136-138)atG>atT	p.M46I	VSTM2A_ENST00000404951.1_Missense_Mutation_p.M46I|VSTM2A_ENST00000407838.3_Missense_Mutation_p.M46I|VSTM2A_ENST00000402613.3_Missense_Mutation_p.M46I|VSTM2A_ENST00000402026.2_Missense_Mutation_p.M45I			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	46	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATGTGGAGATGTCCTGCGCCT	0.617000													8	55					1.76689e-08	2.50207e-08	0.335167	1	0
ESR2	2100	broad.mit.edu	37	14	64735616	64735616	+	Silent	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:64735616A>G	ENST00000557772.1	-	3	548	c.549T>C	c.(547-549)taT>taC	p.Y183Y	ESR2_ENST00000358599.5_Silent_p.Y183Y|ESR2_ENST00000353772.3_Silent_p.Y183Y|ESR2_ENST00000341099.4_Silent_p.Y183Y|ESR2_ENST00000357782.2_Silent_p.Y183Y|ESR2_ENST00000555278.1_Silent_p.Y183Y|ESR2_ENST00000553796.1_Silent_p.Y183Y|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Silent_p.Y183Y|ESR2_ENST00000542956.1_Silent_p.Y183Y|ESR2_ENST00000554572.1_Silent_p.Y183Y	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	183					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CTGGACAAATATAATCATTAT	0.418000													13	57					0	0	0.160694	0	0
SCP2	6342	broad.mit.edu	37	1	53480680	53480680	+	Silent	SNP	A	A	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:53480680A>C	ENST00000371514.3	+	12	1368	c.1200A>C	c.(1198-1200)gtA>gtC	p.V400V	SCP2_ENST00000408941.3_5'UTR|SCP2_ENST00000435345.2_5'UTR|SCP2_ENST00000407246.2_Silent_p.V376V|SCP2_ENST00000430330.2_5'UTR|SCP2_ENST00000528311.1_Silent_p.V319V|SCP2_ENST00000488965.1_5'UTR|SCP2_ENST00000371509.4_Silent_p.V356V	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	400					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CTGTGGTTGTAACACTCTACA	0.483000													8	51					0	0	0.069234	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55253683	55253683	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:55253683C>A	ENST00000342376.3	+	3	359	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	KIR2DL3_ENST00000434419.2_Missense_Mutation_p.Q110K|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTCCCCCTATCAGTTGTCAGC	0.527000													19	91					9.04072e-19	1.60592e-18	0.183431	1	0
SLC4A11	83959	broad.mit.edu	37	20	3214910	3214910	+	Silent	SNP	T	T	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:3214910T>G	ENST00000380059.3	-	5	572	c.471A>C	c.(469-471)ctA>ctC	p.L157L	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.L130L|SLC4A11_ENST00000539553.1_Silent_p.L114L	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	130					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGAAGCCATCTAGGTCGCGGT	0.607000													18	117					0	0	0.204396	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180758	142180758	+	RNA	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:142180758G>T	ENST00000390368.2	-	0	166																											GCTCTGTCCTGTCTTCAGGAC	0.527000													6	230					2.32078e-09	3.44924e-09	0.132662	1	0
OR4K1	79544	broad.mit.edu	37	14	20404494	20404494	+	Silent	SNP	C	C	A	rs141997601		TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:20404494C>A	ENST00000285600.4	+	1	728	c.669C>A	c.(667-669)atC>atA	p.I223I		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I223I(1)		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)		TCATTTTGATCGGTGTCCGAT	0.423000													13	107					2.27111e-07	3.08141e-07	0.093190	1	0
MED23	9439	broad.mit.edu	37	6	131914180	131914180	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:131914180C>A	ENST00000403834.3	-	24	3555	c.3382G>T	c.(3382-3384)Gtt>Ttt	p.V1128F	MED23_ENST00000368058.1_Missense_Mutation_p.V1128F|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368068.3_Missense_Mutation_p.V1122F|MED23_ENST00000545957.1_Missense_Mutation_p.V763F|MED23_ENST00000368060.3_Missense_Mutation_p.V1122F|MED23_ENST00000354577.4_Missense_Mutation_p.V1128F			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1122					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GCATTCCCAACTTCTTTGCCT	0.403000													5	33					8.12818e-05	9.71066e-05	0.248553	1	0
TEX15	56154	broad.mit.edu	37	8	30703989	30703989	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:30703989C>A	ENST00000256246.2	-	1	2619	c.2545G>T	c.(2545-2547)Gtg>Ttg	p.V849L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	849										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAGTTACTCACTGGCCCTGAT	0.358000													13	42					3.27435e-08	4.5728e-08	0.119110	1	0
ST18	9705	broad.mit.edu	37	8	53079509	53079509	+	Silent	SNP	C	C	A	rs139354986	byFrequency	TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:53079509C>A	ENST00000276480.7	-	11	1790	c.1107G>T	c.(1105-1107)ccG>ccT	p.P369P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	369						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P369P(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATCCAGGGATCGGGCACTTGG	0.522000													13	111					4.3838e-07	5.88869e-07	0.105934	1	0
RGR	5995	broad.mit.edu	37	10	86008764	86008764	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:86008764C>A	ENST00000359452.4	+	3	373	c.335C>A	c.(334-336)gCc>gAc	p.A112D	RGR_ENST00000358110.5_Missense_Mutation_p.A108D|RGR_ENST00000372092.3_Missense_Mutation_p.S95R	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	108					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						AGCAGTGCAGCCATCGCATGG	0.622000													5	59					8.12818e-05	9.71066e-05	0.248553	1	0
TRPV5	56302	broad.mit.edu	37	7	142605742	142605742	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:142605742C>A	ENST00000265310.1	-	15	2476	c.2128G>T	c.(2128-2130)Ggg>Tgg	p.G710W		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	710	Involved in Ca(2+)-dependent inactivation (By similarity).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TTCAAGTGCCCCAGGGTGTTT	0.547000													5	69					0.00116845	0.00131268	0.217242	1	0
DSCAML1	57453	broad.mit.edu	37	11	117332232	117332232	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:117332232G>T	ENST00000321322.6	-	18	3527	c.3526C>A	c.(3526-3528)Cgc>Agc	p.R1176S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R906S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1116	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGGTGCTGCGCGGGGGCTCT	0.632000													19	37					1.96292e-10	3.02275e-10	0.219247	1	0
DMRT2	10655	broad.mit.edu	37	9	1053751	1053751	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:1053751T>A	ENST00000259622.6	+	2	555	c.555T>A	c.(553-555)aaT>aaA	p.N185K	DMRT2_ENST00000382255.3_Missense_Mutation_p.N185K|DMRT2_ENST00000412350.2_Missense_Mutation_p.N185K|DMRT2_ENST00000302441.6_Missense_Mutation_p.N185K|DMRT2_ENST00000358146.2_Missense_Mutation_p.N185K|DMRT2_ENST00000382251.3_Missense_Mutation_p.N185K			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	185					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		GGAAACAGAATAATTTCGAGC	0.468000													15	50					0	0	0.132662	0	0
PAK7	57144	broad.mit.edu	37	20	9520259	9520259	+	Silent	SNP	A	A	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:9520259A>C	ENST00000378429.3	-	11	2556	c.2010T>G	c.(2008-2010)tcT>tcG	p.S670S	PAK7_ENST00000378423.1_Silent_p.S670S|PAK7_ENST00000353224.5_Silent_p.S670S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	670	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGAGCACTGAAGAAACCTGTG	0.473000													10	172					0	0	0.335167	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113210435	113210435	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:113210435T>C	ENST00000261965.3	-	6	838	c.652A>G	c.(652-654)Acc>Gcc	p.T218A	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.T218A	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	218					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CCTTTTGAGGTAGTGGCTTGT	0.493000													18	21					0	0	0.249174	0	0
SLC6A15	55117	broad.mit.edu	37	12	85264451	85264451	+	Splice_Site	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:85264451T>A	ENST00000266682.5	-	9	1844		c.e9-2		SLC6A15_ENST00000552192.1_Splice_Site|SLC6A15_ENST00000309283.7_Splice_Site	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15						cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTGAACAGCCTGCAAAATACA	0.403000													21	27					0	0	0.219247	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439479	150439479	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:150439479C>A	ENST00000358647.3	+	3	619	c.252C>A	c.(250-252)ccC>ccA	p.P84P	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGACACGCCCTCCATCTTTG	0.587000													16	54					1.56452e-12	2.52947e-12	0.189662	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216001	20216001	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:20216001C>A	ENST00000331723.1	+	1	415	c.415C>A	c.(415-417)Ccc>Acc	p.P139T		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTCATGAACCCCCAGCTATG	0.502000													6	81					0.00198382	0.00220122	0.248553	1	0
THSD7A	221981	broad.mit.edu	37	7	11871399	11871399	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:11871399G>A	ENST00000423059.3	-	1	425	c.174C>T	c.(172-174)ctC>ctT	p.L58L		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	58	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCCACAGATAGAGGGTGGGCG	0.677000										HNSCC(18;0.044)			3	10					0	0	0.115264	0	0
SLC39A11	201266	broad.mit.edu	37	17	70845807	70845807	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:70845807C>A	ENST00000542342.2	-	6	676	c.588G>T	c.(586-588)ctG>ctT	p.L196L	SLC39A11_ENST00000255559.3_Silent_p.L189L|SLC39A11_ENST00000579732.1_Silent_p.L189L	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	196					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CCAAGATGAGCAGTGCGATCC	0.592000													6	72					0.248553	0.252607	0.248553	1	0
MOB1B	92597	broad.mit.edu	37	4	71840984	71840984	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:71840984G>T	ENST00000309395.2	+	4	591	c.390G>T	c.(388-390)acG>acT	p.T130T	MOB1B_ENST00000396051.2_Silent_p.T135T|MOB1B_ENST00000511449.1_Intron	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOL1A_HUMAN	MOB kinase activator 1B	130					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding										ATGATGAGACGTTATTTCCAT	0.348000													7	64					2.68362e-12	4.32153e-12	0.093190	1	0
TMC3	342125	broad.mit.edu	37	15	81637141	81637141	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:81637141G>A	ENST00000558726.1	-	13	1622	c.1487C>T	c.(1486-1488)cCa>cTa	p.P496L	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.P495L			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	495						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CTGGTCTTGTGGACTCTGAGT	0.478000													6	35					0	0	0.217242	0	0
EXTL1	2134	broad.mit.edu	37	1	26360245	26360245	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:26360245C>T	ENST00000374280.3	+	9	2444	c.1577C>T	c.(1576-1578)aCg>aTg	p.T526M		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	526					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	p.T526M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCCTGACGTCGAGCCAT	0.582000													22	72					0	0	0.264190	0	0
CRB1	23418	broad.mit.edu	37	1	197403855	197403855	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:197403855T>G	ENST00000367397.1	+	5	1863	c.1005T>G	c.(1003-1005)ttT>ttG	p.F335L	CRB1_ENST00000535699.1_Missense_Mutation_p.F930L|CRB1_ENST00000367400.3_Missense_Mutation_p.F954L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.F842L|CRB1_ENST00000544212.1_Missense_Mutation_p.F435L			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	954	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATGCTGTTTTTAATGGACAAA	0.303000													5	109					0	0	0.184627	0	0
FGD5	152273	broad.mit.edu	37	3	14861776	14861776	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:14861776C>G	ENST00000285046.5	+	1	1308	c.1198C>G	c.(1198-1200)Cta>Gta	p.L400V	FGD5_ENST00000543601.1_Missense_Mutation_p.L159V	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	400					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTGTGGCTCCCTACAGGGTGG	0.622000													4	24					0	0	0.217242	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91360853	91360853	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:91360853G>A	ENST00000261991.3	-	13	1721	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	RPS6KA5_ENST00000536315.2_Silent_p.F437F|RPS6KA5_ENST00000418736.2_Silent_p.F516F	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	516	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CCGTCTCACTGAAGTGCTTCT	0.443000													4	51					0	0	0.150653	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546983	37546983	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:37546983C>T	ENST00000299824.1	+	11	1567	c.1378C>T	c.(1378-1380)Cct>Tct	p.P460S	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.P418S	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	460					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CTATGGCAACCCTGGCGTGGC	0.652000													55	128					0	0	0.323286	0	0
PSG5	5673	broad.mit.edu	37	19	43688994	43688994	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:43688994T>A	ENST00000404580.1	-	2	458	c.370A>T	c.(370-372)Atc>Ttc	p.I124F	PSG5_ENST00000599812.1_Missense_Mutation_p.I124F|PSG5_ENST00000407568.1_Missense_Mutation_p.I124F|PSG5_ENST00000407356.1_Missense_Mutation_p.I124F|PSG5_ENST00000366175.3_Missense_Mutation_p.I124F|PSG5_ENST00000342951.6_Missense_Mutation_p.I124F|PSG5_ENST00000401992.1_5'UTR			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	124	Ig-like V-type.				female pregnancy	extracellular region		p.I124F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CGCTTTATGATGTGTAAGGTG	0.483000													257	190					0	0	0.323286	0	0
MOS	4342	broad.mit.edu	37	8	57026314	57026314	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:57026314C>T	ENST00000311923.1	-	1	227	c.228G>A	c.(226-228)aaG>aaA	p.K76K		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	76	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GGTAAGTCGCCTTGTACACCG	0.617000													12	74					0	0	0.119110	0	0
SLC22A2	6582	broad.mit.edu	37	6	160645737	160645737	+	Splice_Site	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:160645737C>A	ENST00000366953.3	-	10	1859	c.1601_splice	c.e10+1	p.R534_splice	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	534					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AACTGCCTACCTTTGCATATT	0.413000													13	58					3.27435e-08	4.5728e-08	0.119110	1	0
KDM4E	390245	broad.mit.edu	37	11	94759390	94759390	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:94759390G>A	ENST00000450979.2	+	1	969	c.669G>A	c.(667-669)ctG>ctA	p.L223L		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	223	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						TGGAACGCCTGGCCAGGGAGC	0.562000													8	19					0	0	0.278610	0	0
XPO1	7514	broad.mit.edu	37	2	61720116	61720116	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:61720116C>T	ENST00000401558.2	-	13	2045	c.1318G>A	c.(1318-1320)Gtt>Att	p.V440I	XPO1_ENST00000406957.1_Missense_Mutation_p.V440I|XPO1_ENST00000404992.2_Missense_Mutation_p.V440I	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	440	Interaction with RANBP3.|Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TCTCTCACAACTTCTCCTTGA	0.318000			Mis		CLL								13	109					0	0	0.105934	0	0
OR51V1	283111	broad.mit.edu	37	11	5221650	5221650	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:5221650A>T	ENST00000321255.1	-	1	280	c.281T>A	c.(280-282)cTg>cAg	p.L94Q		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCCCCCACAGGATCCCCAG	0.542000													8	20					0	0	0.307466	0	0
XIRP2	129446	broad.mit.edu	37	2	168107581	168107581	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:168107581A>G	ENST00000409195.1	+	9	9768	c.9679A>G	c.(9679-9681)Ata>Gta	p.I3227V	XIRP2_ENST00000295237.9_Missense_Mutation_p.I3227V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I3005V|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3052					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAAATTAAGATAGAAACTCG	0.458000													3	70					0	0	0.115264	0	0
TEAD3	7005	broad.mit.edu	37	6	35444099	35444099	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:35444099C>T	ENST00000338863.7	-	9	933	c.706G>A	c.(706-708)Gtg>Atg	p.V236M	TEAD3_ENST00000402886.3_Missense_Mutation_p.V176M	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN	TEA domain family member 3	236	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						TCTCGCTGCACCTCCATGAAG	0.637000													3	45					0	0	0.115264	0	0
VPS13D	55187	broad.mit.edu	37	1	12387806	12387806	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:12387806G>T	ENST00000358136.3	+	36	8222	c.8092G>T	c.(8092-8094)Gcg>Tcg	p.A2698S	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2698S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2698					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGCTGTGGCAGCGCCATTGAT	0.507000													13	101					4.3838e-07	5.88869e-07	0.105934	1	0
CSMD3	114788	broad.mit.edu	37	8	113301729	113301729	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:113301729C>A	ENST00000297405.5	-	57	9257	c.9013G>T	c.(9013-9015)Gtc>Ttc	p.V3005F	CSMD3_ENST00000343508.3_Missense_Mutation_p.V2965F|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2836F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V2935F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3005	Sushi 21.					integral to membrane|plasma membrane		p.V2965F(1)|p.V3005F(1)		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						CCAGACAGGACTGCATTAGGA	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	16					1.49906e-05	1.86519e-05	0.119110	1	0
USP33	23032	broad.mit.edu	37	1	78193990	78193990	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:78193990G>A	ENST00000370793.1	-	11	1564	c.1218C>T	c.(1216-1218)agC>agT	p.S406S	USP33_ENST00000357428.1_Silent_p.S406S|USP33_ENST00000370792.3_Silent_p.S406S|USP33_ENST00000370794.3_Silent_p.S375S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	406					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CTGAAGCTCTGCTGTGTATTT	0.318000													16	66					0	0	0.160694	0	0
NMUR1	10316	broad.mit.edu	37	2	232390093	232390093	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:232390093G>T	ENST00000305141.4	-	3	1075	c.942C>A	c.(940-942)caC>caA	p.H314Q		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	314					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGCGGTCGGCGTGGAACGGGG	0.647000													4	37					5.9392e-07	7.95166e-07	0.217242	1	0
ARL2	402	broad.mit.edu	37	11	64789251	64789251	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:64789251T>C	ENST00000246747.4	+	5	574	c.479T>C	c.(478-480)gTc>gCc	p.V160A	ARL2_ENST00000533729.1_Missense_Mutation_p.V133A|SNX15_ENST00000301886.3_Intron|ARL2_ENST00000529384.1_Missense_Mutation_p.V160A	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	160					cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						TGCAGCGCCGTCACCGGGGAG	0.622000													8	16					0	0	0.278610	0	0
CNTN5	53942	broad.mit.edu	37	11	100226948	100226948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:100226948G>A	ENST00000524871.1	+	25	3590	c.3300G>A	c.(3298-3300)tgG>tgA	p.W1100*	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.W1100*|CNTN5_ENST00000418526.2_Nonsense_Mutation_p.W1026*|CNTN5_ENST00000279463.3_Nonsense_Mutation_p.W1100*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1100					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.W1100*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAACTTCCTGGTGAAAACTGC	0.443000													13	6					0	0	0.093190	0	0
CR1	1378	broad.mit.edu	37	1	207679247	207679247	+	Splice_Site	SNP	A	A	T	rs56156287		TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:207679247A>T	ENST00000367049.4	+	2	121		c.e2-1		CR1_ENST00000400960.2_Splice_Site|CR1_ENST00000367053.1_Splice_Site|CR1_ENST00000367050.4_Splice_Site|CR1_ENST00000367052.1_Splice_Site|CR1_ENST00000367051.1_Splice_Site	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)						complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTGATCTCCAGGTCAATGCA	0.433000													34	64					0	0	0.153744	0	0
ITGB8	3696	broad.mit.edu	37	7	20418723	20418723	+	Silent	SNP	T	T	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:20418723T>G	ENST00000222573.3	+	4	1122	c.438T>G	c.(436-438)ccT>ccG	p.P146P	ITGB8_ENST00000537992.1_Silent_p.P11P	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	146	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AGAAATATCCTGTGGATCTTT	0.308000													9	95					0	0	0.335167	0	0
ZNF536	9745	broad.mit.edu	37	19	30935040	30935040	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:30935040C>A	ENST00000355537.3	+	2	718	c.571C>A	c.(571-573)Cgt>Agt	p.R191S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R191S(1)|p.R191C(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGGCGTGGGCGTGTGCGCGA	0.677000													17	6					9.7654e-05	0.000116494	0.189662	1	0
GCC1	79571	broad.mit.edu	37	7	127222944	127222944	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:127222944C>T	ENST00000321407.2	-	2	1876	c.1452G>A	c.(1450-1452)gaG>gaA	p.E484E	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	484						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTGTTTCAGCTCCTGTTGGT	0.512000													16	83					0	0	0.160694	0	0
GOSR1	9527	broad.mit.edu	37	17	28811679	28811679	+	Splice_Site	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:28811679A>G	ENST00000225724.5	+	4	312		c.e4-1		GOSR1_ENST00000467337.2_Splice_Site|GOSR1_ENST00000581721.1_Splice_Site|GOSR1_ENST00000451249.2_Splice_Site	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1						intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CTTTATTTCTAGCTTACAGGG	0.363000													4	20					0	0	0.184627	0	0
ITGA4	3676	broad.mit.edu	37	2	182360581	182360581	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:182360581G>C	ENST00000397033.2	+	14	1887	c.1457G>C	c.(1456-1458)tGt>tCt	p.C486S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	486					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAATTTGACTGTGTTGAAAAT	0.398000													12	110					0	0	0.093190	0	0
AKAP9	10142	broad.mit.edu	37	7	91711944	91711944	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:91711944G>C	ENST00000359028.2	+	33	8389	c.8164G>C	c.(8164-8166)Gaa>Caa	p.E2722Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E2722Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E2710Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2722	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGTTATAAAGAAAAGGCTGA	0.343000			T	BRAF	papillary thyroid								5	94					0	0	0.217242	0	0
POLR2B	5431	broad.mit.edu	37	4	57856922	57856922	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:57856922T>G	ENST00000381227.1	+	4	514	c.101T>G	c.(100-102)tTt>tGt	p.F34C	POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000441246.2_Missense_Mutation_p.F27C|POLR2B_ENST00000314595.5_Missense_Mutation_p.F34C			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	34					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGTTCCTATTTTGACGAGAAA	0.363000													9	118					0	0	0.307466	0	0
MUC16	94025	broad.mit.edu	37	19	9065439	9065439	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:9065439G>A	ENST00000397910.4	-	3	22210	c.22007C>T	c.(22006-22008)aCa>aTa	p.T7336I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7338	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						ACTCTCTGATGTAGACCCAGG	0.438000													9	17					0	0	0.069234	0	0
TTLL5	23093	broad.mit.edu	37	14	76211925	76211925	+	Splice_Site	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:76211925G>T	ENST00000298832.9	+	17	1692		c.e17+1		TTLL5_ENST00000556893.1_Splice_Site|TTLL5_ENST00000554510.1_Splice_Site|TTLL5_ENST00000555422.1_Splice_Site|TTLL5_ENST00000557636.1_Splice_Site	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5						protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AAATATATGGGTGAGGTGACT	0.398000													5	21					1.024e-07	1.41785e-07	0.184627	1	0
RBP3	5949	broad.mit.edu	37	10	48388176	48388176	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:48388176G>A	ENST00000224600.4	-	1	2815	c.2702C>T	c.(2701-2703)gCc>gTc	p.A901V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	901	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCCTGTGGTGGCACTCATGGC	0.627000													14	65					0	0	0.132662	0	0
CSMD3	114788	broad.mit.edu	37	8	114110984	114110984	+	Splice_Site	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:114110984C>T	ENST00000297405.5	-	5	1162		c.e5+1		CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000519485.1_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							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						TATTTACTTACCATATGGTAG	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	38					0	0	0.115264	0	0
TRPM6	140803	broad.mit.edu	37	9	77377884	77377884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:77377884C>A	ENST00000451710.3	-	26	3940	c.3703G>T	c.(3703-3705)Gag>Tag	p.E1235*	TRPM6_ENST00000360774.1_Nonsense_Mutation_p.E1235*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E1230*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E1235*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E1230*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1235					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGGAGAGCCTCATCCTCTTGC	0.517000													15	38					1.52009e-12	2.47244e-12	0.132662	1	0
SEMA5A	9037	broad.mit.edu	37	5	9154783	9154783	+	Missense_Mutation	SNP	C	C	A	rs138343991	by1000genomes	TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:9154783C>A	ENST00000382496.5	-	12	1963	c.1298G>T	c.(1297-1299)cGg>cTg	p.R433L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	433	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGGGGTACCCGCACTTTCTT	0.512000													5	98					0.184627	0.188348	0.184627	1	0
NDST4	64579	broad.mit.edu	37	4	115997901	115997901	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:115997901T>C	ENST00000264363.2	-	2	970	c.292A>G	c.(292-294)Att>Gtt	p.I98V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	98	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GACTCCAAAATAGCTATGATA	0.428000													9	62					0	0	0.335167	0	0
TP53	7157	broad.mit.edu	37	17	7579485	7579485	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:7579485C>A	ENST00000420246.2	-	4	334	c.202G>T	c.(202-204)Gag>Tag	p.E68*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	68	Interaction with HRMT1L2.|Interaction with WWOX.		E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; 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.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(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)		GGAGCAGCCTCTGGCATTCTG	0.607000		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)			38	71					1.96642e-18	3.47773e-18	0.246493	1	0
C1orf173	127254	broad.mit.edu	37	1	75038046	75038046	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:75038046T>A	ENST00000326665.5	-	14	3566	c.3348A>T	c.(3346-3348)aaA>aaT	p.K1116N	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1116	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTGGGGGAGCTTTTGTCTCTT	0.443000													16	77					0	0	0.146539	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649622	20649622	+	RNA	SNP	G	G	T	rs145283044		TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:20649622G>T	ENST00000428453.1	-	0	2576																		p.D629D(1)		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						TTATCCACCCGTCCTCTCCCA	0.572000													5	36					8.12818e-05	9.71066e-05	0.248553	1	0
ZNF716	441234	broad.mit.edu	37	7	57522778	57522778	+	Splice_Site	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:57522778G>A	ENST00000420713.1	+	3	278		c.e3-1			NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TAATAAAACAGGTATTGCTGT	0.348000													7	91					0	0	0.278610	0	0
MYH13	8735	broad.mit.edu	37	17	10206554	10206554	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:10206554G>T	ENST00000418404.3	-	38	5789	c.5626C>A	c.(5626-5628)Cag>Aag	p.Q1876K	MYH13_ENST00000570743.1_Missense_Mutation_p.Q1876K|MYH13_ENST00000252172.4_Missense_Mutation_p.Q1876K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1876					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACTTTGGCCTGCAGCTTGTCC	0.597000													9	114					0.0477658	0.0497944	0.307466	1	0
MTR	4548	broad.mit.edu	37	1	236988699	236988699	+	Splice_Site	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:236988699G>T	ENST00000366577.5	+	10	1321	c.927_splice	c.e10+1	p.K309_splice	MTR_ENST00000535889.1_Splice_Site_p.K309_splice	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	309	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGCACCTAAAGGTCAGGGGTC	0.398000													15	121					5.3912e-06	6.87697e-06	0.175082	1	0
CARD6	84674	broad.mit.edu	37	5	40853101	40853101	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:40853101T>A	ENST00000254691.5	+	3	1866	c.1667T>A	c.(1666-1668)tTc>tAc	p.F556Y	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	556					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTGTTTTTTTTCACTGACTGT	0.423000													5	182					0	0	0.184627	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48872253	48872253	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:48872253T>C	ENST00000394754.1	+	7	2611	c.2497T>C	c.(2497-2499)Tct>Cct	p.S833P	LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S833P|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.S129P|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S833P|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S95P|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S833P	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		786					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGACTGTATCTGGTGAGAG	0.333000													8	51					0	0	0.335167	0	0
ANO3	63982	broad.mit.edu	37	11	26552836	26552836	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:26552836G>A	ENST00000256737.3	+	8	1674	c.822G>A	c.(820-822)gaG>gaA	p.E274E	ANO3_ENST00000525139.1_Silent_p.E258E|ANO3_ENST00000531568.1_Silent_p.E128E|ANO3_ENST00000537978.1_Silent_p.E258E	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	274						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAGACCTAGAGGAGTCAGACT	0.458000													11	84					0	0	0.080935	0	0
RERGL	79785	broad.mit.edu	37	12	18234319	18234319	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:18234319C>A	ENST00000229002.2	-	6	630	c.424G>T	c.(424-426)Gca>Tca	p.A142S	RERGL_ENST00000538724.1_Missense_Mutation_p.A141S|RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	142	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.A142S(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTTCCAGTGCCAGCTTTTGC	0.453000													26	32					7.41945e-09	1.07126e-08	0.324025	1	0
AKAP9	10142	broad.mit.edu	37	7	91714919	91714919	+	Silent	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:91714919A>G	ENST00000359028.2	+	36	9180	c.8955A>G	c.(8953-8955)ctA>ctG	p.L2985L	AKAP9_ENST00000358100.2_Silent_p.L2931L|AKAP9_ENST00000356239.3_Silent_p.L2981L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2985					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)			AACCTTGGCTAGAAGAGAGAA	0.413000			T	BRAF	papillary thyroid								25	42					0	0	0.338820	0	0
OR8J1	219477	broad.mit.edu	37	11	56128118	56128118	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:56128118C>T	ENST00000303039.3	+	1	428	c.396C>T	c.(394-396)taC>taT	p.Y132Y		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	132					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)					CTCTGCTGTACATGGTGGTGG	0.488000													23	60					0	0	0.309145	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576789	33576789	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:33576789G>T	ENST00000504830.1	-	19	3677	c.3342C>A	c.(3340-3342)acC>acA	p.T1114T	ADAMTS12_ENST00000352040.3_Silent_p.T1029T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1114	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTCCCTCCGAGGTAGGACCAG	0.488000										HNSCC(64;0.19)			17	63					9.16793e-09	1.31434e-08	0.160694	1	0
OR4C6	219432	broad.mit.edu	37	11	55433258	55433258	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:55433258G>T	ENST00000314259.3	+	1	645	c.616G>T	c.(616-618)Gtg>Ttg	p.V206L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GATGATGTGTGTGGCCATCTT	0.483000													38	55					3.09479e-21	5.608e-21	0.246493	1	0
SLC1A6	6511	broad.mit.edu	37	19	15061096	15061096	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:15061096G>T	ENST00000430939.2	-	9	1543	c.1414C>A	c.(1414-1416)Ctc>Atc	p.L472I	SLC1A6_ENST00000600144.1_Missense_Mutation_p.L458I|SLC1A6_ENST00000221742.3_Missense_Mutation_p.L536I			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	536					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AGGCTGGGGAGGGTAAGCTCA	0.617000													16	30					5.01169e-05	6.11366e-05	0.160694	1	0
ERN2	10595	broad.mit.edu	37	16	23712312	23712312	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:23712312G>A	ENST00000256797.4	-	12	1639	c.1471C>T	c.(1471-1473)Ctg>Ttg	p.L491L	ERN2_ENST00000457008.2_Intron	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	443				RRSQ -> LRSK (in Ref. 1; BAB21297).	apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CACCCTCCCAGGAGGACAGCA	0.572000													6	43					0	0	0.217242	0	0
NTRK3	4916	broad.mit.edu	37	15	88524502	88524502	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:88524502C>G	ENST00000317501.3	-	14	1836	c.1675G>C	c.(1675-1677)Gaa>Caa	p.E559Q	NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.E559Q|NTRK3_ENST00000558676.1_Intron	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			acctcaggttcctcatatata	0.433000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			6	10					0	0	0.217242	0	0
RCVRN	5957	broad.mit.edu	37	17	9801495	9801495	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:9801495C>T	ENST00000226193.5	-	3	960	c.520G>A	c.(520-522)Gag>Aag	p.E174K	RCVRN_ENST00000570909.2_Missense_Mutation_p.E43K	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	174	EF-hand 4.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						AGTGTCCCCTCAATGAATTCT	0.423000													21	102					0	0	0.279207	0	0
HEPH	9843	broad.mit.edu	37	X	65423352	65423352	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:65423352G>A	ENST00000519389.1	+	13	2565	c.2386G>A	c.(2386-2388)Gta>Ata	p.V796I	HEPH_ENST00000441993.2_Missense_Mutation_p.V745I|HEPH_ENST00000343002.2_Missense_Mutation_p.V742I|HEPH_ENST00000336279.5_Missense_Mutation_p.V475I|HEPH_ENST00000419594.1_Missense_Mutation_p.V553I|HEPH_ENST00000374727.3_Missense_Mutation_p.V745I			Q9BQS7	HEPH_HUMAN	hephaestin	742	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCAGAAGAAGTAGAGTGGGA	0.502000													4	16					0	0	0.150653	0	0
FOXRED1	55572	broad.mit.edu	37	11	126142964	126142964	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:126142964G>T	ENST00000263578.5	+	3	481	c.407G>T	c.(406-408)cGg>cTg	p.R136L	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Missense_Mutation_p.R122L|FOXRED1_ENST00000442061.2_5'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	136						integral to membrane|mitochondrion	oxidoreductase activity|protein binding	p.R136L(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AGCTTTCTACGGAACATCAAT	0.532000													19	27					1.00905e-13	1.67829e-13	0.204396	1	0
MBOAT2	129642	broad.mit.edu	37	2	9098626	9098626	+	Splice_Site	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:9098626C>A	ENST00000305997.3	-	2	419	c.221_splice	c.e2+1	p.W74_splice	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	74					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATTACTTACCATCCAAAGCA	0.318000													8	48					0.000157383	0.000185561	0.278610	1	0
CNTN1	1272	broad.mit.edu	37	12	41312565	41312565	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:41312565G>A	ENST00000551295.2	+	4	336	c.219G>A	c.(217-219)ccG>ccA	p.P73P	CNTN1_ENST00000547849.1_Silent_p.P73P|CNTN1_ENST00000547702.1_Silent_p.P73P|CNTN1_ENST00000360099.3_Silent_p.P73P|CNTN1_ENST00000348761.2_Silent_p.P62P|CNTN1_ENST00000347616.1_Silent_p.P73P	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	73	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCCCTTTCCCGGTTTACAAGT	0.428000													19	92					0	0	0.234183	0	0
LYST	1130	broad.mit.edu	37	1	235894397	235894397	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:235894397C>A	ENST00000389794.3	-	35	9056	c.8882G>T	c.(8881-8883)cGt>cTt	p.R2961L	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R2961L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2961					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R2961L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTCTGTAAACGTCTCCTCTC	0.378000													38	46					4.62619e-21	8.36432e-21	0.203993	1	0
BRINP3	339479	broad.mit.edu	37	1	190203594	190203594	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:190203594C>A	ENST00000367462.3	-	5	863	c.632G>T	c.(631-633)cGg>cTg	p.R211L	FAM5C_ENST00000534846.1_Missense_Mutation_p.R109L|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		211						extracellular region		p.R211Q(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGGACCAGTCCGTGTTTCTGT	0.383000													18	34					1.33834e-09	1.99274e-09	0.189662	1	0
LPA	4018	broad.mit.edu	37	6	161027644	161027644	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:161027644G>T	ENST00000447678.1	-	18	2770	c.2650C>A	c.(2650-2652)Cct>Act	p.P884T	LPA_ENST00000316300.5_Missense_Mutation_p.P884T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3392	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.P884A(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAACAATAAGGGGCTGCCACA	0.517000													18	76					5.03518e-11	7.84327e-11	0.189662	1	0
ESYT3	83850	broad.mit.edu	37	3	138188971	138188971	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:138188971G>T	ENST00000389567.4	+	16	1759	c.1573G>T	c.(1573-1575)Gag>Tag	p.E525*		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	525	C2 2.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGTGGCCACTGAGCGGCTCCA	0.522000													5	27					0.217242	0.221341	0.217242	1	0
IFLTD1	160492	broad.mit.edu	37	12	25672876	25672876	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:25672876G>A	ENST00000539744.1	-	7	1057	c.578C>T	c.(577-579)gCt>gTt	p.A193V	IFLTD1_ENST00000458174.2_Missense_Mutation_p.A311V|IFLTD1_ENST00000282881.6_Missense_Mutation_p.A290V|IFLTD1_ENST00000413632.2_Missense_Mutation_p.A271V|IFLTD1_ENST00000445693.1_Missense_Mutation_p.A227V	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	290						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					AGTTATTGTAGCTGTAGATGC	0.378000													9	46					0	0	0.307466	0	0
OR8K1	390157	broad.mit.edu	37	11	56113723	56113723	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:56113723G>T	ENST00000279783.2	+	1	303	c.209G>T	c.(208-210)aGa>aTa	p.R70I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R70K(1)		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)					TTTTTCCTTAGACATTTGTCA	0.403000										HNSCC(65;0.19)			22	113					3.62473e-10	5.53968e-10	0.234183	1	0
DYSF	8291	broad.mit.edu	37	2	71780983	71780983	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:71780983G>T	ENST00000258104.3	+	21	2254	c.1977G>T	c.(1975-1977)gtG>gtT	p.V659V	DYSF_ENST00000410020.3_Silent_p.V677V|DYSF_ENST00000413539.2_Silent_p.V690V|DYSF_ENST00000410041.1_Silent_p.V677V|DYSF_ENST00000429174.2_Silent_p.V659V|DYSF_ENST00000409366.1_Silent_p.V660V|DYSF_ENST00000409651.1_Silent_p.V691V|DYSF_ENST00000394120.2_Silent_p.V660V|DYSF_ENST00000409582.3_Silent_p.V676V|DYSF_ENST00000409762.1_Silent_p.V676V|DYSF_ENST00000409744.1_Silent_p.V646V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	659						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AACCTGTGGTGGTGCTGTCAT	0.577000													5	21					0.014758	0.0156261	0.184627	1	0
ZNF492	57615	broad.mit.edu	37	19	22847720	22847720	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:22847720G>T	ENST00000456783.2	+	4	1493	c.1249G>T	c.(1249-1251)Gga>Tga	p.G417*		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AATTCATACTGGAGAGAAACC	0.373000													12	82					3.07112e-06	3.96747e-06	0.080935	1	0
SLX4	84464	broad.mit.edu	37	16	3640110	3640110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:3640110C>A	ENST00000294008.3	-	12	4169	c.3529G>T	c.(3529-3531)Gaa>Taa	p.E1177*		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1177	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTCTTTTCTTCCAGAGGATCA	0.453000								Direct reversal of damage					31	133					1.08052e-11	1.70608e-11	0.203993	1	0
SHQ1	55164	broad.mit.edu	37	3	72799761	72799761	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:72799761C>G	ENST00000325599.8	-	11	1547	c.1408G>C	c.(1408-1410)Gac>Cac	p.D470H	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Missense_Mutation_p.D442H	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	470	Ser-rich.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GAGCCTGAGTCTTCGTTTCCA	0.478000													10	32					0	0	0.335167	0	0
PARN	5073	broad.mit.edu	37	16	14687236	14687236	+	Splice_Site	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:14687236C>A	ENST00000437198.2	-	13	982		c.e13-1		PARN_ENST00000539279.1_Splice_Site|PARN_ENST00000420015.2_Splice_Site|PARN_ENST00000341484.7_Splice_Site	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease						female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CAAGTTTTCCCTAAAGAAAGT	0.408000													3	16					6.4e-05	7.71599e-05	0.115264	1	0
ITPR2	3709	broad.mit.edu	37	12	26775287	26775287	+	Silent	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:26775287T>C	ENST00000381340.3	-	25	3590	c.3174A>G	c.(3172-3174)ttA>ttG	p.L1058L	ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1058					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGAGGACCCGTAAAAACGTCC	0.423000													12	42					0	0	0.105934	0	0
CPS1	1373	broad.mit.edu	37	2	211455616	211455616	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:211455616G>A	ENST00000233072.5	+	9	1129	c.933G>A	c.(931-933)atG>atA	p.M311I	CPS1_ENST00000430249.2_Missense_Mutation_p.M317I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	311	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCTACAAGATGTCCATGGCCA	0.408000													5	36					0	0	0.184627	0	0
FAM135B	51059	broad.mit.edu	37	8	139163465	139163465	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:139163465C>A	ENST00000395297.1	-	13	3423	c.3253G>T	c.(3253-3255)Gat>Tat	p.D1085Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1085								p.D1085N(2)		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)			ACTTCCTCATCCAACGTGCTG	0.478000										HNSCC(54;0.14)			7	25					0.0381472	0.0398186	0.278610	1	0
PNPLA3	80339	broad.mit.edu	37	22	44332968	44332968	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr22:44332968C>T	ENST00000216180.3	+	6	968	c.795C>T	c.(793-795)tcC>tcT	p.S265S	PNPLA3_ENST00000423180.2_Silent_p.S261S	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	265					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TGAAGTCATCCTCAGAAGGGA	0.612000													8	21					0	0	0.335167	0	0
ZAN	7455	broad.mit.edu	37	7	100386844	100386844	+	RNA	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:100386844A>G	ENST00000542585.1	+	0	7377				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTTTAGGTCAACAACCAGAAG	0.567000													4	34					0	0	0.150653	0	0
RYR3	6263	broad.mit.edu	37	15	34023790	34023790	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:34023790C>T	ENST00000389232.4	+	48	7389	c.7319C>T	c.(7318-7320)tCt>tTt	p.S2440F	RYR3_ENST00000415757.3_Missense_Mutation_p.S2440F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2440	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)		CACTGCACCTCTCTGATTGAT	0.483000													3	12					0	0	0.150653	0	0
BAMBI	25805	broad.mit.edu	37	10	28970376	28970376	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:28970376C>T	ENST00000375533.3	+	2	822	c.266C>T	c.(265-267)tCt>tTt	p.S89F		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	89					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CGAAACCACTCTGGCACCACC	0.542000													6	85					0	0	0.217242	0	0
AKAP3	10566	broad.mit.edu	37	12	4736765	4736765	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:4736765A>T	ENST00000545990.2	-	5	1827	c.1303T>A	c.(1303-1305)Tat>Aat	p.Y435N	AKAP3_ENST00000228850.1_Missense_Mutation_p.Y435N	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	435					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGTTCAGAATACATTTTTTCT	0.403000													8	129					0	0	0.307466	0	0
C3orf30	152405	broad.mit.edu	37	3	118866368	118866368	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:118866368C>A	ENST00000295622.1	+	1	1372	c.1332C>A	c.(1330-1332)ccC>ccA	p.P444P	RP11-484M3.5_ENST00000490594.1_Silent_p.P49P	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	444										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAAGACTCCCCTCCATCTCAT	0.428000													5	51					8.12818e-05	9.71066e-05	0.248553	1	0
RRP12	23223	broad.mit.edu	37	10	99130006	99130006	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:99130006C>A	ENST00000370992.4	-	24	2826	c.2715G>T	c.(2713-2715)ctG>ctT	p.L905L	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Silent_p.L844L|RRP12_ENST00000315563.6_Silent_p.L805L|RRP12_ENST00000536831.1_Silent_p.L623L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	905						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CAGGGTAGATCAGGACGAGGT	0.597000													3	6					0.004672	0.00507282	0.115264	1	0
GPAM	57678	broad.mit.edu	37	10	113933594	113933594	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:113933594C>A	ENST00000348367.4	-	7	620	c.423G>T	c.(421-423)gaG>gaT	p.E141D	GPAM_ENST00000369425.1_Missense_Mutation_p.E141D|GPAM_ENST00000423155.1_Missense_Mutation_p.E141D			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	141					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CTGCAATTGCCTCTTGTACTC	0.363000													14	61					3.27435e-08	4.5728e-08	0.119110	1	0
AQP8	343	broad.mit.edu	37	16	25235883	25235883	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:25235883G>T	ENST00000219660.5	+	4	713	c.588G>T	c.(586-588)gtG>gtT	p.V196V	AQP8_ENST00000566125.1_Silent_p.V190V	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	196					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CCGTCACCGTGGATATCCTGG	0.597000													3	28					0.004672	0.00507282	0.115264	1	0
KALRN	8997	broad.mit.edu	37	3	124211594	124211594	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:124211594A>G	ENST00000360013.3	+	32	4818	c.4691A>G	c.(4690-4692)aAc>aGc	p.N1564S	KALRN_ENST00000240874.3_Missense_Mutation_p.N1564S|KALRN_ENST00000460856.1_Missense_Mutation_p.N1555S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1564	PH 1.				apoptosis|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|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TAGGCCTCCAACATTGAAACC	0.468000													6	36					0	0	0.217242	0	0
F13A1	2162	broad.mit.edu	37	6	6266798	6266798	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:6266798C>A	ENST00000264870.3	-	4	829	c.564G>T	c.(562-564)tgG>tgT	p.W188C		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	188					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TACCTTCACACCAAGGATTGA	0.473000													13	156					5.50884e-06	7.00496e-06	0.093190	1	0
CSMD1	64478	broad.mit.edu	37	8	3081281	3081281	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:3081281G>A	ENST00000520002.1	-	29	5012	c.4457C>T	c.(4456-4458)cCg>cTg	p.P1486L	CSMD1_ENST00000602557.1_Missense_Mutation_p.P1486L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1486L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1485L|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1485L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1485L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1486L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1486	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GACAAAGTCCGGGTTCACTTT	0.433000													8	33					0	0	0.080935	0	0
HAUS1	115106	broad.mit.edu	37	18	43705725	43705725	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr18:43705725C>G	ENST00000585518.1	+	5	369	c.359C>G	c.(358-360)tCa>tGa	p.S120*	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000282058.6_Missense_Mutation_p.Q252E			Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	0					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GTCTCTTGCTCAAGTGAAAAT	0.289000													12	16					0	0	0.119110	0	0
PLD1	5337	broad.mit.edu	37	3	171377053	171377053	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:171377053C>A	ENST00000356327.5	-	20	2335	c.2265G>T	c.(2263-2265)gtG>gtT	p.V755V	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Silent_p.V793V|PLD1_ENST00000340989.4_Silent_p.V793V	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	793	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCTTGTTGAACACAACTTTGT	0.388000													30	148					4.31634e-10	6.58424e-10	0.163468	1	0
KCNA4	3739	broad.mit.edu	37	11	30033147	30033147	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:30033147T>A	ENST00000328224.6	-	2	2312	c.1079A>T	c.(1078-1080)gAg>gTg	p.E360V		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	360						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCCTGAGTTCTCCAGATGGGG	0.488000													6	57					0	0	0.248553	0	0
PODXL2	50512	broad.mit.edu	37	3	127379946	127379946	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:127379946C>A	ENST00000342480.6	+	3	1114	c.1075C>A	c.(1075-1077)Ctc>Atc	p.L359I		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	359					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CAACCAGCAGCTCCTAGAAGG	0.567000													13	36					1.49906e-05	1.86519e-05	0.119110	1	0
RNF213	57674	broad.mit.edu	37	17	78272184	78272184	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:78272184G>T	ENST00000582970.1	+	11	2219	c.2076G>T	c.(2074-2076)ctG>ctT	p.L692L	RNF213_ENST00000456466.1_Silent_p.L692L|RNF213_ENST00000319921.4_Silent_p.L692L|RNF213_ENST00000508628.2_Silent_p.L741L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	692										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)			ACACCTGGCTGGGCGCCCTGC	0.622000													7	32					0.00198382	0.00220122	0.248553	1	0
PCK1	5105	broad.mit.edu	37	20	56137929	56137929	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:56137929C>A	ENST00000319441.4	+	4	748	c.584C>A	c.(583-585)tCt>tAt	p.S195Y	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.S63Y	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	195					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGCCTCCATTCTGTGGGGTGC	0.512000													10	36					1.58986e-06	2.08044e-06	0.069234	1	0
ZNF488	118738	broad.mit.edu	37	10	48370539	48370539	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:48370539G>C	ENST00000395702.2	+	2	234	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	ZNF488_ENST00000494156.1_Missense_Mutation_p.E3Q|ZNF488_ENST00000586537.1_5'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						ATGAATGCCAGAGTGGCCACC	0.597000													17	85					0	0	0.175082	0	0
PRDM13	59336	broad.mit.edu	37	6	100056667	100056667	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:100056667G>T	ENST00000369214.1	+	2	486	c.225G>T	c.(223-225)ctG>ctT	p.L75L	PRDM13_ENST00000369215.4_Silent_p.L65L	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	65	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GCTCCCCTCTGGAGTGGATAG	0.617000													5	21					0.000602214	0.000683184	0.184627	1	0
SH3BP4	23677	broad.mit.edu	37	2	235951092	235951092	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:235951092G>T	ENST00000409212.1	+	4	2186	c.1679G>T	c.(1678-1680)cGa>cTa	p.R560L	SH3BP4_ENST00000344528.4_Missense_Mutation_p.R560L|SH3BP4_ENST00000392011.2_Missense_Mutation_p.R560L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	560					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AAAGTGGTGCGAGGATTCCAG	0.557000													19	44					4.35082e-09	6.39594e-09	0.219247	1	0
BMS1	9790	broad.mit.edu	37	10	43325851	43325851	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:43325851G>T	ENST00000374518.4	+	22	3662	c.3599G>T	c.(3598-3600)cGc>cTc	p.R1200L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1200					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCCGTCATACGCGAGCCTCAT	0.517000													14	52					1.5842e-08	2.26314e-08	0.105934	1	0
ECEL1	9427	broad.mit.edu	37	2	233344908	233344908	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:233344908G>T	ENST00000304546.1	-	18	2493	c.2283C>A	c.(2281-2283)ccC>ccA	p.P761P	ECEL1_ENST00000409941.1_Silent_p.P759P	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	761					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTGAGTCCTTGGGACAGTGGA	0.652000													11	25					5.16669e-11	8.03266e-11	0.080935	1	0
CD1E	913	broad.mit.edu	37	1	158325615	158325615	+	Splice_Site	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:158325615A>G	ENST00000444681.2	+	3	621		c.e3-1		CD1E_ENST00000368160.3_Splice_Site|CD1E_ENST00000368155.3_Splice_Site|CD1E_ENST00000368154.1_Splice_Site|CD1E_ENST00000368157.1_Splice_Site|CD1E_ENST00000368161.3_Splice_Site|CD1E_ENST00000452291.2_Splice_Site|CD1E_ENST00000434258.1_Splice_Site|CD1E_ENST00000368156.1_Splice_Site|CD1E_ENST00000368165.3_Splice_Site|CD1E_ENST00000368167.3_Splice_Site|CD1E_ENST00000368164.3_Splice_Site|CD1E_ENST00000368163.3_Splice_Site|CD1E_ENST00000368166.3_Splice_Site	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule						antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCTTCTTCCTAGTGAAGCCAG	0.517000													4	52					0	0	0.150653	0	0
SERPINB5	5268	broad.mit.edu	37	18	61170715	61170715	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr18:61170715C>A	ENST00000382771.4	+	7	1180	c.888C>A	c.(886-888)atC>atA	p.I296I		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	296					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TGAAACATATCTTCAGTGAAG	0.418000													10	58					0.000673444	0.000762923	0.069234	1	0
GZMB	3002	broad.mit.edu	37	14	25101073	25101073	+	Silent	SNP	A	A	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:25101073A>C	ENST00000216341.4	-	4	697	c.591T>G	c.(589-591)acT>acG	p.T197T	RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Silent_p.T231T|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000415355.3_Silent_p.T185T|GZMB_ENST00000526004.1_3'UTR|GZMB_ENST00000382540.1_Silent_p.T152T			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	197	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CCTTAAAGGAAGTCTTTTTAA	0.473000													6	83					0	0	0.217242	0	0
WRAP73	49856	broad.mit.edu	37	1	3564093	3564093	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:3564093C>A	ENST00000378322.3	-	2	159	c.101G>T	c.(100-102)cGg>cTg	p.R34L	WRAP73_ENST00000270708.7_Missense_Mutation_p.R34L			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	34						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						GTTCACATCCCGGACCACTAA	0.532000													4	17					0.000602214	0.000683184	0.184627	1	0
NTRK3	4916	broad.mit.edu	37	15	88472601	88472601	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:88472601C>G	ENST00000394480.1	-	17	2275	c.1954G>C	c.(1954-1956)Ggg>Cgg	p.G652R	NTRK3_ENST00000355254.2_Missense_Mutation_p.G652R|NTRK3_ENST00000557856.1_Missense_Mutation_p.G644R|NTRK3_ENST00000542733.2_Missense_Mutation_p.G554R|NTRK3_ENST00000360948.2_Missense_Mutation_p.G652R|NTRK3_ENST00000357724.2_Missense_Mutation_p.G644R|NTRK3_ENST00000558676.1_Missense_Mutation_p.G644R	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	652	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGGAGAGCCCCAGCTCACCC	0.612000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			6	29					0	0	0.217242	0	0
MYH8	4626	broad.mit.edu	37	17	10323468	10323468	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:10323468C>T	ENST00000403437.2	-	3	171	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	26	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.R26P(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGCCTCAATCCGCTCCTTTTC	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	117					0	0	0.248553	0	0
KCNC2	3747	broad.mit.edu	37	12	75444698	75444698	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:75444698G>T	ENST00000549446.1	-	3	1767	c.1087C>A	c.(1087-1089)Cgc>Agc	p.R363S	KCNC2_ENST00000548513.1_Missense_Mutation_p.R363S|KCNC2_ENST00000298972.1_Missense_Mutation_p.R363S|KCNC2_ENST00000540018.1_Missense_Mutation_p.R363S|KCNC2_ENST00000350228.2_Missense_Mutation_p.R363S|KCNC2_ENST00000550433.1_Missense_Mutation_p.R363S|KCNC2_ENST00000341669.3_Missense_Mutation_p.R363S|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Missense_Mutation_p.R363S	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	363					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						ACAAAATGGCGGGTGAGCTTG	0.458000													3	24					0.115264	0.119544	0.115264	1	0
NRXN1	9378	broad.mit.edu	37	2	50765556	50765556	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:50765556C>A	ENST00000404971.1	-	11	3437	c.2098G>T	c.(2098-2100)Gct>Tct	p.A700S	NRXN1_ENST00000405472.3_Missense_Mutation_p.A652S|NRXN1_ENST00000401669.2_Missense_Mutation_p.A660S|NRXN1_ENST00000406859.3_Missense_Mutation_p.A660S|NRXN1_ENST00000402717.3_Missense_Mutation_p.A652S|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.A660S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	660	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.A701S(1)|p.A700S(1)|p.A660S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGAACTTCAGCCATTTGCCGG	0.507000													82	276					2.17451e-35	4.11532e-35	0.323286	1	0
HRNR	388697	broad.mit.edu	37	1	152191868	152191868	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:152191868G>C	ENST00000368801.2	-	3	2312	c.2237C>G	c.(2236-2238)tCa>tGa	p.S746*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	746					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACAAACCTGAGCTAGATCC	0.557000													49	157					0	0	0.323286	0	0
ITGA7	3679	broad.mit.edu	37	12	56092167	56092167	+	Splice_Site	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:56092167C>A	ENST00000257880.7	-	8	1543	c.1324_splice	c.e8+1	p.D442_splice	ITGA7_ENST00000394230.2_Splice_Site_p.D402_splice|ITGA7_ENST00000347027.6_Splice_Site_p.D398_splice|ITGA7_ENST00000555728.1_Splice_Site_p.D442_splice|ITGA7_ENST00000257879.6_Splice_Site_p.D398_splice|ITGA7_ENST00000553804.1_Splice_Site_p.D402_splice|ITGA7_ENST00000394229.2_Splice_Site_p.D398_splice|ITGA7_ENST00000452168.2_Splice_Site_p.D305_splice			Q13683	ITA7_HUMAN	integrin, alpha 7	442					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCGTCACACCTGGAAAGCCA	0.642000													6	20					0.00116845	0.00131268	0.217242	1	0
ZNF318	24149	broad.mit.edu	37	6	43306443	43306443	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:43306443G>A	ENST00000361428.2	-	10	5370	c.5293C>T	c.(5293-5295)Cgt>Tgt	p.R1765C	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1765					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCAGATTTACGGAGCTCTTGG	0.418000													4	132					0	0	0.150653	0	0
RNF130	55819	broad.mit.edu	37	5	179397486	179397486	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:179397486C>A	ENST00000522208.2	-	6	887	c.869G>T	c.(868-870)tGc>tTc	p.C290F	RNF130_ENST00000521389.1_Missense_Mutation_p.C290F|RNF130_ENST00000261947.4_Missense_Mutation_p.C290F			Q86XS8	GOLI_HUMAN	ring finger protein 130	290					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGATCCACGCAGGATTTGTG	0.358000													5	22					3.59834e-05	4.4363e-05	0.217242	1	0
ENTPD2	954	broad.mit.edu	37	9	139945771	139945771	+	Silent	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:139945771T>C	ENST00000355097.2	-	4	485	c.438A>G	c.(436-438)acA>acG	p.T146T	ENTPD2_ENST00000312665.5_Silent_p.T146T	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	146						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACTGGGTCAGTGTGTGAGTCA	0.587000													11	38					0	0	0.105934	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513335	89513335	+	RNA	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:89513335C>A	ENST00000498435.1	-	0	78																											TACCTGGGAGCCAGAGCAGCA	0.483000													16	53					1.56452e-12	2.52947e-12	0.189662	1	0
TP73	7161	broad.mit.edu	37	1	3599737	3599737	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:3599737C>G	ENST00000378295.4	+	3	334	c.179C>G	c.(178-180)tCt>tGt	p.S60C	TP73_ENST00000604074.1_Missense_Mutation_p.S60C|TP73_ENST00000357733.3_Missense_Mutation_p.S60C|TP73_ENST00000354437.4_Missense_Mutation_p.S60C|TP73_ENST00000346387.4_Missense_Mutation_p.S60C|TP73_ENST00000603362.1_Missense_Mutation_p.S60C|TP73_ENST00000604479.1_Missense_Mutation_p.S60C	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	60					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		ATGACTACATCTGTCATGGTG	0.582000													7	47					0	0	0.307466	0	0
CCDC180	100499483	broad.mit.edu	37	9	100082426	100082426	+	Silent	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:100082426T>C	ENST00000375202.2	+	25	2582	c.1230T>C	c.(1228-1230)agT>agC	p.S410S	CCDC180_ENST00000395220.1_Silent_p.S509S|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Silent_p.S407S|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Silent_p.S410S|CCDC180_ENST00000357054.1_Silent_p.S549S					coiled-coil domain containing 180																		TGCCCCCCAGTTACAGCAAAA	0.502000													5	152					0	0	0.217242	0	0
CASK	8573	broad.mit.edu	37	X	41519769	41519769	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:41519769G>C	ENST00000318588.9	-	8	799	c.754C>G	c.(754-756)Cta>Gta	p.L252V	CASK_ENST00000442742.2_Missense_Mutation_p.L252V|CASK_ENST00000361962.4_Missense_Mutation_p.L252V|CASK_ENST00000421587.2_Missense_Mutation_p.L252V|CASK_ENST00000378154.1_Missense_Mutation_p.L252V|CASK_ENST00000378158.1_Missense_Mutation_p.L252V|CASK_ENST00000378163.1_Missense_Mutation_p.L252V|CASK_ENST00000378166.4_Missense_Mutation_p.L252V			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	252	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CGACGTACTAGGTCTTTGGCA	0.443000													3	15					0	0	0.115264	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179538539	179538539	+	Silent	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:179538539G>C	ENST00000393371.2	-	11	1517	c.1221C>G	c.(1219-1221)acC>acG	p.T407T	RASGEF1C_ENST00000522500.1_Silent_p.T256T|RASGEF1C_ENST00000361132.4_Silent_p.T407T			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	407	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGTTTCCAGGTGATGAACT	0.582000													3	36					0	0	0.150653	0	0
MYH9	4627	broad.mit.edu	37	22	36708174	36708174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr22:36708174G>A	ENST00000216181.5	-	14	1878	c.1648C>T	c.(1648-1650)Cag>Tag	p.Q550*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	550	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGGTGCCCTGCTCCTGCATC	0.612000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	58					0	0	0.307466	0	0
CD1B	910	broad.mit.edu	37	1	158300743	158300743	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:158300743G>T	ENST00000368168.3	-	2	278	c.171C>A	c.(169-171)ggC>ggA	p.G57G		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	57					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CGCTATCCCAGCCATGAATCT	0.483000													59	338					5.73376e-24	1.04838e-23	0.323286	1	0
WDR17	116966	broad.mit.edu	37	4	177095826	177095826	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:177095826A>G	ENST00000393643.2	+	27	3703	c.3451A>G	c.(3451-3453)Aga>Gga	p.R1151G	WDR17_ENST00000280190.4_Missense_Mutation_p.R1175G|WDR17_ENST00000508596.1_Missense_Mutation_p.R1136G|WDR17_ENST00000507824.2_Missense_Mutation_p.R1150G	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1175										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGCTATCAGAAGACAGTACCA	0.338000													6	52					0	0	0.248553	0	0
GARS	2617	broad.mit.edu	37	7	30655527	30655527	+	Silent	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:30655527A>T	ENST00000389266.3	+	9	1288	c.1047A>T	c.(1045-1047)gcA>gcT	p.A349A		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	349	Substrate binding.				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCACAATGGCAGAAATTGAGC	0.388000													11	57					0	0	0.105934	0	0
PSMC4	5704	broad.mit.edu	37	19	40478061	40478061	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:40478061C>T	ENST00000157812.2	+	2	243	c.45C>T	c.(43-45)atC>atT	p.I15I	PSMC4_ENST00000455878.2_Silent_p.I15I	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	15					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGGATGAGATCCCAGCACTGT	0.552000													19	94					0	0	0.219247	0	0
ZNF430	80264	broad.mit.edu	37	19	21216262	21216262	+	Splice_Site	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:21216262G>T	ENST00000261560.5	+	3	278	c.96_splice	c.e3-1	p.G33_splice	ZNF430_ENST00000599548.1_Splice_Site_p.G33_splice|ZNF430_ENST00000595401.1_Splice_Site_p.G33_splice	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TGTTTTTCAGGGGCCATTGAC	0.398000													26	48					2.61193e-14	4.38935e-14	0.144211	1	0
CST1	1469	broad.mit.edu	37	20	23731387	23731387	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:23731387G>T	ENST00000304749.2	-	1	187	c.117C>A	c.(115-117)ctC>ctA	p.L39L	CST1_ENST00000398402.1_Silent_p.L39L	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	39						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					ACTCATCATTGAGGTCTGCGT	0.572000													16	33					0.00498961	0.00541042	0.160694	1	0
FHL1	2273	broad.mit.edu	37	X	135289240	135289240	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:135289240C>A	ENST00000543669.1	+	3	933	c.222C>A	c.(220-222)ccC>ccA	p.P74P	FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000535737.1_Silent_p.P74P|FHL1_ENST00000394153.2_Silent_p.P74P|FHL1_ENST00000394155.2_Silent_p.P74P|FHL1_ENST00000370676.3_Silent_p.P90P|FHL1_ENST00000370690.3_Silent_p.P74P|FHL1_ENST00000345434.3_Silent_p.P74P|FHL1_ENST00000539015.1_Silent_p.P103P|FHL1_ENST00000370683.1_Silent_p.P90P	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	74	LIM zinc-binding 1.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GCCTTCACCCCTTGGCCAATG	0.572000													22	48					7.41877e-09	1.07126e-08	0.234183	1	0
HOXA4	3201	broad.mit.edu	37	7	27169145	27169145	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:27169145G>T	ENST00000360046.5	-	2	727	c.662C>A	c.(661-663)gCc>gAc	p.A221D	HOXA-AS2_ENST00000521159.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.A221D|HOXA3_ENST00000467897.2_Intron	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	221						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CCGGGTGTAGGCGGTTCGAGA	0.587000													18	41					2.4624e-09	3.65301e-09	0.204396	1	0
DST	667	broad.mit.edu	37	6	56471269	56471269	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:56471269C>A	ENST00000370754.5	-	39	8057	c.8058G>T	c.(8056-8058)caG>caT	p.Q2686H	DST_ENST00000370769.4_Missense_Mutation_p.Q2508H|DST_ENST00000446842.2_Missense_Mutation_p.Q2182H|DST_ENST00000312431.6_Missense_Mutation_p.Q2508H|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.Q2508H|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2508					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)			TTTCCAGTGACTGTCCATTCA	0.368000													7	59					8.12818e-05	9.71066e-05	0.248553	1	0
ABHD17B	51104	broad.mit.edu	37	9	74489639	74489639	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:74489639A>T	ENST00000333421.6	-	2	469	c.358T>A	c.(358-360)Tgt>Agt	p.C120S	ABHD17B_ENST00000377041.2_Missense_Mutation_p.C120S	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B																		AATATATTACAATTAATCCGT	0.408000													7	59					0	0	0.248553	0	0
SCN9A	6335	broad.mit.edu	37	2	167151151	167151151	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:167151151C>G	ENST00000303354.6	-	8	1266	c.926G>C	c.(925-927)gGa>gCa	p.G309A	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.G308A|SCN9A_ENST00000409435.1_Missense_Mutation_p.G308A|SCN9A_ENST00000375387.4_Missense_Mutation_p.G309A			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	308				S -> P (in Ref. 3; AAT85834).		voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATCTTTGGATCCTTCCAAGTA	0.313000													8	10					0	0	0.069234	0	0
ASB17	127247	broad.mit.edu	37	1	76384715	76384715	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:76384715G>T	ENST00000284142.6	-	3	949	c.810C>A	c.(808-810)acC>acA	p.T270T		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	270	SOCS box.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GCATATTGTTGGTTAATAGTT	0.333000													10	39					6.40141e-05	7.71599e-05	0.080935	1	0
CARD6	84674	broad.mit.edu	37	5	40852903	40852903	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:40852903A>T	ENST00000254691.5	+	3	1668	c.1469A>T	c.(1468-1470)gAt>gTt	p.D490V	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	490					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTTCATCAAGATTTGCCTCTT	0.433000													32	69					0	0	0.144211	0	0
XIRP2	129446	broad.mit.edu	37	2	168102031	168102031	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:168102031G>T	ENST00000409195.1	+	9	4218	c.4129G>T	c.(4129-4131)Gaa>Taa	p.E1377*	XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E1377*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E1155*|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1202					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTCACACAAGAAGACATTCA	0.363000													5	55					0.000602214	0.000683184	0.184627	1	0
ABCA12	26154	broad.mit.edu	37	2	215884140	215884140	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:215884140A>T	ENST00000272895.7	-	13	1796	c.1577T>A	c.(1576-1578)tTg>tAg	p.L526*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.L208*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	526					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GATATTTTCCAAGTAATTCAT	0.368000													6	75					0	0	0.248553	0	0
FANCM	57697	broad.mit.edu	37	14	45605533	45605533	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:45605533G>T	ENST00000267430.5	+	1	384	c.299G>T	c.(298-300)cGg>cTg	p.R100L	FANCM_ENST00000542564.2_Missense_Mutation_p.R100L|FANCM_ENST00000556036.1_Missense_Mutation_p.R100L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	100	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CACATTTCCCGGGCTGCTCTG	0.562000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	52					3.07112e-06	3.96747e-06	0.080935	1	0
CSMD3	114788	broad.mit.edu	37	8	114389076	114389076	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:114389076C>A	ENST00000343508.3	-	0	119				CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000297405.5_Intron|CSMD3_ENST00000352409.3_Intron	NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							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						AACCGGCCACCTCTGCCCCTT	0.542000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	53					0.014758	0.0156261	0.184627	1	0
ZC3H11A	9877	broad.mit.edu	37	1	203819698	203819698	+	Silent	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:203819698A>G	ENST00000545588.1	+	15	5822	c.1995A>G	c.(1993-1995)aaA>aaG	p.K665K	ZC3H11A_ENST00000367210.1_Silent_p.K665K|ZC3H11A_ENST00000367212.3_Silent_p.K665K|ZC3H11A_ENST00000332127.4_Silent_p.K665K|ZC3H11A_ENST00000367214.1_Silent_p.K665K	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	665							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CATCCCCCAAATTGGCCCCAA	0.493000													16	85					0	0	0.132662	0	0
AOAH	313	broad.mit.edu	37	7	36561649	36561649	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:36561649T>A	ENST00000431169.1	-	20	1895	c.1595A>T	c.(1594-1596)aAc>aTc	p.N532I	AOAH_ENST00000258749.5_Missense_Mutation_p.N532I|AOAH_ENST00000535891.1_Missense_Mutation_p.N500I|AOAH_ENST00000538464.1_Missense_Mutation_p.N254I	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	532					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GCTTACCTCGTTGGGGTGGAA	0.478000													17	27					0	0	0.160694	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140869287	140869287	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:140869287G>A	ENST00000252087.1	+	1	480	c.480G>A	c.(478-480)ccG>ccA	p.P160P	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		160	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGGATCCGGATGTGGGCA	0.532000													4	44					0	0	0.184627	0	0
SIRT7	51547	broad.mit.edu	37	17	79873370	79873370	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:79873370C>T	ENST00000328666.6	-	5	488	c.426G>A	c.(424-426)gaG>gaA	p.E142E		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	142	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TTGGCTCGGCCTCGCTCAGGT	0.642000													4	21					0	0	0.150653	0	0
IKBKB	3551	broad.mit.edu	37	8	42162703	42162703	+	Splice_Site	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:42162703A>T	ENST00000520810.1	+	6	574		c.e6-1		IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CCTCTTCCTCAGCCTCTGCGC	0.453000													5	28					0	0	0.184627	0	0
YTHDC1	91746	broad.mit.edu	37	4	69179973	69179973	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:69179973A>T	ENST00000344157.4	-	17	2363	c.2028T>A	c.(2026-2028)agT>agA	p.S676R	YTHDC1_ENST00000355665.3_Missense_Mutation_p.S658R|YTHDC1_ENST00000579690.1_Missense_Mutation_p.S684R	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	676	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						cACGGGGTCTACTTCTCCGGC	0.483000													3	13					0	0	0.150653	0	0
PKP2	5318	broad.mit.edu	37	12	32974458	32974458	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:32974458G>C	ENST00000340811.4	-	9	1953	c.1845C>G	c.(1843-1845)taC>taG	p.Y615*	PKP2_ENST00000070846.6_Nonsense_Mutation_p.Y659*	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	659			S -> F (in ARVD9).		cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCACGTCCTGGTATTGCTGAC	0.463000													5	48					0	0	0.217242	0	0
NAV2	89797	broad.mit.edu	37	11	20070532	20070532	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:20070532C>T	ENST00000396085.1	+	15	4522	c.4161C>T	c.(4159-4161)aaC>aaT	p.N1387N	NAV2_ENST00000360655.4_Silent_p.N1323N|NAV2_ENST00000349880.4_Silent_p.N1387N|NAV2_ENST00000527559.2_Silent_p.N1339N|NAV2_ENST00000311043.8_Silent_p.N473N|NAV2_ENST00000540292.1_Silent_p.N1341N|NAV2_ENST00000533917.1_Silent_p.N473N|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000396087.3_Silent_p.N1410N	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1410	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GGGGCACCAACGCCAGCAGCT	0.612000													12	81					0	0	0.080935	0	0
CNNM1	26507	broad.mit.edu	37	10	101122151	101122151	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:101122151C>T	ENST00000356713.4	+	4	2315	c.2026C>T	c.(2026-2028)Cag>Tag	p.Q676*	CNNM1_ENST00000370528.3_Nonsense_Mutation_p.Q605*|CNNM1_ENST00000370534.4_Nonsense_Mutation_p.Q311*|CNNM1_ENST00000446890.1_Nonsense_Mutation_p.Q605*	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	676					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GCTGCTTCTACAGGTGAGTAG	0.542000													5	27					0	0	0.184627	0	0
PDE5A	8654	broad.mit.edu	37	4	120419774	120419774	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:120419774G>T	ENST00000354960.3	-	21	2929	c.2610C>A	c.(2608-2610)ggC>ggA	p.G870G	PDE5A_ENST00000394439.1_Silent_p.G818G|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Silent_p.G828G	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	870					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GCTTGGCCTGGCCGCTTTCCC	0.478000													18	56					5.01169e-05	6.11366e-05	0.160694	1	0
STON1	11037	broad.mit.edu	37	2	48809304	48809304	+	Missense_Mutation	SNP	G	G	A	rs150265234		TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:48809304G>A	ENST00000309835.3	+	1	1542	c.1532G>A	c.(1531-1533)cGg>cAg	p.R511Q	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R511Q|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.R511Q|STON1_ENST00000404752.1_Missense_Mutation_p.R511Q|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R511Q|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R511Q|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R511Q|STON1_ENST00000406226.1_Missense_Mutation_p.R511Q					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GATGCCTGCCGGTTTGAGCTG	0.408000													8	109					0	0	0.278610	0	0
OR2T6	254879	broad.mit.edu	37	1	248551394	248551394	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:248551394T>C	ENST00000355728.2	+	1	485	c.485T>C	c.(484-486)aTt>aCt	p.I162T		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCACCCCCATTACCATGAGT	0.557000													9	28					0	0	0.307466	0	0
ERMARD	55780	broad.mit.edu	37	6	170155445	170155445	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:170155445A>T	ENST00000366773.3	+	3	275	c.242A>T	c.(241-243)cAt>cTt	p.H81L	C6orf70_ENST00000366772.2_Missense_Mutation_p.H81L|C6orf70_ENST00000418781.3_Missense_Mutation_p.H81L|C6orf70_ENST00000588451.1_5'UTR|C6orf70_ENST00000392095.4_5'UTR	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	CF070_HUMAN		81						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		GTCCATTCACATTTCTTATCT	0.453000													25	50					0	0	0.338820	0	0
CNTN5	53942	broad.mit.edu	37	11	99942542	99942542	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:99942542G>T	ENST00000524871.1	+	12	1695	c.1405G>T	c.(1405-1407)Gct>Tct	p.A469S	CNTN5_ENST00000528682.1_Missense_Mutation_p.A469S|CNTN5_ENST00000527185.1_Missense_Mutation_p.A469S|CNTN5_ENST00000418526.2_Missense_Mutation_p.A395S|CNTN5_ENST00000279463.3_Missense_Mutation_p.A469S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	469	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCCATTTACGCTAGTGCTGA	0.348000													3	14					0.004672	0.00507282	0.115264	1	0
DRD3	1814	broad.mit.edu	37	3	113850048	113850048	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:113850048G>A	ENST00000383673.2	-	6	1353	c.923C>T	c.(922-924)aCa>aTa	p.T308I	DRD3_ENST00000467632.1_Missense_Mutation_p.T308I|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000460779.1_Missense_Mutation_p.T308I	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	308					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CTTCAAAGATGTCGATAATCT	0.522000													24	137					0	0	0.279207	0	0
HFE	3077	broad.mit.edu	37	6	26091585	26091585	+	Missense_Mutation	SNP	A	A	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:26091585A>C	ENST00000357618.5	+	3	506	c.384A>C	c.(382-384)gaA>gaC	p.E128D	HFE_ENST00000397022.3_Missense_Mutation_p.E105D|HFE_ENST00000461397.1_Missense_Mutation_p.E128D|HFE_ENST00000488199.1_Missense_Mutation_p.E40D|HFE_ENST00000353147.5_Intron|HFE_ENST00000336625.8_Intron|HFE_ENST00000470149.1_Missense_Mutation_p.E128D|HFE_ENST00000309234.6_Missense_Mutation_p.E128D|HFE_ENST00000349999.4_Missense_Mutation_p.E40D|HFE_ENST00000352392.4_Intron|HFE_ENST00000317896.7_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	128	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAATGCAAGAAGACAACAGTA	0.527000									Hemochromatosis				4	60					0	0	0.150653	0	0
BHLHE40	8553	broad.mit.edu	37	3	5025131	5025131	+	Silent	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:5025131A>T	ENST00000256495.3	+	5	1596	c.993A>T	c.(991-993)tcA>tcT	p.S331S		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	331						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						TCCCACCTTCAGCGACTGCCT	0.602000													14	54					0	0	0.119110	0	0
XYLT1	64131	broad.mit.edu	37	16	17292209	17292209	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:17292209G>T	ENST00000261381.6	-	5	1233	c.1149C>A	c.(1147-1149)gtC>gtA	p.V383V		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	383					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCAGGGGGTGACGCGGACAT	0.607000													5	31					0.0215528	0.0227019	0.217242	1	0
KRT5	3852	broad.mit.edu	37	12	52912730	52912730	+	Splice_Site	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:52912730T>A	ENST00000252242.4	-	2	1160	c.770_splice	c.e2+1	p.K257_splice		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	257	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCAACTCACTTGTTCTTGAA	0.567000													17	111					0	0	0.160694	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558551	113558551	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:113558551C>G	ENST00000284601.3	-	1	569	c.501G>C	c.(499-501)caG>caC	p.Q167H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	167	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CATAATGTGTCTGCCAGTCAT	0.343000													13	46					0	0	0.119110	0	0
NLRP13	126204	broad.mit.edu	37	19	56435333	56435333	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:56435333G>A	ENST00000588751.1	-	4	494	c.470C>T	c.(469-471)gCc>gTc	p.A157V	NLRP13_ENST00000342929.3_Missense_Mutation_p.A157V			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	157							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCATCCCTGGGCCTGTACATT	0.428000													16	59					0	0	0.175082	0	0
TMCC3	57458	broad.mit.edu	37	12	94976065	94976065	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:94976065G>T	ENST00000261226.4	-	2	459	c.328C>A	c.(328-330)Cgt>Agt	p.R110S	TMCC3_ENST00000551457.1_Missense_Mutation_p.R79S	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	110						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TGCTTGATACGTCCCGCCTGC	0.458000													24	52					9.57634e-11	1.48314e-10	0.279207	1	0
SLC22A7	10864	broad.mit.edu	37	6	43267366	43267366	+	Splice_Site	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:43267366T>A	ENST00000372585.5	+	4	600	c.503_splice	c.e4-1	p.F169_splice	SLC22A7_ENST00000372574.3_Splice_Site_p.F167_splice|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Splice_Site_p.F167_splice	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	169						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CCTTTGCAGGTTTGGGCGGCG	0.582000													28	303					0	0	0.153744	0	0
FLG	2312	broad.mit.edu	37	1	152281950	152281950	+	Silent	SNP	T	T	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:152281950T>G	ENST00000368799.1	-	3	5447	c.5412A>C	c.(5410-5412)tcA>tcC	p.S1804S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1804	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGGGACGCTGAGTGCCTGG	0.592000									Ichthyosis				29	496					0	0	0.338820	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394429	39394429	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:39394429C>T	ENST00000254072.6	+	1	133	c.126C>T	c.(124-126)tgC>tgT	p.C42C		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	42	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGTCCAGCTGCTGCCAGCCTT	0.637000													13	43					0	0	0.093190	0	0
HDX	139324	broad.mit.edu	37	X	83724066	83724066	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:83724066A>G	ENST00000297977.5	-	3	776	c.665T>C	c.(664-666)aTt>aCt	p.I222T	HDX_ENST00000373177.2_Missense_Mutation_p.I222T|HDX_ENST00000506585.2_Missense_Mutation_p.I164T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AACTGGTTCAATTTTACAAGG	0.413000													19	60					0	0	0.219247	0	0
SLC43A1	8501	broad.mit.edu	37	11	57261522	57261522	+	Missense_Mutation	SNP	G	G	A	rs141990229	byFrequency	TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:57261522G>A	ENST00000278426.3	-	8	1170	c.815C>T	c.(814-816)tCg>tTg	p.S272L	SLC43A1_ENST00000528450.1_Missense_Mutation_p.S272L|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	272					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GAAGGCATCCGAACCGTCCTC	0.602000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	21					0	0	0.080935	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692093	31692093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr21:31692093G>T	ENST00000360542.3	-	1	514	c.261C>A	c.(259-261)taC>taA	p.Y87*		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	87						intermediate filament		p.Y87Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GCCTGGGCACGTAGTAAGCAG	0.542000													39	75					6.70999e-13	1.09358e-12	0.203993	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140784118	140784118	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:140784118G>A	ENST00000573521.1	+	1	1599	c.1599G>A	c.(1597-1599)acG>acA	p.T533T	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGACGGCAAGTGACA	0.478000													23	19					0	0	0.249174	0	0
GLG1	2734	broad.mit.edu	37	16	74526856	74526856	+	Splice_Site	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:74526856T>C	ENST00000422840.2	-	7	1232	c.1234_splice	c.e7+1	p.R411_splice	GLG1_ENST00000205061.5_Splice_Site_p.R411_splice|GLG1_ENST00000447066.2_Splice_Site_p.R400_splice	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	411						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GAATGCTACCTCTGTGTACAG	0.388000													3	27					0	0	0.150653	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260416	44260416	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr18:44260416C>A	ENST00000315087.7	-	7	1380	c.720G>T	c.(718-720)gaG>gaT	p.E240D	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E276D|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.E209D	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	240					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCGACGCGTTCTCGTACACCT	0.622000													7	11					0.00198382	0.00220122	0.248553	1	0
OR5AR1	219493	broad.mit.edu	37	11	56432009	56432009	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:56432009C>A	ENST00000302969.2	+	1	872	c.848C>A	c.(847-849)cCc>cAc	p.P283H		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GTTATCATCCCCATGTTAAAT	0.413000													14	36					4.3838e-07	5.88869e-07	0.105934	1	0
LCA5	167691	broad.mit.edu	37	6	80197179	80197179	+	Missense_Mutation	SNP	C	C	A	rs35415141		TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:80197179C>A	ENST00000392959.1	-	9	2247	c.1636G>T	c.(1636-1638)Gcc>Tcc	p.A546S	LCA5_ENST00000369846.4_Missense_Mutation_p.A546S	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	546			A -> P (in dbSNP:rs35415141).		protein transport	cilium axoneme|microtubule basal body	protein binding	p.A546T(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTAGGGGAGGCTGGACTTCTA	0.388000													40	83					2.40579e-17	4.19977e-17	0.235728	1	0
FST	10468	broad.mit.edu	37	5	52779975	52779975	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:52779975C>T	ENST00000396947.3	+	4	739	c.573C>T	c.(571-573)acC>acT	p.T191T	FST_ENST00000256759.3_Silent_p.T191T	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	191	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				ACTGTGTGACCTGTAATCGGA	0.507000													5	75					0	0	0.184627	0	0
TRIM51	84767	broad.mit.edu	37	11	55658995	55658995	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:55658995G>C	ENST00000449290.2	+	7	1338	c.1246G>C	c.(1246-1248)Gaa>Caa	p.E416Q	TRIM51_ENST00000244891.3_Missense_Mutation_p.E273Q	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	416	B30.2/SPRY.					intracellular	zinc ion binding										CCTGGATTGTGAAGGTAGAAC	0.468000													12	60					0	0	0.080935	0	0
OVCH1	341350	broad.mit.edu	37	12	29614865	29614865	+	Silent	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:29614865A>G	ENST00000318184.5	-	19	2201	c.2202T>C	c.(2200-2202)taT>taC	p.Y734Y	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	734	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GATGGGCAGAATAGTAAGTGT	0.453000													7	129					0	0	0.248553	0	0
FOXL1	2300	broad.mit.edu	37	16	86612497	86612497	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:86612497G>A	ENST00000320241.3	+	1	383	c.168G>A	c.(166-168)gcG>gcA	p.A56A		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	56					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						GCTACATCGCGCTCATCGCCA	0.672000													9	41					0	0	0.069234	0	0
MAP2	4133	broad.mit.edu	37	2	210543380	210543380	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:210543380A>G	ENST00000360351.4	+	5	853	c.347A>G	c.(346-348)cAt>cGt	p.H116R	MAP2_ENST00000361559.4_Missense_Mutation_p.H116R|MAP2_ENST00000447185.1_Missense_Mutation_p.H116R|MAP2_ENST00000392194.1_Missense_Mutation_p.H116R|MAP2_ENST00000199940.6_Missense_Mutation_p.H116R	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	116					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GAAGCTCAACATAAAGACCAG	0.438000													5	32					0	0	0.217242	0	0
C16orf70	80262	broad.mit.edu	37	16	67179530	67179530	+	Splice_Site	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:67179530A>T	ENST00000219139.3	+	14	1296	c.1109_splice	c.e14+1	p.R370_splice	C16orf70_ENST00000569600.1_Splice_Site_p.R370_splice	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	370										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TGTCCTGCACAGGTGAGTGGG	0.572000													12	36					0	0	0.080935	0	0
CNTN6	27255	broad.mit.edu	37	3	1367631	1367631	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:1367631C>T	ENST00000446702.2	+	9	1706	c.1079C>T	c.(1078-1080)cCa>cTa	p.P360L	CNTN6_ENST00000350110.2_Missense_Mutation_p.P360L|CNTN6_ENST00000539053.1_Missense_Mutation_p.P288L			Q9UQ52	CNTN6_HUMAN	contactin 6	360	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CGACTCAACCCAGAGGTAAGC	0.358000													7	37					0	0	0.248553	0	0
KCNA3	3738	broad.mit.edu	37	1	111216190	111216190	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:111216190G>A	ENST00000369769.2	-	1	1465	c.1242C>T	c.(1240-1242)agC>agT	p.S414S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	414						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTAGACCGCGCTGGAGAAAA	0.572000													9	36					0	0	0.307466	0	0
ZBTB11	27107	broad.mit.edu	37	3	101390880	101390880	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:101390880G>A	ENST00000312938.4	-	2	1068	c.488C>T	c.(487-489)cCa>cTa	p.P163L	ZBTB11_ENST00000461821.1_Missense_Mutation_p.P163L	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGCTGTAGTTGGAGATGAAGT	0.393000													7	75					0	0	0.278610	0	0
XIST	7503	broad.mit.edu	37	X	73067089	73067089	+	RNA	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:73067089A>T	ENST00000429829.1	-	0	5499					NR_001564.2																						GGAGCAAGGAAGCGGGATTCT	0.413000													7	8					0	0	0.278610	0	0
ERN2	10595	broad.mit.edu	37	16	23713533	23713533	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:23713533C>A	ENST00000256797.4	-	11	1455	c.1287G>T	c.(1285-1287)ggG>ggT	p.G429G	ERN2_ENST00000457008.2_Silent_p.G381G	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	381					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CAGTTCCACTCCCCAGGGTGG	0.622000													27	79					2.50493e-22	4.55954e-22	0.309145	1	0
SLC17A3	10786	broad.mit.edu	37	6	25850732	25850732	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:25850732G>C	ENST00000397060.4	-	8	1057	c.948C>G	c.(946-948)taC>taG	p.Y316*	SLC17A3_ENST00000361703.6_Nonsense_Mutation_p.Y238*|SLC17A3_ENST00000360657.3_Nonsense_Mutation_p.Y238*	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	238					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						AAGTTGGTATGTATACAACCA	0.433000													4	67					0	0	0.150653	0	0
MMP10	4319	broad.mit.edu	37	11	102649993	102649993	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:102649993G>T	ENST00000279441.4	-	3	483	c.447C>A	c.(445-447)tcC>tcA	p.S149S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	149					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CATACAGCCTGGAGAATGTGA	0.408000													34	133					1.60099e-16	2.77094e-16	0.214465	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68131673	68131673	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:68131673T>G	ENST00000262215.3	-	30	4720	c.4331A>C	c.(4330-4332)cAg>cCg	p.Q1444P	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.Q282P|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q898P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1444					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TACCTCTGTCTGTTGTTCTGG	0.303000													12	23					0	0	0.105934	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30863316	30863316	+	Silent	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:30863316A>T	ENST00000251071.5	-	18	3654	c.2904T>A	c.(2902-2904)cgT>cgA	p.R968R	CAPRIN2_ENST00000417045.1_3'UTR|CAPRIN2_ENST00000298892.5_Silent_p.R918R|CAPRIN2_ENST00000308433.5_Silent_p.R634R|CAPRIN2_ENST00000395805.2_3'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	968					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGGTCATGCTACGGGAGTCTC	0.522000													137	253					0	0	0.323286	0	0
OR6C75	390323	broad.mit.edu	37	12	55759166	55759166	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:55759166C>A	ENST00000343399.3	+	1	272	c.272C>A	c.(271-273)tCt>tAt	p.S91Y		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGAACCATTTCTTATAATGGG	0.438000													19	190					7.33628e-21	1.32347e-20	0.249174	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27998072	27998072	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:27998072C>A	ENST00000441525.1	-	1	1494	c.1380G>T	c.(1378-1380)ggG>ggT	p.G460G		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	460										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						AGAAGACGTGCCCACAATCAC	0.458000													6	13					0.0215528	0.0227019	0.217242	1	0
LMX1A	4009	broad.mit.edu	37	1	165324756	165324756	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:165324756G>T	ENST00000342310.3	-	2	423	c.41C>A	c.(40-42)gCg>gAg	p.A14E	LMX1A_ENST00000294816.2_Missense_Mutation_p.A14E|LMX1A_ENST00000367893.4_Missense_Mutation_p.A14E	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	14						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)					GGTGTCGATCGCGCTTTGGAA	0.632000													4	33					0.150653	0.154663	0.150653	1	0
DLC1	10395	broad.mit.edu	37	8	12943439	12943439	+	Splice_Site	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:12943439C>G	ENST00000276297.4	-	18	4877	c.4466_splice	c.e18-1	p.G1490_splice	DLC1_ENST00000358919.2_Splice_Site_p.G1053_splice|DLC1_ENST00000520226.1_Splice_Site_p.G979_splice|DLC1_ENST00000512044.2_Splice_Site_p.G1087_splice|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1490	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGCATGTGGCCCCTATCAGAG	0.363000													8	30					0	0	0.278610	0	0
OPN4	94233	broad.mit.edu	37	10	88419107	88419107	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:88419107T>A	ENST00000372071.2	+	6	942	c.715T>A	c.(715-717)Ttc>Atc	p.F239I	OPN4_ENST00000241891.5_Missense_Mutation_p.F228I	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	228					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTACATGAGCTTCACGCCGGC	0.602000													11	75					0	0	0.119110	0	0
EARS2	124454	broad.mit.edu	37	16	23540889	23540889	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:23540889G>A	ENST00000449606.1	-	7	1317	c.1286C>T	c.(1285-1287)gCa>gTa	p.A429V	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000563232.1_Missense_Mutation_p.A429V|EARS2_ENST00000563459.1_Missense_Mutation_p.A429V|EARS2_ENST00000564501.1_Missense_Mutation_p.A429V	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	429					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TCGACCTACTGCAGGGCGAGT	0.587000													6	42					0	0	0.248553	0	0
NAE1	8883	broad.mit.edu	37	16	66842457	66842457	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:66842457C>G	ENST00000379463.2	-	18	1471	c.1279G>C	c.(1279-1281)Gat>Cat	p.D427H	NAE1_ENST00000394074.2_Missense_Mutation_p.D344H|NAE1_ENST00000359087.4_Missense_Mutation_p.D436H|NAE1_ENST00000290810.3_Missense_Mutation_p.D433H	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	433					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TGAAATCTATCAACAGCCCGT	0.289000													10	111					0	0	0.069234	0	0
HECTD1	25831	broad.mit.edu	37	14	31570180	31570180	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:31570180G>A	ENST00000399332.1	-	43	8277	c.7789C>T	c.(7789-7791)Cgc>Tgc	p.R2597C	HECTD1_ENST00000553700.1_Missense_Mutation_p.R2597C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2597	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCTAGCAGGCGCTCTCTCATG	0.423000													7	69					0	0	0.248553	0	0
ESD	2098	broad.mit.edu	37	13	47354121	47354121	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:47354121C>G	ENST00000378720.3	-	8	731	c.549G>C	c.(547-549)tgG>tgC	p.W183C	ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Missense_Mutation_p.W154C	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	183						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CTTTTTTGCCCCAGGGACAGA	0.343000													28	47					0	0	0.338820	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729175	66729175	+	Missense_Mutation	SNP	G	G	T	rs121908596		TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:66729175G>T	ENST00000307102.5	+	3	914	c.383G>T	c.(382-384)gGc>gTc	p.G128V		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	128	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TACATCGTGGGCTTCTATGGT	0.507000													13	49					1.05317e-09	1.57684e-09	0.119110	1	0
RFPL2	10739	broad.mit.edu	37	22	32586793	32586793	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr22:32586793G>T	ENST00000400236.3	-	5	2038	c.833C>A	c.(832-834)aCt>aAt	p.T278N	RFPL2_ENST00000400237.1_Missense_Mutation_p.T368N|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.T307N|RFPL2_ENST00000248983.4_Missense_Mutation_p.T278N	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	368	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGGAGCATCAGTAGTGCCTGA	0.483000													36	67					1.17962e-10	1.82346e-10	0.268233	1	0
ASNS	440	broad.mit.edu	37	7	97481671	97481671	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:97481671C>A	ENST00000175506.4	-	14	2114	c.1586G>T	c.(1585-1587)cGg>cTg	p.R529L	ASNS_ENST00000394308.3_Missense_Mutation_p.R529L|ASNS_ENST00000455086.1_Missense_Mutation_p.R446L|ASNS_ENST00000444334.1_Missense_Mutation_p.R508L|ASNS_ENST00000437628.1_Missense_Mutation_p.R446L|ASNS_ENST00000394309.3_Missense_Mutation_p.R529L|ASNS_ENST00000422745.1_Missense_Mutation_p.R508L	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	529	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAGTCAGCCCGGCCTGGGTA	0.502000													36	72					1.58521e-26	2.95856e-26	0.225048	1	0
LENG8	114823	broad.mit.edu	37	19	54969154	54969154	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:54969154G>T	ENST00000326764.5	+	13	2354	c.1875G>T	c.(1873-1875)gaG>gaT	p.E625D	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	588							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGGTGTACGAGACCCATGCCC	0.667000													9	42					0.00621372	0.00671081	0.335167	1	0
MUC16	94025	broad.mit.edu	37	19	9084779	9084779	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:9084779C>G	ENST00000397910.4	-	1	7239	c.7036G>C	c.(7036-7038)Gaa>Caa	p.E2346Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2346	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						ACTGTAGTTTCATTATCCAGT	0.463000													7	10					0	0	0.278610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110455958	110455958	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:110455958G>T	ENST00000378402.5	+	37	4722	c.4618G>T	c.(4618-4620)Gaa>Taa	p.E1540*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1540					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTAGCAACAGAACCCCTGTG	0.413000										HNSCC(38;0.096)			14	19					0.000151284	0.000178891	0.105934	1	0
TIAM2	26230	broad.mit.edu	37	6	155569292	155569292	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:155569292G>C	ENST00000461783.3	+	22	5084	c.3811G>C	c.(3811-3813)Gag>Cag	p.E1271Q	TIAM2_ENST00000529824.2_Missense_Mutation_p.E1271Q|TIAM2_ENST00000456877.2_Missense_Mutation_p.E583Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.E1295Q|TIAM2_ENST00000275246.7_Missense_Mutation_p.E196Q|TIAM2_ENST00000367174.2_Missense_Mutation_p.E647Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.E1271Q|TIAM2_ENST00000528391.2_Missense_Mutation_p.E607Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.E1271Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1271	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCAGGAGAGCGAGGAGCACTA	0.682000											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	19					0	0	0.184627	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540490	40540490	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:40540490C>A	ENST00000434248.1	-	5	2341	c.2276G>T	c.(2275-2277)gGg>gTg	p.G759V	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G611V	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	759					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAGGCCTTCCCACACTCCTT	0.428000													33	69					3.90053e-15	6.65143e-15	0.163468	1	0
HBA2	3040	broad.mit.edu	37	16	223544	223544	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:223544C>T	ENST00000251595.6	+	3	440	c.374C>T	c.(373-375)tCc>tTc	p.S125F	HBA2_ENST00000397806.1_Missense_Mutation_p.S93F	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	125					hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	GTGCACGCCTCCCTGGACAAG	0.652000											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	26					0	0	0.217242	0	0
MAGI1	9223	broad.mit.edu	37	3	66023765	66023765	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:66023765C>A	ENST00000330909.8	-	1	218	c.219G>T	c.(217-219)gtG>gtT	p.V73V	MAGI1_ENST00000402939.2_Silent_p.V73V|MAGI1_ENST00000497477.2_Silent_p.V73V|MAGI1_ENST00000483466.1_Silent_p.V73V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	73	PDZ 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGACCCCCTGCACCTCCAGAA	0.697000													19	54					1.00905e-13	1.67829e-13	0.204396	1	0
PZP	5858	broad.mit.edu	37	12	9316324	9316324	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:9316324C>T	ENST00000261336.2	-	21	2704	c.2676G>A	c.(2674-2676)gaG>gaA	p.E892E	PZP_ENST00000381997.2_Intron|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCTCAACAACCTCATTTCCAC	0.408000													7	42					0	0	0.278610	0	0
CDH12	1010	broad.mit.edu	37	5	21752206	21752206	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:21752206G>C	ENST00000382254.1	-	15	3111	c.2025C>G	c.(2023-2025)atC>atG	p.I675M	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.I675M|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.I635M	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	675					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						TCAGAGCCCCGATGTCGAAAG	0.468000										HNSCC(59;0.17)			14	81					0	0	0.132662	0	0
C12orf42	374470	broad.mit.edu	37	12	103700025	103700025	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:103700025C>A	ENST00000548048.1	-	8	653	c.157G>T	c.(157-159)Gat>Tat	p.D53Y	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000378113.2_Missense_Mutation_p.D120Y|C12orf42_ENST00000548883.1_Missense_Mutation_p.D120Y|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	120										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CTTTCTTCATCAAAAGAAACT	0.428000													6	18					3.59834e-05	4.4363e-05	0.217242	1	0
C2orf71	388939	broad.mit.edu	37	2	29295578	29295578	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:29295578G>C	ENST00000331664.5	-	1	1549	c.1550C>G	c.(1549-1551)tCa>tGa	p.S517*		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	517					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GTCAGCAGGTGAAGATTGTGG	0.542000													14	105					0	0	0.146539	0	0
CR1L	1379	broad.mit.edu	37	1	207890991	207890991	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:207890991G>C	ENST00000508064.2	+	11	1657	c.1597G>C	c.(1597-1599)Gtt>Ctt	p.V533L		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	533	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGGAATGGGGTTTGGAGCAG	0.532000													4	122					0	0	0.150653	0	0
MUC16	94025	broad.mit.edu	37	19	9088216	9088216	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:9088216G>T	ENST00000397910.4	-	1	3802	c.3599C>A	c.(3598-3600)tCc>tAc	p.S1200Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1200	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						TGGTGTCAAGGAAGTCGTGGA	0.468000													45	84					1.03325e-14	1.7436e-14	0.301197	1	0
TRDN	10345	broad.mit.edu	37	6	123709674	123709674	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:123709674C>G	ENST00000334268.4	-	14	1445	c.1128G>C	c.(1126-1128)aaG>aaC	p.K376N	TRDN_ENST00000398178.3_Missense_Mutation_p.K376N			Q13061	TRDN_HUMAN	triadin	376					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TACCTTCCTTCTTTTCATCCT	0.378000													2	5					0	0	0.115264	0	0
VIT	5212	broad.mit.edu	37	2	37028519	37028519	+	Silent	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:37028519T>A	ENST00000379242.3	+	13	1436	c.1134T>A	c.(1132-1134)atT>atA	p.I378I	VIT_ENST00000404084.1_Silent_p.I315I|VIT_ENST00000497382.1_Silent_p.I32I|VIT_ENST00000389975.3_Silent_p.I363I|VIT_ENST00000379241.3_Silent_p.I341I|VIT_ENST00000401530.1_Silent_p.I342I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	363	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TAGAGAAAATTACTCAGAGAG	0.398000													16	122					0	0	0.146539	0	0
CDH6	1004	broad.mit.edu	37	5	31294306	31294306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:31294306G>T	ENST00000265071.2	+	3	731	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	CDH6_ENST00000514738.1_Nonsense_Mutation_p.E101*	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	156	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAATGACAATGAACCAATATT	0.478000													17	189					4.14922e-12	6.62893e-12	0.146539	1	0
TMEM132D	121256	broad.mit.edu	37	12	129566484	129566484	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:129566484C>A	ENST00000422113.2	-	7	2069	c.1743G>T	c.(1741-1743)acG>acT	p.T581T	TMEM132D_ENST00000389441.4_Silent_p.T119T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	581						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCACAAACTGCGTCAGGACCC	0.647000													3	64					0.00024832	0.000288993	0.150653	1	0
KIAA1551	55196	broad.mit.edu	37	12	32134971	32134971	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:32134971T>C	ENST00000312561.4	+	4	1496	c.1082T>C	c.(1081-1083)gTt>gCt	p.V361A	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		GTGGATGGTGTTCAGACTCTT	0.353000													4	95					0	0	0.184627	0	0
AADACL2	344752	broad.mit.edu	37	3	151458561	151458561	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:151458561T>C	ENST00000356517.3	+	2	375	c.266T>C	c.(265-267)aTt>aCt	p.I89T		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	89						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTTGTTGACATTCCAGTACGA	0.378000													3	66					0	0	0.150653	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43969890	43969890	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:43969890G>T	ENST00000282406.4	+	22	3342	c.3232G>T	c.(3232-3234)Gga>Tga	p.G1078*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1078	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACAGAATTTGGAAAATATGC	0.343000													4	24					0.0215528	0.0227019	0.217242	1	0
KERA	11081	broad.mit.edu	37	12	91449431	91449431	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:91449431T>C	ENST00000266719.3	-	2	875	c.628A>G	c.(628-630)Aga>Gga	p.R210G		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	210					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GCTGGTAATCTTGGAGGCATA	0.373000													12	121					0	0	0.132662	0	0
SLC3A1	6519	broad.mit.edu	37	2	44502977	44502977	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:44502977C>A	ENST00000260649.6	+	1	379	c.303C>A	c.(301-303)atC>atA	p.I101I	SLC3A1_ENST00000409741.1_Silent_p.I101I|SLC3A1_ENST00000409387.1_Silent_p.I101I|SLC3A1_ENST00000410056.3_Silent_p.I101I|SLC3A1_ENST00000409229.3_Silent_p.I101I	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	101					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TGGTGCTCATCGCGGCCACCA	0.582000													15	42					7.93312e-07	1.05169e-06	0.119110	1	0
NAV3	89795	broad.mit.edu	37	12	78574791	78574791	+	Silent	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:78574791A>T	ENST00000397909.2	+	30	5831	c.5658A>T	c.(5656-5658)ctA>ctT	p.L1886L	NAV3_ENST00000536525.2_Silent_p.L1864L|NAV3_ENST00000228327.6_Silent_p.L1864L|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Silent_p.L1687L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1886						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GACTTTCTCTAAACAATTTGA	0.488000										HNSCC(70;0.22)			4	48					0	0	0.150653	0	0
ITIH2	3698	broad.mit.edu	37	10	7774354	7774354	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:7774354T>A	ENST00000358415.4	+	14	1867	c.1701T>A	c.(1699-1701)gaT>gaA	p.D567E	ITIH2_ENST00000379587.4_Missense_Mutation_p.D556E	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	567					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACTTGCAGGATTTTCTATCGA	0.468000													14	39					0	0	0.132662	0	0
CHST9	83539	broad.mit.edu	37	18	24604097	24604097	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr18:24604097C>G	ENST00000284224.8	-	4	462	c.185G>C	c.(184-186)cGg>cCg	p.R62P	CHST9_ENST00000581714.1_Missense_Mutation_p.R62P|CHST9_ENST00000580774.1_Missense_Mutation_p.R62P|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	62					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GGGTACAGGCCGCAAGTACTT	0.368000													10	18					0	0	0.335167	0	0
UBE4A	9354	broad.mit.edu	37	11	118261406	118261406	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:118261406G>T	ENST00000252108.3	+	18	2934	c.2803G>T	c.(2803-2805)Gat>Tat	p.D935Y	UBE4A_ENST00000431736.2_Missense_Mutation_p.D942Y|UBE4A_ENST00000545354.1_Missense_Mutation_p.D407Y	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	935					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGTGCCCAAGGATGGACGTTC	0.438000													47	84					1.48734e-19	2.65362e-19	0.312237	1	0
GSR	2936	broad.mit.edu	37	8	30560645	30560645	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:30560645C>A	ENST00000221130.5	-	5	695	c.605G>T	c.(604-606)gGt>gTt	p.G202V	GSR_ENST00000414019.1_Missense_Mutation_p.G159V|GSR_ENST00000546342.1_Missense_Mutation_p.G202V|GSR_ENST00000541648.1_Missense_Mutation_p.G202V|GSR_ENST00000537535.1_Missense_Mutation_p.G202V	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	202					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	GGAGGGCATACCACCTGTGGC	0.522000													23	48					2.89027e-11	4.52827e-11	0.249174	1	0
SPTA1	6708	broad.mit.edu	37	1	158654908	158654908	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:158654908G>T	ENST00000368148.3	-	2	434	c.254C>A	c.(253-255)aCt>aAt	p.T85N	SPTA1_ENST00000368147.3_Missense_Mutation_p.T85N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	85					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)					CTGTATATTAGTTGGGTCTTC	0.388000													25	79					2.48779e-11	3.92045e-11	0.324025	1	0
C2orf44	80304	broad.mit.edu	37	2	24255711	24255711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:24255711C>A	ENST00000295148.4	-	3	1981	c.1924G>T	c.(1924-1926)Gaa>Taa	p.E642*	C2orf44_ENST00000406895.3_Intron	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	642							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAGCATTTCAATGAGAGAA	0.433000			T	ALK	NSCLC								18	96					5.3912e-06	6.87697e-06	0.175082	1	0
MALAT1	378938	broad.mit.edu	37	11	65269314	65269314	+	RNA	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:65269314G>T	ENST00000534336.1	+	0	4082					NR_002819.2																						TTATTAAAGGGGAGGGGCAAA	0.388000													4	9					0.150653	0.154663	0.150653	1	0
MERTK	10461	broad.mit.edu	37	2	112740486	112740486	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:112740486A>T	ENST00000295408.4	+	8	1469	c.1212A>T	c.(1210-1212)agA>agT	p.R404S	MERTK_ENST00000421804.2_Missense_Mutation_p.R404S|MERTK_ENST00000409780.1_Missense_Mutation_p.R228S			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	404	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGGACATCAGATGGATGAAGC	0.453000													13	131					0	0	0.105934	0	0
TWIST1	7291	broad.mit.edu	37	7	19156451	19156451	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:19156451C>G	ENST00000242261.5	-	1	844	c.494G>C	c.(493-495)aGc>aCc	p.S165T		NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	165	Sufficient for transactivation activity (By similarity).				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						CAGCTCGTCGCTCTGGAGGAC	0.612000													5	39					0	0	0.248553	0	0
FASTKD1	79675	broad.mit.edu	37	2	170428515	170428515	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:170428515C>A	ENST00000453153.2	-	2	371	c.25G>T	c.(25-27)Gag>Tag	p.E9*	FASTKD1_ENST00000453929.2_Nonsense_Mutation_p.E9*	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	9					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						ACCAATGACTCTAGGAAAACA	0.363000													7	65					0.0381472	0.0398186	0.278610	1	0
ABCA13	154664	broad.mit.edu	37	7	48311759	48311759	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:48311759C>A	ENST00000435803.1	+	17	2520	c.2496C>A	c.(2494-2496)ccC>ccA	p.P832P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	832					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAATTAATCCCAAATTACTAG	0.308000													3	25					6.4e-05	7.71599e-05	0.115264	1	0
UNC79	57578	broad.mit.edu	37	14	94155059	94155059	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:94155059G>A	ENST00000553484.1	+	46	7295	c.7141G>A	c.(7141-7143)Gga>Aga	p.G2381R	UNC79_ENST00000555664.1_Missense_Mutation_p.G2320R|UNC79_ENST00000393151.2_Missense_Mutation_p.G2359R|UNC79_ENST00000256339.4_Missense_Mutation_p.G2182R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2359						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TACCTTTGGGGGACATCTCAA	0.498000													5	43					0	0	0.184627	0	0
TMEM59L	25789	broad.mit.edu	37	19	18727909	18727909	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:18727909G>T	ENST00000600490.1	+	6	846	c.661G>T	c.(661-663)Gtg>Ttg	p.V221L	TMEM59L_ENST00000262817.3_Missense_Mutation_p.V221L			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	221						Golgi membrane|integral to membrane|membrane fraction		p.V221M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GGAGGTGCACGTGGGTAAGGT	0.632000													15	17					3.27435e-08	4.5728e-08	0.119110	1	0
NPFFR2	10886	broad.mit.edu	37	4	73013266	73013266	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:73013266G>A	ENST00000308744.6	+	4	1404	c.1306G>A	c.(1306-1308)Ggt>Agt	p.G436S	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.G337S|NPFFR2_ENST00000358749.3_Missense_Mutation_p.G334S|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	436					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CATCATTTATGGTTTCTTCAA	0.458000													16	52					0	0	0.160694	0	0
ZAN	7455	broad.mit.edu	37	7	100373109	100373109	+	RNA	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:100373109A>T	ENST00000542585.1	+	0	6084				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAGAAGGAGGAAGGTGGAACT	0.567000													5	39					0	0	0.217242	0	0
MLXIP	22877	broad.mit.edu	37	12	122612480	122612480	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:122612480G>T	ENST00000319080.6	+	3	703	c.571G>T	c.(571-573)Ggc>Tgc	p.G191C				Q9HAP2	MLXIP_HUMAN	MLX interacting protein	191	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ACCCCTGGACGGCTCTGTGGA	0.602000													9	111					2.74318e-10	4.21627e-10	0.335167	1	0
FAT3	120114	broad.mit.edu	37	11	92538430	92538430	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:92538430C>A	ENST00000298047.6	+	10	9025	c.9008C>A	c.(9007-9009)aCt>aAt	p.T3003N	FAT3_ENST00000409404.2_Missense_Mutation_p.T3003N|FAT3_ENST00000525166.1_Missense_Mutation_p.T2853N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3003	Cadherin 27.				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)				CTCAATATCACTGCCACTGAT	0.488000										TCGA Ovarian(4;0.039)			11	18					5.50884e-06	7.00496e-06	0.093190	1	0
SIGLEC6	946	broad.mit.edu	37	19	52034136	52034136	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:52034136G>T	ENST00000346477.3	-	3	573	c.505C>A	c.(505-507)Ccc>Acc	p.P169T	SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P133T|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P169T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P158T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P169T|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P169T	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	169	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CAGACCCAGGGCACAGAGCAG	0.652000													8	57					0.0381472	0.0398186	0.278610	1	0
PCLO	27445	broad.mit.edu	37	7	82579889	82579889	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:82579889C>G	ENST00000423517.2	-	6	10352	c.10015G>C	c.(10015-10017)Ggt>Cgt	p.G3339R	PCLO_ENST00000437081.1_Missense_Mutation_p.G59R|PCLO_ENST00000333891.8_Missense_Mutation_p.G3339R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3270					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCATACTGACCTTCCAAAATT	0.478000													28	60					0	0	0.353513	0	0
HOXB3	3213	broad.mit.edu	37	17	46628343	46628343	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:46628343G>C	ENST00000470495.1	-	2	2096	c.649C>G	c.(649-651)Cgc>Ggc	p.R217G	HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.R144G|HOXB3_ENST00000311626.4_Missense_Mutation_p.R217G|HOXB3_ENST00000490677.1_Missense_Mutation_p.R83G|HOXB3_ENST00000498678.1_Missense_Mutation_p.R217G|HOXB3_ENST00000476342.1_Missense_Mutation_p.R217G|HOXB3_ENST00000472863.1_Missense_Mutation_p.R144G|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.R85G|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.R85G			P14651	HXB3_HUMAN	homeobox B3	217					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTACACGGCGAGGCCGGCAC	0.622000													9	87					0	0	0.069234	0	0
CARD6	84674	broad.mit.edu	37	5	40853102	40853102	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:40853102C>T	ENST00000254691.5	+	3	1867	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	556					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGTTTTTTTTCACTGACTGTT	0.423000													6	179					0	0	0.217242	0	0
TGFB2	7042	broad.mit.edu	37	1	218610705	218610705	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:218610705G>A	ENST00000366929.4	+	7	1504	c.1037G>A	c.(1036-1038)tGc>tAc	p.C346Y	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Missense_Mutation_p.C318Y	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	318					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GATAATTGCTGCCTACGTCCA	0.433000													13	81					0	0	0.093190	0	0
NEURL4	84461	broad.mit.edu	37	17	7227488	7227488	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:7227488G>A	ENST00000399464.2	-	11	2016	c.2001C>T	c.(1999-2001)ggC>ggT	p.G667G	NEURL4_ENST00000570460.1_Silent_p.G645G|NEURL4_ENST00000315614.7_Silent_p.G667G	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGCATAGACGCCCGGGGGCA	0.677000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	96					0	0	0.217242	0	0
GAS7	8522	broad.mit.edu	37	17	9885145	9885145	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:9885145G>A	ENST00000396115.1	-	3	491	c.181C>T	c.(181-183)Cac>Tac	p.H61Y	GAS7_ENST00000437099.2_Missense_Mutation_p.H57Y|GAS7_ENST00000323816.4_Missense_Mutation_p.H57Y|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000585266.1_Missense_Mutation_p.H57Y|GAS7_ENST00000542249.1_Missense_Mutation_p.H66Y|GAS7_ENST00000540214.1_Missense_Mutation_p.H57Y|GAS7_ENST00000432992.2_Missense_Mutation_p.H121Y|GAS7_ENST00000579158.1_Missense_Mutation_p.H73Y	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	121	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GAGCTCCTGTGAGAGCCAGGG	0.552000			T	MLL	AML*								6	73					0	0	0.248553	0	0
OR6B2	389090	broad.mit.edu	37	2	240969497	240969497	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:240969497G>A	ENST00000402971.2	-	1	409	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GTAGGCCATGGAGGCCAGAAG	0.622000													8	24					0	0	0.105934	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20890125	20890125	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:20890125C>A	ENST00000381552.1	+	11	1835	c.1467C>A	c.(1465-1467)ccC>ccA	p.P489P	SLCO1C1_ENST00000540354.1_Silent_p.P440P|SLCO1C1_ENST00000266509.2_Silent_p.P489P|SLCO1C1_ENST00000545604.1_Silent_p.P489P|SLCO1C1_ENST00000545102.1_Silent_p.P371P			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	489	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AATGGGAACCCATGTGCGGTG	0.383000													27	35					2.41591e-17	4.20836e-17	0.309145	1	0
EPHA6	285220	broad.mit.edu	37	3	97329697	97329697	+	Splice_Site	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:97329697G>T	ENST00000389672.5	+	13	2611	c.2574_splice	c.e13+1	p.R858_splice	EPHA6_ENST00000442602.2_Splice_Site_p.R224_splice|EPHA6_ENST00000502694.1_Splice_Site_p.R250_splice|EPHA6_ENST00000514100.1_Splice_Site_p.R250_splice	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	763	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R250L(1)|p.R764L(1)|p.R858L(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						TCCTTTTTGCGGGTGAGGTGT	0.338000													13	23					6.31663e-08	8.76107e-08	0.132662	1	0
TTN	7273	broad.mit.edu	37	2	179454471	179454471	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:179454471G>A	ENST00000589042.1	-	304	62205	c.61981C>T	c.(61981-61983)Ctg>Ttg	p.L20661L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.L11788L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.L18093L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.L19020L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.L11596L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000359218.5_Silent_p.L11721L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19020							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)			TTAATAGCCAGAATGGGAGTT	0.423000													14	220					0	0	0.132662	0	0
EXTL2	2135	broad.mit.edu	37	1	101339551	101339551	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:101339551T>C	ENST00000370114.3	-	5	2376	c.940A>G	c.(940-942)Att>Gtt	p.I314V	EXTL2_ENST00000370113.3_Missense_Mutation_p.I314V|EXTL2_ENST00000535414.1_Missense_Mutation_p.I301V	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	314					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GAAATCATAATGTTGGAGTAT	0.353000													11	47					0	0	0.069234	0	0
POTEH	23784	broad.mit.edu	37	22	16287396	16287396	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr22:16287396C>A	ENST00000343518.6	-	1	541	c.490G>T	c.(490-492)Gct>Tct	p.A164S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	164										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCATGAAAGCGCTGTCGTCG	0.587000													23	169					2.89027e-11	4.52827e-11	0.249174	1	0
LSMEM1	286006	broad.mit.edu	37	7	112124999	112124999	+	Splice_Site	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:112124999G>C	ENST00000312849.4	+	2	488		c.e2+1		LSMEM1_ENST00000429049.1_Splice_Site|LSMEM1_ENST00000439068.2_Splice_Site	NM_182597.2	NP_872403.1			leucine-rich single-pass membrane protein 1																		CATCTGTTCCGTATGTGTGCT	0.507000													3	88					0	0	0.115264	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37442578	37442578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:37442578G>T	ENST00000374660.1	+	13	1717	c.1618G>T	c.(1618-1620)Gga>Tga	p.G540*	ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.G540*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.G540*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	596						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						TAAAATAAATGGAAAATTAGA	0.323000													5	163					1.23904e-05	1.5488e-05	0.184627	1	0
DNAH9	1770	broad.mit.edu	37	17	11659961	11659961	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:11659961G>T	ENST00000262442.3	+	34	6883	c.6815G>T	c.(6814-6816)cGc>cTc	p.R2272L	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2272L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2272	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCCACCTGCGCACAGCCACT	0.547000													7	82					5.18039e-06	6.62894e-06	0.278610	1	0
EGFR	1956	broad.mit.edu	37	7	55259510	55259510	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:55259510T>G	ENST00000275493.2	+	21	2745	c.2568T>G	c.(2566-2568)ttT>ttG	p.F856L	EGFR_ENST00000454757.2_Missense_Mutation_p.F803L|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.F811L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	856	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCACAGATTTTGGGCTGGCCA	0.537000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			3	101					0	0	0.150653	0	0
CPA1	1357	broad.mit.edu	37	7	130022004	130022004	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:130022004T>C	ENST00000011292.3	+	4	587	c.437T>C	c.(436-438)aTc>aCc	p.I146T	CPA1_ENST00000484324.1_Missense_Mutation_p.I58T	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	146					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GTCAGCAAGATCCAGATTGGC	0.532000													19	47					0	0	0.189662	0	0
CBX1	10951	broad.mit.edu	37	17	46148849	46148849	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:46148849G>T	ENST00000393408.3	-	5	986	c.506C>A	c.(505-507)aCg>aAg	p.T169K	CBX1_ENST00000225603.4_Missense_Mutation_p.T169K	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	169	Chromo 2; shadow subtype.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						GGAATGCCACGTCAGCCTTTC	0.502000													8	43					1.12685e-05	1.41731e-05	0.307466	1	0
SMAP1	60682	broad.mit.edu	37	6	71569988	71569988	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:71569988G>C	ENST00000370455.3	+	11	1603	c.1355G>C	c.(1354-1356)tGg>tCg	p.W452S	SMAP1_ENST00000316999.5_Missense_Mutation_p.W425S|SMAP1_ENST00000370452.3_3'UTR|B3GAT2_ENST00000230053.6_3'UTR	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	452					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						ACAGCAGGATGGTCTGGAAGC	0.473000													28	42					0	0	0.353513	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46942867	46942867	+	Splice_Site	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:46942867C>A	ENST00000429979.1	-	4	1223		c.e4+1		KIAA0226L_ENST00000322896.6_Splice_Site|KIAA0226L_ENST00000534925.1_Splice_Site|KIAA0226L_ENST00000378781.3_Splice_Site|KIAA0226L_ENST00000409879.2_Splice_Site|KIAA0226L_ENST00000389908.3_Splice_Site|KIAA0226L_ENST00000378797.2_Splice_Site|KIAA0226L_ENST00000378787.3_Splice_Site|KIAA0226L_ENST00000378784.4_Splice_Site	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like											NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ATAGCATTCACCTTTTCTACA	0.348000													3	70					0.00024832	0.000288993	0.150653	1	0
ACTA1	58	broad.mit.edu	37	1	229568535	229568535	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:229568535C>T	ENST00000366684.3	-	3	324	c.222G>A	c.(220-222)gaG>gaA	p.E74E	ACTA1_ENST00000366683.2_Silent_p.E74E	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	74			E -> K (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGATGCCGTGCTCGATAGGGT	0.577000													6	106					0	0	0.248553	0	0
NRXN1	9378	broad.mit.edu	37	2	50765686	50765686	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:50765686C>T	ENST00000404971.1	-	11	3307	c.1968G>A	c.(1966-1968)ggG>ggA	p.G656G	NRXN1_ENST00000405472.3_Silent_p.G608G|NRXN1_ENST00000401669.2_Silent_p.G616G|NRXN1_ENST00000406859.3_Silent_p.G616G|NRXN1_ENST00000402717.3_Silent_p.G608G|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.G616G	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	616	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGGCAGCCCCCCCAGGTACA	0.517000													7	78					0	0	0.248553	0	0
COL4A1	1282	broad.mit.edu	37	13	110804758	110804758	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:110804758G>T	ENST00000375820.4	-	51	4972	c.4851C>A	c.(4849-4851)caC>caA	p.H1617Q		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1617	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCCACGGCCGTGACACTCGA	0.572000													11	28					0.0809354	0.0841562	0.080935	1	0
ASB17	127247	broad.mit.edu	37	1	76384716	76384716	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:76384716G>T	ENST00000284142.6	-	3	948	c.809C>A	c.(808-810)aCc>aAc	p.T270N		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	270	SOCS box.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CATATTGTTGGTTAATAGTTG	0.328000													10	40					6.40141e-05	7.71599e-05	0.080935	1	0
GABRG1	2565	broad.mit.edu	37	4	46060519	46060519	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:46060519A>G	ENST00000295452.4	-	6	913	c.746T>C	c.(745-747)aTc>aCc	p.I249T		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	249					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CGTGTGAGTGATTTCAGTTGA	0.323000													8	50					0	0	0.278610	0	0
CDKL2	8999	broad.mit.edu	37	4	76523301	76523301	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:76523301T>C	ENST00000429927.2	-	8	1683	c.980A>G	c.(979-981)gAt>gGt	p.D327G	CDKL2_ENST00000307465.4_Missense_Mutation_p.D327G	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	327					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TAAGGAATCATCTTTTTCTTT	0.274000													4	38					0	0	0.217242	0	0
KIF6	221458	broad.mit.edu	37	6	39328218	39328218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:39328218G>A	ENST00000287152.7	-	18	2129	c.2035C>T	c.(2035-2037)Cag>Tag	p.Q679*	KIF6_ENST00000373216.3_Nonsense_Mutation_p.Q679*|KIF6_ENST00000373213.4_Nonsense_Mutation_p.Q518*|KIF6_ENST00000541946.1_Nonsense_Mutation_p.Q130*|KIF6_ENST00000229913.5_Nonsense_Mutation_p.Q130*|KIF6_ENST00000394362.1_Nonsense_Mutation_p.Q130*|KIF6_ENST00000373215.3_Nonsense_Mutation_p.Q662*|KIF6_ENST00000538893.1_Nonsense_Mutation_p.Q623*	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	679					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AACTCTTTCTGTAGCTTCACC	0.557000													11	123					0	0	0.093190	0	0
CSMD1	64478	broad.mit.edu	37	8	3081280	3081280	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:3081280C>A	ENST00000520002.1	-	29	5013	c.4458G>T	c.(4456-4458)ccG>ccT	p.P1486P	CSMD1_ENST00000602557.1_Silent_p.P1486P|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Silent_p.P1486P|CSMD1_ENST00000542608.1_Silent_p.P1485P|CSMD1_ENST00000539096.1_Silent_p.P1485P|CSMD1_ENST00000537824.1_Silent_p.P1485P|CSMD1_ENST00000602723.1_Silent_p.P1486P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1486	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGACAAAGTCCGGGTTCACTT	0.428000													8	32					6.40141e-05	7.71599e-05	0.080935	1	0
DBH	1621	broad.mit.edu	37	9	136501520	136501520	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:136501520C>A	ENST00000393056.2	+	1	39	c.27C>A	c.(25-27)agC>agA	p.S9R		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	9					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GCTGGGCCAGCCTGCCCGGCC	0.677000													4	34					0.000602214	0.000683184	0.184627	1	0
ADAM23	8745	broad.mit.edu	37	2	207429762	207429762	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:207429762C>A	ENST00000264377.3	+	14	1692	c.1364C>A	c.(1363-1365)tCc>tAc	p.S455Y	ADAM23_ENST00000374415.3_Missense_Mutation_p.S455Y|ADAM23_ENST00000374416.1_Missense_Mutation_p.S455Y	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	455	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGCACAGAATCCTGGGGTGGC	0.363000													7	77					5.18039e-06	6.62894e-06	0.278610	1	0
MROH2B	133558	broad.mit.edu	37	5	41012739	41012739	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:41012739A>T	ENST00000399564.4	-	30	3531	c.3081T>A	c.(3079-3081)tgT>tgA	p.C1027*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.C582*	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCCATATGCCACAGGCCTTTG	0.453000													4	82					0	0	0.150653	0	0
XPO1	7514	broad.mit.edu	37	2	61720117	61720117	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:61720117T>A	ENST00000401558.2	-	13	2044	c.1317A>T	c.(1315-1317)gaA>gaT	p.E439D	XPO1_ENST00000406957.1_Missense_Mutation_p.E439D|XPO1_ENST00000404992.2_Missense_Mutation_p.E439D	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	439	Interaction with RANBP3.|Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CTCTCACAACTTCTCCTTGAT	0.318000			Mis		CLL								13	109					0	0	0.105934	0	0
KANTR	102723508	broad.mit.edu	37	X	53172301	53172301	+	RNA	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:53172301A>G	ENST00000604849.1	+	0	864																											TTCCATGCCCAAGAAGGAAGG	0.552000													14	16					0	0	0.119110	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124232159	124232159	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:124232159G>T	ENST00000330342.3	+	14	1859	c.1611G>T	c.(1609-1611)tgG>tgT	p.W537C		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	537					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TTTAGATTTGGAACTTGGCCA	0.368000													25	50					3.6726e-16	6.34287e-16	0.294199	1	0
OR6K3	391114	broad.mit.edu	37	1	158687357	158687357	+	Silent	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:158687357A>G	ENST00000368146.1	-	1	596	c.597T>C	c.(595-597)ccT>ccC	p.P199P	OR6K3_ENST00000368145.1_Silent_p.P183P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GGCTTAGCACAGGGACCAAGT	0.478000													22	90					0	0	0.324025	0	0
EPHA5	2044	broad.mit.edu	37	4	66509116	66509116	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:66509116C>T	ENST00000273854.3	-	2	811	c.211G>A	c.(211-213)Ggg>Agg	p.G71R	EPHA5_ENST00000354839.4_Missense_Mutation_p.G71R|EPHA5_ENST00000511294.1_Missense_Mutation_p.G71R|EPHA5_ENST00000432638.2_Missense_Mutation_p.G71R	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	71					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						CCCAGGTCCCCCATGACAGTG	0.318000										TSP Lung(17;0.13)			6	34					0	0	0.278610	0	0
SULT1E1	6783	broad.mit.edu	37	4	70723311	70723311	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:70723311G>T	ENST00000226444.3	-	2	164	c.52C>A	c.(52-54)Cta>Ata	p.L18I		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	18					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTATACATTAGAATCCCATGG	0.348000													16	47					1.15088e-07	1.56938e-07	0.146539	1	0
PHKB	5257	broad.mit.edu	37	16	47622890	47622890	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:47622890G>T	ENST00000455779.1	+	11	1109	c.924G>T	c.(922-924)caG>caT	p.Q308H	PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Missense_Mutation_p.Q308H|PHKB_ENST00000323584.5_Missense_Mutation_p.Q315H|PHKB_ENST00000299167.8_Missense_Mutation_p.Q315H			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	315					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTTTTAGCCAGACACTTGATA	0.408000													9	48					3.07112e-06	3.96747e-06	0.080935	1	0
CILP	8483	broad.mit.edu	37	15	65489641	65489641	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:65489641C>T	ENST00000261883.4	-	9	3149	c.2983G>A	c.(2983-2985)Gac>Aac	p.D995N		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	995					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGGTCCCTGTCCCGAGTGCTC	0.587000													13	35					0	0	0.093190	0	0
KLHL6	89857	broad.mit.edu	37	3	183217606	183217606	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:183217606C>A	ENST00000341319.3	-	4	954	c.919G>T	c.(919-921)Gaa>Taa	p.E307*		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	307								p.E307*(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TTGGTGCGTTCCGAAATGATC	0.532000													18	23					1.67942e-08	2.39494e-08	0.175082	1	0
COL4A1	1282	broad.mit.edu	37	13	110866325	110866325	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:110866325C>A	ENST00000375820.4	-	3	303	c.182G>T	c.(181-183)gGg>gTg	p.G61V	COL4A1_ENST00000543140.1_Missense_Mutation_p.G61V	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	61					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCAGGAAACCCAATGACACC	0.547000													27	55					6.36457e-07	8.5071e-07	0.294199	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33637846	33637846	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:33637846T>G	ENST00000504830.1	-	12	2059	c.1724A>C	c.(1723-1725)aAg>aCg	p.K575T	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K575T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	575	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCTCCAAACTTTGGCCTGCA	0.463000										HNSCC(64;0.19)			4	56					0	0	0.184627	0	0
CPA3	1359	broad.mit.edu	37	3	148601591	148601591	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:148601591C>T	ENST00000296046.3	+	9	1022	c.970C>T	c.(970-972)Cat>Tat	p.H324Y	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	324					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCCACCTAACCATGAGGACTT	0.393000													10	45					0	0	0.069234	0	0
ATOH1	474	broad.mit.edu	37	4	94751134	94751134	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:94751134G>A	ENST00000306011.3	+	1	1093	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	353					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CTCGGATGAGGCAAGTTAGGA	0.547000													13	53					0	0	0.105934	0	0
LPHN2	23266	broad.mit.edu	37	1	82452992	82452992	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:82452992G>T	ENST00000370715.1	+	20	3693	c.3477G>T	c.(3475-3477)ctG>ctT	p.L1159L	LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370717.2_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370728.1_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000370713.1_Intron			O95490	LPHN2_HUMAN	latrophilin 2	1172					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)		CACATGGTCTGAGAGCCCATC	0.313000													7	32					2.0095e-06	2.62531e-06	0.248553	1	0
HTR2A	3356	broad.mit.edu	37	13	47466575	47466575	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:47466575G>T	ENST00000378688.4	-	2	694	c.563C>A	c.(562-564)tCc>tAc	p.S188Y	HTR2A_ENST00000543956.1_Missense_Mutation_p.S104Y|HTR2A_ENST00000542664.1_Missense_Mutation_p.S188Y			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	188					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTTAGTTCTGGAGTTGAAGCG	0.498000													51	255					7.89702e-26	1.46375e-25	0.323286	1	0
STOML3	161003	broad.mit.edu	37	13	39542642	39542642	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:39542642C>A	ENST00000379631.4	-	6	890	c.546G>T	c.(544-546)tgG>tgT	p.W182C	STOML3_ENST00000423210.1_Missense_Mutation_p.W173C	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	182						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CCCGGATCCCCCACAGTTCGG	0.483000													18	60					3.99206e-14	6.68092e-14	0.189662	1	0
TTC3	7267	broad.mit.edu	37	21	38536435	38536435	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr21:38536435G>T	ENST00000399017.2	+	32	6000	c.3253G>T	c.(3253-3255)Gac>Tac	p.D1085Y	TTC3_ENST00000354749.2_Missense_Mutation_p.D1085Y|TTC3_ENST00000355666.1_Missense_Mutation_p.D1085Y|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1085					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGCTCTCTATGACCAACACAG	0.393000													4	62					0.150653	0.154663	0.150653	1	0
ZP2	7783	broad.mit.edu	37	16	21213478	21213478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:21213478G>A	ENST00000574002.1	-	12	1716	c.1234C>T	c.(1234-1236)Cag>Tag	p.Q412*	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Nonsense_Mutation_p.Q412*|ZP2_ENST00000574091.1_Nonsense_Mutation_p.Q412*			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	412	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ACCAGCCCCTGAGACTGAGCC	0.512000													6	40					0	0	0.217242	0	0
PHLDB2	90102	broad.mit.edu	37	3	111672843	111672843	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:111672843G>T	ENST00000431670.2	+	12	3250	c.2839G>T	c.(2839-2841)Gcc>Tcc	p.A947S	PHLDB2_ENST00000481953.1_Missense_Mutation_p.A904S|PHLDB2_ENST00000495180.1_Missense_Mutation_p.A438S|PHLDB2_ENST00000412622.1_Missense_Mutation_p.A904S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.A931S|PHLDB2_ENST00000393925.3_Missense_Mutation_p.A947S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	947						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGCAGCCATGGCCAAAGACTC	0.527000													6	15					1.06961e-07	1.46597e-07	0.278610	1	0
EXPH5	23086	broad.mit.edu	37	11	108383784	108383784	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:108383784C>T	ENST00000265843.4	-	6	2560	c.2450G>A	c.(2449-2451)aGa>aAa	p.R817K	EXPH5_ENST00000525344.1_Missense_Mutation_p.R810K|EXPH5_ENST00000443411.1_Missense_Mutation_p.R629K|EXPH5_ENST00000428840.1_Missense_Mutation_p.R741K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	817					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGGTGGTGTTCTGTGTTCCTG	0.388000													9	117					0	0	0.069234	0	0
BSN	8927	broad.mit.edu	37	3	49691858	49691858	+	Silent	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:49691858A>T	ENST00000296452.4	+	5	4983	c.4869A>T	c.(4867-4869)gcA>gcT	p.A1623A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1623					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)		GTGCTGGTGCAGATGGGCCCC	0.642000													8	13					0	0	0.278610	0	0
OR10R2	343406	broad.mit.edu	37	1	158450540	158450540	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:158450540C>A	ENST00000368152.1	+	1	873	c.873C>A	c.(871-873)gaC>gaA	p.D291E	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCAACAAAGACAGGCTGGTGA	0.453000													7	53					0.0293803	0.0308265	0.248553	1	0
TPO	7173	broad.mit.edu	37	2	1426887	1426887	+	Nonsense_Mutation	SNP	C	C	A	rs149346954		TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:1426887C>A	ENST00000345913.4	+	3	256	c.165C>A	c.(163-165)taC>taA	p.Y55*	TPO_ENST00000329066.4_Nonsense_Mutation_p.Y55*|TPO_ENST00000539820.1_Nonsense_Mutation_p.Y55*|TPO_ENST00000346956.3_Nonsense_Mutation_p.Y55*|TPO_ENST00000382201.3_Nonsense_Mutation_p.Y55*|TPO_ENST00000382269.3_Nonsense_Mutation_p.Y55*|TPO_ENST00000337415.3_Nonsense_Mutation_p.Y55*|TPO_ENST00000382198.1_Nonsense_Mutation_p.Y55*|TPO_ENST00000349624.3_Nonsense_Mutation_p.Y55*|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	55					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)	CCGCCATGTACGCCACGATGC	0.597000													7	27					0.00307968	0.00338472	0.278610	1	0
WNT7A	7476	broad.mit.edu	37	3	13896294	13896294	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:13896294C>G	ENST00000285018.4	-	3	609	c.305G>C	c.(304-306)cGg>cCg	p.R102P		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	102					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CGCAGCCTCCCGGCTCCCTGC	0.622000													7	32					0	0	0.278610	0	0
LPHN3	23284	broad.mit.edu	37	4	62812713	62812713	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:62812713C>T	ENST00000512091.1	+	15	3044	c.2297C>T	c.(2296-2298)aCg>aTg	p.T766M	LPHN3_ENST00000506700.1_Missense_Mutation_p.T766M|LPHN3_ENST00000508946.1_Missense_Mutation_p.T766M|LPHN3_ENST00000507164.1_Missense_Mutation_p.T834M|LPHN3_ENST00000545650.1_Missense_Mutation_p.T766M|LPHN3_ENST00000507625.1_Missense_Mutation_p.T834M|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000514157.1_Missense_Mutation_p.T766M|LPHN3_ENST00000514996.1_Missense_Mutation_p.T766M|LPHN3_ENST00000506720.1_Missense_Mutation_p.T834M|LPHN3_ENST00000504896.1_Missense_Mutation_p.T766M|LPHN3_ENST00000506746.1_Missense_Mutation_p.T834M|LPHN3_ENST00000511324.1_Missense_Mutation_p.T834M|LPHN3_ENST00000514591.1_Missense_Mutation_p.T766M|LPHN3_ENST00000509896.1_Missense_Mutation_p.T834M|LPHN3_ENST00000508693.1_Missense_Mutation_p.T834M			Q9HAR2	LPHN3_HUMAN	latrophilin 3	753					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						AAGTTGGGAACGGAAGCTTTG	0.403000													13	126					0	0	0.132662	0	0
TG	7038	broad.mit.edu	37	8	133920554	133920554	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:133920554A>T	ENST00000220616.4	+	18	4011	c.3971A>T	c.(3970-3972)gAg>gTg	p.E1324V	TG_ENST00000377869.1_Missense_Mutation_p.E1324V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1324					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATATTGGATGAGCTGACAGCC	0.567000													4	45					0	0	0.150653	0	0
PHLDB2	90102	broad.mit.edu	37	3	111672842	111672842	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:111672842G>T	ENST00000431670.2	+	12	3249	c.2838G>T	c.(2836-2838)atG>atT	p.M946I	PHLDB2_ENST00000481953.1_Missense_Mutation_p.M903I|PHLDB2_ENST00000495180.1_Missense_Mutation_p.M437I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M903I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M930I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M946I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	946						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGGCAGCCATGGCCAAAGACT	0.522000													6	16					1.06961e-07	1.46597e-07	0.278610	1	0
LUM	4060	broad.mit.edu	37	12	91502155	91502155	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:91502155G>C	ENST00000266718.4	-	2	1056	c.602C>G	c.(601-603)tCt>tGt	p.S201C	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	201					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AGGGAGACCAGAAGGCAGTCT	0.418000													5	84					0	0	0.248553	0	0
ANGPT1	284	broad.mit.edu	37	8	108276559	108276559	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:108276559G>T	ENST00000520734.1	-	7	911	c.626C>A	c.(625-627)aCt>aAt	p.T209N	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.T208N			Q15389	ANGP1_HUMAN	angiopoietin 1	409					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGCTGTCCCAGTGTGACCTTT	0.403000													10	42					0.000442599	0.00051142	0.335167	1	0
CST8	10047	broad.mit.edu	37	20	23476503	23476503	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:23476503C>T	ENST00000246012.1	+	4	738	c.381C>T	c.(379-381)ccC>ccT	p.P127P		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	127						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GAGCACTTCCCTGGAATGGTG	0.353000													20	91					0	0	0.249174	0	0
FBL	2091	broad.mit.edu	37	19	40331137	40331137	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:40331137C>A	ENST00000221801.3	-	3	313	c.200G>T	c.(199-201)gGt>gTt	p.G67V		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	67	DMA/Gly-rich.				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CCGGTTGCCACCAGAATGGAA	0.577000													50	157					8.99859e-20	1.61258e-19	0.323286	1	0
MYLK3	91807	broad.mit.edu	37	16	46743503	46743503	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:46743503C>A	ENST00000394809.4	-	12	2463	c.2348G>T	c.(2347-2349)cGt>cTt	p.R783L	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Missense_Mutation_p.R442L	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	783					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGATTTGAGACGAGTTTTGGA	0.413000													40	74					2.2871e-25	4.21993e-25	0.257332	1	0
AIM2	9447	broad.mit.edu	37	1	159036096	159036096	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:159036096G>T	ENST00000368130.4	-	4	708	c.420C>A	c.(418-420)gcC>gcA	p.A140A	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	140	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					ATTCCTGCTGGGCCACCATCT	0.458000													18	66					2.37509e-13	3.92617e-13	0.219247	1	0
RGPD4	285190	broad.mit.edu	37	2	108487634	108487634	+	Missense_Mutation	SNP	A	A	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:108487634A>C	ENST00000408999.3	+	20	3251	c.3174A>C	c.(3172-3174)aaA>aaC	p.K1058N	RGPD4_ENST00000354986.4_Missense_Mutation_p.K1058N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1058	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAGGTGAAAAAGTTCTGTATT	0.393000													18	598					0	0	0.175082	0	0
PTPN3	5774	broad.mit.edu	37	9	112145729	112145729	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:112145729G>C	ENST00000412145.1	-	18	4516	c.1963C>G	c.(1963-1965)Cga>Gga	p.R655G	PTPN3_ENST00000446349.1_Missense_Mutation_p.R610G|PTPN3_ENST00000374541.2_Missense_Mutation_p.R786G|PTPN3_ENST00000394827.3_Missense_Mutation_p.R254G|PTPN3_ENST00000262539.3_Missense_Mutation_p.R632G	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	786	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGCATTTCTCGGGACACATAG	0.602000													37	73					0	0	0.214465	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569483	76569483	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:76569483C>A	ENST00000307431.8	+	19	3179	c.2794C>A	c.(2794-2796)Cgg>Agg	p.R932R	CNTNAP4_ENST00000377504.4_Silent_p.R884R|CNTNAP4_ENST00000478060.1_Silent_p.R860R|CNTNAP4_ENST00000476707.1_Silent_p.R936R|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	933	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGGCTGCATTCGGTCTCTGCA	0.493000													14	42					1.49906e-05	1.86519e-05	0.119110	1	0
AKAP14	158798	broad.mit.edu	37	X	119048729	119048729	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:119048729G>A	ENST00000371431.3	+	5	603	c.329G>A	c.(328-330)aGc>aAc	p.S110N	AKAP14_ENST00000371425.4_Intron|AKAP14_ENST00000334356.2_Intron|AKAP14_ENST00000371423.2_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	110						cytoplasm		p.S110N(1)		endometrium(4)|large_intestine(1)|lung(8)	13						TTAATTCACAGCTTCCTCTAC	0.418000													15	54					0	0	0.146539	0	0
ROCK1	6093	broad.mit.edu	37	18	18624092	18624092	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr18:18624092C>A	ENST00000399799.1	-	6	1586	c.646G>T	c.(646-648)Gat>Tat	p.D216Y		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	216	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.D216Y(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GTACCAAAATCTGCTAACTTC	0.318000													73	57					2.53381e-72	4.86347e-72	0.323286	1	0
SORBS2	8470	broad.mit.edu	37	4	186544296	186544296	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:186544296G>A	ENST00000431808.1	-	14	2838	c.2275C>T	c.(2275-2277)Cgc>Tgc	p.R759C	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.R759C|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.R859C|SORBS2_ENST00000418609.1_Missense_Mutation_p.R663C			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	759						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGATGAGGCGGTGCAGGATG	0.562000													19	135					0	0	0.264190	0	0
POSTN	10631	broad.mit.edu	37	13	38161989	38161989	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:38161989C>A	ENST00000379747.4	-	5	693	c.576G>T	c.(574-576)ttG>ttT	p.L192F	POSTN_ENST00000379749.4_Missense_Mutation_p.L192F|POSTN_ENST00000379743.4_Missense_Mutation_p.L192F|POSTN_ENST00000541481.1_Missense_Mutation_p.L192F|POSTN_ENST00000541179.1_Missense_Mutation_p.L192F|POSTN_ENST00000379742.4_Missense_Mutation_p.L192F	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	192	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGAAAAGCCCCAAATTGTTAT	0.274000													7	45					6.5536e-12	1.04496e-11	0.278610	1	0
OR2AK2	391191	broad.mit.edu	37	1	248128787	248128787	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:248128787G>T	ENST00000366480.3	+	1	253	c.154G>T	c.(154-156)Gtt>Ttt	p.V52F	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCTCTTTACAGTTGCTCTGAC	0.433000													62	110					1.31171e-36	2.48825e-36	0.323286	1	0
ITGAX	3687	broad.mit.edu	37	16	31371363	31371363	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:31371363G>T	ENST00000268296.4	+	7	805	c.684G>T	c.(682-684)acG>acT	p.T228T	ITGAX_ENST00000562522.1_Silent_p.T228T	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	228	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						TTACATACACGGCCACCGCCA	0.527000													16	63					5.01169e-05	6.11366e-05	0.160694	1	0
LILRA4	23547	broad.mit.edu	37	19	54849819	54849819	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:54849819G>T	ENST00000291759.4	-	3	259	c.203C>A	c.(202-204)tCg>tAg	p.S68*		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	68	Ig-like C2-type 1.					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)		TATGTGCCTCGACATTGAGTT	0.517000													18	88					8.28177e-16	1.42124e-15	0.189662	1	0
ELP4	26610	broad.mit.edu	37	11	31784994	31784994	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:31784994C>T	ENST00000395934.2	+	11	1475	c.1468C>T	c.(1468-1470)Cat>Tat	p.H490Y	Z83001.1_ENST00000434742.1_RNA|Z83001.1_ENST00000429821.1_RNA|Z83001.1_ENST00000454509.1_RNA|ELP4_ENST00000350638.5_Intron|ELP4_ENST00000379163.5_Silent_p.N394N			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	0					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AAGAGAGGAACATTTATCCTC	0.418000													7	64					0	0	0.278610	0	0
DST	667	broad.mit.edu	37	6	56484516	56484516	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:56484516C>A	ENST00000370765.6	-	23	4423	c.4316G>T	c.(4315-4317)aGa>aTa	p.R1439I	DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5112					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)			ACCAAGCTCTCTGAGTTGTTG	0.393000													17	152					5.26018e-13	8.62499e-13	0.234183	1	0
CDH10	1008	broad.mit.edu	37	5	24488153	24488153	+	Silent	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:24488153A>T	ENST00000264463.4	-	12	2493	c.1986T>A	c.(1984-1986)ggT>ggA	p.G662G	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	662					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTCCTCTCCACCACCCTCAT	0.453000										HNSCC(23;0.051)			5	93					0	0	0.184627	0	0
CTNNA2	1496	broad.mit.edu	37	2	79878745	79878745	+	Silent	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:79878745G>C	ENST00000466387.1	+	6	787	c.63G>C	c.(61-63)acG>acC	p.T21T	CTNNA2_ENST00000402739.4_Silent_p.T21T|CTNNA2_ENST00000496558.1_Silent_p.T21T|CTNNA2_ENST00000361291.4_Silent_p.T55T|CTNNA2_ENST00000541047.1_Silent_p.T21T|CTNNA2_ENST00000540488.1_Silent_p.T21T|CTNNA2_ENST00000409266.1_Silent_p.T21T			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	21					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						AAATCCGGACGCTAACAGTGG	0.408000													10	40					0	0	0.093190	0	0
PPP1R1C	151242	broad.mit.edu	37	2	182850885	182850885	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:182850885C>A	ENST00000409137.3	+	1	291	c.48C>A	c.(46-48)ttC>ttA	p.F16L	PPP1R1C_ENST00000280295.3_Missense_Mutation_p.F16L|PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.F16L|PPP1R1C_ENST00000409702.1_Missense_Mutation_p.F16L	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	16					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			TGCCTGTATTCCAGAGTCAGA	0.418000													8	71					1.12685e-05	1.41731e-05	0.307466	1	0
SH3TC2	79628	broad.mit.edu	37	5	148406797	148406797	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:148406797G>T	ENST00000538184.1	-	7	2027	c.1139C>A	c.(1138-1140)aCt>aAt	p.T380N	SH3TC2_ENST00000512049.1_Missense_Mutation_p.T826N|SH3TC2_ENST00000394358.2_Missense_Mutation_p.T718N|SH3TC2_ENST00000515425.1_Missense_Mutation_p.T833N			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	833							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCTTTGAGTGAGACTCTC	0.562000													64	107					2.69673e-31	5.07989e-31	0.323286	1	0
MYO9A	4649	broad.mit.edu	37	15	72190946	72190946	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:72190946G>A	ENST00000356056.5	-	25	4370	c.3898C>T	c.(3898-3900)Cct>Tct	p.P1300S	MYO9A_ENST00000424560.1_Missense_Mutation_p.P1300S|MYO9A_ENST00000566885.1_Missense_Mutation_p.P920S|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.P1300S|MYO9A_ENST00000444904.1_Missense_Mutation_p.P1281S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1300	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTCTGAAGGAGAAATACCA	0.468000													38	64					0	0	0.235728	0	0
PEX1	5189	broad.mit.edu	37	7	92146692	92146692	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:92146692C>A	ENST00000248633.4	-	5	1232	c.1137G>T	c.(1135-1137)gaG>gaT	p.E379D	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Missense_Mutation_p.E379D|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	379					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)			CACAGGCCTTCTCATCTTCTT	0.358000													41	138					1.52319e-26	2.84938e-26	0.268233	1	0
DLGAP5	9787	broad.mit.edu	37	14	55650349	55650349	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:55650349C>G	ENST00000247191.2	-	3	577	c.361G>C	c.(361-363)Ggt>Cgt	p.G121R	DLGAP5_ENST00000395425.2_Missense_Mutation_p.G121R	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	121					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CTATAACGACCCACTTTAAAT	0.333000													13	28					0	0	0.132662	0	0
PSD2	84249	broad.mit.edu	37	5	139201498	139201498	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:139201498C>A	ENST00000274710.3	+	6	1323	c.1118C>A	c.(1117-1119)cCg>cAg	p.P373Q		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	373	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.P373Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCCTTCCCGCTGATGGGG	0.582000													31	36					1.36615e-20	2.45361e-20	0.173368	1	0
GALC	2581	broad.mit.edu	37	14	88407756	88407756	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:88407756C>T	ENST00000261304.2	-	15	1923	c.1817G>A	c.(1816-1818)aGg>aAg	p.R606K	GALC_ENST00000393569.2_Missense_Mutation_p.R580K|GALC_ENST00000393568.4_Missense_Mutation_p.R583K|GALC_ENST00000544807.2_Missense_Mutation_p.R550K	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	606					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACCTGTAACCCTGTAAGATCC	0.358000													9	115					0	0	0.307466	0	0
KRT24	192666	broad.mit.edu	37	17	38856534	38856534	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:38856534C>A	ENST00000264651.2	-	4	1013	c.957G>T	c.(955-957)gcG>gcT	p.A319A		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	319	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCTCGTACTGCGCCCTCATGT	0.542000													23	168					6.44725e-10	9.74305e-10	0.249174	1	0
NTSR2	23620	broad.mit.edu	37	2	11798797	11798797	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:11798797G>C	ENST00000306928.5	-	4	1075	c.1041C>G	c.(1039-1041)ttC>ttG	p.F347L		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	347					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AGCTGACGTAGAAAAGTGTGT	0.532000													25	53					0	0	0.324025	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627784	43627784	+	Silent	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:43627784A>T	ENST00000332857.6	-	4	931	c.903T>A	c.(901-903)ccT>ccA	p.P301P	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GGCGGGAAAGAGGATCTTGCT	0.547000													61	201					0	0	0.323286	0	0
ZNF283	284349	broad.mit.edu	37	19	44352416	44352416	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:44352416G>T	ENST00000324461.7	+	7	1960	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C	ZNF283_ENST00000588797.1_Missense_Mutation_p.G416C	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G555C(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TTTTAGTCGTGGCTATCACCT	0.413000													49	35					1.47857e-17	2.58671e-17	0.323286	1	0
RBM34	23029	broad.mit.edu	37	1	235301475	235301475	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:235301475G>C	ENST00000408888.3	-	7	946	c.716C>G	c.(715-717)cCt>cGt	p.P239R	RBM34_ENST00000366606.3_Missense_Mutation_p.P234R			P42696	RBM34_HUMAN	RNA binding motif protein 34	239	RRM 1.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTTCTGATCAGGATGAATTTT	0.333000													3	29					0	0	0.115264	0	0
OR10K2	391107	broad.mit.edu	37	1	158390586	158390586	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:158390586T>C	ENST00000314902.2	-	1	70	c.71A>G	c.(70-72)cAg>cGg	p.Q24R		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GAGCAGCTGCTGCAGCCTGGC	0.522000													21	40					0	0	0.264190	0	0
CASS4	57091	broad.mit.edu	37	20	55027543	55027543	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:55027543G>T	ENST00000371336.3	+	5	1512	c.1311G>T	c.(1309-1311)ctG>ctT	p.L437L	CASS4_ENST00000360314.3_Silent_p.L437L|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	437					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCTTGGACCTGGATGTGGCCA	0.572000													5	45					0.000602214	0.000683184	0.184627	1	0
DDX31	64794	broad.mit.edu	37	9	135470484	135470484	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:135470484C>T	ENST00000372159.3	-	20	2476	c.2325G>A	c.(2323-2325)aaG>aaA	p.K775K	DDX31_ENST00000438527.3_Silent_p.K646K|DDX31_ENST00000372153.1_Silent_p.K702K	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	775						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCTGGGTCTTCTTATGAAGGT	0.463000													6	83					0	0	0.278610	0	0
GDPD5	81544	broad.mit.edu	37	11	75155473	75155473	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:75155473G>A	ENST00000526177.1	-	6	2246	c.368C>T	c.(367-369)gCt>gTt	p.A123V	GDPD5_ENST00000533805.1_Missense_Mutation_p.A16V|GDPD5_ENST00000533784.1_Missense_Mutation_p.A142V|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000336898.3_Missense_Mutation_p.A261V|GDPD5_ENST00000529721.1_Missense_Mutation_p.A261V|GDPD5_ENST00000376282.3_Missense_Mutation_p.A142V			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	261					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GGTAATGTCAGCCTGGAGCCC	0.612000													7	75					0	0	0.278610	0	0
TBC1D4	9882	broad.mit.edu	37	13	75900391	75900391	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:75900391C>T	ENST00000377636.3	-	10	2321	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G659R|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G659R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	659						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TGAGCCCTCCCATCCTGCAAA	0.557000													8	37					0	0	0.335167	0	0
GEN1	348654	broad.mit.edu	37	2	17953995	17953995	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:17953995G>T	ENST00000381254.2	+	8	1111	c.897G>T	c.(895-897)gaG>gaT	p.E299D	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.E299D	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	299					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTCCTTGTGAGTGGCACCGTA	0.358000								Homologous recombination					8	43					0.335167	0.340207	0.335167	1	0
IGDCC4	57722	broad.mit.edu	37	15	65682492	65682492	+	Splice_Site	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:65682492C>A	ENST00000352385.2	-	13	2618		c.e13+1			NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4							integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTAGTCCCCACCTGGTGTAAT	0.547000													7	48					3.09899e-07	4.19061e-07	0.307466	1	0
UGT2B11	10720	broad.mit.edu	37	4	70079862	70079862	+	Nonsense_Mutation	SNP	G	G	T	rs145784351		TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:70079862G>T	ENST00000446444.1	-	1	587	c.579C>A	c.(577-579)taC>taA	p.Y193*	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	193					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CAATAGGTATGTAGGAAGGAG	0.388000													19	46					6.94344e-10	1.04734e-09	0.175082	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33881337	33881337	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:33881337G>A	ENST00000504830.1	-	2	711	c.376C>T	c.(376-378)Ctc>Ttc	p.L126F	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L126F|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.L126F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	126					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L126F(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACATGGGAGAGGTTCCCATAT	0.502000										HNSCC(64;0.19)			44	49					0	0	0.290176	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125504849	125504849	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:125504849G>T	ENST00000431078.1	+	14	2482	c.2118G>T	c.(2116-2118)agG>agT	p.R706S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	706	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCAATGAAAGGCACCCTTACT	0.552000													7	43					0.000157383	0.000185561	0.278610	1	0
TLDC2	140711	broad.mit.edu	37	20	35509142	35509142	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:35509142C>A	ENST00000217320.3	+	4	471	c.427C>A	c.(427-429)Cca>Aca	p.P143T	TLDC2_ENST00000602922.1_Missense_Mutation_p.P143T	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		CTCCTTCTCCCCACAGCTGAA	0.572000													15	62					4.7546e-09	6.96425e-09	0.146539	1	0
FAT2	2196	broad.mit.edu	37	5	150911281	150911281	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:150911281C>G	ENST00000261800.5	-	13	9690	c.9678G>C	c.(9676-9678)caG>caC	p.Q3226H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3226	Cadherin 29.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCGGGCACCTGCACGCTGT	0.682000													3	31					0	0	0.184627	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111945062	111945062	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:111945062C>G	ENST00000374566.3	-	24	2951	c.2434G>C	c.(2434-2436)Gtt>Ctt	p.V812L		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	812						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTGTATCAACCGGGAATGTT	0.398000													24	65					0	0	0.309145	0	0
CPA5	93979	broad.mit.edu	37	7	129986367	129986367	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:129986367C>G	ENST00000485477.1	+	2	1170	c.41C>G	c.(40-42)tCc>tGc	p.S14C	CPA5_ENST00000474905.1_Missense_Mutation_p.S14C|CPA5_ENST00000466363.2_Missense_Mutation_p.S14C|CPA5_ENST00000461828.1_Missense_Mutation_p.S14C|CPA5_ENST00000431780.2_Missense_Mutation_p.S14C|CPA5_ENST00000393213.3_Missense_Mutation_p.S14C|CPA5_ENST00000355388.3_Missense_Mutation_p.S14C			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	14					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCTGGGCCATCCCCCGTGGAC	0.632000													21	55					0	0	0.324025	0	0
BLK	640	broad.mit.edu	37	8	11412861	11412861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:11412861C>T	ENST00000259089.4	+	8	1232	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	BLK_ENST00000529894.1_Nonsense_Mutation_p.Q143*	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	214	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TGGTCTATGCCAGAGGCTGAC	0.602000													14	58					0	0	0.119110	0	0
OR10X1	128367	broad.mit.edu	37	1	158549500	158549500	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:158549500G>T	ENST00000368150.1	-	1	189	c.190C>A	c.(190-192)Cta>Ata	p.L64I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACCCAAGTTAGACCCATGATG	0.473000													8	65					3.51602e-12	5.62841e-12	0.204396	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118231325	118231325	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:118231325C>A	ENST00000369230.3	+	10	1252	c.1106C>A	c.(1105-1107)aCt>aAt	p.T369N		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	369	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGCGAAGTCACTCAAGGAACT	0.458000													31	64					3.77016e-25	6.94052e-25	0.312237	1	0
NCSTN	23385	broad.mit.edu	37	1	160326918	160326918	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:160326918G>T	ENST00000368063.1	+	17	2102	c.1822G>T	c.(1822-1824)Gcc>Tcc	p.A608S	NCSTN_ENST00000392212.4_Missense_Mutation_p.A608S|NCSTN_ENST00000368065.4_Missense_Mutation_p.A370S|NCSTN_ENST00000535857.1_Missense_Mutation_p.A490S|NCSTN_ENST00000294785.5_Missense_Mutation_p.A628S			Q92542	NICA_HUMAN	nicastrin	628					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|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|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCACGATTAGCCAGGGCCTT	0.527000													23	83					2.21704e-12	3.57729e-12	0.264190	1	0
MLPH	79083	broad.mit.edu	37	2	238419635	238419635	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:238419635C>A	ENST00000264605.3	+	4	630	c.336C>A	c.(334-336)gtC>gtA	p.V112V	MLPH_ENST00000445024.2_Silent_p.V112V|MLPH_ENST00000410032.1_Silent_p.V112V|MLPH_ENST00000338530.4_Silent_p.V112V|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Silent_p.V112V	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	112	RabBD.						metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CCTGCAGAGTCGTGAAGATCG	0.567000													37	160					9.8876e-21	1.77977e-20	0.214465	1	0
STK11	6794	broad.mit.edu	37	19	1221340	1221340	+	Splice_Site	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:1221340G>T	ENST00000326873.7	+	6	2035		c.e6+1			NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGAAAGGTGGGAGCCTC	0.622000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			3	9					0.004672	0.00507282	0.115264	1	0
USP37	57695	broad.mit.edu	37	2	219423437	219423437	+	Translation_Start_Site	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:219423437G>T	ENST00000454775.1	-	0	356				USP37_ENST00000418019.1_Intron|USP37_ENST00000338465.5_Intron|USP37_ENST00000415516.1_Intron|USP37_ENST00000258399.3_Intron			Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37						ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTACCTGGCAGGTTCTAAGGA	0.328000													12	36					2.80697e-09	4.14899e-09	0.080935	1	0
CDH23	64072	broad.mit.edu	37	10	73544070	73544070	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:73544070G>A	ENST00000224721.6	+	41	5415	c.5410G>A	c.(5410-5412)Ggg>Agg	p.G1804R		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1799	Cadherin 17.		R -> Q (in dbSNP:rs3802711).		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCCTGTGGAGGGGGTGCTAAG	0.622000													6	29					0	0	0.217242	0	0
CHIT1	1118	broad.mit.edu	37	1	203191396	203191396	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:203191396G>T	ENST00000367229.1	-	7	697	c.663C>A	c.(661-663)gtC>gtA	p.V221V	CHIT1_ENST00000255427.3_Silent_p.V202V|CHIT1_ENST00000535569.1_Silent_p.V212V|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	221					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TATGTCCCGTGACCTTCTCCC	0.567000													7	44					1.76689e-08	2.50207e-08	0.335167	1	0
LFNG	3955	broad.mit.edu	37	7	2565073	2565073	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:2565073A>T	ENST00000222725.5	+	4	627	c.607A>T	c.(607-609)Aac>Tac	p.N203Y	LFNG_ENST00000359574.3_Missense_Mutation_p.N203Y|LFNG_ENST00000338732.3_Missense_Mutation_p.N74Y|LFNG_ENST00000402506.1_Missense_Mutation_p.N132Y|LFNG_ENST00000402045.1_Missense_Mutation_p.N74Y	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	203					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GGACGATGACAACTACGTCAA	0.706000													13	22					0	0	0.105934	0	0
CDH12	1010	broad.mit.edu	37	5	21752203	21752203	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:21752203C>A	ENST00000382254.1	-	15	3114	c.2028G>T	c.(2026-2028)ggG>ggT	p.G676G	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Silent_p.G676G|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Silent_p.G636G	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	676					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						TTCTCAGAGCCCCGATGTCGA	0.468000										HNSCC(59;0.17)			13	75					1.36491e-13	2.26553e-13	0.105934	1	0
IQGAP2	10788	broad.mit.edu	37	5	75998366	75998366	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:75998366G>C	ENST00000274364.6	+	35	4862	c.4565G>C	c.(4564-4566)aGa>aCa	p.R1522T	IQGAP2_ENST00000396234.3_Missense_Mutation_p.R1018T|IQGAP2_ENST00000502745.1_Missense_Mutation_p.R1018T|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R1024T	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1522					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTCGATGTAAGATCAAAATTC	0.328000													4	37					0	0	0.150653	0	0
RICTOR	253260	broad.mit.edu	37	5	38968050	38968050	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:38968050C>A	ENST00000357387.3	-	12	1085	c.1055G>T	c.(1054-1056)aGt>aTt	p.S352I	RICTOR_ENST00000296782.5_Missense_Mutation_p.S352I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	352					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTTACCTACACTGAGTAGTGC	0.318000													4	71					0.00024832	0.000288993	0.150653	1	0
BRMS1	25855	broad.mit.edu	37	11	66108315	66108315	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:66108315C>A	ENST00000359957.3	-	6	625	c.465G>T	c.(463-465)acG>acT	p.T155T	BRMS1_ENST00000425825.2_Silent_p.T155T	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	155					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CCCCCTGCAGCGTGTCATAGA	0.647000													10	15					3.07112e-06	3.96747e-06	0.080935	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125521627	125521627	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:125521627C>G	ENST00000431078.1	+	16	2797	c.2433C>G	c.(2431-2433)ttC>ttG	p.F811L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	811	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATGCGGAATTCAGTGCCGATA	0.408000													7	67					0	0	0.069234	0	0
DMD	1756	broad.mit.edu	37	X	32632455	32632455	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:32632455G>T	ENST00000357033.4	-	12	1653	c.1447C>A	c.(1447-1449)Ctt>Att	p.L483I	DMD_ENST00000378677.2_Missense_Mutation_p.L479I|DMD_ENST00000288447.4_Missense_Mutation_p.L475I	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	483					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)				AGGTCTTCAAGATCAGGTCCA	0.393000													11	15					4.36969e-10	6.62818e-10	0.105934	1	0
MUC16	94025	broad.mit.edu	37	19	9024902	9024902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:9024902C>T	ENST00000397910.4	-	16	37163	c.36960G>A	c.(36958-36960)tgG>tgA	p.W12320*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12322	SEA 2.				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						TGCTTAGCTCCCAGTACAGCT	0.562000													9	69					0	0	0.307466	0	0
C6orf118	168090	broad.mit.edu	37	6	165715488	165715488	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:165715488G>A	ENST00000543069.1	-	2	592	c.11C>T	c.(10-12)gCc>gTc	p.A4V	C6orf118_ENST00000230301.8_Missense_Mutation_p.A108V			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	108										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GTGGGCCAGGGCCTCCTTCAT	0.667000													17	39					0	0	0.160694	0	0
MYH8	4626	broad.mit.edu	37	17	10309708	10309708	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:10309708C>A	ENST00000403437.2	-	20	2272	c.2178G>T	c.(2176-2178)aaG>aaT	p.K726N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	726	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATTTAAAACCTTGTATCTGC	0.353000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				5	29					0.000602214	0.000683184	0.184627	1	0
EVPL	2125	broad.mit.edu	37	17	74019390	74019390	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:74019390C>A	ENST00000301607.3	-	4	716	c.463G>T	c.(463-465)Gtg>Ttg	p.V155L	EVPL_ENST00000586740.1_Missense_Mutation_p.V155L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	155	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCTCCAGCACGCGTGCCCAG	0.612000													24	56					8.58068e-18	1.51095e-17	0.353513	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187703837	187703837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:187703837G>A	ENST00000295131.2	-	4	382	c.343C>T	c.(343-345)Cga>Tga	p.R115*		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	115					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTTTGAACTCGATGTATCCCC	0.393000													8	161					0	0	0.307466	0	0
SNRNP200	23020	broad.mit.edu	37	2	96947657	96947657	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:96947657G>T	ENST00000323853.5	-	35	4996	c.4919C>A	c.(4918-4920)gCt>gAt	p.A1640D	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1640	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CACCTGGATAGCCCCTGAGCA	0.592000													3	54					0.004672	0.00507282	0.115264	1	0
ST8SIA2	8128	broad.mit.edu	37	15	92988137	92988137	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:92988137C>A	ENST00000268164.3	+	5	1057	c.820C>A	c.(820-822)Cgc>Agc	p.R274S	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.R253S	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	274					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCCCTCGCTGCGCCTGCTGCA	0.627000													10	68					3.86212e-05	4.74707e-05	0.069234	1	0
CLSTN3	9746	broad.mit.edu	37	12	7288097	7288097	+	Silent	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:7288097C>G	ENST00000537408.1	+	3	1132	c.594C>G	c.(592-594)ctC>ctG	p.L198L	CLSTN3_ENST00000266546.6_Silent_p.L186L			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	186	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ATGAGATTCTCACACCCAACA	0.582000													3	68					0	0	0.115264	0	0
ESPL1	9700	broad.mit.edu	37	12	53680397	53680397	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:53680397G>T	ENST00000257934.4	+	18	3968	c.3877G>T	c.(3877-3879)Ggc>Tgc	p.G1293C	ESPL1_ENST00000552462.1_Missense_Mutation_p.G1293C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1293					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AAGCTCCTGGGGCTGGCAGCC	0.557000													20	57					7.41877e-09	1.07126e-08	0.234183	1	0
DNAH7	56171	broad.mit.edu	37	2	196753131	196753131	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:196753131C>A	ENST00000312428.6	-	33	5357	c.5257G>T	c.(5257-5259)Gag>Tag	p.E1753*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1753	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGTGAGGCTCCATGTAAATC	0.393000													4	34					0.00909568	0.0097325	0.150653	1	0
DISC1	27185	broad.mit.edu	37	1	231829612	231829612	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:231829612G>A	ENST00000439617.2	+	2	161	c.108G>A	c.(106-108)agG>agA	p.R36R	DISC1_ENST00000535983.1_Silent_p.R36R|DISC1_ENST00000539444.1_Silent_p.R36R|DISC1_ENST00000366636.4_Silent_p.R36R|DISC1_ENST00000366633.3_Silent_p.R36R|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000317586.4_Silent_p.R36R|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Silent_p.R36R|DISC1_ENST00000602281.1_Silent_p.R36R|DISC1_ENST00000366637.3_5'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	36	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	p.R36S(4)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCTTTCGGAGGCGGCGGCTGG	0.597000													6	52					0	0	0.278610	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603084	111603084	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:111603084G>T	ENST00000431670.2	+	2	571	c.160G>T	c.(160-162)Gac>Tac	p.D54Y	PHLDB2_ENST00000481953.1_Missense_Mutation_p.D54Y|PHLDB2_ENST00000477695.1_Missense_Mutation_p.D54Y|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D54Y|PHLDB2_ENST00000393923.3_Missense_Mutation_p.D81Y|PHLDB2_ENST00000393925.3_Missense_Mutation_p.D54Y|PHLDB2_ENST00000478922.1_Missense_Mutation_p.D54Y	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	54						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGCCAATGGAGACTATTCTGG	0.478000													22	120					5.45024e-15	9.23576e-15	0.279207	1	0
GPSM2	29899	broad.mit.edu	37	1	109439559	109439559	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:109439559G>A	ENST00000406462.1	+	4	903	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.V44M			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	44					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CCGCGCTGGCGTGTCATTCTT	0.438000													25	132					0	0	0.264190	0	0
CASK	8573	broad.mit.edu	37	X	41519762	41519762	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:41519762C>A	ENST00000318588.9	-	8	806	c.761G>T	c.(760-762)cGt>cTt	p.R254L	CASK_ENST00000442742.2_Missense_Mutation_p.R254L|CASK_ENST00000361962.4_Missense_Mutation_p.R254L|CASK_ENST00000421587.2_Missense_Mutation_p.R254L|CASK_ENST00000378154.1_Missense_Mutation_p.R254L|CASK_ENST00000378158.1_Missense_Mutation_p.R254L|CASK_ENST00000378163.1_Missense_Mutation_p.R254L|CASK_ENST00000378166.4_Missense_Mutation_p.R254L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	254	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CAGCATGCGACGTACTAGGTC	0.448000													3	15					0.004672	0.00507282	0.115264	1	0
CCDC74A	90557	broad.mit.edu	37	2	132290238	132290238	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:132290238G>T	ENST00000295171.6	+	5	898	c.760G>T	c.(760-762)Gcg>Tcg	p.A254S	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.A188S	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	254										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGATGGGGGCGGGGGCACA	0.597000													18	103					7.45023e-12	1.17865e-11	0.219247	1	0
PEX5L	51555	broad.mit.edu	37	3	179605466	179605466	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:179605466G>T	ENST00000467460.1	-	4	635	c.305C>A	c.(304-306)aCa>aAa	p.T102K	PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.T59K|PEX5L_ENST00000485199.1_Missense_Mutation_p.T67K|PEX5L_ENST00000476138.1_Missense_Mutation_p.T59K|PEX5L_ENST00000472994.1_Missense_Mutation_p.T43K|PEX5L_ENST00000465751.1_Missense_Mutation_p.T78K|PEX5L_ENST00000464614.1_Missense_Mutation_p.T59K|PEX5L_ENST00000263962.8_Missense_Mutation_p.T100K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	102					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATTACCAGCTGTATTGGATGT	0.378000													33	122					1.34939e-06	1.78014e-06	0.183431	1	0
RANBP6	26953	broad.mit.edu	37	9	6015239	6015239	+	Silent	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:6015239C>G	ENST00000259569.5	-	1	379	c.369G>C	c.(367-369)gtG>gtC	p.V123V	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	123					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCCTGGCCAGCACTGCAAAAA	0.408000													3	39					0	0	0.150653	0	0
BTBD11	121551	broad.mit.edu	37	12	108010913	108010913	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:108010913C>A	ENST00000280758.5	+	8	2577	c.2049C>A	c.(2047-2049)ggC>ggA	p.G683G	BTBD11_ENST00000420571.2_Silent_p.G683G|BTBD11_ENST00000357167.4_Silent_p.G220G|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Silent_p.G683G	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	683						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGAGCATGGCGAGGAGAACT	0.612000													32	56					4.39465e-27	8.23996e-27	0.173368	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904080	144904080	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:144904080G>C	ENST00000370490.1	+	1	4392	c.137G>C	c.(136-138)tGt>tCt	p.C46S	SLITRK2_ENST00000447897.2_Missense_Mutation_p.C46S|SLITRK2_ENST00000413937.2_Missense_Mutation_p.C46S|SLITRK2_ENST00000428560.2_Missense_Mutation_p.C46S|SLITRK2_ENST00000434188.2_Missense_Mutation_p.C46S			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	46						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AATATCAACTGTGAGAACAAA	0.453000													10	25					0	0	0.335167	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323003	61323003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr18:61323003G>T	ENST00000283752.5	-	8	1204	c.1061C>A	c.(1060-1062)tCa>tAa	p.S354*	SERPINB3_ENST00000332821.8_Nonsense_Mutation_p.S302*|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	354		Reactive bond.			regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AGTAGGTGATGATCCGAATCC	0.478000													19	46					4.96729e-08	6.91324e-08	0.204396	1	0
CORIN	10699	broad.mit.edu	37	4	47663870	47663870	+	Silent	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:47663870T>A	ENST00000273857.4	-	12	1592	c.1593A>T	c.(1591-1593)gcA>gcT	p.A531A	CORIN_ENST00000508498.1_Silent_p.A392A|CORIN_ENST00000505909.1_Silent_p.A494A|CORIN_ENST00000504584.1_Silent_p.A494A|CORIN_ENST00000502252.1_Silent_p.A464A	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	531	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTTCACACAATGCCCTAGATG	0.398000													13	32					0	0	0.093190	0	0
ZNF648	127665	broad.mit.edu	37	1	182026781	182026781	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:182026781G>A	ENST00000339948.3	-	2	572	c.365C>T	c.(364-366)gCt>gTt	p.A122V		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGAACCCAGAGCTCTGCTTGC	0.562000													4	72					0	0	0.150653	0	0
RFC2	5982	broad.mit.edu	37	7	73664086	73664086	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:73664086G>C	ENST00000055077.3	-	3	268	c.208C>G	c.(208-210)Ccc>Gcc	p.P70A	RFC2_ENST00000352131.3_Missense_Mutation_p.P70A	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	70					cell cycle checkpoint|DNA strand elongation involved in DNA replication|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	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						ATGATGTTGGGCACATTTCCT	0.463000													7	50					0	0	0.335167	0	0
MS4A14	84689	broad.mit.edu	37	11	60183159	60183159	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:60183159T>A	ENST00000300187.6	+	5	995	c.718T>A	c.(718-720)Tct>Act	p.S240T	MS4A14_ENST00000531783.1_Missense_Mutation_p.S273T|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.S128T|MS4A14_ENST00000395005.2_Missense_Mutation_p.S223T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	240						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TATCCTTCCATCTCCCAAATT	0.388000													41	55					0	0	0.279185	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768680	140768680	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:140768680G>T	ENST00000519479.1	+	1	1229	c.1229G>T	c.(1228-1230)cGc>cTc	p.R410L	PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCTAGACCGCGAGCAGAAT	0.433000													13	84					4.3838e-07	5.88869e-07	0.105934	1	0
PIK3CG	5294	broad.mit.edu	37	7	106508431	106508431	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:106508431C>A	ENST00000359195.3	+	2	735	c.425C>A	c.(424-426)cCg>cAg	p.P142Q	PIK3CG_ENST00000440650.2_Missense_Mutation_p.P142Q|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P142Q	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	142					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAGCGGCACCCGCCCTCCGAG	0.637000													5	22					0.000602214	0.000683184	0.184627	1	0
ZFP42	132625	broad.mit.edu	37	4	188924555	188924555	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:188924555G>T	ENST00000326866.4	+	4	1002	c.594G>T	c.(592-594)aaG>aaT	p.K198N	ZFP42_ENST00000509524.1_Missense_Mutation_p.K198N	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	198					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GCACTAGGAAGTTGAGGAATA	0.488000													12	63					2.80697e-09	4.14899e-09	0.080935	1	0
OR2L3	391192	broad.mit.edu	37	1	248223986	248223986	+	Translation_Start_Site	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:248223986G>T	ENST00000359959.3	+	1	3	c.3G>T	c.(1-3)atG>atT	p.M1I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			AATGCCCCATGGAAAATTACA	0.408000													71	121					1.1794e-34	2.22685e-34	0.323286	1	0
WISP1	8840	broad.mit.edu	37	8	134232832	134232832	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:134232832G>T	ENST00000250160.6	+	3	464	c.358G>T	c.(358-360)Ggt>Tgt	p.G120C	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	120					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGAGGTGGTCGGTGTGGGCTG	0.647000													7	44					5.18039e-06	6.62894e-06	0.278610	1	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													3	67					0	0	0.115264	0	0
TFCP2	7024	broad.mit.edu	37	12	51495754	51495754	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:51495754G>T	ENST00000307660.4	-	10	1682	c.962C>A	c.(961-963)gCa>gAa	p.A321E	TFCP2_ENST00000548115.1_Missense_Mutation_p.A321E|TFCP2_ENST00000257915.5_Missense_Mutation_p.A372E|TFCP2_ENST00000549867.1_Intron	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	372	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GATTCCATCTGCAGGGCCACA	0.338000													17	84					5.03518e-11	7.84327e-11	0.189662	1	0
SOGA2	23255	broad.mit.edu	37	18	8784569	8784569	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr18:8784569G>T	ENST00000359865.3	+	6	1601	c.1459G>T	c.(1459-1461)Ggt>Tgt	p.G487C	SOGA2_ENST00000306329.11_Missense_Mutation_p.G847C|SOGA2_ENST00000400050.3_Missense_Mutation_p.G487C|SOGA2_ENST00000517570.1_Missense_Mutation_p.G487C|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	838								p.G487C(1)									GCTGCGGGGTGGTGCGCCCTT	0.667000													48	53					4.0306e-16	6.94635e-16	0.323286	1	0
PUS7L	83448	broad.mit.edu	37	12	44139883	44139883	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:44139883C>T	ENST00000416848.2	-	4	1717	c.1229G>A	c.(1228-1230)aGg>aAg	p.R410K	PUS7L_ENST00000551923.1_Missense_Mutation_p.R410K|PUS7L_ENST00000431332.3_Missense_Mutation_p.R97K|PUS7L_ENST00000344862.5_Missense_Mutation_p.R410K	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	410					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AATTCTCTCCCTCAGGTTTGC	0.338000													5	57					0	0	0.184627	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078391	107078391	+	RNA	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:107078391G>T	ENST00000390628.2	-	0	393																											AGTAATACACGGCCGTGTCCT	0.542000													8	156					0.00307968	0.00338472	0.278610	1	0
GRIK3	2899	broad.mit.edu	37	1	37337920	37337920	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:37337920G>A	ENST00000373091.3	-	4	617	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	GRIK3_ENST00000373093.4_Missense_Mutation_p.R201C	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	201					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATCTTCAGGCGGATGTTGTAT	0.562000													17	37					0	0	0.146539	0	0
LRP1B	53353	broad.mit.edu	37	2	141819697	141819697	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:141819697C>T	ENST00000389484.3	-	8	2130	c.1159G>A	c.(1159-1161)Gta>Ata	p.V387I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	387					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAAGATCTACCCAGTAAACC	0.408000										TSP Lung(27;0.18)			17	95					0	0	0.189662	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521699	125521699	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:125521699A>T	ENST00000431078.1	+	16	2869	c.2505A>T	c.(2503-2505)aaA>aaT	p.K835N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	835	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGGCATTAAAGACTTCATTC	0.373000													16	58					0	0	0.146539	0	0
RNF165	494470	broad.mit.edu	37	18	44013278	44013278	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr18:44013278G>T	ENST00000269439.7	+	2	238	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	63							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GTCGCAGCCAGGCCTCAGCGC	0.731000													5	10					1.23904e-05	1.5488e-05	0.184627	1	0
KIF2B	84643	broad.mit.edu	37	17	51901748	51901748	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:51901748G>C	ENST00000268919.4	+	1	1510	c.1354G>C	c.(1354-1356)Gaa>Caa	p.E452Q		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	452	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCTGGGAATGAAAGAGGAGC	0.488000													4	34					0	0	0.184627	0	0
GBP6	163351	broad.mit.edu	37	1	89848331	89848331	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:89848331A>G	ENST00000370456.4	+	8	1354	c.1261A>G	c.(1261-1263)Atc>Gtc	p.I421V	GBP6_ENST00000535065.1_Missense_Mutation_p.I291V	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	421							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AATGGAAAGTATCTCAGCAGG	0.438000													10	34					0	0	0.335167	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432631	73432631	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:73432631C>G	ENST00000263666.4	-	10	3200	c.3086G>C	c.(3085-3087)aGg>aCg	p.R1029T	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R751T|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R686T|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R686T|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R746T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1029							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTTCTTATTCCTCTTCTTCAT	0.458000													16	209					0	0	0.132662	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043523	71043523	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:71043523T>A	ENST00000272367.2	-	4	1066	c.990A>T	c.(988-990)gaA>gaT	p.E330D	CLEC4F_ENST00000426626.1_Missense_Mutation_p.E330D	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	330					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						ACACGTGAATTTCATCACCAG	0.423000													24	83					0	0	0.324025	0	0
AHNAK	79026	broad.mit.edu	37	11	62290506	62290506	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:62290506C>A	ENST00000378024.4	-	5	11657	c.11383G>T	c.(11383-11385)Gtt>Ttt	p.V3795F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3795					nervous system development	nucleus	protein binding	p.V3795F(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCCTTGAACATCAACATCT	0.512000													108	146					3.59399e-54	6.8821e-54	0.323286	1	0
MCHR2	84539	broad.mit.edu	37	6	100390939	100390939	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:100390939C>A	ENST00000281806.2	-	4	787	c.473G>T	c.(472-474)tGg>tTg	p.W158L	MCHR2_ENST00000369212.1_Missense_Mutation_p.W158L|MCHR2_ENST00000445970.1_Missense_Mutation_p.W158L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	158						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGAAGCTGCCCAAAGGCCCAA	0.483000													5	85					1.06961e-07	1.46597e-07	0.278610	1	0
CWC27	10283	broad.mit.edu	37	5	64084801	64084801	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:64084801G>T	ENST00000508024.1	+	7	824	c.623G>T	c.(622-624)gGa>gTa	p.G208V	CWC27_ENST00000381070.3_Missense_Mutation_p.G208V			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	208					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						CTTTCATTTGGAGAGGAAGCT	0.313000													11	44					0.00010058	0.000119457	0.093190	1	0
DSG3	1830	broad.mit.edu	37	18	29054110	29054110	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr18:29054110G>T	ENST00000257189.4	+	15	2211	c.2128G>T	c.(2128-2130)Ggc>Tgc	p.G710C		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	710					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTATGCCAGAGGCACAGCGGT	0.443000													5	29					3.59834e-05	4.4363e-05	0.217242	1	0
CARD11	84433	broad.mit.edu	37	7	2974224	2974224	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:2974224C>A	ENST00000396946.4	-	10	1784	c.1381G>T	c.(1381-1383)Gac>Tac	p.D461Y		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	461					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCCCAAAGTCCTGAGAGATG	0.572000			Mis		DLBCL								6	45					0.00198382	0.00220122	0.248553	1	0
LEFTY1	10637	broad.mit.edu	37	1	226075248	226075248	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:226075248C>A	ENST00000432920.2	-	7	1080	c.913G>T	c.(913-915)Gct>Tct	p.A305S	LEFTY1_ENST00000272134.5_Silent_p.P196P																							GTAGCAGCAGCGGCTGCCGGG	0.706000													6	23					0.00307968	0.00338472	0.278610	1	0
ACTA1	58	broad.mit.edu	37	1	229567510	229567510	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:229567510C>G	ENST00000366684.3	-	6	1050	c.948G>C	c.(946-948)caG>caC	p.Q316H	ACTA1_ENST00000366683.2_Missense_Mutation_p.Q228H	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	316					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGATCTCTTTCTGCATGCGGT	0.617000													4	72					0	0	0.150653	0	0
SH3TC2	79628	broad.mit.edu	37	5	148422262	148422262	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:148422262T>A	ENST00000515425.1	-	5	625	c.524A>T	c.(523-525)cAg>cTg	p.Q175L	SH3TC2_ENST00000512049.1_Missense_Mutation_p.Q168L|SH3TC2_ENST00000394358.2_Missense_Mutation_p.Q60L	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	175							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCTTCCTGTATCAGGAG	0.443000													33	46					0	0	0.214465	0	0
RGS9	8787	broad.mit.edu	37	17	63206645	63206645	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:63206645C>A	ENST00000449996.3	+	17	1392	c.1320C>A	c.(1318-1320)agC>agA	p.S440R	RGS9_ENST00000262406.9_Missense_Mutation_p.S443R|RGS9_ENST00000443584.3_Missense_Mutation_p.S440R	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	443					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGCGCTCCAGCCCAAGCCCTG	0.582000													11	46					4.36969e-10	6.62818e-10	0.105934	1	0
KARS	3735	broad.mit.edu	37	16	75665353	75665353	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:75665353C>A	ENST00000319410.5	-	10	1418	c.1297G>T	c.(1297-1299)Ggg>Tgg	p.G433W	KARS_ENST00000302445.3_Missense_Mutation_p.G405W|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	405					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	AGCTTCATCCCCAGGGCTTTC	0.522000													18	57					1.37522e-17	2.41111e-17	0.189662	1	0
UHMK1	127933	broad.mit.edu	37	1	162492234	162492234	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:162492234C>T	ENST00000489294.1	+	8	1312	c.1154C>T	c.(1153-1155)gCg>gTg	p.A385V	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_3'UTR|UHMK1_ENST00000545294.1_Missense_Mutation_p.A311V	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	385	RRM.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCCAAAGCTGCGCAGAAATTA	0.418000													30	81					0	0	0.163468	0	0
INSRR	3645	broad.mit.edu	37	1	156814510	156814510	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:156814510G>T	ENST00000368195.3	-	13	2959	c.2563C>A	c.(2563-2565)Cgc>Agc	p.R855S	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	855	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCTCCCAAGCGGCGGTACTTG	0.622000													32	40					3.93418e-24	7.2097e-24	0.203993	1	0
TPTE	7179	broad.mit.edu	37	21	10933934	10933934	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr21:10933934C>T	ENST00000298232.7	-	16	1258	c.891G>A	c.(889-891)atG>atA	p.M297I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.M315I|TPTE_ENST00000342420.5_Missense_Mutation_p.M277I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	315	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAAAACCACCATCTGACTGA	0.333000													28	225					0	0	0.134883	0	0
SCLT1	132320	broad.mit.edu	37	4	129809853	129809853	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:129809853G>A	ENST00000281142.5	-	20	2488	c.1985C>T	c.(1984-1986)gCt>gTt	p.A662V	SCLT1_ENST00000439369.2_Missense_Mutation_p.A149V|SCLT1_ENST00000503215.1_Missense_Mutation_p.A258V|SCLT1_ENST00000434680.1_Missense_Mutation_p.A281V|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	662						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AGCTGAAGCAGCTCTCTCTTC	0.388000													12	75					0	0	0.119110	0	0
PLOD3	8985	broad.mit.edu	37	7	100853846	100853846	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:100853846C>A	ENST00000223127.3	-	13	1865	c.1467G>T	c.(1465-1467)ccG>ccT	p.P489P		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	489					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGGCCATGTCCGGGTCTGTGT	0.617000													4	44					0.150653	0.154663	0.150653	1	0
C17orf74	201243	broad.mit.edu	37	17	7330220	7330220	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:7330220G>T	ENST00000333870.3	+	3	984	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	304						integral to membrane		p.G304S(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCCCTCAGTGGGCTGGATGCT	0.697000													9	37					0.000274275	0.00031783	0.307466	1	0
CSMD3	114788	broad.mit.edu	37	8	113349926	113349926	+	Silent	SNP	C	C	A	rs142738941		TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:113349926C>A	ENST00000297405.5	-	43	6931	c.6687G>T	c.(6685-6687)ccG>ccT	p.P2229P	CSMD3_ENST00000343508.3_Silent_p.P2189P|CSMD3_ENST00000455883.2_Silent_p.P2125P|CSMD3_ENST00000352409.3_Silent_p.P2159P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2229	Sushi 12.					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						CATTTCGAAACGGGCGTGGAT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	64					0.000566183	0.000653288	0.160694	1	0
XYLT1	64131	broad.mit.edu	37	16	17202798	17202798	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:17202798G>T	ENST00000261381.6	-	12	2718	c.2634C>A	c.(2632-2634)gtC>gtA	p.V878V		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	878					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCAGGCTGAGGACGGGGTTTA	0.622000													16	50					1.45105e-14	2.44356e-14	0.175082	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216002	20216002	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:20216002C>A	ENST00000331723.1	+	1	416	c.416C>A	c.(415-417)cCc>cAc	p.P139H		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCATGAACCCCCAGCTATGC	0.502000													6	82					0.00198382	0.00220122	0.248553	1	0
TMC3	342125	broad.mit.edu	37	15	81637142	81637142	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:81637142G>T	ENST00000558726.1	-	13	1621	c.1486C>A	c.(1486-1488)Cca>Aca	p.P496T	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.P495T			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	495						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGGTCTTGTGGACTCTGAGTG	0.483000													7	34					0.248553	0.252607	0.248553	1	0
TRIM2	23321	broad.mit.edu	37	4	154249741	154249741	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:154249741G>A	ENST00000338700.5	+	11	2147	c.2082G>A	c.(2080-2082)ggG>ggA	p.G694G	TRIM2_ENST00000437508.2_Silent_p.G667G	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	667						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AAGGAAATGGGCAGTTTAATG	0.378000													6	29					0	0	0.248553	0	0
SLC17A6	57084	broad.mit.edu	37	11	22397560	22397560	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:22397560G>C	ENST00000263160.3	+	10	1644	c.1207G>C	c.(1207-1209)Gtt>Ctt	p.V403L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	403					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GCTCCTGGTCGTTGGCTATTC	0.378000													14	47					0	0	0.132662	0	0
PDS5A	23244	broad.mit.edu	37	4	39839704	39839704	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:39839704C>A	ENST00000303538.8	-	32	4321	c.3782G>T	c.(3781-3783)gGa>gTa	p.G1261V		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1261					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GGCGGGAGGTCCCGATTCATC	0.458000													5	12					0.000602214	0.000683184	0.184627	1	0
SLC16A6	9120	broad.mit.edu	37	17	66268785	66268785	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:66268785G>A	ENST00000327268.4	-	5	664	c.500C>T	c.(499-501)gCa>gTa	p.A167V	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.A167V	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	167						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CCTACCTGGTGCGAAAGCAAA	0.448000													7	62					0	0	0.307466	0	0
KIAA0947	23379	broad.mit.edu	37	5	5447972	5447972	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:5447972C>A	ENST00000296564.7	+	10	788	c.566C>A	c.(565-567)aCa>aAa	p.T189K	KIAA0947_ENST00000512608.1_3'UTR	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	189										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CATATTGGAACACAAATTTCA	0.308000													4	4					0.184627	0.188348	0.184627	1	0
SYT10	341359	broad.mit.edu	37	12	33532808	33532808	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:33532808A>T	ENST00000228567.3	-	6	1755	c.1459T>A	c.(1459-1461)Tat>Aat	p.Y487N	SYT10_ENST00000535526.1_Missense_Mutation_p.Y306N	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	487						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTCGATGATAGGCCAGCATT	0.458000													18	133					0	0	0.189662	0	0
OVGP1	5016	broad.mit.edu	37	1	111957412	111957412	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:111957412G>A	ENST00000369732.3	-	11	1766	c.1711C>T	c.(1711-1713)Cgt>Tgt	p.R571C		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	571					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	p.R635S(1)|p.R571S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ACCTTTTCACGGGCCACAGCC	0.522000													25	90					0	0	0.309145	0	0
SPTLC3	55304	broad.mit.edu	37	20	13107323	13107323	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:13107323G>A	ENST00000399002.2	+	9	1512	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	413					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CAAATCATCAGATCACTAAAA	0.478000													5	203					0	0	0.184627	0	0
OR7G3	390883	broad.mit.edu	37	19	9237033	9237033	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:9237033C>A	ENST00000305444.2	-	1	593	c.594G>T	c.(592-594)ctG>ctT	p.L198L		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCAAATACACCAGGATGTTAT	0.443000													20	32					3.99206e-14	6.68092e-14	0.189662	1	0
SPEG	10290	broad.mit.edu	37	2	220346034	220346034	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:220346034G>C	ENST00000312358.7	+	27	5510	c.5378G>C	c.(5377-5379)gGa>gCa	p.G1793A	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1793	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGTCTGACAGGAATCTCCCCG	0.577000													11	67					0	0	0.105934	0	0
ITIH2	3698	broad.mit.edu	37	10	7776944	7776944	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:7776944C>A	ENST00000358415.4	+	15	2013	c.1847C>A	c.(1846-1848)tCt>tAt	p.S616Y	ITIH2_ENST00000379587.4_Missense_Mutation_p.S605Y	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	616					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTGCAGATGTCTCTAGACCAC	0.557000													7	48					2.7689e-08	3.91415e-08	0.248553	1	0
CCL20	6364	broad.mit.edu	37	2	228681090	228681090	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:228681090C>G	ENST00000409189.3	+	3	326	c.256C>G	c.(256-258)Cgt>Ggt	p.R86G	CCL20_ENST00000473642.1_3'UTR|CCL20_ENST00000358813.4_Missense_Mutation_p.R87G	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	87					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		ATATATTGTGCGTCTCCTCAG	0.393000													5	69					0	0	0.184627	0	0
SLC39A6	25800	broad.mit.edu	37	18	33694177	33694177	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr18:33694177G>A	ENST00000269187.5	-	7	1939	c.1726C>T	c.(1726-1728)Cac>Tac	p.H576Y	SLC39A6_ENST00000590986.1_Missense_Mutation_p.H576Y|SLC39A6_ENST00000440549.2_Missense_Mutation_p.H301Y	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	576	His-rich.					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						ctgtgactgtgaggatggtgg	0.527000													5	21					0	0	0.184627	0	0
KMT2D	8085	broad.mit.edu	37	12	49416430	49416430	+	Missense_Mutation	SNP	A	A	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:49416430A>C	ENST00000301067.7	-	51	16280	c.16281T>G	c.(16279-16281)atT>atG	p.I5427M		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGATGGTGCCAATGTACTCGA	0.542000													10	215					0	0	0.080935	0	0
SLC13A1	6561	broad.mit.edu	37	7	122809329	122809329	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:122809329C>A	ENST00000194130.2	-	4	465	c.426G>T	c.(424-426)tcG>tcT	p.S142S	SLC13A1_ENST00000539873.1_Silent_p.S78S	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	142						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)	TGGCAGCCGTCGAGGTGTTGC	0.532000													7	26					1.06961e-07	1.46597e-07	0.278610	1	0
KLHDC8B	200942	broad.mit.edu	37	3	49212227	49212227	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:49212227G>C	ENST00000332780.2	+	4	803	c.594G>C	c.(592-594)gaG>gaC	p.E198D	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	198						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTGATCTGGAGGCCCGTACAT	0.637000													12	31					0	0	0.093190	0	0
FAM150A	389658	broad.mit.edu	37	8	53454952	53454952	+	Splice_Site	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:53454952C>T	ENST00000358543.4	-	2	494	c.244_splice	c.e2+1	p.G82_splice	FAM150A_ENST00000523939.1_Splice_Site_p.G82_splice	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	82						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				TTGTACTTACCTGTGAAATGC	0.308000													6	18					0	0	0.278610	0	0
RPP40	10799	broad.mit.edu	37	6	5002426	5002426	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:5002426C>T	ENST00000380051.2	-	2	221	c.177G>A	c.(175-177)ctG>ctA	p.L59L	RPP40_ENST00000319533.5_Silent_p.L59L|RPP40_ENST00000464646.1_5'UTR	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	59					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TGTTCATGACCAGGTTTTTCA	0.343000													6	102					0	0	0.217242	0	0
CLDN10	9071	broad.mit.edu	37	13	96230177	96230177	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:96230177C>A	ENST00000376873.3	+	5	820	c.590C>A	c.(589-591)tCt>tAt	p.S197Y	CLDN10_ENST00000299339.2_Missense_Mutation_p.S199Y	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	199					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GGGGCCACATCTGTCATGTCT	0.378000													10	21					0.000978159	0.00110658	0.080935	1	0
MOCS1	4337	broad.mit.edu	37	6	39880040	39880040	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:39880040G>A	ENST00000373186.4	-	7	1086	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	MOCS1_ENST00000425303.2_Missense_Mutation_p.R317C|MOCS1_ENST00000373188.2_Missense_Mutation_p.R317C|MOCS1_ENST00000432280.2_Missense_Mutation_p.R288C|MOCS1_ENST00000373175.4_Missense_Mutation_p.R288C|MOCS1_ENST00000373195.3_Missense_Mutation_p.R230C|MOCS1_ENST00000340692.5_Missense_Mutation_p.R317C|MOCS1_ENST00000308559.7_Missense_Mutation_p.R317C	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	317	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATTCGCAGGCGGTTGCAGGTC	0.577000													15	107					0	0	0.146539	0	0
OPN5	221391	broad.mit.edu	37	6	47763200	47763200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:47763200C>A	ENST00000489301.2	+	4	742	c.657C>A	c.(655-657)taC>taA	p.Y219*	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Nonsense_Mutation_p.Y219*|OPN5_ENST00000371211.2_Nonsense_Mutation_p.Y219*			Q6U736	OPN5_HUMAN	opsin 5	219					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGTTCTCCTACGTAAAGATCA	0.512000													17	97					3.51602e-12	5.62841e-12	0.204396	1	0
GPR133	283383	broad.mit.edu	37	12	131439195	131439195	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:131439195G>T	ENST00000261654.5	+	2	652	c.93G>T	c.(91-93)caG>caT	p.Q31H	GPR133_ENST00000535015.1_Missense_Mutation_p.Q31H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	31					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCAGATCGCAGGACCATCCAG	0.567000													7	58					0.00448238	0.00491303	0.307466	1	0
GABRB3	2562	broad.mit.edu	37	15	26806155	26806155	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:26806155C>A	ENST00000541819.2	-	9	1274	c.1172G>T	c.(1171-1173)gGc>gTc	p.G391V	GABRB3_ENST00000299267.4_Missense_Mutation_p.G335V|GABRB3_ENST00000311550.5_Missense_Mutation_p.G335V|GABRB3_ENST00000545868.1_Missense_Mutation_p.G250V|GABRB3_ENST00000400188.3_Missense_Mutation_p.G264V			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	335					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(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTTTGAGGGCCTCTTCCAAA	0.488000													13	69					0.00010058	0.000119457	0.093190	1	0
PDP2	57546	broad.mit.edu	37	16	66918897	66918897	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:66918897G>T	ENST00000311765.2	+	2	1044	c.710G>T	c.(709-711)aGa>aTa	p.R237I	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	237					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TCCTTCCAGAGACTGGATTCT	0.502000													19	32					1.33834e-09	1.99274e-09	0.189662	1	0
GIMAP5	55340	broad.mit.edu	37	7	150439478	150439478	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:150439478C>A	ENST00000358647.3	+	3	618	c.251C>A	c.(250-252)cCc>cAc	p.P84H	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTGACACGCCCTCCATCTTT	0.592000													16	53					1.56452e-12	2.52947e-12	0.189662	1	0
SEMA4A	64218	broad.mit.edu	37	1	156131247	156131247	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:156131247G>T	ENST00000368285.3	+	9	1188	c.921G>T	c.(919-921)gcG>gcT	p.A307A	SEMA4A_ENST00000355014.2_Silent_p.A307A|SEMA4A_ENST00000368282.1_Silent_p.A307A|SEMA4A_ENST00000368284.1_Silent_p.A175A|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Silent_p.A175A	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	307	Sema.			CTQPGQLPFNVIRHAVLLPADSPTAPHIYAVFTSQW -> S APSRGSCPSTSSATRSCSPPILPQLPTSTQSSPPSG (in Ref. 1).	axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCCGCCACGCGGTCCTGCTCC	0.657000													7	55					5.18039e-06	6.62894e-06	0.278610	1	0
IGKV1-5	28299	broad.mit.edu	37	2	89247278	89247278	+	RNA	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:89247278G>T	ENST00000496168.1	-	0	197																											GAGCTGAGCGGGGACCCTCAT	0.557000													33	109					1.47197e-15	2.52071e-15	0.257332	1	0
TMEM143	55260	broad.mit.edu	37	19	48848507	48848507	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:48848507C>A	ENST00000293261.3	-	4	790	c.474G>T	c.(472-474)gaG>gaT	p.E158D	TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000435956.3_Missense_Mutation_p.E123D|TMEM143_ENST00000541566.1_Missense_Mutation_p.E48D|TMEM143_ENST00000377431.2_Intron	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	158						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CCAGCAGGGGCTCCAGAGCCC	0.612000													22	91					7.87624e-14	1.31541e-13	0.264190	1	0
CDH11	1009	broad.mit.edu	37	16	64981687	64981687	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:64981687T>C	ENST00000268603.4	-	13	2825	c.2210A>G	c.(2209-2211)tAt>tGt	p.Y737C	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.Y611C	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	737					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AATGGAGTCATAAGGAGGAGC	0.562000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			21	73					0	0	0.249174	0	0
LYZL6	57151	broad.mit.edu	37	17	34261816	34261816	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:34261816C>T	ENST00000585556.1	-	5	765	c.431G>A	c.(430-432)gGa>gAa	p.G144E	LYZL6_ENST00000394523.3_Missense_Mutation_p.G144E|LYZL6_ENST00000293274.4_Missense_Mutation_p.G144E			O75951	LYZL6_HUMAN	lysozyme-like 6	144					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGGCGGCATCCTGTCAGCCA	0.527000													11	48					0	0	0.105934	0	0
ARID5B	84159	broad.mit.edu	37	10	63850762	63850762	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:63850762C>A	ENST00000279873.7	+	10	1950	c.1540C>A	c.(1540-1542)Cca>Aca	p.P514T	ARID5B_ENST00000309334.5_Missense_Mutation_p.P271T	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	514					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAGAGTAGACCCAGAGAAGGA	0.537000													12	44					3.27435e-08	4.5728e-08	0.119110	1	0
ADCY5	111	broad.mit.edu	37	3	123019029	123019029	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:123019029G>T	ENST00000462833.1	-	15	4050	c.2838C>A	c.(2836-2838)atC>atA	p.I946I	ADCY5_ENST00000309879.5_Silent_p.I596I|ADCY5_ENST00000491190.1_Silent_p.I579I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	946					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCACCTCCACGATGAGCACGT	0.632000													8	42					1.26484e-09	1.89027e-09	0.278610	1	0
KIAA1804	84451	broad.mit.edu	37	1	233497909	233497909	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:233497909G>T	ENST00000366624.3	+	5	1683	c.1422G>T	c.(1420-1422)gtG>gtT	p.V474V	MLK4_ENST00000366623.3_Silent_p.V474V	NM_032435.2	NP_115811.2												p.V474V(1)									AGATCGACGTGCTGGAGCGGG	0.547000													19	21					5.03518e-11	7.84327e-11	0.189662	1	0
OR5L2	26338	broad.mit.edu	37	11	55594749	55594749	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:55594749G>T	ENST00000378397.1	+	1	55	c.55G>T	c.(55-57)Gat>Tat	p.D19Y		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	19					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)				TGGACTATCAGATGTCCCTGA	0.458000										HNSCC(27;0.073)			10	175					2.17888e-05	2.70689e-05	0.335167	1	0
TEX13A	56157	broad.mit.edu	37	X	104463698	104463698	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:104463698C>G	ENST00000413579.1	-	5	1289	c.1178G>C	c.(1177-1179)aGg>aCg	p.R393T	TEX13A_ENST00000372578.3_3'UTR|TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	393						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCAAGTATCCCTCCGTGAAAA	0.493000													32	57					0	0	0.163468	0	0
NGLY1	55768	broad.mit.edu	37	3	25781255	25781255	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:25781255C>A	ENST00000428257.1	-	5	801	c.694G>T	c.(694-696)Gag>Tag	p.E232*	NGLY1_ENST00000396649.3_Nonsense_Mutation_p.E232*|NGLY1_ENST00000422724.2_Intron|NGLY1_ENST00000280700.5_Nonsense_Mutation_p.E232*|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.E190*	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	232					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGCAAAAGCTCCAGCAAAAGA	0.358000													5	34					0.014758	0.0156261	0.184627	1	0
OR2B3	442184	broad.mit.edu	37	6	29054663	29054663	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:29054663G>T	ENST00000377173.2	-	1	427	c.363C>A	c.(361-363)gaC>gaA	p.D121E		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CCACATATCTGTCAAAGGACA	0.493000													12	75					3.07112e-06	3.96747e-06	0.080935	1	0
LILRA4	23547	broad.mit.edu	37	19	54849216	54849216	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:54849216G>T	ENST00000291759.4	-	4	702	c.646C>A	c.(646-648)Ctg>Atg	p.L216M		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	216						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)		CCTGACACCAGTAGCTGCAGG	0.562000													3	30					0.004672	0.00507282	0.115264	1	0
SH3GL3	6457	broad.mit.edu	37	15	84286922	84286922	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:84286922G>A	ENST00000324537.5	+	12	1443	c.951G>A	c.(949-951)ggG>ggA	p.G317G	SH3GL3_ENST00000427482.2_Silent_p.G309G|SH3GL3_ENST00000434347.1_Silent_p.G317G|SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000535412.1_3'UTR			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	309	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TTAAAGAAGGGGACATCATTA	0.423000													19	38					0	0	0.189662	0	0
AP1M1	8907	broad.mit.edu	37	19	16344406	16344406	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:16344406T>A	ENST00000291439.3	+	10	1599	c.1150T>A	c.(1150-1152)Tac>Aac	p.Y384N	AP1M1_ENST00000541844.1_Missense_Mutation_p.Y312N|AP1M1_ENST00000429941.2_Missense_Mutation_p.Y331N|AP1M1_ENST00000590756.1_Missense_Mutation_p.Y312N|AP1M1_ENST00000444449.2_Missense_Mutation_p.Y396N	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	384	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CGAGATCCCTTACTTCACTAC	0.617000													3	5					0	0	0.115264	0	0
PPM1L	151742	broad.mit.edu	37	3	160474394	160474394	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:160474394G>T	ENST00000498165.1	+	1	399	c.298G>T	c.(298-300)Ggc>Tgc	p.G100C	PPM1L_ENST00000497343.1_Missense_Mutation_p.G100C	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	100	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CTCCATCCAGGGCCGGAGAGA	0.597000													7	21					0.0293803	0.0308265	0.248553	1	0
GPR45	11250	broad.mit.edu	37	2	105859262	105859262	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:105859262A>T	ENST00000258456.1	+	1	1063	c.947A>T	c.(946-948)aAg>aTg	p.K316M		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	316						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AGTTACCTCAAGTCCGTCTTC	0.547000													17	127					0	0	0.160694	0	0
C1orf173	127254	broad.mit.edu	37	1	75101995	75101995	+	Missense_Mutation	SNP	A	A	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:75101995A>C	ENST00000326665.5	-	6	790	c.572T>G	c.(571-573)tTg>tGg	p.L191W		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	191										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATTTTCCAGCAATGAGGTTTT	0.348000													4	111					0	0	0.184627	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828172	43828172	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:43828172G>T	ENST00000377564.3	+	9	1821	c.1428G>T	c.(1426-1428)caG>caT	p.Q476H		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	476	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CAGCTGTTCAGCCCCTGGTGG	0.483000													12	48					1.3612e-06	1.78989e-06	0.132662	1	0
COL6A1	1291	broad.mit.edu	37	21	47410685	47410685	+	Splice_Site	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr21:47410685A>T	ENST00000361866.3	+	14	1116		c.e14-1			NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1						axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TCCTCTTTCCAGGGGGAGATG	0.547000													18	37					0	0	0.189662	0	0
RBM5	10181	broad.mit.edu	37	3	50153390	50153390	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:50153390G>C	ENST00000347869.3	+	22	2246	c.2071G>C	c.(2071-2073)Gcc>Ccc	p.A691P		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	691	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGAGCTGGAAGCCTTGGAGCT	0.438000													10	45					0	0	0.069234	0	0
LRP1B	53353	broad.mit.edu	37	2	141625235	141625235	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:141625235C>G	ENST00000389484.3	-	27	5474	c.4503G>C	c.(4501-4503)caG>caC	p.Q1501H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1501					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACTGACATTCTGCCCTGTCC	0.478000										TSP Lung(27;0.18)			3	102					0	0	0.115264	0	0
NALCN	259232	broad.mit.edu	37	13	101710344	101710344	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:101710344G>T	ENST00000251127.6	-	43	5051	c.4970C>A	c.(4969-4971)gCa>gAa	p.A1657E	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1657						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)					TGCGTCGGCTGCATCTTGCCG	0.572000													29	44					3.65163e-15	6.24012e-15	0.338820	1	0
TGM6	343641	broad.mit.edu	37	20	2411674	2411674	+	Splice_Site	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:2411674G>T	ENST00000202625.2	+	12	2028		c.e12+1		TGM6_ENST00000381423.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6						cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.?(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCAGCATCGAGTAAGTGCCAG	0.582000													50	59					6.14515e-18	1.08444e-17	0.323286	1	0
USH2A	7399	broad.mit.edu	37	1	215848654	215848654	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:215848654C>G	ENST00000366943.2	-	63	12985	c.12599G>C	c.(12598-12600)tGg>tCg	p.W4200S	USH2A_ENST00000307340.3_Missense_Mutation_p.W4200S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4200	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W4200S(1)		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)		CTGATTTCCCCAAGCTTTTCC	0.418000										HNSCC(13;0.011)			33	58					0	0	0.193644	0	0
OR5H15	403274	broad.mit.edu	37	3	97888035	97888035	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:97888035C>G	ENST00000356526.2	+	1	492	c.492C>G	c.(490-492)ttC>ttG	p.F164L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GATTTTTATTCAGACTAACCT	0.338000													4	73					0	0	0.184627	0	0
PUS1	80324	broad.mit.edu	37	12	132426239	132426239	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:132426239G>T	ENST00000542167.2	+	4	1541	c.788G>T	c.(787-789)cGc>cTc	p.R263L	PUS1_ENST00000440818.2_Missense_Mutation_p.R288L|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000376649.3_Missense_Mutation_p.R316L|PUS1_ENST00000443358.2_Missense_Mutation_p.R288L			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	316						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		GTGCTGGAGCGCAGCTGGGGC	0.617000													27	75					3.1745e-13	5.22631e-13	0.134883	1	0
DMBT1	1755	broad.mit.edu	37	10	124358499	124358499	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:124358499G>T	ENST00000368909.3	+	26	3272	c.3166G>T	c.(3166-3168)Gtc>Ttc	p.V1056F	DMBT1_ENST00000368956.2_Missense_Mutation_p.V557F|DMBT1_ENST00000330163.4_Missense_Mutation_p.V557F|DMBT1_ENST00000368955.3_Missense_Mutation_p.V1046F|DMBT1_ENST00000344338.3_Missense_Mutation_p.V1046F|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.V1056F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1056	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGGACCCATTGTCCTGGATGA	0.597000													27	147					3.28513e-13	5.39747e-13	0.294199	1	0
NKX2-5	1482	broad.mit.edu	37	5	172659600	172659600	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:172659600G>T	ENST00000329198.4	-	2	1220	c.947C>A	c.(946-948)tCc>tAc	p.S316Y		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	316					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATGCAGCGTGGACACTCCCGA	0.652000													4	23					0.014758	0.0156261	0.184627	1	0
ECE2	9718	broad.mit.edu	37	3	184009934	184009934	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:184009934G>T	ENST00000402825.3	+	19	2560	c.2560G>T	c.(2560-2562)Ggc>Tgc	p.G854C	ECE2_ENST00000357474.5_Missense_Mutation_p.G782C|ECE2_ENST00000404464.3_Missense_Mutation_p.G736C|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.G707C	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	854	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGCGTGCTGGGCACTCTCTC	0.672000													6	58					5.18039e-06	6.62894e-06	0.278610	1	0
FAM83H	286077	broad.mit.edu	37	8	144810850	144810850	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:144810850C>A	ENST00000388913.3	-	5	906	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	261					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCTTGGAACACGTGCGCCAGG	0.662000													9	24					1.58986e-06	2.08044e-06	0.069234	1	0
ADCK3	56997	broad.mit.edu	37	1	227152832	227152832	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:227152832G>A	ENST00000366779.1	+	8	3080	c.309G>A	c.(307-309)gcG>gcA	p.A103A	ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366776.1_Intron|ADCK3_ENST00000366775.1_5'UTR|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366778.1_Silent_p.A51A|ADCK3_ENST00000366777.3_Silent_p.A103A			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	103					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						ACCAGTCAGCGCCCCCATCCC	0.667000													9	54					0	0	0.069234	0	0
NRXN3	9369	broad.mit.edu	37	14	79432593	79432593	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:79432593C>T	ENST00000554719.1	+	9	1993	c.1502C>T	c.(1501-1503)aCc>aTc	p.T501I	NRXN3_ENST00000335750.5_Missense_Mutation_p.T501I	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GACCCTGTCACCTTTAAGACC	0.483000													7	45					0	0	0.248553	0	0
SPTA1	6708	broad.mit.edu	37	1	158607877	158607877	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:158607877G>T	ENST00000368148.3	-	36	5315	c.5135C>A	c.(5134-5136)gCc>gAc	p.A1712D	SPTA1_ENST00000368147.3_Missense_Mutation_p.A1712D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1712					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)					CAAGGCATAGGCCTCTTTCAA	0.418000													35	150					1.71298e-08	2.43851e-08	0.193644	1	0
COL27A1	85301	broad.mit.edu	37	9	116931472	116931472	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:116931472G>A	ENST00000356083.3	+	3	2028	c.1637G>A	c.(1636-1638)gGa>gAa	p.G546E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	546	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AAGAAAGCCGGACCCAAGAGC	0.632000													15	55					0	0	0.119110	0	0
CLEC7A	64581	broad.mit.edu	37	12	10277985	10277985	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:10277985T>A	ENST00000353231.5	-	3	423	c.265A>T	c.(265-267)Agc>Tgc	p.S89C	CLEC7A_ENST00000304084.8_Missense_Mutation_p.S135C|CLEC7A_ENST00000396484.2_Missense_Mutation_p.S56C|CLEC7A_ENST00000298523.5_Missense_Mutation_p.S89C|CLEC7A_ENST00000533022.1_Missense_Mutation_p.S135C	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	135					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						AGTGACATGCTGAATAGATAA	0.393000													11	41					0	0	0.093190	0	0
DLG2	1740	broad.mit.edu	37	11	83585503	83585503	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:83585503G>T	ENST00000398309.2	-	11	1680	c.1210C>A	c.(1210-1212)Cag>Aag	p.Q404K	DLG2_ENST00000531015.1_Missense_Mutation_p.Q371K|DLG2_ENST00000418306.2_Missense_Mutation_p.Q301K|DLG2_ENST00000376104.2_Missense_Mutation_p.Q509K|DLG2_ENST00000280241.8_Missense_Mutation_p.Q443K|DLG2_ENST00000524982.1_Missense_Mutation_p.Q404K|DLG2_ENST00000543673.1_Missense_Mutation_p.Q509K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.Q158K|DLG2_ENST00000330014.6_Missense_Mutation_p.Q343K|DLG2_ENST00000398301.2_Missense_Mutation_p.Q443K|DLG2_ENST00000532653.1_Missense_Mutation_p.Q404K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	404						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)				ATTGAAGGCTGACGAGTTGCG	0.363000													9	30					7.48243e-07	9.96837e-07	0.335167	1	0
AGAP2	116986	broad.mit.edu	37	12	58124650	58124650	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:58124650G>C	ENST00000257897.3	-	11	1309	c.1224C>G	c.(1222-1224)atC>atG	p.I408M	AGAP2_ENST00000547588.1_Missense_Mutation_p.I744M	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	744	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CAAAGGCAGAGATGGCCCTCG	0.572000													6	20					0	0	0.217242	0	0
PAX4	5078	broad.mit.edu	37	7	127251669	127251669	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:127251669C>G	ENST00000341640.2	-	8	1014	c.809G>C	c.(808-810)tGc>tCc	p.C270S	PAX4_ENST00000338516.3_Silent_p.L259L|PAX4_ENST00000463946.1_Missense_Mutation_p.C268S|PAX4_ENST00000378740.2_Missense_Mutation_p.C270S	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	278					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CAGCTGATAGCAGGAGGGACC	0.562000													7	73					0	0	0.248553	0	0
CCDC97	90324	broad.mit.edu	37	19	41822700	41822700	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:41822700G>A	ENST00000269967.3	+	2	580	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	153										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CTGCGTACCCGCCTGCGTAAC	0.682000													5	46					0	0	0.217242	0	0
GJA8	2703	broad.mit.edu	37	1	147380415	147380415	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:147380415G>A	ENST00000240986.4	+	2	386	c.333G>A	c.(331-333)gcG>gcA	p.A111A	GJA8_ENST00000369235.1_Silent_p.A111A	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	111				EA -> D (in Ref. 1; AAA77062).	cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCCGCGAGGCGGAGGAGCTGG	0.657000													11	92					0	0	0.093190	0	0
ATP2B3	492	broad.mit.edu	37	X	152813361	152813361	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:152813361G>T	ENST00000370186.1	+	7	1311	c.985G>T	c.(985-987)Gag>Tag	p.E329*	ATP2B3_ENST00000263519.4_Nonsense_Mutation_p.E343*|ATP2B3_ENST00000349466.2_Nonsense_Mutation_p.E343*|ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.E343*|ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.E329*|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.E329*			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	343					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGAGATGGAGGAGCGGGA	0.577000													7	18					0.00198382	0.00220122	0.248553	1	0
CCDC14	64770	broad.mit.edu	37	3	123633773	123633773	+	Silent	SNP	A	A	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:123633773A>C	ENST00000485727.1	-	9	6707	c.2115T>G	c.(2113-2115)acT>acG	p.T705T	CCDC14_ENST00000488653.2_Silent_p.T905T|CCDC14_ENST00000489746.1_Silent_p.T705T|CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000433542.2_Silent_p.T864T|CCDC14_ENST00000310351.4_Silent_p.T745T			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	905						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TCAAGTCAGAAGTGAAAACAC	0.458000													4	24					0	0	0.150653	0	0
CACNB3	784	broad.mit.edu	37	12	49220592	49220592	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:49220592G>T	ENST00000301050.2	+	11	1144	c.945G>T	c.(943-945)ctG>ctT	p.L315L	CACNB3_ENST00000536187.2_Silent_p.L314L|CACNB3_ENST00000540990.1_Silent_p.L302L|CACNB3_ENST00000547392.1_Silent_p.L288L|CACNB3_ENST00000547230.1_Silent_p.L274L	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	315					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	TGAAGCACCTGACCGTACAGA	0.617000													77	120					1.38806e-43	2.64548e-43	0.323286	1	0
HPN	3249	broad.mit.edu	37	19	35556239	35556239	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:35556239G>T	ENST00000262626.2	+	10	1722	c.897G>T	c.(895-897)acG>acT	p.T299T	HPN_ENST00000597419.1_Silent_p.T141T|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Silent_p.T299T	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	299	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	p.T299T(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GGGGCAACACGCAGTACTATG	0.587000													33	25					2.91434e-09	4.29984e-09	0.214465	1	0
S100A3	6274	broad.mit.edu	37	1	153520866	153520866	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:153520866C>A	ENST00000368713.3	-	2	292	c.96G>T	c.(94-96)gcG>gcT	p.A32A	S100A3_ENST00000368712.1_Silent_p.A32A|S100A4_ENST00000368714.1_Intron	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	32	EF-hand 1.						calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTGAGCTCCGCCTGGCAGA	0.647000													42	164					1.76056e-25	3.25582e-25	0.301197	1	0
C12orf66	144577	broad.mit.edu	37	12	64588415	64588415	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:64588415G>T	ENST00000311915.8	-	3	572	c.545C>A	c.(544-546)cCt>cAt	p.P182H	C12orf66_ENST00000544871.1_Missense_Mutation_p.P129H|C12orf66_ENST00000398055.3_Missense_Mutation_p.P182H			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	182										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GCTTTCCAAAGGACTGAGGAT	0.468000													10	27					0.00010058	0.000119457	0.093190	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599731	136599731	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:136599731G>T	ENST00000531224.1	-	4	540	c.288C>A	c.(286-288)gtC>gtA	p.V96V	BCLAF1_ENST00000392348.2_Silent_p.V94V|BCLAF1_ENST00000353331.4_Silent_p.V94V|BCLAF1_ENST00000527759.1_Silent_p.V94V|BCLAF1_ENST00000530767.1_Silent_p.V96V|BCLAF1_ENST00000527536.1_Silent_p.V96V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	96					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCTATTCCAGACAGGTCTAT	0.463000													10	100					1.58986e-06	2.08044e-06	0.069234	1	0
RNASEL	6041	broad.mit.edu	37	1	182555440	182555440	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:182555440C>A	ENST00000367559.3	-	2	755	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W	RNASEL_ENST00000444138.1_Missense_Mutation_p.G168W|RNASEL_ENST00000539397.1_Missense_Mutation_p.G168W	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	168					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCTGTGGCCCCTCCTTTCCTC	0.468000													13	32					0.000151284	0.000178891	0.105934	1	0
RYR3	6263	broad.mit.edu	37	15	34157385	34157385	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:34157385C>A	ENST00000389232.4	+	104	14641	c.14571C>A	c.(14569-14571)gcC>gcA	p.A4857A	RYR3_ENST00000415757.3_Silent_p.A4852A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4857					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)		TCTTCCCAGCCGGTGACTGCT	0.388000													11	28					1.61879e-10	2.49756e-10	0.093190	1	0
RUFY2	55680	broad.mit.edu	37	10	70139235	70139235	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:70139235C>A	ENST00000388768.2	-	12	1582	c.1256G>T	c.(1255-1257)cGa>cTa	p.R419L	RUFY2_ENST00000399200.2_Missense_Mutation_p.R350L|RUFY2_ENST00000454950.2_Missense_Mutation_p.R326L|RUFY2_ENST00000602465.1_Missense_Mutation_p.R384L	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	433						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TTCTTCTAGTCGGGCAATTAT	0.353000													20	62					1.36565e-18	2.42051e-18	0.264190	1	0
KCNH5	27133	broad.mit.edu	37	14	63269193	63269193	+	Missense_Mutation	SNP	A	A	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:63269193A>C	ENST00000322893.7	-	9	1944	c.1676T>G	c.(1675-1677)cTg>cGg	p.L559R	KCNH5_ENST00000420622.2_Missense_Mutation_p.L559R|KCNH5_ENST00000394968.1_Missense_Mutation_p.L501R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	559					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAAGGCGCGCAGACACCCATC	0.507000													7	42					0	0	0.278610	0	0
MMS22L	253714	broad.mit.edu	37	6	97720756	97720756	+	Splice_Site	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:97720756A>G	ENST00000275053.4	-	6	695	c.428_splice	c.e6-1	p.Y144_splice	MMS22L_ENST00000369251.2_Splice_Site_p.Y144_splice	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	144					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACTTTCAGATACCTAAAAAAT	0.378000													5	59					0	0	0.217242	0	0
RYR2	6262	broad.mit.edu	37	1	237948092	237948092	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:237948092C>A	ENST00000366574.2	+	90	13397	c.13080C>A	c.(13078-13080)tcC>tcA	p.S4360S	RYR2_ENST00000360064.6_Silent_p.S4366S|RYR2_ENST00000542537.1_Silent_p.S4344S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4360					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCTGCCCTCCGAGGATCTGA	0.537000													9	40					0.0809354	0.0841562	0.080935	1	0
FOXP2	93986	broad.mit.edu	37	7	114268643	114268643	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:114268643C>A	ENST00000393500.3	+	9	851	c.31C>A	c.(31-33)Caa>Aaa	p.Q11K	FOXP2_ENST00000459666.1_3'UTR|FOXP2_ENST00000393498.2_Missense_Mutation_p.Q103K|FOXP2_ENST00000350908.4_Missense_Mutation_p.Q103K|FOXP2_ENST00000393491.3_Missense_Mutation_p.Q11K|FOXP2_ENST00000403559.4_Missense_Mutation_p.Q103K|FOXP2_ENST00000390668.3_Missense_Mutation_p.Q127K|FOXP2_ENST00000408937.3_Missense_Mutation_p.Q128K|FOXP2_ENST00000360232.4_Missense_Mutation_p.Q103K|FOXP2_ENST00000393494.2_Missense_Mutation_p.Q103K|FOXP2_ENST00000378237.3_Missense_Mutation_p.Q103K|FOXP2_ENST00000393489.3_Missense_Mutation_p.Q11K			O15409	FOXP2_HUMAN	forkhead box P2	103					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	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(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CACCCCTCAGCAAATGCAGCA	0.498000													25	92					8.24728e-16	1.41832e-15	0.309145	1	0
ADH1B	125	broad.mit.edu	37	4	100239212	100239212	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:100239212C>A	ENST00000305046.8	-	3	317	c.250G>T	c.(250-252)Gtc>Ttc	p.V84F	ADH1B_ENST00000394887.3_Missense_Mutation_p.V44F|ADH1B_ENST00000504498.1_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	84					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCTGGTTTGACTGTAGTCACC	0.532000													34	127					2.80507e-11	4.41186e-11	0.163468	1	0
PSG6	5675	broad.mit.edu	37	19	43421904	43421904	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:43421904G>T	ENST00000187910.2	-	1	106	c.41C>A	c.(40-42)aCc>aAc	p.T14N	PSG6_ENST00000402603.4_Missense_Mutation_p.T14N|PSG6_ENST00000601833.1_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.T14N	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CCCCTTCCAGGTGATGTGCTG	0.597000													24	169					4.16121e-05	5.10694e-05	0.264190	1	0
ACTN2	88	broad.mit.edu	37	1	236889314	236889314	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:236889314A>G	ENST00000366578.4	+	5	696	c.530A>G	c.(529-531)cAt>cGt	p.H177R	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.H177R	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	177	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CAGAACTTCCATACTAGGTGA	0.478000													17	78					0	0	0.160694	0	0
DGKB	1607	broad.mit.edu	37	7	14216476	14216476	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:14216476C>T	ENST00000403951.2	-	25	2714	c.2295G>A	c.(2293-2295)caG>caA	p.Q765Q	DGKB_ENST00000402815.1_Silent_p.Q764Q|DGKB_ENST00000444700.2_Silent_p.Q746Q|DGKB_ENST00000406247.3_Silent_p.Q765Q|DGKB_ENST00000407950.1_Silent_p.Q757Q|DGKB_ENST00000258767.5_Silent_p.Q765Q|DGKB_ENST00000399322.3_Silent_p.Q765Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	765					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGCATGGGGTCTGCATCCATG	0.378000													6	149					0	0	0.278610	0	0
RMST	196475	broad.mit.edu	37	12	97885685	97885685	+	RNA	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:97885685A>G	ENST00000538559.2	+	0	953				MIR1251_ENST00000408552.2_RNA																							TGGGTCAGCTATGTGGACTCT	0.463000													4	33					0	0	0.150653	0	0
OR2C1	4993	broad.mit.edu	37	16	3406339	3406339	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:3406339C>T	ENST00000304936.2	+	1	451	c.399C>T	c.(397-399)acC>acT	p.T133T		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCCGCTACACCGCCATCATGA	0.607000													7	50					0	0	0.248553	0	0
CDH10	1008	broad.mit.edu	37	5	24488151	24488151	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:24488151C>A	ENST00000264463.4	-	12	2495	c.1988G>T	c.(1987-1989)gGa>gTa	p.G663V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	663					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCCTCCTCTCCACCACCCTC	0.453000										HNSCC(23;0.051)			13	91					3.27435e-08	4.5728e-08	0.119110	1	0
GOLGA4	2803	broad.mit.edu	37	3	37365626	37365626	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:37365626C>T	ENST00000361924.2	+	14	2623	c.2249C>T	c.(2248-2250)aCt>aTt	p.T750I	GOLGA4_ENST00000356847.4_Missense_Mutation_p.T772I|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	750	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATCCAGAGGACTGAGAAGGCA	0.388000													16	27					0	0	0.160694	0	0
ZP1	22917	broad.mit.edu	37	11	60641165	60641165	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:60641165C>T	ENST00000278853.5	+	9	1489	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	497	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGGGGCCACACCTTTCCAGTC	0.577000													32	105					0	0	0.163468	0	0
FBN2	2201	broad.mit.edu	37	5	127645078	127645078	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:127645078G>T	ENST00000508053.1	-	47	6188	c.5214C>A	c.(5212-5214)agC>agA	p.S1738R	FBN2_ENST00000262464.4_Missense_Mutation_p.S1738R			P35556	FBN2_HUMAN	fibrillin 2	1738	TB 7.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTAGCAAAAGCTTTTTCTCA	0.388000													13	27					7.03913e-09	1.02181e-08	0.093190	1	0
PLOD3	8985	broad.mit.edu	37	7	100853845	100853845	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:100853845C>G	ENST00000223127.3	-	13	1866	c.1468G>C	c.(1468-1470)Gac>Cac	p.D490H		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	490					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AAGGCCATGTCCGGGTCTGTG	0.612000													4	44					0	0	0.150653	0	0
KDM2A	22992	broad.mit.edu	37	11	67018137	67018137	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:67018137A>G	ENST00000529006.2	+	17	3082	c.2636A>G	c.(2635-2637)aAt>aGt	p.N879S	KDM2A_ENST00000530342.1_Missense_Mutation_p.N440S|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.N337S|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	879					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GCCAGGCTGAATGGCCGGGGC	0.622000													12	27					0	0	0.080935	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33608995	33608995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:33608995G>A	ENST00000252015.2	-	9	1305	c.1216C>T	c.(1216-1218)Cag>Tag	p.Q406*	TRPC4AP_ENST00000432634.2_Nonsense_Mutation_p.Q367*|TRPC4AP_ENST00000451813.1_Nonsense_Mutation_p.Q398*|TRPC4AP_ENST00000539834.1_Intron			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	406					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGGCCCACCTGGTTTCGCTGA	0.577000													12	36					0	0	0.093190	0	0
WDR16	146845	broad.mit.edu	37	17	9532103	9532103	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:9532103C>T	ENST00000352665.5	+	9	1209	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	WDR16_ENST00000396219.3_Silent_p.I312I|WDR16_ENST00000299764.5_Silent_p.I390I	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	380						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GCCACGGCATCGACTTCATGA	0.522000													4	60					0	0	0.150653	0	0
CFH	3075	broad.mit.edu	37	1	196648885	196648885	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:196648885G>C	ENST00000367429.4	+	6	992	c.752G>C	c.(751-753)tGc>tCc	p.C251S	CFH_ENST00000439155.2_Missense_Mutation_p.C251S|CFH_ENST00000359637.2_Missense_Mutation_p.C187S	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	251	Sushi 4.				complement activation, alternative pathway	extracellular space		p.C251S(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GATGCTGTATGCACTGAATCT	0.318000													26	26					0	0	0.134883	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944935	43944935	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:43944935C>A	ENST00000389420.3	-	2	229	c.230G>T	c.(229-231)cGa>cTa	p.R77L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R77L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	77						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)		ATAGTGGGTTCGGAACGGCAT	0.612000													20	60					7.45023e-12	1.17865e-11	0.219247	1	0
MYO1F	4542	broad.mit.edu	37	19	8592263	8592263	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:8592263C>T	ENST00000338257.8	-	22	2700	c.2433G>A	c.(2431-2433)aaG>aaA	p.K811K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	811						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACTTTCTTCTTCAAGACTT	0.567000													4	18					0	0	0.150653	0	0
DNMT3B	1789	broad.mit.edu	37	20	31390197	31390197	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:31390197C>T	ENST00000328111.2	+	20	2473	c.2152C>T	c.(2152-2154)Cca>Tca	p.P718S	DNMT3B_ENST00000456297.2_Missense_Mutation_p.P622S|DNMT3B_ENST00000353855.2_Missense_Mutation_p.P698S|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P698S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P710S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P698S|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P656S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	718					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACAGTGTAATCCAGTGATGAT	0.483000													27	114					0	0	0.324025	0	0
LPCAT2	54947	broad.mit.edu	37	16	55613023	55613023	+	Silent	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:55613023G>C	ENST00000262134.5	+	13	1501	c.1317G>C	c.(1315-1317)ctG>ctC	p.L439L	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	439	EF-hand 2.				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TTCTTCAGCTGTTTGACGTTG	0.398000													6	107					0	0	0.217242	0	0
ERCC2	2068	broad.mit.edu	37	19	45855483	45855483	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:45855483G>A	ENST00000391945.4	-	22	2251	c.2174C>T	c.(2173-2175)gCa>gTa	p.A725V	ERCC2_ENST00000391944.3_Missense_Mutation_p.A647V	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	725			A -> P (in TTDP).|Missing (in XP-D and TTDP).		cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GAAGGGCTGTGCCATCTGCCG	0.647000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	15					0	0	0.184627	0	0
CASS4	57091	broad.mit.edu	37	20	55026995	55026995	+	Missense_Mutation	SNP	G	G	A	rs73159591	by1000genomes	TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:55026995G>A	ENST00000371336.3	+	5	964	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	CASS4_ENST00000360314.3_Missense_Mutation_p.V255I|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	255					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAAGGCCAGCGTCAGAAACAC	0.507000													4	58					0	0	0.184627	0	0
CLCA2	9635	broad.mit.edu	37	1	86891068	86891068	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:86891068G>T	ENST00000370565.4	+	2	395	c.233G>T	c.(232-234)aGa>aTa	p.R78I		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	78					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			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)		GCTACCAAGAGAAGAGTATTT	0.294000													14	41					0.00185496	0.00208105	0.105934	1	0
OR4F15	390649	broad.mit.edu	37	15	102358610	102358610	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:102358610G>T	ENST00000332238.4	+	1	245	c.221G>T	c.(220-222)tGc>tTc	p.C74F		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATGGCATTTTGCTCAATTACA	0.423000													14	179					3.27435e-08	4.5728e-08	0.119110	1	0
CEP170	9859	broad.mit.edu	37	1	243329225	243329225	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:243329225C>A	ENST00000366542.1	-	13	2088	c.2037G>T	c.(2035-2037)gaG>gaT	p.E679D	CEP170_ENST00000366543.1_Missense_Mutation_p.E581D|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.E581D|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	679						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTGTTTCTTTCTCCTGAAGTT	0.423000													5	73					0.000602214	0.000683184	0.184627	1	0
LRIG3	121227	broad.mit.edu	37	12	59266403	59266403	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:59266403A>G	ENST00000320743.3	-	19	3597	c.3311T>C	c.(3310-3312)tTa>tCa	p.L1104S	LRIG3_ENST00000379141.4_Missense_Mutation_p.L1044S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1104						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GTAGTTTTCTAAAGTCTGTTT	0.388000			T	ROS1	NSCLC								14	68					0	0	0.105934	0	0
OR1E1	8387	broad.mit.edu	37	17	3301242	3301242	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:3301242G>A	ENST00000322608.2	-	1	462	c.463C>T	c.(463-465)Cat>Tat	p.H155Y		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						AACATGGCATGGAAGGTGGTC	0.552000													5	21					0	0	0.217242	0	0
ZBTB39	9880	broad.mit.edu	37	12	57396984	57396984	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:57396984C>T	ENST00000300101.2	-	2	1803	c.1718G>A	c.(1717-1719)gGg>gAg	p.G573E		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GTGCTGCAGCCCAAAACCAGG	0.592000													8	38					0	0	0.307466	0	0
ZNF211	10520	broad.mit.edu	37	19	58152079	58152079	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:58152079G>T	ENST00000544273.1	+	5	588	c.261G>T	c.(259-261)tgG>tgT	p.W87C	ZNF211_ENST00000299871.5_Missense_Mutation_p.W140C|ZNF211_ENST00000541801.1_Missense_Mutation_p.W66C|ZNF211_ENST00000254182.7_Missense_Mutation_p.W66C|ZNF211_ENST00000420680.1_Missense_Mutation_p.W79C|ZNF211_ENST00000391703.3_Missense_Mutation_p.W14C|ZNF211_ENST00000347302.3_Missense_Mutation_p.W75C|ZNF211_ENST00000240731.4_Missense_Mutation_p.W88C			Q13398	ZN211_HUMAN	zinc finger protein 211	75	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAGGTTGTTGGTGTGGAGTGG	0.413000													6	31					0.00198382	0.00220122	0.248553	1	0
CDH17	1015	broad.mit.edu	37	8	95188891	95188891	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:95188891G>A	ENST00000027335.3	-	5	426	c.302C>T	c.(301-303)gCt>gTt	p.A101V	CDH17_ENST00000450165.2_Missense_Mutation_p.A101V|CDH17_ENST00000441892.2_Missense_Mutation_p.A101V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	101	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AATTCCATTAGCGTCCAGGGC	0.448000													18	26					0	0	0.204396	0	0
OR11H12	440153	broad.mit.edu	37	14	19378090	19378090	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:19378090G>T	ENST00000550708.1	+	1	569	c.497G>T	c.(496-498)tGt>tTt	p.C166F		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCTGGGTTTGTGGATTTCTG	0.493000													15	329					1.15088e-07	1.56938e-07	0.146539	1	0
CD1E	913	broad.mit.edu	37	1	158325757	158325757	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:158325757C>A	ENST00000444681.2	+	3	762	c.469C>A	c.(469-471)Cga>Aga	p.R157R	CD1E_ENST00000368160.3_Silent_p.R256R|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368161.3_Silent_p.R256R|CD1E_ENST00000452291.2_Silent_p.R67R|CD1E_ENST00000434258.1_Silent_p.R254R|CD1E_ENST00000368156.1_Silent_p.R166R|CD1E_ENST00000368165.3_Silent_p.R166R|CD1E_ENST00000368167.3_Silent_p.R256R|CD1E_ENST00000368164.3_Silent_p.R67R|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368166.3_Silent_p.R67R	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	256					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGGCACTCAGCGAGGGGACGT	0.627000													33	83					1.22384e-17	2.15034e-17	0.173368	1	0
KIAA1211	57482	broad.mit.edu	37	4	57180410	57180410	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:57180410C>A	ENST00000504228.1	+	6	847	c.742C>A	c.(742-744)Cta>Ata	p.L248I	KIAA1211_ENST00000264229.6_Missense_Mutation_p.L248I|KIAA1211_ENST00000541073.1_Missense_Mutation_p.L241I			Q6ZU35	K1211_HUMAN	KIAA1211	248	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAAGAGACGCCTAGAGGAGCA	0.612000													2	1					0.115264	0.119544	0.115264	1	0
ATP1A2	477	broad.mit.edu	37	1	160099947	160099947	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:160099947G>T	ENST00000361216.3	+	12	1606	c.1517G>T	c.(1516-1518)gGg>gTg	p.G506V	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G506V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	506					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTGATGAAGGGGGCCCCAGAG	0.572000													57	86					6.25564e-26	1.16217e-25	0.323286	1	0
MRPL27	51264	broad.mit.edu	37	17	48445530	48445530	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:48445530C>A	ENST00000511860.1	-	4	587	c.205G>T	c.(205-207)Gct>Tct	p.A69S	MRPL27_ENST00000507088.1_Missense_Mutation_p.A69S|MRPL27_ENST00000503633.1_3'UTR|MRPL27_ENST00000225969.4_Missense_Mutation_p.A124S|MRPL27_ENST00000442592.3_3'UTR			Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	124					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			TAGAGCACAGCACCCTTGGGC	0.552000													21	25					1.2644e-06	1.67075e-06	0.219247	1	0
AIM2	9447	broad.mit.edu	37	1	159036095	159036095	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:159036095G>T	ENST00000368130.4	-	4	709	c.421C>A	c.(421-423)Cag>Aag	p.Q141K	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	141	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GATTCCTGCTGGGCCACCATC	0.453000													18	67					2.37509e-13	3.92617e-13	0.219247	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125521593	125521593	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:125521593C>G	ENST00000431078.1	+	16	2763	c.2399C>G	c.(2398-2400)tCt>tGt	p.S800C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	800	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACAGAAGCCTCTTACCTCCAC	0.428000													10	56					0	0	0.119110	0	0
DAGLA	747	broad.mit.edu	37	11	61496420	61496420	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:61496420G>C	ENST00000257215.5	+	8	905	c.789G>C	c.(787-789)ttG>ttC	p.L263F		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	263					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ATGACATCTTGGCCTTCCTGT	0.587000													6	40					0	0	0.217242	0	0
CRB1	23418	broad.mit.edu	37	1	197404648	197404648	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:197404648C>A	ENST00000367397.1	+	5	2656	c.1798C>A	c.(1798-1800)Cag>Aag	p.Q600K	CRB1_ENST00000535699.1_Missense_Mutation_p.Q1195K|CRB1_ENST00000367400.3_Missense_Mutation_p.Q1219K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.Q1107K|CRB1_ENST00000544212.1_Missense_Mutation_p.Q700K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1219	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGACAACTGCCAGAGTCACCA	0.463000													14	34					0.000219431	0.000258342	0.119110	1	0
CHD5	26038	broad.mit.edu	37	1	6194275	6194275	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:6194275C>A	ENST00000262450.3	-	20	3156	c.3057G>T	c.(3055-3057)ctG>ctT	p.L1019L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1019					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AAGACTTGACCAGGGAGCTTC	0.597000													23	52					9.80776e-20	1.75371e-19	0.338820	1	0
MROH2B	133558	broad.mit.edu	37	5	41064640	41064640	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:41064640G>T	ENST00000399564.4	-	5	844	c.394C>A	c.(394-396)Ctg>Atg	p.L132M		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ATGGTGAGCAGGGTCATCATC	0.458000													7	27					8.12818e-05	9.71066e-05	0.248553	1	0
ERG	2078	broad.mit.edu	37	21	39817490	39817490	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr21:39817490T>A	ENST00000442448.1	-	4	365	c.94A>T	c.(94-96)Acg>Tcg	p.T32S	ERG_ENST00000429727.2_Missense_Mutation_p.T25S|ERG_ENST00000398910.1_Missense_Mutation_p.T32S|ERG_ENST00000398905.1_Missense_Mutation_p.T25S|ERG_ENST00000398907.1_Missense_Mutation_p.T25S|ERG_ENST00000398911.1_Missense_Mutation_p.T32S|ERG_ENST00000288319.7_Missense_Mutation_p.T25S|ERG_ENST00000398919.2_Missense_Mutation_p.T32S|ERG_ENST00000417133.2_Missense_Mutation_p.T32S|ERG_ENST00000398897.1_Intron|ERG_ENST00000453032.2_Intron	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	32					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AGGTGTGGCGTTCCGTAGGCA	0.527000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								8	21					0	0	0.278610	0	0
IFT172	26160	broad.mit.edu	37	2	27669194	27669194	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:27669194G>C	ENST00000260570.3	-	43	4791	c.4688C>G	c.(4687-4689)tCa>tGa	p.S1563*	KRTCAP3_ENST00000543753.1_3'UTR	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1563					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACGCAAGAGTGAAACAGAAAG	0.493000													4	58					0	0	0.184627	0	0
CCDC172	374355	broad.mit.edu	37	10	118101714	118101714	+	Splice_Site	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:118101714G>T	ENST00000333254.3	+	5	699		c.e5+1		CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		TTGAAAAGTGGTATGAATAAA	0.264000													24	47					6.32553e-13	1.033e-12	0.309145	1	0
RFWD2	64326	broad.mit.edu	37	1	176153825	176153825	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:176153825G>A	ENST00000367669.3	-	2	925	c.411C>T	c.(409-411)ccC>ccT	p.P137P	RFWD2_ENST00000308769.8_Silent_p.P137P	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	137					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAAAGCAGATGGGGCTAAAAA	0.264000													20	131					0	0	0.294199	0	0
DYRK3	8444	broad.mit.edu	37	1	206821364	206821364	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:206821364T>C	ENST00000367106.1	+	4	1234	c.761T>C	c.(760-762)aTg>aCg	p.M254T	DYRK3_ENST00000367108.3_Missense_Mutation_p.M254T|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.M274T			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	274	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTTATCCACATGCTGGAAAGT	0.408000													16	101					0	0	0.175082	0	0
DPP6	1804	broad.mit.edu	37	7	154379600	154379600	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:154379600C>A	ENST00000406326.1	+	6	1271	c.868C>A	c.(868-870)Ctg>Atg	p.L290M	DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAGACCCTGGCTGGAGGATTG	0.567000													12	58					4.36969e-10	6.62818e-10	0.105934	1	0
CT47B1	643311	broad.mit.edu	37	X	120009185	120009185	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:120009185G>T	ENST00000371311.3	-	1	594	c.340C>A	c.(340-342)Cgg>Agg	p.R114R		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	114										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCGGGTACCGACGGGTGGCC	0.642000													4	8					0.00024832	0.000288993	0.150653	1	0
CHST10	9486	broad.mit.edu	37	2	101012006	101012006	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:101012006C>T	ENST00000264249.3	-	6	883	c.498G>A	c.(496-498)cgG>cgA	p.R166R	CHST10_ENST00000542617.1_Silent_p.R214R|CHST10_ENST00000409701.1_Silent_p.R166R	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	166					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		p.R166R(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AGGAAGAGAGCCGAGGAAGGC	0.498000													17	56					0	0	0.204396	0	0
OR52W1	120787	broad.mit.edu	37	11	6221384	6221384	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:6221384G>A	ENST00000311352.2	+	1	1009	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGACTCCTGGAAACCTTCAC	0.547000													9	88					0	0	0.069234	0	0
RCC1	1104	broad.mit.edu	37	1	28858388	28858388	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:28858388G>T	ENST00000373833.6	+	6	432	c.147G>T	c.(145-147)ggG>ggT	p.G49G	RCC1_ENST00000373831.3_Silent_p.G80G|RCC1_ENST00000398958.2_Silent_p.G49G|RCC1_ENST00000373832.1_Silent_p.G49G			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	49					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGCTGGGGCTGGGTGAGA	0.597000													16	21					9.16793e-09	1.31434e-08	0.160694	1	0
MYLK3	91807	broad.mit.edu	37	16	46781731	46781731	+	Silent	SNP	G	G	A	rs145422318		TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:46781731G>A	ENST00000394809.4	-	1	490	c.375C>T	c.(373-375)atC>atT	p.I125I	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	125					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCACCAAAGCGATGGCCCTGT	0.657000													7	39					0	0	0.335167	0	0
HGF	3082	broad.mit.edu	37	7	81336644	81336644	+	Missense_Mutation	SNP	C	C	A	rs143262934		TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:81336644C>A	ENST00000222390.5	-	14	1804	c.1578G>T	c.(1576-1578)gaG>gaT	p.E526D	HGF_ENST00000457544.2_Missense_Mutation_p.E521D	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	526	Peptidase S1.				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						GAACCCAACTCTCCTTTATCA	0.368000													14	47					6.72482e-11	1.04351e-10	0.132662	1	0
GPI	2821	broad.mit.edu	37	19	34884931	34884931	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:34884931A>G	ENST00000415930.3	+	12	1225	c.1055A>G	c.(1054-1056)tAt>tGt	p.Y352C	GPI_ENST00000356487.5_Missense_Mutation_p.Y341C|GPI_ENST00000586425.1_Missense_Mutation_p.Y341C	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	341					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					ATGCTGCCCTATGACCAGTAC	0.602000													12	96					0	0	0.080935	0	0
TLDC2	140711	broad.mit.edu	37	20	35509141	35509141	+	Silent	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:35509141C>A	ENST00000217320.3	+	4	470	c.426C>A	c.(424-426)tcC>tcA	p.S142S	TLDC2_ENST00000602922.1_Silent_p.S142S	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		TCTCCTTCTCCCCACAGCTGA	0.572000													15	62					3.41278e-10	5.22562e-10	0.160694	1	0
PSG5	5673	broad.mit.edu	37	19	43683247	43683247	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:43683247C>A	ENST00000599812.1	-	3	588	c.493G>T	c.(493-495)Gtg>Ttg	p.V165L	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000404580.1_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000342951.6_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	165	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GTTAAGATCACAGCCTCCATG	0.522000													12	299					7.03913e-09	1.02181e-08	0.093190	1	0
AHNAK2	113146	broad.mit.edu	37	14	105416670	105416670	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:105416670G>T	ENST00000333244.5	-	7	5237	c.5118C>A	c.(5116-5118)ctC>ctA	p.L1706L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1706						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACTGAATGCTGAGGTCAGTGG	0.637000													10	60					1.08611e-07	1.48606e-07	0.080935	1	0
DEFB110	245913	broad.mit.edu	37	6	49989610	49989610	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:49989610C>A	ENST00000371148.2	-	1	84	c.39G>T	c.(37-39)tgG>tgT	p.W13C	DEFB110_ENST00000393660.2_Missense_Mutation_p.W13C	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	13					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					AAATTGTGACCCAAAAGTGCA	0.303000													5	41					1.23904e-05	1.5488e-05	0.184627	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118355831	118355831	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:118355831A>T	ENST00000528052.1	+	6	642	c.571A>T	c.(571-573)Aca>Tca	p.T191S	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.T191S|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.T191S			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	191					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GAGCAGGATTACAGGTAAGGC	0.582000													22	101					0	0	0.249174	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869726	36869726	+	Silent	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:36869726C>T	ENST00000279024.4	-	3	1078	c.807G>A	c.(805-807)caG>caA	p.Q269Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	269										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CCTCGAAGTCCTGGCTGACCA	0.572000													35	75					0	0	0.203993	0	0
EPYC	1833	broad.mit.edu	37	12	91371911	91371911	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:91371911G>T	ENST00000261172.3	-	3	386	c.294C>A	c.(292-294)ccC>ccA	p.P98P		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	98					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CAGGCTCCTGGGGAGAAGAGC	0.527000											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	62					4.96729e-08	6.91324e-08	0.204396	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769178	31769178	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:31769178C>A	ENST00000240587.4	-	2	1848	c.1521G>T	c.(1519-1521)ttG>ttT	p.L507F		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	507					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L507F(1)|p.L324F(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CATTTTCAGTCAAGTAATGGT	0.468000													232	124					1.40271e-129	2.69881e-129	0.323286	1	0
MUC7	4589	broad.mit.edu	37	4	71346709	71346709	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:71346709A>G	ENST00000413702.1	+	4	536	c.248A>G	c.(247-249)aAa>aGa	p.K83R	MUC7_ENST00000304887.5_Missense_Mutation_p.K83R|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.K83R	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	83						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AACCCCCCCAAATTCCCAAAT	0.463000													4	46					0	0	0.184627	0	0
SLC12A5	57468	broad.mit.edu	37	20	44665907	44665907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:44665907C>A	ENST00000454036.1	+	6	640	c.564C>A	c.(562-564)taC>taA	p.Y188*	SLC12A5_ENST00000372315.1_Nonsense_Mutation_p.Y165*|SLC12A5_ENST00000539566.1_Nonsense_Mutation_p.Y165*|SLC12A5_ENST00000243964.3_Nonsense_Mutation_p.Y165*	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	188					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGGCTCCTACTACATGATTT	0.602000													16	37					3.51602e-12	5.62841e-12	0.204396	1	0
FAT3	120114	broad.mit.edu	37	11	92538488	92538488	+	Silent	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:92538488G>C	ENST00000298047.6	+	10	9083	c.9066G>C	c.(9064-9066)gtG>gtC	p.V3022V	FAT3_ENST00000409404.2_Silent_p.V3022V|FAT3_ENST00000525166.1_Silent_p.V2872V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3022	Cadherin 27.				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)				TCAGTGATGTGAATGACAATA	0.423000										TCGA Ovarian(4;0.039)			9	11					0	0	0.335167	0	0
PTPRD	5789	broad.mit.edu	37	9	8486071	8486071	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:8486071C>T	ENST00000381196.4	-	25	3289	c.2746G>A	c.(2746-2748)Gaa>Aaa	p.E916K	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000356435.5_Missense_Mutation_p.E916K|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.E916K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E894K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E903K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	916					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTGGTACTTCTTCTGGAATG	0.498000										TSP Lung(15;0.13)			12	32					0	0	0.080935	0	0
SH3GL2	6456	broad.mit.edu	37	9	17789439	17789439	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:17789439A>T	ENST00000380607.4	+	6	635	c.515A>T	c.(514-516)aAg>aTg	p.K172M	SH3GL2_ENST00000537391.1_Missense_Mutation_p.K125M	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	172	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATTATAAGAAGAAACGACAA	0.428000													7	47					0	0	0.278610	0	0
RNF152	220441	broad.mit.edu	37	18	59483232	59483232	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr18:59483232C>A	ENST00000312828.3	-	2	1564	c.465G>T	c.(463-465)caG>caT	p.Q155H		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	155					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CCCGCCTGTCCTGCTCCTCCT	0.642000													4	66					5.9392e-07	7.95166e-07	0.217242	1	0
GPR183	1880	broad.mit.edu	37	13	99948054	99948054	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:99948054A>T	ENST00000376414.4	-	2	429	c.346T>A	c.(346-348)Tat>Aat	p.Y116N	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	116					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.Y116N(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						ACACCTGCATATGTGTTGATG	0.448000													26	22					0	0	0.309145	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214740	3214740	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:3214740A>G	ENST00000380059.3	-	5	742	c.641T>C	c.(640-642)aTg>aCg	p.M214T	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.M187T|SLC4A11_ENST00000539553.1_Missense_Mutation_p.M171T	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	187					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TTTACCCCGCATGGGTGCCCC	0.662000													28	107					0	0	0.134883	0	0
NRXN1	9378	broad.mit.edu	37	2	51255041	51255041	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:51255041C>A	ENST00000404971.1	-	2	1710	c.371G>T	c.(370-372)cGc>cTc	p.R124L	NRXN1_ENST00000405472.3_Missense_Mutation_p.R124L|NRXN1_ENST00000401669.2_Missense_Mutation_p.R124L|NRXN1_ENST00000406859.3_Missense_Mutation_p.R124L|NRXN1_ENST00000402717.3_Missense_Mutation_p.R124L|NRXN1_ENST00000405581.1_Missense_Mutation_p.R124L|NRXN1_ENST00000406316.2_Missense_Mutation_p.R124L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	124	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGTGGTGTTGCGGAACTGGCG	0.652000													9	20					0.00621372	0.00671081	0.335167	1	0
CDRT15	146822	broad.mit.edu	37	17	14140027	14140027	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:14140027T>C	ENST00000420162.2	-	1	139	c.124A>G	c.(124-126)Ata>Gta	p.I42V	CDRT15_ENST00000431716.2_Missense_Mutation_p.N17S	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	42										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ATGCGCCTTATTACAACGGGC	0.602000													3	15					0	0	0.115264	0	0
PYHIN1	149628	broad.mit.edu	37	1	158914793	158914793	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:158914793G>T	ENST00000368140.1	+	7	1565	c.1320G>T	c.(1318-1320)caG>caT	p.Q440H	PYHIN1_ENST00000392252.3_Missense_Mutation_p.Q431H|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.Q440H|PYHIN1_ENST00000368138.3_Missense_Mutation_p.Q431H	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	440					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGACTCCTCAGATGCCACCAA	0.483000													10	128					2.27111e-07	3.08141e-07	0.093190	1	0
OR10K2	391107	broad.mit.edu	37	1	158390370	158390370	+	Missense_Mutation	SNP	C	C	A	rs147190355	byFrequency	TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:158390370C>A	ENST00000314902.2	-	1	286	c.287G>T	c.(286-288)gGc>gTc	p.G96V		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GATGGCACAGCCCAGGAAAGA	0.483000													45	121					1.06522e-23	1.94331e-23	0.312237	1	0
GRM4	2914	broad.mit.edu	37	6	33996086	33996086	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:33996086G>T	ENST00000374181.3	-	9	2669	c.2500C>A	c.(2500-2502)Ctg>Atg	p.L834M	GRM4_ENST00000455714.2_Missense_Mutation_p.L694M|GRM4_ENST00000544773.1_Missense_Mutation_p.L665M|GRM4_ENST00000374177.3_Missense_Mutation_p.L718M|GRM4_ENST00000545715.1_Missense_Mutation_p.L526M|GRM4_ENST00000535756.1_Missense_Mutation_p.L701M|GRM4_ENST00000538487.1_Missense_Mutation_p.L834M	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	834					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AGCATTCCCAGGGACACCGAG	0.637000													25	155					6.12954e-19	1.09119e-18	0.309145	1	0
ZFP90	146198	broad.mit.edu	37	16	68598220	68598220	+	Silent	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:68598220A>T	ENST00000570495.1	+	5	1822	c.1530A>T	c.(1528-1530)acA>acT	p.T510T	ZFP90_ENST00000398253.2_Silent_p.T510T|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Silent_p.T510T			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	510					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AAAGGAGTACAAGTTTCATAG	0.413000													24	38					0	0	0.264190	0	0
SF3B2	10992	broad.mit.edu	37	11	65819889	65819889	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:65819889G>T	ENST00000528302.1	+	1	88	c.34G>T	c.(34-36)Gaa>Taa	p.E12*	SF3B2_ENST00000322535.6_Nonsense_Mutation_p.E12*			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	12					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TCCCAAAGCAGAATTGCAGCT	0.677000													8	46					0.00448238	0.00491303	0.307466	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576496	158576496	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:158576496C>A	ENST00000361284.1	+	1	268	c.268C>A	c.(268-270)Cag>Aag	p.Q90K		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q90K(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGGGGGGGACCAGGCTATCTC	0.542000													22	301					5.45024e-15	9.23576e-15	0.279207	1	0
LY96	23643	broad.mit.edu	37	8	74941229	74941229	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:74941229C>A	ENST00000284818.2	+	5	514	c.423C>A	c.(421-423)agC>agA	p.S141R	LY96_ENST00000518893.1_Missense_Mutation_p.S111R	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	141					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TTTCTGGGAGCCCAGAAGAAA	0.299000													3	44					0.00909568	0.0097325	0.150653	1	0
MYO1H	283446	broad.mit.edu	37	12	109862553	109862553	+	Splice_Site	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:109862553G>T	ENST00000310903.5	+	17	1703	c.1596_splice	c.e17-1	p.V533_splice	MYO1H_ENST00000431443.2_Splice_Site_p.V543_splice			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TCACTTACAGGTGCTGTGCAA	0.512000													5	20					0.0215528	0.0227019	0.217242	1	0
ACCSL	390110	broad.mit.edu	37	11	44069626	44069626	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:44069626C>G	ENST00000378832.1	+	1	96	c.40C>G	c.(40-42)Cag>Gag	p.Q14E		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	14							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GCCCTCTGGTCAGAGGAGAGG	0.567000													15	40					0	0	0.146539	0	0
ADCK3	56997	broad.mit.edu	37	1	227171546	227171546	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:227171546G>A	ENST00000366779.1	+	15	4018	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366776.1_Missense_Mutation_p.R341H|ADCK3_ENST00000366775.1_Missense_Mutation_p.R261H|ADCK3_ENST00000433743.2_Missense_Mutation_p.R90H|ADCK3_ENST00000458507.2_Missense_Mutation_p.R137H|ADCK3_ENST00000366778.1_Missense_Mutation_p.R364H|ADCK3_ENST00000366777.3_Missense_Mutation_p.R416H			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	416	Protein kinase.				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GCCTGTGCCCGCAAGTTCAGG	0.677000													5	24					0	0	0.248553	0	0
NUDCD1	84955	broad.mit.edu	37	8	110293353	110293353	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:110293353A>G	ENST00000239690.4	-	6	1246	c.872T>C	c.(871-873)aTa>aCa	p.I291T	NUDCD1_ENST00000427660.2_Missense_Mutation_p.I262T	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	291	CS.									breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TGGAAGCCGTATGGTTACTGT	0.358000													12	41					0	0	0.080935	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499478	34499478	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:34499478C>A	ENST00000538621.1	+	9	1384	c.1139C>A	c.(1138-1140)cCc>cAc	p.P380H	PACSIN1_ENST00000244458.2_Missense_Mutation_p.P380H|PACSIN1_ENST00000374043.2_Missense_Mutation_p.P338H	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	380					endocytosis		protein kinase activity	p.P380H(1)|p.P380L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GGCGCCAACCCCTTTGAGGAC	0.642000													102	108					2.20344e-50	4.2094e-50	0.323286	1	0
FMNL1	752	broad.mit.edu	37	17	43320608	43320608	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:43320608G>T	ENST00000331495.3	+	17	2470	c.2134G>T	c.(2134-2136)Gcc>Tcc	p.A712S	FMNL1_ENST00000587489.1_Missense_Mutation_p.A290S|FMNL1_ENST00000328118.3_Missense_Mutation_p.A712S	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	712	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.A712S(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						ACTCATTGAGGCCAACCGGGC	0.627000													5	85					3.59834e-05	4.4363e-05	0.217242	1	0
GLP2R	9340	broad.mit.edu	37	17	9760870	9760870	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:9760870G>T	ENST00000262441.5	+	6	1255	c.742G>T	c.(742-744)Ggg>Tgg	p.G248W	GLP2R_ENST00000574745.1_Missense_Mutation_p.G68W	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	248					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CAATGAGAATGGGTGGATGTC	0.512000													12	26					1.05317e-09	1.57684e-09	0.119110	1	0
MAB21L2	10586	broad.mit.edu	37	4	151505111	151505111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:151505111C>A	ENST00000317605.4	+	1	2035	c.930C>A	c.(928-930)tgC>tgA	p.C310*	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	310					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCATCTCCTGCCTGCAGTGCC	0.632000													4	24					0.0293803	0.0308265	0.248553	1	0
QPCT	25797	broad.mit.edu	37	2	37580041	37580041	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:37580041G>T	ENST00000338415.3	+	2	388	c.230G>T	c.(229-231)cGa>cTa	p.R77L	QPCT_ENST00000537448.1_Intron	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	77					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTGATAGAGCGATACCCGGGA	0.478000													4	53					0.150653	0.154663	0.150653	1	0
CILP	8483	broad.mit.edu	37	15	65491332	65491332	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:65491332C>A	ENST00000261883.4	-	9	1458	c.1292G>T	c.(1291-1293)cGc>cTc	p.R431L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	431					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AACAGGGCAGCGTCCCACGTC	0.532000													13	38					7.93312e-07	1.05169e-06	0.119110	1	0
GREB1	9687	broad.mit.edu	37	2	11756801	11756801	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:11756801C>T	ENST00000381486.2	+	21	3667	c.3367C>T	c.(3367-3369)Cgc>Tgc	p.R1123C	GREB1_ENST00000234142.5_Missense_Mutation_p.R1123C|GREB1_ENST00000396123.1_Missense_Mutation_p.R121C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1123	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGAGAGGTCCCGCTCCCACGA	0.537000													40	105					0	0	0.279185	0	0
FAM134B	54463	broad.mit.edu	37	5	16565890	16565890	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:16565890C>A	ENST00000306320.9	-	3	526	c.440G>T	c.(439-441)tGg>tTg	p.W147L		NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	147					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						GAGGCTTCTCCACAACTGTGC	0.448000													8	14					0.000274275	0.00031783	0.307466	1	0
PNPLA8	50640	broad.mit.edu	37	7	108113021	108113021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:108113021C>A	ENST00000426128.2	-	10	2112	c.1987G>T	c.(1987-1989)Gaa>Taa	p.E663*	PNPLA8_ENST00000422087.1_Nonsense_Mutation_p.E725*|PNPLA8_ENST00000436062.1_Nonsense_Mutation_p.E725*|PNPLA8_ENST00000257694.8_Nonsense_Mutation_p.E725*|PNPLA8_ENST00000453144.1_Nonsense_Mutation_p.E625*|PNPLA8_ENST00000388728.5_Nonsense_Mutation_p.E663*	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	725					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TCCAGCTTTTCATTTCGACTT	0.338000													19	64					6.44725e-10	9.74305e-10	0.249174	1	0
SPSB4	92369	broad.mit.edu	37	3	140785432	140785432	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:140785432G>T	ENST00000310546.2	+	2	1230	c.486G>T	c.(484-486)ccG>ccT	p.P162P		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	162	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						TGGCCTACCCGGCCTTTCTGG	0.682000													3	5					6.4e-05	7.71599e-05	0.115264	1	0
OR8I2	120586	broad.mit.edu	37	11	55861580	55861580	+	Nonsense_Mutation	SNP	C	C	A	rs116327084	byFrequency	TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:55861580C>A	ENST00000302124.2	+	1	828	c.797C>A	c.(796-798)tCg>tAg	p.S266*	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S266*(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AACACATCATCGCTGACCCAG	0.463000													40	54					1.59932e-28	3.00569e-28	0.257332	1	0
LAMA2	3908	broad.mit.edu	37	6	129785589	129785589	+	Silent	SNP	C	C	A	rs121913576		TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:129785589C>A	ENST00000421865.2	+	50	7196	c.7147C>A	c.(7147-7149)Cga>Aga	p.R2383R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2383	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R2383*(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCTTGCCACACGAGACCTGGT	0.408000													4	98					0.00024832	0.000288993	0.150653	1	0
VPREB1	7441	broad.mit.edu	37	22	22599636	22599636	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr22:22599636G>T	ENST00000403807.3	+	2	464	c.325G>T	c.(325-327)Gac>Tac	p.D109Y	VPREB1_ENST00000302273.2_Missense_Mutation_p.D108Y			P12018	VPREB_HUMAN	pre-B lymphocyte 1	109	Framework-3.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		GCAGCCTGAGGACGAGGCTAT	0.597000													10	21					7.48243e-07	9.96837e-07	0.335167	1	0
SERPINA7	6906	broad.mit.edu	37	X	105277677	105277677	+	Silent	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:105277677C>G	ENST00000327674.4	-	4	1397	c.1062G>C	c.(1060-1062)gtG>gtC	p.V354V	SERPINA7_ENST00000487487.1_Intron|SERPINA7_ENST00000372563.1_Silent_p.V354V			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	354					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CAATGTGCAGCACAGCCTTAT	0.478000													28	75					0	0	0.144211	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521645	125521645	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:125521645C>G	ENST00000431078.1	+	16	2815	c.2451C>G	c.(2449-2451)ttC>ttG	p.F817L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	817	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATATTTCCTTCTTTTTTAAAA	0.413000													10	68					0	0	0.080935	0	0
SLC6A15	55117	broad.mit.edu	37	12	85255538	85255538	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:85255538T>G	ENST00000266682.5	-	12	2607	c.2066A>C	c.(2065-2067)aAt>aCt	p.N689T	SLC6A15_ENST00000552192.1_Missense_Mutation_p.N582T|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	689					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTTACCAAAATTTGGAGATGG	0.438000													48	77					0	0	0.323286	0	0
LEF1	51176	broad.mit.edu	37	4	108991841	108991841	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:108991841C>A	ENST00000379951.2	-	8	2198	c.1010G>T	c.(1009-1011)gGc>gTc	p.G337V	LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000510624.1_Missense_Mutation_p.G269V|LEF1_ENST00000438313.2_Missense_Mutation_p.G337V|LEF1_ENST00000265165.1_Missense_Mutation_p.G365V	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	365					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TGCAGACCAGCCTGGATAAAG	0.453000													24	66					6.32553e-13	1.033e-12	0.309145	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714022	70714022	+	RNA	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:70714022G>T	ENST00000530196.1	-	0	496					NR_003951.1																						CAGAGACTCAGGGGCACCCTC	0.502000													16	46					7.45023e-12	1.17865e-11	0.219247	1	0
HECW1	23072	broad.mit.edu	37	7	43508597	43508597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:43508597G>T	ENST00000395891.1	+	16	3597	c.2992G>T	c.(2992-2994)Gaa>Taa	p.E998*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.E964*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	998					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCGCAATTTTGAACGCTACCA	0.547000													7	43					0.00198382	0.00220122	0.248553	1	0
ZNF41	7592	broad.mit.edu	37	X	47315817	47315817	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chrX:47315817T>C	ENST00000397050.2	-	3	859	c.83A>G	c.(82-84)aAc>aGc	p.N28S	ZNF41_ENST00000465311.1_Intron|ZNF41_ENST00000313116.7_Intron|ZNF41_ENST00000377065.4_Intron	NM_007130.2	NP_009061.1	P51814	ZNF41_HUMAN	zinc finger protein 41	60						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CACAATGCTGTTCAAGGCAGC	0.478000													5	17					0	0	0.217242	0	0
FOXJ2	55810	broad.mit.edu	37	12	8201376	8201376	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:8201376G>C	ENST00000162391.3	+	8	2454	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	FOXJ2_ENST00000428177.2_Missense_Mutation_p.E437Q	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	437					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GTCCAGCATTGAGCAGTCACA	0.463000													21	99					0	0	0.219247	0	0
ZBBX	79740	broad.mit.edu	37	3	167086304	167086304	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:167086304C>A	ENST00000392766.2	-	5	467	c.127G>T	c.(127-129)Gag>Tag	p.E43*	ZBBX_ENST00000307529.5_Nonsense_Mutation_p.E43*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.E43*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.E43*|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.E14*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	43						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGTTTCTTCTCCATCTCTTGG	0.348000													14	44					9.16793e-09	1.31434e-08	0.160694	1	0
HRNR	388697	broad.mit.edu	37	1	152192829	152192829	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:152192829G>T	ENST00000368801.2	-	3	1351	c.1276C>A	c.(1276-1278)Cac>Aac	p.H426N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	426					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTGGCCGTGGCCTGGAGAC	0.617000													11	81					7.03913e-09	1.02181e-08	0.093190	1	0
CASKIN1	57524	broad.mit.edu	37	16	2239498	2239498	+	Silent	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr16:2239498C>G	ENST00000343516.6	-	4	404	c.312G>C	c.(310-312)gcG>gcC	p.A104A		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	104					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CGGCCGAGCCCGCCTTCAGCA	0.697000													7	28					0	0	0.248553	0	0
OR5T2	219464	broad.mit.edu	37	11	55999894	55999894	+	Silent	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:55999894G>C	ENST00000313264.4	-	1	843	c.768C>G	c.(766-768)tcC>tcG	p.S256S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	256					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)					TCAAACCATAGGAGATCAGAA	0.433000													36	74					0	0	0.183431	0	0
AMPH	273	broad.mit.edu	37	7	38424435	38424435	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:38424435G>T	ENST00000356264.2	-	21	2287	c.2072C>A	c.(2071-2073)aCc>aAc	p.T691N	AMPH_ENST00000325590.5_Missense_Mutation_p.T649N|AMPH_ENST00000428293.2_Missense_Mutation_p.T649N	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	691	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TAAGCGTCGGGTGAAGTTCTC	0.463000													21	63					3.01185e-09	4.43563e-09	0.294199	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84609053	84609053	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:84609053C>A	ENST00000344803.2	+	4	3715	c.3668C>A	c.(3667-3669)aCt>aAt	p.T1223N		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AGCCATTTCACTGACATGTCT	0.448000													48	101					2.43139e-17	4.22624e-17	0.323286	1	0
EPHA5	2044	broad.mit.edu	37	4	66356306	66356306	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:66356306C>G	ENST00000273854.3	-	5	1791	c.1191G>C	c.(1189-1191)aaG>aaC	p.K397N	EPHA5_ENST00000354839.4_Missense_Mutation_p.K397N|EPHA5_ENST00000511294.1_Missense_Mutation_p.K397N|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	397	Fibronectin type-III 1.				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						GGGAGTTGCACTTCTTGCATG	0.488000										TSP Lung(17;0.13)			8	26					0	0	0.307466	0	0
SLC1A3	6507	broad.mit.edu	37	5	36671316	36671316	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:36671316G>A	ENST00000265113.4	+	4	981	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	SLC1A3_ENST00000381918.3_Missense_Mutation_p.A169T|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	169					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	AGCTGCAGATGCCTTCCTGGA	0.478000													10	18					0	0	0.069234	0	0
CHAT	1103	broad.mit.edu	37	10	50872957	50872957	+	Silent	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:50872957T>C	ENST00000395562.2	+	16	2335	c.1866T>C	c.(1864-1866)tcT>tcC	p.S622S	CHAT_ENST00000351556.3_Silent_p.S586S|CHAT_ENST00000339797.1_Silent_p.S586S|CHAT_ENST00000337653.2_Silent_p.S704S|CHAT_ENST00000395559.2_Silent_p.S586S|CHAT_ENST00000455728.2_Intron	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	704					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)	AGACTTCTTCTAGCAAGTTTG	0.502000													44	179					0	0	0.323286	0	0
WT1	7490	broad.mit.edu	37	11	32456435	32456435	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:32456435C>T	ENST00000332351.3	-	1	741	c.457G>A	c.(457-459)Gag>Aag	p.E153K	WT1_ENST00000448076.3_Missense_Mutation_p.E153K	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	85					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.W78fs*1(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CACTGCTCCTCGTGCGGCTCC	0.736000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				3	11					0	0	0.184627	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413402	26413402	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:26413402G>T	ENST00000289361.6	+	10	1392	c.1024G>T	c.(1024-1026)Gtg>Ttg	p.V342L	BTN3A1_ENST00000414912.2_Missense_Mutation_p.V290L|BTN3A1_ENST00000476549.2_3'UTR	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	342	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGCAGCGGATGTGATTCTGGA	0.542000													4	105					0.00909568	0.0097325	0.150653	1	0
OR5L1	219437	broad.mit.edu	37	11	55579239	55579239	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:55579239G>A	ENST00000333973.2	+	1	386	c.297G>A	c.(295-297)gtG>gtA	p.V99V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGTGCATGGTGCAATTCTACT	0.453000													10	125					0	0	0.069234	0	0
TNNT2	7139	broad.mit.edu	37	1	201330434	201330434	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:201330434C>A	ENST00000509001.1	-	14	1039	c.753G>T	c.(751-753)caG>caT	p.Q251H	TNNT2_ENST00000367315.2_Missense_Mutation_p.Q248H|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000458432.2_Missense_Mutation_p.Q260H|TNNT2_ENST00000367322.1_Missense_Mutation_p.Q248H|TNNT2_ENST00000367318.5_Missense_Mutation_p.Q251H|TNNT2_ENST00000367320.2_Missense_Mutation_p.Q218H|TNNT2_ENST00000360372.4_Missense_Mutation_p.Q246H|TNNT2_ENST00000236918.7_Missense_Mutation_p.Q256H|TNNT2_ENST00000421663.2_Missense_Mutation_p.Q254H|TNNT2_ENST00000367317.4_Missense_Mutation_p.Q251H	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	261					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TGAACTTCTCCTGCAGGTCGA	0.562000											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	226					2.47316e-13	4.07996e-13	0.183431	1	0
RHAG	6005	broad.mit.edu	37	6	49578805	49578805	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:49578805G>T	ENST00000371175.4	-	7	1025	c.999C>A	c.(997-999)ctC>ctA	p.L333L	RHAG_ENST00000229810.7_Intron	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	333					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GTAAGCCGTGGAGGTTATGGA	0.433000													14	83					9.31168e-06	1.17484e-05	0.105934	1	0
MYH13	8735	broad.mit.edu	37	17	10222286	10222286	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:10222286G>T	ENST00000418404.3	-	26	3722	c.3559C>A	c.(3559-3561)Ctg>Atg	p.L1187M	MYH13_ENST00000570743.1_Missense_Mutation_p.L1187M|MYH13_ENST00000252172.4_Missense_Mutation_p.L1187M			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1187					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCGTGCTGCAGGGTGGCCTCC	0.582000													12	96					1.5842e-08	2.26314e-08	0.105934	1	0
TLR10	81793	broad.mit.edu	37	4	38776878	38776878	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:38776878T>A	ENST00000308973.4	-	4	939	c.334A>T	c.(334-336)Act>Tct	p.T112S	TLR10_ENST00000506111.1_Missense_Mutation_p.T112S|TLR10_ENST00000508334.1_Missense_Mutation_p.T112S|TLR10_ENST00000361424.2_Missense_Mutation_p.T112S	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	112					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AAATACCAAGTTACACTCTTC	0.378000													13	49					0	0	0.093190	0	0
GRM5	2915	broad.mit.edu	37	11	88780650	88780650	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:88780650C>T	ENST00000418177.2	-	2	758	c.391G>A	c.(391-393)Gat>Aat	p.D131N	GRM5_ENST00000305432.5_Missense_Mutation_p.D131N|GRM5_ENST00000305447.4_Missense_Mutation_p.D131N|GRM5_ENST00000455756.2_Missense_Mutation_p.D131N|GRM5_ENST00000393294.3_Missense_Mutation_p.D131N|GRM5_ENST00000393297.1_Missense_Mutation_p.D131N			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	131					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GAGGAGCCATCCACACAGCGT	0.532000													16	111					0	0	0.160694	0	0
RALGAPB	57148	broad.mit.edu	37	20	37187036	37187036	+	Silent	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:37187036T>C	ENST00000262879.6	+	23	3755	c.3471T>C	c.(3469-3471)tgT>tgC	p.C1157C	RALGAPB_ENST00000397042.3_Silent_p.C1153C|RALGAPB_ENST00000397040.1_Silent_p.C1157C|RALGAPB_ENST00000397038.1_Silent_p.C935C			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1157	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCTTGCCATGTCGTCCTTTTG	0.383000													5	270					0	0	0.217242	0	0
NRG3	10718	broad.mit.edu	37	10	84738801	84738801	+	Missense_Mutation	SNP	G	G	T	rs149882313	by1000genomes	TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:84738801G>T	ENST00000372142.2	+	9	1119	c.845G>T	c.(844-846)gGt>gTt	p.G282V	NRG3_ENST00000537893.1_Missense_Mutation_p.G153V|NRG3_ENST00000404547.1_Missense_Mutation_p.G503V|NRG3_ENST00000404576.2_Missense_Mutation_p.G307V|NRG3_ENST00000372141.2_Missense_Mutation_p.G503V|NRG3_ENST00000545131.1_Missense_Mutation_p.G153V|NRG3_ENST00000556918.1_Missense_Mutation_p.G333V	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	503	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGTAGGCTAGGTGGAATTGTG	0.522000													5	27					0.184627	0.188348	0.184627	1	0
GBP4	115361	broad.mit.edu	37	1	89650993	89650993	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:89650993G>T	ENST00000355754.6	-	11	1964	c.1867C>A	c.(1867-1869)Cct>Act	p.P623T	GBP4_ENST00000471938.1_5'UTR	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	623						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GAAGCCCCAGGTAGAGTGACA	0.353000													31	43					6.02846e-25	1.10727e-24	0.183431	1	0
CEP97	79598	broad.mit.edu	37	3	101477085	101477085	+	Silent	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:101477085T>C	ENST00000341893.3	+	9	2387	c.1635T>C	c.(1633-1635)tcT>tcC	p.S545S	CEP97_ENST00000494050.1_Silent_p.S486S|CEP97_ENST00000327230.4_Silent_p.S545S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	545	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CCCAGAGATCTGTTGCTTTGG	0.408000													36	73					0	0	0.225048	0	0
TTN	7273	broad.mit.edu	37	2	179484999	179484999	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:179484999C>T	ENST00000589042.1	-	248	46473	c.46249G>A	c.(46249-46251)Gag>Aag	p.E15417K	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6544K|TTN_ENST00000342992.6_Missense_Mutation_p.E12849K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13776K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E6352K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6477K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13776	Fibronectin type-III 12.						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)			TTGGCTTTCTCTCTGGAGAGC	0.408000													7	113					0	0	0.278610	0	0
CCDC141	285025	broad.mit.edu	37	2	179718292	179718292	+	Silent	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:179718292T>C	ENST00000420890.2	-	20	3237	c.3120A>G	c.(3118-3120)acA>acG	p.T1040T	CCDC141_ENST00000295723.5_Silent_p.T465T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	465							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTTGCACTCTGTGGAATATT	0.403000													8	81					0	0	0.307466	0	0
XIRP2	129446	broad.mit.edu	37	2	168099781	168099781	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:168099781G>A	ENST00000409195.1	+	9	1968	c.1879G>A	c.(1879-1881)Gac>Aac	p.D627N	XIRP2_ENST00000295237.9_Missense_Mutation_p.D627N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D405N|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	452					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAACCCATCGACACACTTGG	0.448000													20	45					0	0	0.204396	0	0
PLD1	5337	broad.mit.edu	37	3	171330158	171330158	+	Silent	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:171330158C>G	ENST00000356327.5	-	24	2749	c.2679G>C	c.(2677-2679)gtG>gtC	p.V893V	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Silent_p.V931V|PLD1_ENST00000340989.4_Silent_p.V931V	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	931	Catalytic.|PLD phosphodiesterase 2.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTGTATCTTGCACAATGACAG	0.507000													12	58					0	0	0.080935	0	0
EDEM3	80267	broad.mit.edu	37	1	184663257	184663257	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:184663257T>C	ENST00000318130.8	-	20	3005	c.2739A>G	c.(2737-2739)atA>atG	p.I913M	EDEM3_ENST00000367512.3_Missense_Mutation_p.I886M	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	913					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGTCTGCTAATATGGAGTCTA	0.368000													3	78					0	0	0.115264	0	0
SNTG1	54212	broad.mit.edu	37	8	51362231	51362231	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:51362231G>A	ENST00000522124.1	+	6	884	c.223G>A	c.(223-225)Gga>Aga	p.G75R	SNTG1_ENST00000518864.1_Missense_Mutation_p.G75R|SNTG1_ENST00000517473.1_Missense_Mutation_p.G75R|SNTG1_ENST00000276467.5_Missense_Mutation_p.G75R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	75	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTTTCAGGGAGGAGCAGAACA	0.343000													3	25					0	0	0.150653	0	0
HSPA12A	259217	broad.mit.edu	37	10	118460560	118460560	+	Missense_Mutation	SNP	T	T	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:118460560T>A	ENST00000369209.3	-	4	439	c.335A>T	c.(334-336)cAc>cTc	p.H112L		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	112							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CCCGAAGCTGTGGAACTTCCT	0.562000													7	63					0	0	0.248553	0	0
MAPK7	5598	broad.mit.edu	37	17	19284391	19284391	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:19284391G>T	ENST00000308406.5	+	4	1255	c.869G>T	c.(868-870)gGg>gTg	p.G290V	MAPK7_ENST00000299612.7_Missense_Mutation_p.G151V|MAPK7_ENST00000395602.4_Missense_Mutation_p.G290V|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.G290V	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	290	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAGGCTGTGGGGGCTGAGAGG	0.622000													4	40					0.014758	0.0156261	0.184627	1	0
FAM114A2	10827	broad.mit.edu	37	5	153413357	153413357	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:153413357C>T	ENST00000351797.4	-	4	473	c.397G>A	c.(397-399)Gta>Ata	p.V133I	FAM114A2_ENST00000520313.1_Missense_Mutation_p.V63I|FAM114A2_ENST00000522858.1_Missense_Mutation_p.V133I|FAM114A2_ENST00000520667.1_Missense_Mutation_p.V133I	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	133							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TGACCTGCTACATACTTGACT	0.363000													14	18					0	0	0.175082	0	0
FICD	11153	broad.mit.edu	37	12	108912393	108912393	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:108912393A>T	ENST00000552695.1	+	3	753	c.518A>T	c.(517-519)cAt>cTt	p.H173L	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	173					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						TCACCCTACCATGAGAAAGCA	0.517000													17	23					0	0	0.160694	0	0
NMNAT2	23057	broad.mit.edu	37	1	183247712	183247712	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:183247712G>A	ENST00000287713.6	-	8	961	c.627C>T	c.(625-627)atC>atT	p.I209I	NMNAT2_ENST00000294868.4_Silent_p.I204I	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	209					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						AGAGCCCTGGGATGCAGAAGG	0.572000													8	46					0	0	0.080935	0	0
PTPRD	5789	broad.mit.edu	37	9	8486172	8486172	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:8486172G>T	ENST00000381196.4	-	25	3188	c.2645C>A	c.(2644-2646)gCt>gAt	p.A882D	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000356435.5_Missense_Mutation_p.A882D|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.A882D|PTPRD_ENST00000358503.5_Missense_Mutation_p.A860D|PTPRD_ENST00000360074.4_Missense_Mutation_p.A869D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	882	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATGTCTGTAGCTGTAAAGTG	0.463000										TSP Lung(15;0.13)			6	31					1.06961e-07	1.46597e-07	0.278610	1	0
GRM4	2914	broad.mit.edu	37	6	34101253	34101253	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:34101253C>G	ENST00000374181.3	-	1	190	c.21G>C	c.(19-21)ttG>ttC	p.L7F	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Missense_Mutation_p.L7F	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	7					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	ACCACCAGCCCAAGCCTCTCT	0.667000													4	55					0	0	0.217242	0	0
NFS1	9054	broad.mit.edu	37	20	34284303	34284303	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:34284303A>G	ENST00000374092.4	-	4	474	c.404T>C	c.(403-405)aTt>aCt	p.I135T	NFS1_ENST00000306750.3_Missense_Mutation_p.I135T|NFS1_ENST00000397425.1_Missense_Mutation_p.I75T|NFS1_ENST00000374085.1_Missense_Mutation_p.I75T|NFS1_ENST00000541387.1_Missense_Mutation_p.I135T|NFS1_ENST00000540053.1_5'UTR	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	135					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TCTTACCTTAATTGCTATGTT	0.448000													5	163					0	0	0.278610	0	0
TBC1D4	9882	broad.mit.edu	37	13	75900386	75900386	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:75900386C>A	ENST00000377636.3	-	10	2326	c.1980G>T	c.(1978-1980)agG>agT	p.R660S	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.R660S|TBC1D4_ENST00000377625.2_Missense_Mutation_p.R660S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	660						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CACCCTGAGCCCTCCCATCCT	0.562000													14	26					1.05317e-09	1.57684e-09	0.119110	1	0
SNTG1	54212	broad.mit.edu	37	8	51362232	51362232	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:51362232G>T	ENST00000522124.1	+	6	885	c.224G>T	c.(223-225)gGa>gTa	p.G75V	SNTG1_ENST00000518864.1_Missense_Mutation_p.G75V|SNTG1_ENST00000517473.1_Missense_Mutation_p.G75V|SNTG1_ENST00000276467.5_Missense_Mutation_p.G75V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	75	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTTCAGGGAGGAGCAGAACAT	0.348000													3	25					0.00909568	0.0097325	0.150653	1	0
C12orf66	144577	broad.mit.edu	37	12	64615957	64615957	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:64615957A>T	ENST00000311915.8	-	1	88	c.61T>A	c.(61-63)Ttc>Atc	p.F21I	C12orf66_ENST00000544871.1_Missense_Mutation_p.F21I|C12orf66_ENST00000398055.3_Missense_Mutation_p.F21I|C12orf66_ENST00000540673.1_5'UTR			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	21										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGAGAGAAGAACGTCTCCAGC	0.642000													5	36					0	0	0.278610	0	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:115080343G>T	ENST00000537058.1	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													3	26					0.150653	0.154663	0.150653	1	0
TRIP12	9320	broad.mit.edu	37	2	230723713	230723713	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:230723713T>C	ENST00000283943.5	-	3	854	c.676A>G	c.(676-678)Aaa>Gaa	p.K226E	TRIP12_ENST00000389044.4_Missense_Mutation_p.K268E|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Missense_Mutation_p.K268E|TRIP12_ENST00000543084.1_Missense_Mutation_p.K268E	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	226					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTCTGATCTTTTCCTTGTTTC	0.527000													4	40					0	0	0.150653	0	0
ZNF2	7549	broad.mit.edu	37	2	95847560	95847560	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:95847560G>T	ENST00000398107.2	+	4	1383	c.861G>T	c.(859-861)ctG>ctT	p.L287L	ZNF2_ENST00000295210.6_Silent_p.L291L|ZNF2_ENST00000425369.1_Silent_p.L249L|ZNF2_ENST00000453539.2_Silent_p.L342L|ZNF2_ENST00000340539.5_Silent_p.L329L	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TCTCGTCTCTGAATAGACATC	0.483000													13	53					9.31168e-06	1.17484e-05	0.105934	1	0
PDZRN3	23024	broad.mit.edu	37	3	73432630	73432630	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:73432630C>A	ENST00000263666.4	-	10	3201	c.3087G>T	c.(3085-3087)agG>agT	p.R1029S	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R751S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R686S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R686S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R746S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1029							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTTTCTTATTCCTCTTCTTCA	0.463000													15	206					7.93312e-07	1.05169e-06	0.119110	1	0
KIAA0226L	80183	broad.mit.edu	37	13	46942868	46942868	+	Splice_Site	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr13:46942868C>A	ENST00000429979.1	-	4	1222	c.618_splice	c.e4+1	p.K206_splice	KIAA0226L_ENST00000322896.6_Splice_Site_p.K49_splice|KIAA0226L_ENST00000534925.1_Splice_Site_p.K71_splice|KIAA0226L_ENST00000378781.3_Splice_Site_p.K206_splice|KIAA0226L_ENST00000409879.2_Splice_Site_p.K49_splice|KIAA0226L_ENST00000389908.3_Splice_Site_p.K206_splice|KIAA0226L_ENST00000378797.2_Splice_Site_p.K206_splice|KIAA0226L_ENST00000378787.3_Splice_Site_p.K206_splice|KIAA0226L_ENST00000378784.4_Splice_Site_p.K139_splice	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	206										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TAGCATTCACCTTTTCTACAT	0.348000													3	70					0.00024832	0.000288993	0.150653	1	0
PFKM	5213	broad.mit.edu	37	12	48533133	48533133	+	Splice_Site	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:48533133G>A	ENST00000340802.6	+	14	1564		c.e14+1		PFKM_ENST00000551804.1_Splice_Site|PFKM_ENST00000395233.2_Splice_Site|PFKM_ENST00000547587.1_Splice_Site|PFKM_ENST00000359794.5_Splice_Site|PFKM_ENST00000312352.7_Splice_Site	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle						fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGAGAGGCCGGTGAGGAGATG	0.532000													3	30					0	0	0.115264	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603171	138603171	+	Missense_Mutation	SNP	C	C	A	rs151118504	by1000genomes	TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:138603171C>A	ENST00000440172.1	-	2	1249	c.1201G>T	c.(1201-1203)Ggt>Tgt	p.G401C	KIAA1549_ENST00000242365.4_Missense_Mutation_p.G351C|KIAA1549_ENST00000422774.1_Missense_Mutation_p.G401C	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	401						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCCACAGGACCGGGGAGGGCT	0.527000			O	BRAF	pilocytic astrocytoma								14	54					9.31168e-06	1.17484e-05	0.105934	1	0
HIST1H4D	8360	broad.mit.edu	37	6	26189205	26189205	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:26189205C>T	ENST00000340756.2	-	1	99	c.100G>A	c.(100-102)Gct>Act	p.A34T		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	34					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				CGGCGGATAGCGGGCTTGGTG	0.557000													5	75					0	0	0.217242	0	0
SVOPL	136306	broad.mit.edu	37	7	138341202	138341202	+	Silent	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:138341202G>A	ENST00000419765.3	-	6	558	c.525C>T	c.(523-525)ccC>ccT	p.P175P	SVOPL_ENST00000288513.5_Silent_p.P23P|SVOPL_ENST00000421622.1_Intron|SVOPL_ENST00000436657.1_Silent_p.P23P	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	175						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCTGAGACAAGGGTAACATAT	0.383000													14	129					0	0	0.160694	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652004	121652004	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:121652004T>G	ENST00000393386.2	+	12	3315	c.2904T>G	c.(2902-2904)caT>caG	p.H968Q	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	968					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.H968Q(2)		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						GCCCTAGCCATATACCAATAC	0.468000													22	79					0	0	0.249174	0	0
CAMLG	819	broad.mit.edu	37	5	134077087	134077087	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:134077087G>T	ENST00000297156.2	+	2	627	c.507G>T	c.(505-507)ctG>ctT	p.L169L	CAMLG_ENST00000514518.1_Intron	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	169					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	GGAAACAGCTGATTAGTGAAA	0.473000													21	45					7.45023e-12	1.17865e-11	0.219247	1	0
YARS2	51067	broad.mit.edu	37	12	32908772	32908772	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:32908772G>A	ENST00000324868.8	-	1	64	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	13					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	CCAGACCACCGGCCCCAGGAA	0.612000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	59					0	0	0.105934	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407947	148407947	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:148407947G>A	ENST00000515425.1	-	11	1449	c.1348C>T	c.(1348-1350)Ccg>Tcg	p.P450S	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.P443S|SH3TC2_ENST00000513340.1_Intron|SH3TC2_ENST00000394358.2_Missense_Mutation_p.P335S	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	450							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGTTCCGGGTCATCAAGG	0.577000													24	34					0	0	0.309145	0	0
GABRA4	2557	broad.mit.edu	37	4	46930369	46930369	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:46930369G>T	ENST00000264318.3	-	9	2520	c.1538C>A	c.(1537-1539)tCt>tAt	p.S513Y		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	513					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTTGTGCCAGATCCAGAAGG	0.438000													15	81					1.3612e-06	1.78989e-06	0.132662	1	0
IGSF10	285313	broad.mit.edu	37	3	151164986	151164986	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:151164986A>T	ENST00000282466.3	-	4	2782	c.2783T>A	c.(2782-2784)aTc>aAc	p.I928N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	928					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GACATCTTTGATCATAGTCCT	0.403000													9	254					0	0	0.307466	0	0
CELSR3	1951	broad.mit.edu	37	3	48688359	48688359	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:48688359A>T	ENST00000544264.1	-	15	6616	c.6336T>A	c.(6334-6336)agT>agA	p.S2112R	CELSR3_ENST00000164024.4_Missense_Mutation_p.S2112R			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2112	Laminin EGF-like.				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)		CTGCGAAGGGACTGTCACAGC	0.672000													11	34					0	0	0.080935	0	0
RBM15B	29890	broad.mit.edu	37	3	51431139	51431139	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:51431139G>C	ENST00000323686.4	+	1	2409	c.2309G>C	c.(2308-2310)cGa>cCa	p.R770P		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	770	Interaction with Epstein-Barr virus BMLF1.|SPOC.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGCGCCTTCGACTGGACCAG	0.612000													7	44					0	0	0.248553	0	0
FBXO24	26261	broad.mit.edu	37	7	100189522	100189522	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:100189522G>T	ENST00000241071.6	+	4	877	c.555G>T	c.(553-555)aaG>aaT	p.K185N	FBXO24_ENST00000465843.1_Missense_Mutation_p.K171N|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.K223N|FBXO24_ENST00000360609.2_Missense_Mutation_p.K171N|FBXO24_ENST00000468962.1_Missense_Mutation_p.K173N	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	185						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGGAGCCAAGGATGTGAGTA	0.552000													15	68					5.01169e-05	6.11366e-05	0.160694	1	0
NSUN2	54888	broad.mit.edu	37	5	6600335	6600335	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr5:6600335C>A	ENST00000264670.6	-	19	2319	c.2008G>T	c.(2008-2010)Gct>Tct	p.A670S	NSUN2_ENST00000539938.1_Missense_Mutation_p.A434S|NSUN2_ENST00000506139.1_Missense_Mutation_p.A635S	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	670						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CACTGCAGAGCGTCTGGATTC	0.428000													6	20					0.00307968	0.00338472	0.278610	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885799	88885799	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr8:88885799G>T	ENST00000319675.3	-	1	497	c.401C>A	c.(400-402)tCa>tAa	p.S134*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	134										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GTGATTCAGTGAGGCCCAGCA	0.557000													10	81					0.00621372	0.00671081	0.335167	1	0
TTN	7273	broad.mit.edu	37	2	179397931	179397931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr2:179397931G>A	ENST00000589042.1	-	358	103635	c.103411C>T	c.(103411-103413)Cga>Tga	p.R34471*	TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R25598*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R31903*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R32830*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R25406*|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R25531*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32830							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)			TGTACGTGTCGCTCATGCTCC	0.478000													5	103					0	0	0.184627	0	0
NES	10763	broad.mit.edu	37	1	156639325	156639325	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:156639325C>T	ENST00000368223.3	-	4	4787	c.4655G>A	c.(4654-4656)gGa>gAa	p.G1552E		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1552	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)					GTTCATCACTCCCCCATTCAC	0.597000													7	150					0	0	0.307466	0	0
DCHS2	54798	broad.mit.edu	37	4	155156668	155156668	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr4:155156668C>T	ENST00000357232.3	-	25	7770	c.7771G>A	c.(7771-7773)Gcc>Acc	p.A2591T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2591					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGCACACTGGCATCCCGGGTC	0.418000													14	66					0	0	0.119110	0	0
SNX7	51375	broad.mit.edu	37	1	99225619	99225619	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:99225619A>G	ENST00000370189.5	+	9	1307	c.943A>G	c.(943-945)Acg>Gcg	p.T315A	SNX7_ENST00000529992.1_Missense_Mutation_p.T375A|SNX7_ENST00000306121.3_Missense_Mutation_p.T430A			Q9UNH6	SNX7_HUMAN	sorting nexin 7	366					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GTGCCTTGCTACGTGGGAGTC	0.393000													3	40					0	0	0.184627	0	0
FLNC	2318	broad.mit.edu	37	7	128491313	128491313	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:128491313C>A	ENST00000325888.8	+	34	5828	c.5567C>A	c.(5566-5568)gCc>gAc	p.A1856D	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.A1823D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1856					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TATGTGGATGCCATCAACAGC	0.557000													4	31					0.00909568	0.0097325	0.150653	1	0
UNC5B	219699	broad.mit.edu	37	10	73055624	73055624	+	Silent	SNP	G	G	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:73055624G>T	ENST00000335350.6	+	14	2648	c.2232G>T	c.(2230-2232)ccG>ccT	p.P744P	UNC5B_ENST00000373192.4_Silent_p.P733P	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	744					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGCCGAAACCGCTAATGTTCA	0.617000													10	49					3.07112e-06	3.96747e-06	0.080935	1	0
ITGA8	8516	broad.mit.edu	37	10	15648340	15648340	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:15648340C>A	ENST00000378076.3	-	18	2199	c.1846G>T	c.(1846-1848)Ggc>Tgc	p.G616C		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	616					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACTTCCAGGCCTTCTTTAAAG	0.363000													8	76					1.06961e-07	1.46597e-07	0.278610	1	0
CNTN1	1272	broad.mit.edu	37	12	41374864	41374864	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:41374864A>T	ENST00000551295.2	+	16	2075	c.1958A>T	c.(1957-1959)aAg>aTg	p.K653M	CNTN1_ENST00000348761.2_Missense_Mutation_p.K642M|CNTN1_ENST00000347616.1_Missense_Mutation_p.K653M	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	653	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAAGATGCAAAGACAGGTGAG	0.348000													40	85					0	0	0.290176	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762738	130762738	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:130762738C>A	ENST00000392429.1	+	2	3549	c.1171C>A	c.(1171-1173)Ctc>Atc	p.L391I	TMEM200A_ENST00000296978.3_Missense_Mutation_p.L391I|TMEM200A_ENST00000545622.1_Missense_Mutation_p.L391I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	391						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTTGCATTTGCTCTCGTCACA	0.527000													15	41					9.16793e-09	1.31434e-08	0.160694	1	0
AHNAK2	113146	broad.mit.edu	37	14	105416671	105416671	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:105416671A>T	ENST00000333244.5	-	7	5236	c.5117T>A	c.(5116-5118)cTc>cAc	p.L1706H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1706						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGAATGCTGAGGTCAGTGGT	0.637000													11	59					0	0	0.105934	0	0
LCE3D	84648	broad.mit.edu	37	1	152552192	152552192	+	Frame_Shift_Del	DEL	C	C	-	rs137868314	byFrequency	TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:152552192delC	ENST00000368787.3	-	2	277	c.221delG	c.(220-222)gcfs	p.G74fs		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	74					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		CTGACCACTGCCCCTGTCACA	0.652													11	179	---	---	---	---					
IVL	3713	broad.mit.edu	37	1	152882412	152882434	+	Frame_Shift_Del	DEL	GTGCCTGTCGAGCTCCCAGTGGA	GTGCCTGTCGAGCTCCCAGTGGA	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:152882412_152882434delGTGCCTGTCGAGCTCCCAGTGGA	ENST00000368764.3	+	2	203_225	c.139_161delGTGCCTGTCGAGCTCCCAGTGGA	c.(139-162)gfs	p.VPVELPVE47fs	IVL_ENST00000392667.2_Intron			P07476	INVO_HUMAN	involucrin	47					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGCCAGAAGGTGCCTGTCGAGCTCCCAGTGGAGGTCCCATCA	0.552													7	102	---	---	---	---					
OR6N2	81442	broad.mit.edu	37	1	158747203	158747204	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:158747203_158747204insA	ENST00000339258.1	-	1	221_222	c.222_223insT	c.(220-225)acctacfs	p.Y75fs		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					ATAGTGGTAGCTGTATACCACA	0.446													59	216	---	---	---	---					
OR2T11	127077	broad.mit.edu	37	1	248789739	248789740	+	Frame_Shift_Ins	INS	-	-	A	rs144343861		TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr1:248789739_248789740insA	ENST00000330803.2	-	1	751_752	c.690_691insT	c.(688-693)gggcaafs	p.Q231fs		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231C(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCTTTTTGCGACCTTCAGCAG	0.515													11	23	---	---	---	---					
TRANK1	9881	broad.mit.edu	37	3	36875088	36875094	+	Frame_Shift_Del	DEL	CGGCCCC	CGGCCCC	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:36875088_36875094delCGGCCCC	ENST00000301807.6	-	21	6095_6101	c.4198_4204delGGGGCCG	c.(4198-4206)ccfs	p.GAA1400fs	TRANK1_ENST00000428977.2_Frame_Shift_Del_p.GAA1400fs|TRANK1_ENST00000429976.2_Frame_Shift_Del_p.GAA1950fs	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1950					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.A1395T(1)|p.A1952T(1)|p.A1402T(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGAGGCGGGCGGCCCCCAGCAGACAT	0.565													6	11	---	---	---	---					
LINC01205	401082	broad.mit.edu	37	3	109190430	109190431	+	RNA	DEL	CC	CC	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:109190430_109190431delCC	ENST00000497996.1	+	0	424																											TCAAATTTCTCCCCACAGATGG	0.455													13	82	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169644533	169644533	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr3:169644533delG	ENST00000428432.2	+	6	872	c.483delG	c.(481-483)cafs	p.Q161fs	SAMD7_ENST00000335556.3_Frame_Shift_Del_p.Q161fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	161										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAAACCTTCAGGGAAACCCCA	0.562													32	87	---	---	---	---					
SOBP	55084	broad.mit.edu	37	6	107956280	107956282	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr6:107956280_107956282delGCC	ENST00000317357.5	+	6	2891_2893	c.2232_2234delGCC	c.(2230-2235)cag>ca	p.QP744del	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	744	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCCCGAGCAgccgccgccgccg	0.749													2	4	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74306378	74306378	+	RNA	DEL	C	C	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr7:74306378delC	ENST00000423186.1	-	0	296							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GGGCGGGGGGCCCCGCGCTCC	0.731													3	6	---	---	---	---					
SPATA31A6	389730	broad.mit.edu	37	9	43627777	43627777	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr9:43627777delG	ENST00000332857.6	-	4	938	c.910delC	c.(910-912)gcfs	p.R304fs	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.R304S(2)									GGTGGGTGGCGGGAAAGAGGA	0.542													50	261	---	---	---	---					
FAM107B	83641	broad.mit.edu	37	10	14572508	14572508	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:14572508delG	ENST00000181796.2	-	3	709	c.476delC	c.(475-477)cafs	p.P160fs	FAM107B_ENST00000378465.3_5'UTR|FAM107B_ENST00000478076.1_5'UTR|FAM107B_ENST00000471815.1_5'UTR|FAM107B_ENST00000378462.1_5'UTR|FAM107B_ENST00000496330.1_5'UTR|FAM107B_ENST00000479731.1_5'UTR|FAM107B_ENST00000378458.2_5'UTR|FAM107B_ENST00000378467.4_5'UTR|FAM107B_ENST00000378470.1_5'UTR|FAM107B_ENST00000468747.1_5'UTR	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCCTCAGGTGGGCTGTCTGA	0.448													10	67	---	---	---	---					
SORCS3	22986	broad.mit.edu	37	10	106937822	106937823	+	Splice_Site	INS	-	-	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:106937822_106937823insG	ENST00000369701.3	+	14	2128		c.e14-1		SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3							integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTTCCAACACAGGGTGAGTTTT	0.446													10	25	---	---	---	---					
HTRA1	5654	broad.mit.edu	37	10	124268261	124268261	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr10:124268261delG	ENST00000368984.3	+	6	1223	c.1095delG	c.(1093-1095)acfs	p.T365fs		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	365	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AGTTCCTCACGGAGTCCCATG	0.517													14	111	---	---	---	---					
OR56B3P	401675	broad.mit.edu	37	11	6149849	6149850	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:6149849_6149850insGC	ENST00000316517.2	+	1	10_11	c.10_11insGC	c.(10-12)cctfs	p.P4fs	RP11-290F24.3_ENST00000529961.1_RNA																							TATGGATATTGGCCTGAGTATA	0.455													3	6	---	---	---	---					
TPP1	1200	broad.mit.edu	37	11	6640051	6640052	+	Frame_Shift_Del	DEL	GA	GA	-	rs2734715	byFrequency	TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:6640051_6640052delGA	ENST00000299427.6	-	3	244_245	c.184_185delTC	c.(184-186)gfs	p.S62fs	TPP1_ENST00000528657.1_3'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_Intron|TPP1_ENST00000533371.1_5'UTR	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	62			S -> L (in dbSNP:rs2734715).		bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CACCAGCTCCGAGAGTCTTTCC	0.619													10	45	---	---	---	---					
OR8I2	120586	broad.mit.edu	37	11	55861360	55861360	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr11:55861360delG	ENST00000302124.2	+	1	608	c.577delG	c.(577-579)gcfs	p.G193fs	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGATACATTCGGCACAGAAAT	0.428													55	87	---	---	---	---					
MYO1A	4640	broad.mit.edu	37	12	57431656	57431657	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:57431656_57431657delTC	ENST00000442789.2	-	19	2244_2245	c.1957_1958delGA	c.(1957-1959)cfs	p.D653fs	MYO1A_ENST00000300119.3_Frame_Shift_Del_p.D653fs|MYO1A_ENST00000544473.1_Frame_Shift_Del_p.D491fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	653	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GTCTTACCGGTCTCCCCCATTC	0.619													12	34	---	---	---	---					
GPN3	51184	broad.mit.edu	37	12	110905973	110905974	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr12:110905973_110905974insG	ENST00000537466.2	-	1	95_96	c.35_36insC	c.(34-36)gggfs	p.G12fs	GPN3_ENST00000228827.3_Frame_Shift_Ins_p.G12fs|GPN3_ENST00000552180.1_Intron|GPN3_ENST00000543199.1_Intron	NM_001164373.1	NP_001157845.1	Q9UHW5	GPN3_HUMAN	GPN-loop GTPase 3	12						protein complex	GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						TCCCGCTGCCCGCGGGGCCCAT	0.663													11	119	---	---	---	---					
GNG2	54331	broad.mit.edu	37	14	52433382	52433382	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr14:52433382delA	ENST00000335281.4	+	3	599	c.193delA	c.(193-195)agfs	p.K65fs	GNG2_ENST00000556766.1_Frame_Shift_Del_p.K65fs|GNG2_ENST00000553432.1_Frame_Shift_Del_p.K96fs|GNG2_ENST00000556752.1_Frame_Shift_Del_p.K65fs|GNG2_ENST00000555472.1_Frame_Shift_Del_p.K65fs|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000554736.1_Frame_Shift_Del_p.K65fs|GNG2_ENST00000557376.1_Frame_Shift_Del_p.K104fs	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	65					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TAGGGAGAAGAAGTTTTTCTG	0.517													9	113	---	---	---	---					
AGBL1	123624	broad.mit.edu	37	15	87531233	87531233	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr15:87531233delT	ENST00000441037.2	+	23	3194	c.3099delT	c.(3097-3099)aafs	p.N1033fs	AGBL1_ENST00000389298.3_Frame_Shift_Del_p.N764fs|AGBL1_ENST00000421325.2_Frame_Shift_Del_p.N1033fs|RP11-133L19.1_ENST00000558587.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1033					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						aatcatccaatttcctgccaa	0.333													12	213	---	---	---	---					
KRT16P6	353194	broad.mit.edu	37	17	16722628	16722628	+	RNA	DEL	C	C	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:16722628delC	ENST00000417510.1	-	0	1102																											TGCCAGAGCTCCGAAATCTCG	0.572													7	56	---	---	---	---					
C17orf102	400591	broad.mit.edu	37	17	32906077	32906078	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr17:32906077_32906078insG	ENST00000357754.1	-	1	310_311	c.222_223insC	c.(220-225)ccccccfs	p.PP74fs		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	74										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						ACTCTGGGGGTGGGGGTAGGGT	0.678													30	89	---	---	---	---					
ZNF404	342908	broad.mit.edu	37	19	44384237	44384237	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr19:44384237delC	ENST00000587539.1	-	2	60	c.61delG	c.(61-63)aafs	p.E21fs	ZNF404_ENST00000324394.6_Frame_Shift_Del_p.E19fs	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TTTAAATATTCCCACTCCTCC	0.378													89	98	---	---	---	---					
JAG1	182	broad.mit.edu	37	20	10653551	10653559	+	In_Frame_Del	DEL	CCCGGGTTC	CCCGGGTTC	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:10653551_10653559delCCCGGGTTC	ENST00000254958.5	-	2	692_700	c.177_185delGAACCCGGG	c.(175-186)cga>cg	p.RNPG59del		NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	59					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CTTGCGGTCTCCCGGGTTCCGGGCGCCGC	0.651									Alagille Syndrome				23	62	---	---	---	---					
DEFB123	245936	broad.mit.edu	37	20	30037939	30037939	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr20:30037939delC	ENST00000376309.3	+	2	346	c.166delC	c.(166-168)ccfs	p.P56fs		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	56					defense response to bacterium	extracellular region				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTGCGTGAAGCCCAAGTACCA	0.433													61	92	---	---	---	---					
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-			TCGA-05-5425-01A-02D-1625-08	TCGA-05-5425-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70a3e96b-dd26-419c-9a68-97dea0465d6e	6c3b5ea4-0efe-4a1a-a5e0-a51ef7be418b	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													4	7	---	---	---	---