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
PHF3	23469	broad.mit.edu	37	6	64421686	64421686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:64421686C>T	ENST00000262043.3	+	16	4542	c.4202C>T	c.(4201-4203)tCt>tTt	p.S1401F	PHF3_ENST00000393387.1_Missense_Mutation_p.S1401F			Q92576	PHF3_HUMAN	PHD finger protein 3	1401					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTTTTTAATTCTTTTACAACT	0.373000													46	65					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158653172	158653172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:158653172C>T	ENST00000368148.3	-	3	559	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E127K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	127				Missing (in Ref. 3; AAA60575).	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)					TTCGTTTCTTCGTGGGCAGAA	0.388000													44	47					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18750521	18750521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:18750521C>T	ENST00000396170.1	-	15	2826	c.1562G>A	c.(1561-1563)aGc>aAc	p.S521N	PTPN5_ENST00000396167.2_Missense_Mutation_p.S521N|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Missense_Mutation_p.S553N|PTPN5_ENST00000396166.3_Missense_Mutation_p.S159N|PTPN5_ENST00000358540.2_Missense_Mutation_p.S553N|PTPN5_ENST00000477854.1_Missense_Mutation_p.S357N|PTPN5_ENST00000396168.1_Missense_Mutation_p.S529N	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	553	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TTCGTAGAGGCTCATGACGTG	0.617000													36	106					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174922	63174922	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:63174922C>T	ENST00000322893.7	-	11	2539	c.2271G>A	c.(2269-2271)caG>caA	p.Q757Q	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	757					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)		TGGGAGTAATCTGTGACACAG	0.542000													11	23					0	0	1	0	0
C9orf117	286207	broad.mit.edu	37	9	130471740	130471740	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:130471740G>A	ENST00000373295.2	+	2	241	c.201G>A	c.(199-201)aaG>aaA	p.K67K		NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	67										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGCAGGAGAAGATGTTCCGCC	0.607000													16	9					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200014571	200014571	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:200014571G>A	ENST00000367362.3	+	4	568	c.321_splice	c.e4-1	p.G108_splice	NR5A2_ENST00000544748.1_Splice_Site_p.G36_splice|NR5A2_ENST00000236914.3_Splice_Site_p.G62_splice	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	108					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TGTCTTATAGGGATTTTTTAA	0.343000													9	41					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042727	74042727	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:74042727C>T	ENST00000409561.1	+	3	1498	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	459										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCTTCAGTTCCTTACAAGATC	0.448000													19	24					0	0	1	0	0
IRAK1	3654	broad.mit.edu	37	X	153284108	153284108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:153284108C>T	ENST00000369980.3	-	5	838	c.671G>A	c.(670-672)gGg>gAg	p.G224E	IRAK1_ENST00000429936.2_Missense_Mutation_p.G250E|IRAK1_ENST00000369974.2_Missense_Mutation_p.G224E|IRAK1_ENST00000393687.2_Missense_Mutation_p.G224E|IRAK1_ENST00000393682.1_Missense_Mutation_p.G250E	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	224	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|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|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated 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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTACACGCACCCAAAGCCACC	0.622000													71	25					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50494789	50494789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:50494789C>T	ENST00000267842.5	+	3	1026	c.794C>T	c.(793-795)cCc>cTc	p.P265L	SLC27A2_ENST00000380902.4_Intron|SLC27A2_ENST00000544960.1_Missense_Mutation_p.P30L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	265					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATCACTCTGCCCTTTTACCAC	0.443000													29	89					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95164179	95164179	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:95164179G>A	ENST00000027335.3	-	13	1837	c.1713C>T	c.(1711-1713)ttC>ttT	p.F571F	CDH17_ENST00000450165.2_Silent_p.F571F|CDH17_ENST00000441892.2_Silent_p.F357F	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	571	Cadherin 6.					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)			CTTTCGCTTGGAATACGTGTT	0.448000													50	45					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613723	14613723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:14613723C>T	ENST00000544627.1	+	9	2797	c.2477C>T	c.(2476-2478)tCt>tTt	p.S826F	ATF7IP_ENST00000261168.4_Missense_Mutation_p.S818F|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S817F|ATF7IP_ENST00000543189.1_Missense_Mutation_p.S817F|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Missense_Mutation_p.S818F			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	818					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GAATTCATTTCTGTGCAAAGC	0.473000													23	56					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10276145	10276145	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:10276145G>A	ENST00000256458.4	+	11	1365	c.1275G>A	c.(1273-1275)aaG>aaA	p.K425K		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	425	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated 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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TCCCACAGAAGGACTTACTCC	0.572000													15	57					0	0	1	0	0
ALG14	199857	broad.mit.edu	37	1	95538398	95538398	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:95538398G>A	ENST00000370205.4	-	1	103	c.57C>T	c.(55-57)atC>atT	p.I19I	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	19					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		ATATTCGCAGGATTAGGAAAA	0.587000													29	95					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121237401	121237401	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:121237401C>T	ENST00000297848.3	+	15	2082	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	COL14A1_ENST00000309791.4_Silent_p.F604F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Silent_p.F509F	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	604	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTGCTATTTTCTCCATCTATG	0.398000													11	56					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9080501	9080501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9080501C>T	ENST00000397910.4	-	2	9733	c.9530G>A	c.(9529-9531)gGa>gAa	p.G3177E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3178	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A3175fs*111(1)		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						CGTGGAATTTCCTTGTGCTGC	0.498000													26	73					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284741	223284741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:223284741C>T	ENST00000540964.1	-	4	2094	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	TLR5_ENST00000342210.6_Missense_Mutation_p.D545N			O60602	TLR5_HUMAN	toll-like receptor 5	545			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GCAGGTAAATCATTGTGAGAA	0.413000													52	61					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365623	13365623	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:13365623G>A	ENST00000379287.3	-	2	1189	c.525C>T	c.(523-525)tcC>tcT	p.S175S	GFOD1_ENST00000379284.1_Silent_p.S72S	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	175						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			AGGTGCCCACGGAGTGCAGGC	0.632000													14	17					0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32745577	32745577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:32745577G>A	ENST00000333070.4	+	11	1367	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	LCK_ENST00000336890.5_Missense_Mutation_p.E393K|LCK_ENST00000373564.3_Missense_Mutation_p.E400K	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	393	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	TGAGGACAACGAGTACACAGC	0.557000			T	TRB@	T-ALL								41	28					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670269	158670269	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:158670269G>A	ENST00000359610.2	-	1	217	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAGTATACATGGGAGTGTGGA	0.438000													24	70					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119772	3119772	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:3119772C>T	ENST00000304094.1	+	1	858	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TAAATCCTTTCATCTACAGTC	0.473000													28	126					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70087518	70087518	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:70087518G>A	ENST00000330891.5	-	4	643	c.417C>T	c.(415-417)atC>atT	p.I139I	BEST3_ENST00000553096.1_Silent_p.I33I|BEST3_ENST00000551160.1_Silent_p.I33I|BEST3_ENST00000331471.4_Silent_p.I139I|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000393365.1_Silent_p.I33I|BEST3_ENST00000266661.4_Silent_p.I33I	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	139						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCGAGCGAAAGATGAGCAGGG	0.517000													16	51					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670041	158670041	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:158670041G>A	ENST00000359610.2	-	1	445	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGGGGTCATGATAGAGGGAT	0.473000													16	81					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18061077	18061077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:18061077C>T	ENST00000205890.5	+	51	9168	c.8830C>T	c.(8830-8832)Cct>Tct	p.P2944S	MYO15A_ENST00000418233.3_Missense_Mutation_p.P208S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2944	SH3.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGCCGCTTCCCTTCGGAGCT	0.687000													35	34					0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43896032	43896032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:43896032C>T	ENST00000291536.3	-	8	1020	c.853G>A	c.(853-855)Gag>Aag	p.E285K	RSPH1_ENST00000398352.3_Missense_Mutation_p.E247K	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	285					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TAGCGGAACTCCTCCTGGTCA	0.622000													26	50					0	0	1	0	0
OPALIN	93377	broad.mit.edu	37	10	98111145	98111145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:98111145C>T	ENST00000419479.1	-	4	539	c.32G>A	c.(31-33)gGg>gAg	p.G11E	OPALIN_ENST00000393870.2_Intron|OPALIN_ENST00000536387.1_Missense_Mutation_p.G11E|OPALIN_ENST00000371172.3_Missense_Mutation_p.G21E|OPALIN_ENST00000393871.1_Intron	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	21						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CGTTTCTTTCCCACCTGTGAC	0.323000													20	45					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23825146	23825146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:23825146C>T	ENST00000354639.3	+	18	2593	c.2129C>T	c.(2128-2130)gCt>gTt	p.A710V	STK31_ENST00000355870.3_Missense_Mutation_p.A733V|STK31_ENST00000433467.2_Missense_Mutation_p.A733V|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.A710V	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	733	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTCTTGATGCTGAGCCCATG	0.418000													42	85					0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178281742	178281742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:178281742C>T	ENST00000264596.3	+	9	1664	c.1546C>T	c.(1546-1548)Ctc>Ttc	p.L516F		NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	516					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCTCTGCATTCTCCGAGTTGT	0.458000								Base excision repair (BER), DNA glycosylases					31	86					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039124	11039124	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:11039124C>T	ENST00000470054.1	-	0	1079									B melanoma antigen family, member 2															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)		ACCAACTGTTCCTCAGGACAT	0.398000													16	250					0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58313613	58313613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:58313613C>T	ENST00000219299.4	+	9	1145	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C	CCDC113_ENST00000443128.2_Missense_Mutation_p.R302C	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	356						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AAAAGGCCATCGTAAGGCTTG	0.428000													9	16					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813316	24813316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:24813316G>A	ENST00000376451.2	+	8	1830	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	KIAA1217_ENST00000376452.3_Missense_Mutation_p.E806K|KIAA1217_ENST00000396446.1_Missense_Mutation_p.E524K|KIAA1217_ENST00000307544.6_Missense_Mutation_p.E524K|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E761K|KIAA1217_ENST00000458595.1_Missense_Mutation_p.E806K|KIAA1217_ENST00000396445.1_Missense_Mutation_p.E524K|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.E841K			Q5T5P2	SKT_HUMAN	KIAA1217	841					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CATGGCTATGGAAAAGGCCAC	0.597000													21	40					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44921560	44921560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:44921560C>T	ENST00000261866.7	-	9	1778	c.1762G>A	c.(1762-1764)Gat>Aat	p.D588N	SPG11_ENST00000559193.1_Missense_Mutation_p.D588N|SPG11_ENST00000558319.1_Missense_Mutation_p.D588N|SPG11_ENST00000427534.2_Missense_Mutation_p.D588N|SPG11_ENST00000535302.2_Missense_Mutation_p.D588N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	588					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAAAGTAAATCCAATGCTGGT	0.338000													17	13					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32328309	32328309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:32328309C>T	ENST00000357033.4	-	42	6213	c.6007G>A	c.(6007-6009)Gaa>Aaa	p.E2003K	DMD_ENST00000378677.2_Missense_Mutation_p.E1999K	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	2003					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)				TGAGTGATTTCAGTCAAATAA	0.408000													12	1					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442052	145442052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:145442052C>T	ENST00000511217.1	+	9	2030	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S	SH3RF2_ENST00000359120.4_Missense_Mutation_p.P660S|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	660							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCTCCCATCCCACCTCCGG	0.557000													78	51					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611502	179611502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:179611502G>A	ENST00000360870.5	-	46	15847	c.15625C>T	c.(15625-15627)Ctt>Ttt	p.L5209F	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8728	Ig-like 32.						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)			GGAACTGGAAGACCTTCAACT	0.378000													12	29					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335499	42335499	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:42335499G>A	ENST00000262418.6	-	11	1292	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	379					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCAGGCCCCCGAAGAGCTGGC	0.587000													36	117					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26291180	26291180	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:26291180A>T	ENST00000335473.7	+	28	4851	c.4601A>T	c.(4600-4602)aAg>aTg	p.K1534M	MYO18B_ENST00000536101.1_Missense_Mutation_p.K1534M|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000597614.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.K1535M|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1534	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTCCTCAGAAAGCGTCTGCAG	0.542000													9	7					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872159	51872159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:51872159C>T	ENST00000371497.5	+	2	3049	c.2162C>T	c.(2161-2163)cCa>cTa	p.P721L	TSHZ2_ENST00000329613.6_Missense_Mutation_p.P718L|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P718L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	721					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGCTCCAGCCCAAGTTCAAGC	0.572000													41	39					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99296257	99296257	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:99296257G>A	ENST00000375241.1	-	9	1349	c.898C>T	c.(898-900)Cta>Tta	p.L300L	CDC14B_ENST00000375242.3_Silent_p.L263L|CDC14B_ENST00000463569.1_Silent_p.L300L|CDC14B_ENST00000375240.3_Silent_p.L300L|CDC14B_ENST00000265659.2_Silent_p.L300L|CDC14B_ENST00000375236.1_Silent_p.L300L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	300	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CAGATATCTAGGAATTCTTTG	0.418000													15	13					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929233	4929233	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:4929233C>T	ENST00000359350.4	+	1	634	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGACTTGGCACTGATTGTTTT	0.453000													40	66					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410126	159410126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:159410126C>T	ENST00000423932.3	+	1	615	c.578C>T	c.(577-579)cCt>cTt	p.P193L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	193					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GACATCCGCCCTGTGATGAAG	0.463000													107	84					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	40998729	40998729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:40998729C>T	ENST00000399564.4	-	41	5086	c.4636G>A	c.(4636-4638)Gaa>Aaa	p.E1546K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E1101K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GTCAGTTGTTCTCTGTCTAGT	0.393000													6	3					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20493457	20493457	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:20493457C>T	ENST00000504154.1	+	9	1101	c.849C>T	c.(847-849)atC>atT	p.I283I	SLIT2_ENST00000273739.5_Silent_p.I287I|SLIT2_ENST00000503823.1_Silent_p.I283I|SLIT2_ENST00000503837.1_Silent_p.I287I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	283	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCAACAATATCGTAGACTGTC	0.433000													31	103					0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77407851	77407851	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:77407851T>C	ENST00000334955.7	+	8	1934	c.1907T>C	c.(1906-1908)gTc>gCc	p.V636A	RSBN1L_ENST00000445288.1_Missense_Mutation_p.V366A	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	636						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTTAGTGTGTCCAATGGGTT	0.333000													20	44					0	0	1	0	0
RP11-402C9.1	0	broad.mit.edu	37	4	183090455	183090455	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:183090455C>T	ENST00000505389.1	+	0	120				MIR1305_ENST00000408300.1_RNA																							GAAGATCCTGCTGTTTCTACC	0.373000													3	4					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17867105	17867105	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:17867105A>G	ENST00000325083.8	+	31	5451	c.5012A>G	c.(5011-5013)gAt>gGt	p.D1671G	PCM1_ENST00000524226.1_Missense_Mutation_p.D1617G|PCM1_ENST00000327578.8_Missense_Mutation_p.D370G|PCM1_ENST00000519253.1_Missense_Mutation_p.D1663G	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1671	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGTGGAGAAGATCTTCTTGTA	0.308000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								2	9					0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377895	125377895	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:125377895G>A	ENST00000297913.2	+	1	948	c.879G>A	c.(877-879)agG>agA	p.R293R	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ACAGCCTGAGGAATGGGGATG	0.473000													19	48					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993203	140993203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:140993203G>A	ENST00000285879.4	+	4	299	c.13G>A	c.(13-15)Gat>Aat	p.D5N	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	5							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACAAGGATATGCCTAC	0.522000										HNSCC(15;0.026)			23	10					0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74968155	74968155	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:74968155G>A	ENST00000299727.3	+	2	708	c.708G>A	c.(706-708)aaG>aaA	p.K236K	GALR1_ENST00000582943.1_3'UTR	NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	236					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		ACATGTCAAAGAAGTCTGAAG	0.348000													37	78					0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681356	44681356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:44681356C>T	ENST00000381176.4	-	4	683	c.551G>A	c.(550-552)gGa>gAa	p.G184E		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	184						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GTGAGCATCTCCCCGCAATGT	0.642000													33	79					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024152	55024152	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:55024152T>G	ENST00000324000.3	+	3	2345	c.311T>G	c.(310-312)aTt>aGt	p.I104S		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	104					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AGGCAAGAAATTCTTCAGCAT	0.318000													14	34					0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100992261	100992261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:100992261C>T	ENST00000335290.6	+	5	1382	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	WDR25_ENST00000554998.1_Missense_Mutation_p.R386W|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Missense_Mutation_p.R386W|WDR25_ENST00000542471.2_Missense_Mutation_p.R129W	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	386										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CCTGTTCCTCCGGGAAGGCTC	0.597000													25	35					0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132892410	132892410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:132892410G>A	ENST00000275198.1	+	1	950	c.950G>A	c.(949-951)tGg>tAg	p.W317*		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	317						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TTTTACCCATGGTTTAGGAAA	0.338000													61	19					0	0	1	0	0
MIR519C	574466	broad.mit.edu	37	19	54189795	54189795	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:54189795G>A	ENST00000385053.1	+	0	73					NR_030188.1																						CTTTTTAGAGGATTACAGTTT	0.433000													29	58					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	437846	437846	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:437846T>A	ENST00000338977.5	-	2	422	c.374A>T	c.(373-375)tAc>tTc	p.Y125F	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.Y137F|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTCACAAGTGTAGGGTTTCTC	0.388000													49	118					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37687013	37687013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:37687013C>T	ENST00000447079.4	+	14	3950	c.3917C>T	c.(3916-3918)tCc>tTc	p.S1306F	CDK12_ENST00000430627.2_Missense_Mutation_p.S1297F	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1306					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAACTTTTATCCCAGCCTGAA	0.617000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			50	197					0	0	1	0	0
KLRC1	3821	broad.mit.edu	37	12	10603648	10603648	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:10603648C>T	ENST00000544822.1	-	3	495	c.108G>A	c.(106-108)caG>caA	p.Q36Q	KLRC1_ENST00000347831.5_Silent_p.Q36Q|KLRC1_ENST00000536188.1_Silent_p.Q36Q|KLRC1_ENST00000408006.3_Silent_p.Q36Q|KLRC1_ENST00000359151.3_Silent_p.Q36Q	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	36					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						AGGTTATTTCCTGTTCAGTTG	0.393000													46	56					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166003308	166003308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:166003308G>A	ENST00000360093.3	-	12	2103	c.1612C>T	c.(1612-1614)Ctt>Ttt	p.L538F	SCN3A_ENST00000409101.3_Missense_Mutation_p.L538F|SCN3A_ENST00000283254.7_Missense_Mutation_p.L538F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	538						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATGGAGAAAAGGAAGCTGCTT	0.433000													27	49					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2807826	2807826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:2807826G>A	ENST00000520002.1	-	68	10799	c.10244C>T	c.(10243-10245)gCt>gTt	p.A3415V	CSMD1_ENST00000602723.1_Missense_Mutation_p.A3238V|CSMD1_ENST00000602557.1_Missense_Mutation_p.A3415V|CSMD1_ENST00000400186.3_Missense_Mutation_p.A3238V|CSMD1_ENST00000542608.1_Missense_Mutation_p.A3237V|CSMD1_ENST00000537824.1_Missense_Mutation_p.A3414V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3415						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)		AATTTGAAAAGCTTTCAGGAG	0.398000													33	83					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710933	14710933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:14710933C>T	ENST00000547437.1	+	12	910	c.833C>T	c.(832-834)gCc>gTc	p.A278V	CLEC17A_ENST00000417570.1_Missense_Mutation_p.A278V|CLEC17A_ENST00000397439.2_Missense_Mutation_p.A261V	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	278	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										TGGGATGAGGCCCGGATGTTC	0.522000													16	34					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136327	103136327	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:103136327G>A	ENST00000295269.4	+	9	2188	c.1731G>A	c.(1729-1731)agG>agA	p.R577R		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	577					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGGCCCAGAGGATACAAGGAA	0.453000													20	29					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71206851	71206851	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:71206851G>T	ENST00000554752.2	-	7	1597	c.1598C>A	c.(1597-1599)tCc>tAc	p.S533Y	MAP3K9_ENST00000555993.2_Missense_Mutation_p.S533Y|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S533Y|MAP3K9_ENST00000553414.1_Missense_Mutation_p.S227Y|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S270Y			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	533				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CATGGTAGGGGAGGCCTGCAC	0.463000													19	32					2.54575e-18	2.57004e-18	1	1	0
PCDH18	54510	broad.mit.edu	37	4	138451935	138451935	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:138451935G>A	ENST00000344876.4	-	1	1694	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	PCDH18_ENST00000507846.1_Silent_p.I216I|PCDH18_ENST00000412923.2_Silent_p.I436I|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	436	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTCCTCAGCGATTACAGTCA	0.383000													39	97					0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97328289	97328289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:97328289C>T	ENST00000328504.3	+	3	527	c.260C>T	c.(259-261)cCa>cTa	p.P87L	SPATA8_ENST00000558553.1_Silent_p.P46P	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	87										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTGCTTCCCCACTGATTCAG	0.448000													36	59					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100225217	100225217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:100225217C>T	ENST00000462107.1	-	16	2037	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	TFR2_ENST00000223051.3_Missense_Mutation_p.E584K|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000544242.1_Missense_Mutation_p.E125K			Q9UP52	TFR2_HUMAN	transferrin receptor 2	584					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AAGGAGAACTCGACGGCAGGG	0.642000													17	28					0	0	1	0	0
AAMP	14	broad.mit.edu	37	2	219130370	219130370	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:219130370G>A	ENST00000248450.4	-	8	1085	c.915C>T	c.(913-915)tcC>tcT	p.S305S	AAMP_ENST00000420660.1_Silent_p.S286S|AAMP_ENST00000444053.1_Silent_p.S306S			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	305					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGGGCTGGGAGGCCACAG	0.577000													36	45					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466022	56466022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:56466022G>A	ENST00000291971.3	+	3	669	c.598G>A	c.(598-600)Ggt>Agt	p.G200S	NLRP8_ENST00000590542.1_Missense_Mutation_p.G200S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	200						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAGACCCCAGGGTAGACAGCC	0.517000													15	43					0	0	1	0	0
HMG20A	10363	broad.mit.edu	37	15	77756589	77756589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:77756589C>T	ENST00000381714.3	+	4	525	c.97C>T	c.(97-99)Cac>Tac	p.H33Y	HMG20A_ENST00000336216.4_Missense_Mutation_p.H33Y	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	33					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CAGGTTAAATCACCCAGAGGT	0.433000													18	34					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110807629	110807629	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:110807629C>T	ENST00000375820.4	-	50	4877		c.e50+1			NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1						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)			CAGACACTTACCATCACAAAA	0.607000													19	18					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101561890	101561890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:101561890G>A	ENST00000536262.2	-	11	1862	c.1304C>T	c.(1303-1305)cCc>cTc	p.P435L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	435					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTTGGCAAAGGGAACCAAAAT	0.398000													4	8					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634315	32634315	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:32634315G>A	ENST00000242310.4	-	1	1352	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	421					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCACCATCAGGAAGTTTTCGT	0.458000													301	137					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50865262	50865262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:50865262G>A	ENST00000253719.2	-	3	521	c.313C>T	c.(313-315)Ccg>Tcg	p.P105S	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	105					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CTCCTGGACGGGACCCAGAGA	0.547000													4	5					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66703764	66703764	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:66703764C>T	ENST00000247815.4	+	4	1115	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	352					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CCTGTGTCTTCCCTTATGACC	0.413000													74	116					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212634	55212634	+	Missense_Mutation	SNP	G	G	A	rs34056887		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:55212634G>A	ENST00000396834.1	+	17	2420	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	IL31RA_ENST00000354961.4_Missense_Mutation_p.E642K|IL31RA_ENST00000490985.1_Missense_Mutation_p.E519K|IL31RA_ENST00000359040.5_Missense_Mutation_p.E661K|IL31RA_ENST00000447346.2_Missense_Mutation_p.E661K	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	629					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AACGGGTCAGGAAAACAATTT	0.478000													31	47					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167250754	167250754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:167250754C>T	ENST00000308378.3	-	8	1215	c.910G>A	c.(910-912)Gga>Aga	p.G304R	WDR49_ENST00000476376.1_Missense_Mutation_p.G129R|WDR49_ENST00000453925.2_Missense_Mutation_p.G368R|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	304										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ACAATTTCTCCATCATAACTC	0.373000													28	22					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114391169	114391169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:114391169C>T	ENST00000359785.5	-	11	1043	c.908G>A	c.(907-909)gGa>gAa	p.G303E	PTPN22_ENST00000538253.1_Missense_Mutation_p.G59E|PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.G303E|PTPN22_ENST00000525799.1_Missense_Mutation_p.G176E	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	303					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCTCTGTTCCAGAATGTTT	0.333000													91	102					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590640	156590640	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:156590640C>G	ENST00000302938.4	-	2	731	c.636G>C	c.(634-636)caG>caC	p.Q212H		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	212						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGTCTCACTCTGATCCCCTT	0.512000													75	50					0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435516	5435516	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:5435516C>T	ENST00000380419.3	-	4	1342	c.1305G>A	c.(1303-1305)ctG>ctA	p.L435L	TUBAL3_ENST00000479328.1_Silent_p.L395L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	435					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AGTCCCTCTCCAGGGCTGCCA	0.478000													19	41					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24346730	24346730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:24346730G>A	ENST00000175238.6	+	12	1233	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	ADAM7_ENST00000380789.1_Missense_Mutation_p.D384N|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D156N	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	384	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTACTTGAAGGATTATAAGCC	0.353000													39	38					0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77727910	77727910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:77727910G>A	ENST00000353172.5	-	2	541	c.497C>T	c.(496-498)tCc>tTc	p.S166F	KCTD14_ENST00000533144.1_Missense_Mutation_p.S136F	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	166						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AAGCACGCTGGACTTCCGTGC	0.527000													49	117					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1409168	1409168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:1409168C>T	ENST00000270349.9	-	11	1598	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	SLC6A3_ENST00000453492.2_Missense_Mutation_p.E491K	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	491					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CCGATGGCTTCGATGAGCACT	0.592000													22	8					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514289	47514289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:47514289G>A	ENST00000371901.3	+	10	1510	c.1260G>A	c.(1258-1260)tgG>tgA	p.W420*	CYP4X1_ENST00000538609.1_Nonsense_Mutation_p.W419*	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	420						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTGCTGTCTGGAAAAACCCAA	0.418000													52	123					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215150	141215150	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:141215150C>T	ENST00000389484.3	-	61	10667	c.9696G>A	c.(9694-9696)ggG>ggA	p.G3232G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3232					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)		ACTTGGTTTTCCCATCAGTCC	0.428000										TSP Lung(27;0.18)			58	72					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701924	181701924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:181701924G>A	ENST00000526775.1	+	19	2810	c.2645G>A	c.(2644-2646)gGa>gAa	p.G882E	CACNA1E_ENST00000360108.3_Missense_Mutation_p.G882E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G852E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G901E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G833E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G901E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G508E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	901					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						GAGGCAGGGGGAGGAGAGGCT	0.662000													23	44					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146351039	146351039	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:146351039C>G	ENST00000392299.2	+	2	856	c.386C>G	c.(385-387)tCc>tGc	p.S129C	GRM1_ENST00000282753.1_Missense_Mutation_p.S129C|GRM1_ENST00000507907.1_Missense_Mutation_p.S129C|GRM1_ENST00000355289.4_Missense_Mutation_p.S129C|GRM1_ENST00000492807.2_Missense_Mutation_p.S129C|GRM1_ENST00000361719.2_Missense_Mutation_p.S129C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	129					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCTCTGATTTCCATTCGAGAT	0.582000													53	19					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14737460	14737460	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:14737460C>T	ENST00000380881.4	-	38	7292	c.6477G>A	c.(6475-6477)ggG>ggA	p.G2159G	FREM1_ENST00000380880.3_Silent_p.G2158G|FREM1_ENST00000422223.2_Silent_p.G2158G|FREM1_ENST00000380894.1_Silent_p.G694G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2158	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTGCCATTTCCCTTGTCTTT	0.473000													14	6					0	0	1	0	0
MAPK14	1432	broad.mit.edu	37	6	36070422	36070422	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:36070422C>T	ENST00000229795.3	+	10	1284	c.837C>T	c.(835-837)ccC>ccT	p.P279P	MAPK14_ENST00000229794.4_Silent_p.P279P|MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Silent_p.P202P	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	279	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						GTGCCAATCCCCTGGGTAAGT	0.368000													67	125					0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42754644	42754644	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:42754644A>C	ENST00000222329.4	-	2	253	c.96T>G	c.(94-96)ttT>ttG	p.F32L	ERF_ENST00000440177.2_5'UTR|ERF_ENST00000595941.1_5'UTR|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	32					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GCTCCAGGATAAAGTGCCACA	0.627000													19	35					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23810627	23810627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:23810627C>T	ENST00000354639.3	+	14	2112	c.1648C>T	c.(1648-1650)Caa>Taa	p.Q550*	STK31_ENST00000355870.3_Nonsense_Mutation_p.Q573*|STK31_ENST00000433467.2_Nonsense_Mutation_p.Q573*|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Nonsense_Mutation_p.Q550*	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	573							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CATTTAGGATCAAGGTGATGC	0.338000													21	58					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215845251	215845251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:215845251C>T	ENST00000272895.7	-	31	4915	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K	ABCA12_ENST00000389661.4_Missense_Mutation_p.E1248K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1566	ABC transporter 1.				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)		CCAAAGGCTTCCTTGAGGTAA	0.488000													24	40					0	0	1	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16502464	16502464	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:16502464G>A	ENST00000396652.1	-	5	1114	c.402C>T	c.(400-402)ctC>ctT	p.L134L	SOSTDC1_ENST00000307068.4_Silent_p.L110L			Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	110	CTCK.				Wnt receptor signaling pathway					central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TCCAGTTAGGGAGCACTGGCA	0.562000													22	49					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133218418	133218418	+	Silent	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:133218418A>T	ENST00000320574.5	-	39	5236	c.5193T>A	c.(5191-5193)ctT>ctA	p.L1731L	POLE_ENST00000535270.1_Silent_p.L1704L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1731					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCAGGTTCTGAAGGTCCAGCT	0.617000								DNA polymerases (catalytic subunits)					25	54					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170295	113170295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:113170295G>A	ENST00000401783.2	-	38	7921	c.7585C>T	c.(7585-7587)Cgg>Tgg	p.R2529W	SVEP1_ENST00000374469.1_Missense_Mutation_p.R2506W|SVEP1_ENST00000297826.5_Missense_Mutation_p.R455W	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2529	Sushi 19.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTTCGAGCCGAAAGCCTCGG	0.498000													6	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179442220	179442220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:179442220G>A	ENST00000589042.1	-	324	69066	c.68842C>T	c.(68842-68844)Ctt>Ttt	p.L22948F	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L14075F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L20380F|TTN_ENST00000460472.2_Missense_Mutation_p.L13883F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L14008F|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L21307F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21307	Fibronectin type-III 66.						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)			GTGGGATCAAGGACAATTGTT	0.333000													6	12					0	0	1	0	0
ZNF728	388523	broad.mit.edu	37	19	23159540	23159540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:23159540G>A	ENST00000594710.1	-	4	744	c.599C>T	c.(598-600)tCc>tTc	p.S200F		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		ACTTTTGTAGGAATTCTCTCT	0.348000													7	25					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3150291	3150291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:3150291G>A	ENST00000263650.7	-	2	247	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	OSBPL5_ENST00000389989.3_Missense_Mutation_p.R30W|OSBPL5_ENST00000348039.5_Missense_Mutation_p.R30W|OSBPL5_ENST00000542243.1_5'UTR	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	30					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGCAAGTTCCGGGTGAGCTTC	0.662000													3	9					0	0	1	0	0
C3orf22	152065	broad.mit.edu	37	3	126270845	126270845	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:126270845G>A	ENST00000318225.2	-	3	588	c.210C>T	c.(208-210)gtC>gtT	p.V70V		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	70										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CTTACCCTCGGACTGGGATGG	0.612000													19	63					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142680139	142680139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:142680139G>A	ENST00000343796.2	-	5	2651	c.1658C>T	c.(1657-1659)cCa>cTa	p.P553L	NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000504572.1_Missense_Mutation_p.P554L|NR3C1_ENST00000394464.2_Missense_Mutation_p.P553L|NR3C1_ENST00000416954.2_Missense_Mutation_p.P156L|NR3C1_ENST00000424646.2_Missense_Mutation_p.P527L|NR3C1_ENST00000231509.3_Missense_Mutation_p.P554L|NR3C1_ENST00000415690.2_Missense_Mutation_p.P553L|NR3C1_ENST00000503201.1_Missense_Mutation_p.P553L|NR3C1_ENST00000394466.2_Missense_Mutation_p.P554L	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	553	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	AGTTGAGTCTGGAACAGAGCT	0.468000													78	237					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75983118	75983118	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:75983118C>T	ENST00000308508.5	-	3	380	c.288G>A	c.(286-288)ctG>ctA	p.L96L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	96	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTGGAGTCTGCAGCCTCAGCT	0.547000													4	104					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178985967	178985967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:178985967C>T	ENST00000286070.5	+	5	826	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	247					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GAAGCAATCTCCAAACGCTTG	0.353000													13	25					0	0	1	0	0
SFXN3	81855	broad.mit.edu	37	10	102797185	102797185	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:102797185G>A	ENST00000393459.1	+	9	1241	c.768G>A	c.(766-768)ctG>ctA	p.L256L	SFXN3_ENST00000466982.1_3'UTR|SFXN3_ENST00000224807.5_Silent_p.L260L			Q9BWM7	SFXN3_HUMAN	sideroflexin 3	260					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AAGACTTCCTGAAGGTAGGCG	0.537000													64	103					0	0	1	0	0
LEPREL2	10536	broad.mit.edu	37	12	6941017	6941017	+	RNA	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:6941017T>C	ENST00000251761.8	+	0	1184				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						CTCCGATCCCTGGGGGAGAAG	0.612000													4	11					0	0	1	0	0
COMMD4	54939	broad.mit.edu	37	15	75631649	75631649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:75631649C>T	ENST00000267935.8	+	6	545	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	COMMD4_ENST00000564815.1_Missense_Mutation_p.P94S|COMMD4_ENST00000562789.1_Missense_Mutation_p.P122S|COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000338995.6_Missense_Mutation_p.P116S	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	116						cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						GAAGCAAAGCCCCTTGCAGAA	0.602000													8	31					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506870	155506870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:155506870G>A	ENST00000302053.3	-	5	1789	c.1711C>T	c.(1711-1713)Cct>Tct	p.P571S	FGA_ENST00000403106.3_Missense_Mutation_p.P571S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	571					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCACGGGAAGGGAATTCAGCT	0.433000													35	39					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153808	5153808	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:5153808C>T	ENST00000252321.3	+	1	724	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	165						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						AGTACTTCTTCGACCGCAACC	0.667000													33	50					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58258686	58258686	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:58258686G>A	ENST00000300896.4	-	32	4741	c.4548_splice	c.e32+1	p.S1516_splice	USP32_ENST00000592339.1_Splice_Site_p.S1186_splice	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1516					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACCACTTACCGAAATTGCATA	0.363000													22	64					0	0	1	0	0
PDPK2P	653650	broad.mit.edu	37	16	2692193	2692193	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:2692193C>T	ENST00000382326.1	-	0	1068																											CCAAGGAAATCACGTACGTTT	0.557000													20	33					0	0	1	0	0
PTN	5764	broad.mit.edu	37	7	136938237	136938237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:136938237G>A	ENST00000348225.2	-	3	690	c.263C>T	c.(262-264)cCc>cTc	p.P88L	PTN_ENST00000393083.2_Missense_Mutation_p.P88L	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	88					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CCAGTTGCAGGGGATCTTACA	0.488000													29	68					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711683	140711683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140711683G>A	ENST00000517417.1	+	1	1432	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D478N	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGCCCACGACTTGGACAG	0.517000													79	92					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48325351	48325351	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:48325351G>A	ENST00000376876.3	-	4	1086	c.243C>T	c.(241-243)ttC>ttT	p.F81F	SLC38A5_ENST00000376875.1_Silent_p.F30F|SLC38A5_ENST00000317669.5_Silent_p.F81F			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	81					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GGACTCACAGGAAGAAGATGA	0.647000											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	7					0	0	1	0	0
DDA1	79016	broad.mit.edu	37	19	17426787	17426787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:17426787C>T	ENST00000359866.4	+	4	305	c.181C>T	c.(181-183)Cag>Tag	p.Q61*		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	61										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CTACCTGCATCAGCAATGGGA	0.577000													78	144					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306490	61306490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:61306490C>T	ENST00000341074.5	-	7	812	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	SERPINB4_ENST00000356424.6_Intron	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TATGGTATTTCCAGGACCTTG	0.398000													25	38					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569100	61569100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:61569100C>T	ENST00000457692.1	+	7	995	c.662C>T	c.(661-663)cCt>cTt	p.P221L	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Missense_Mutation_p.P221L	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	221					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGGCTTTATCCTTTCCGTGTA	0.393000													14	65					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42817404	42817404	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:42817404C>T	ENST00000398600.2	+	14	2063	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	MX1_ENST00000398598.3_Silent_p.I346I|MX1_ENST00000455164.2_Silent_p.I346I|MX1_ENST00000288383.6_Silent_p.I323I	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	346					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AAAATCAAATCAAGGAGACTC	0.408000													30	47					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28030318	28030318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:28030318C>T	ENST00000375790.5	-	3	736	c.304G>A	c.(304-306)Gag>Aag	p.E102K	MKX_ENST00000419761.1_Missense_Mutation_p.E102K			Q8IYA7	MKX_HUMAN	mohawk homeobox	102					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E102K(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						AGTATCTTCTCGGTCTTGGTG	0.602000													38	73					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55518375	55518375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:55518375G>A	ENST00000302118.5	+	5	1000	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	PCSK9_ENST00000452118.2_3'UTR|PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.R37Q	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	237	Peptidase S8.		R -> W.		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTCAGCGGCCGGGATGCCGGC	0.647000													17	38					0	0	1	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131774560	131774560	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:131774560C>T	ENST00000372564.3	-	6	724	c.579G>A	c.(577-579)caG>caA	p.Q193Q	SH3GLB2_ENST00000372559.1_Silent_p.Q193Q|SH3GLB2_ENST00000372554.4_Silent_p.Q197Q|SH3GLB2_ENST00000417224.1_Silent_p.Q193Q|SH3GLB2_ENST00000416629.1_Intron	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	193	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						GTCTAGTCTCCTGAAAGTCAG	0.652000													3	7					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142625962	142625962	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142625962C>T	ENST00000265310.1	-	6	935		c.e6-1		TRPV5_ENST00000442623.1_Splice_Site	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5						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)					ACTGTGTTTCCTGGGGAGGAC	0.552000													35	53					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1255420	1255420	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:1255420G>A	ENST00000310581.5	-	14	3196	c.3139C>T	c.(3139-3141)Ctg>Ttg	p.L1047L	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Silent_p.L984L	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1047	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTGGCTTTCAGGATGGAGTAG	0.557000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				11	19					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233746934	233746934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:233746934C>T	ENST00000264051.3	-	13	2077	c.1799G>A	c.(1798-1800)aGg>aAg	p.R600K	NGEF_ENST00000539537.1_Missense_Mutation_p.R323K|NGEF_ENST00000373552.4_Missense_Mutation_p.R508K	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	600	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CTTGGTCCTCCTGTTGGGGGC	0.612000													12	23					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117199609	117199609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:117199609C>T	ENST00000003084.6	+	11	1616	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	CFTR_ENST00000454343.1_Missense_Mutation_p.S434F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	495	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTCAGTTTTCCTGGATTATG	0.383000									Cystic Fibrosis				25	46					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119100597	119100597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:119100597G>A	ENST00000334464.5	-	2	1128	c.889C>T	c.(889-891)Cca>Tca	p.P297S		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	297					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTCTGGTATGGAAAAAACGGC	0.353000													13	23					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66466947	66466947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:66466947G>A	ENST00000533211.1	-	18	4037	c.3706C>T	c.(3706-3708)Cgc>Tgc	p.R1236C	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1236C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1236C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1236					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ACCAGCTGGCGGCCAGCCTCC	0.552000													50	52					0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38082197	38082197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:38082197C>T	ENST00000356545.2	-	5	1032	c.245G>A	c.(244-246)gGa>gAa	p.G82E	RSPO1_ENST00000401069.1_Missense_Mutation_p.G82E|RSPO1_ENST00000373059.1_Missense_Mutation_p.G55E|RSPO1_ENST00000401068.1_Missense_Mutation_p.G82E|RSPO1_ENST00000401071.2_Missense_Mutation_p.G82E|RSPO1_ENST00000401070.1_Missense_Mutation_p.G82E	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	82					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCGAAGTATCCAGGTGGGCA	0.617000													38	60					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	808727	808727	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:808727C>T	ENST00000356948.6	+	13	1851	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	PTBP1_ENST00000394601.4_Silent_p.F469F|PTBP1_ENST00000350092.4_Silent_p.F116F|PTBP1_ENST00000349038.4_Silent_p.F450F	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	450	RRM 4.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAACATATTCCCGCCCTCGG	0.672000													11	11					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114186546	114186546	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:114186546G>A	ENST00000393081.1	+	20	2147	c.1839_splice	c.e20-1	p.V614_splice	ACSL5_ENST00000433418.1_Intron|ACSL5_ENST00000354655.4_Splice_Site_p.V614_splice|ACSL5_ENST00000354273.4_Splice_Site_p.V614_splice|ACSL5_ENST00000369410.3_Splice_Site_p.V396_splice|ACSL5_ENST00000356116.1_Splice_Site_p.V670_splice	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	614					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GTATTCTTAGGTTGTAAGGGA	0.408000													12	37					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30819689	30819689	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:30819689G>A	ENST00000282538.5	-	14	1524	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	GADL1_ENST00000498387.1_5'UTR	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	458					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	GTTTTGCCCAGAACTCGGGTC	0.343000													39	38					0	0	1	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229374	90229374	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:90229374C>T	ENST00000390278.2	+	0	214																											CCAGGGAAATCCCCTAAGCTC	0.493000													18	27					0	0	1	0	0
S100A6	6277	broad.mit.edu	37	1	153507178	153507178	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:153507178C>T	ENST00000496817.1	-	3	569	c.267G>A	c.(265-267)aaG>aaA	p.K89K	BX470102.3_ENST00000420695.1_RNA|S100A6_ENST00000368720.2_Silent_p.K89K|S100A6_ENST00000368719.4_Silent_p.K89K			P06703	S10A6_HUMAN	S100 calcium binding protein A6	89					axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATTTTCAGCCCTTGAGGGCTT	0.468000													44	35					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144733037	144733037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:144733037C>T	ENST00000501748.2	+	1	1084	c.995C>T	c.(994-996)tCa>tTa	p.S332L	ZNF623_ENST00000458270.2_Missense_Mutation_p.S292L|ZNF623_ENST00000526926.1_Missense_Mutation_p.S292L	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	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;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ATTCGGAGTTCAAAGCTCATT	0.493000													42	57					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													4	154					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11648316	11648316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:11648316G>A	ENST00000262442.3	+	31	6382	c.6314G>A	c.(6313-6315)cGg>cAg	p.R2105Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2105Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2105					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)		GATGTCCCCCGGAGGAGAGAC	0.537000													21	66					0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255117	30255117	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:30255117G>A	ENST00000417547.1	+	3	199	c.159_splice	c.e3-1	p.D54_splice	FSHB_ENST00000254122.3_Splice_Site_p.D54_splice|FSHB_ENST00000533718.1_Splice_Site_p.D54_splice	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	54					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	AACTCCTCAGGATCTGGTGTA	0.428000													10	32					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401153	10401153	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:10401153C>T	ENST00000226207.5	-	31	4357	c.4263G>A	c.(4261-4263)acG>acA	p.T1421T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1421						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCTCTGCTTCGTCTTCTCAA	0.473000													25	72					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155239621	155239621	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:155239621C>T	ENST00000424344.3	+	10	1417	c.1050C>T	c.(1048-1050)gcC>gcT	p.A350A	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000244174.5_Silent_p.A371A			Q01113	IL9R_HUMAN	interleukin 9 receptor	371					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATCTGTGGCCCTGGAGGAGG	0.657000													19	54					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10089604	10089604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:10089604C>T	ENST00000287647.3	+	16	1375	c.1282C>T	c.(1282-1284)Ctt>Ttt	p.L428F	FANCD2_ENST00000383806.1_Missense_Mutation_p.L428F|FANCD2_ENST00000419585.1_Missense_Mutation_p.L428F|FANCD2_ENST00000383807.1_Missense_Mutation_p.L428F	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	428					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ACTCAAGGTTCTTAAGGATAT	0.413000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				91	165					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147159	26147159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:26147159C>T	ENST00000331351.5	+	2	1353	c.961C>T	c.(961-963)Ctc>Ttc	p.L321F	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	321					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AAACCGGACCCTCGGGCTGAT	0.547000													68	134					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34657825	34657825	+	Silent	SNP	A	A	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:34657825A>G	ENST00000314891.6	-	2	369	c.192T>C	c.(190-192)ttT>ttC	p.F64F	LPCAT4_ENST00000562431.1_5'UTR	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	64					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GAAGCCAGGCAAAGGGCCAGA	0.572000													16	46					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108011178	108011178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:108011178G>A	ENST00000280758.5	+	9	2724	c.2196G>A	c.(2194-2196)atG>atA	p.M732I	BTBD11_ENST00000490090.2_Missense_Mutation_p.M732I|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000357167.4_Missense_Mutation_p.M269I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	732						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						AGGGTGATATGAACTCTTTCA	0.517000													20	38					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109861728	109861728	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:109861728C>T	ENST00000399132.1	-	10	1169	c.639G>A	c.(637-639)ggG>ggA	p.G213G	COL25A1_ENST00000399127.1_Silent_p.G209G|COL25A1_ENST00000399126.1_Silent_p.G213G	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	213	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGCCATCTTTCCCTGTGTCCC	0.582000													65	66					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86801252	86801252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:86801252G>A	ENST00000441037.2	+	8	916	c.821G>A	c.(820-822)gGg>gAg	p.G274E	AGBL1_ENST00000421325.2_Missense_Mutation_p.G274E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	274	Asp-rich.				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						ACTGAAGATGGGAAAGTGGAA	0.428000													33	63					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78078436	78078436	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:78078436C>T	ENST00000302262.3	+	2	270	c.51C>T	c.(49-51)gcC>gcT	p.A17A	GAA_ENST00000390015.3_Silent_p.A17A	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	17					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCGTCTGCGCCCTCGTGTCCT	0.652000													15	40					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31799634	31799634	+	Silent	SNP	C	C	T	rs146790239		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:31799634C>T	ENST00000438447.1	+	2	667	c.279C>T	c.(277-279)ttC>ttT	p.F93F	PDZD2_ENST00000282493.3_Silent_p.F93F			O15018	PDZD2_HUMAN	PDZ domain containing 2	93	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCCTGTTTTCGGGGACTATG	0.567000													40	257					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40810395	40810395	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:40810395G>A	ENST00000381782.2	+	12	2091	c.1596G>A	c.(1594-1596)ggG>ggA	p.G532G	NSUN7_ENST00000316607.5_3'UTR	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TGCTGGATGGGATTGAGTTGG	0.418000													22	38					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								3	10					0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68468991	68468991	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:68468991G>A	ENST00000545237.1	+	12	2227	c.1487_splice	c.e12+1	p.G496_splice	PIAS1_ENST00000567417.1_3'UTR|PIAS1_ENST00000249636.6_Splice_Site_p.G494_splice			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	494					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AAATAATAAAGGGTAAGTGCT	0.363000													8	28					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69369170	69369170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:69369170G>A	ENST00000306875.4	-	3	781	c.667C>T	c.(667-669)Cct>Tct	p.P223S	COG8_ENST00000562081.1_Missense_Mutation_p.P223S|RP11-343C2.9_ENST00000563634.1_Missense_Mutation_p.P98S	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	223					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						AGGCAGGCAGGAAGCTGGATG	0.572000													10	18					0	0	1	0	0
BASP1	10409	broad.mit.edu	37	5	17275866	17275866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:17275866C>T	ENST00000322611.3	+	2	801	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	181					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						GGAGGCTGCCCCCTCTTCCAA	0.672000													14	21					0	0	1	0	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185366	32185366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:32185366G>A	ENST00000329621.4	-	1	204	c.173C>T	c.(172-174)tCg>tTg	p.S58L		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	58						intermediate filament				central_nervous_system(1)|large_intestine(1)|lung(4)	6						AGCAAATGGCGAGTATCTCCT	0.557000													30	82					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85742679	85742679	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:85742679G>A	ENST00000322366.6	-	11	1556	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	WDFY3_ENST00000295888.4_Silent_p.A383A			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	383						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAACTGCAAAGGCCTGGACGT	0.363000													34	35					0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7028903	7028903	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:7028903C>T	ENST00000535366.1	+	7	1467	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	ENO2_ENST00000545045.2_Nonsense_Mutation_p.Q162*|ENO2_ENST00000538763.1_Nonsense_Mutation_p.Q238*|ENO2_ENST00000541477.1_Nonsense_Mutation_p.Q281*|ENO2_ENST00000229277.1_Nonsense_Mutation_p.Q281*|ENO2_ENST00000544774.1_Nonsense_Mutation_p.Q238*			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	281					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGCACTCTACCAGGACTTTGT	0.557000													25	39					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42107506	42107506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:42107506C>T	ENST00000457542.2	+	11	1506	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.S413F|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S407F|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.S290F	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	413										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCCCCAGTTCCTTTATTACC	0.582000													16	36					0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159195525	159195525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:159195525C>T	ENST00000283233.5	-	6	872	c.559G>A	c.(559-561)Gat>Aat	p.D187N	CCDC148_ENST00000409889.1_Missense_Mutation_p.D187N|CCDC148_ENST00000409187.1_Missense_Mutation_p.D196N|CCDC148_ENST00000536771.1_Missense_Mutation_p.D101N	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	187										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCTGAAAGATCATTTTCTATT	0.308000													19	35					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96443702	96443702	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:96443702C>T	ENST00000285979.6	+	1	325	c.126C>T	c.(124-126)atC>atT	p.I42I	CYP2C18_ENST00000339022.5_Silent_p.I42I	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTGGAAATATCCTGCAGTTAG	0.448000													9	17					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8009853	8009853	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:8009853G>A	ENST00000318888.4	-	15	1525	c.654C>T	c.(652-654)tcC>tcT	p.S218S	ABLIM2_ENST00000505872.1_Silent_p.S431S|ABLIM2_ENST00000546334.1_Silent_p.S442S|ABLIM2_ENST00000447017.2_Silent_p.S517S|ABLIM2_ENST00000514025.1_Silent_p.S218S|ABLIM2_ENST00000428004.2_Silent_p.S443S|ABLIM2_ENST00000296372.8_Silent_p.S484S|ABLIM2_ENST00000545242.1_Silent_p.S483S|ABLIM2_ENST00000361737.5_Silent_p.S442S|ABLIM2_ENST00000361581.5_Silent_p.S483S|ABLIM2_ENST00000341937.5_Silent_p.S483S|ABLIM2_ENST00000407564.3_Silent_p.S432S			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	483	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TGTGGGACAAGGACTGGGTGT	0.537000													60	70					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134981782	134981782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:134981782C>T	ENST00000304613.3	+	3	347	c.326C>T	c.(325-327)cCc>cTc	p.P109L	KNDC1_ENST00000530127.1_3'UTR|KNDC1_ENST00000368571.2_Missense_Mutation_p.P44L|KNDC1_ENST00000368572.2_Missense_Mutation_p.P109L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	109	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCCTTCGTTCCCCCCGAGTTC	0.587000													36	77					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40810394	40810394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:40810394G>A	ENST00000381782.2	+	12	2090	c.1595G>A	c.(1594-1596)gGg>gAg	p.G532E	NSUN7_ENST00000316607.5_3'UTR	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTGCTGGATGGGATTGAGTTG	0.423000													22	37					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11078575	11078575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:11078575G>A	ENST00000287766.4	+	16	2144	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	SLC6A1_ENST00000536032.1_Missense_Mutation_p.E397K	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	575					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCAGCCCAGCGAAGACATCGT	0.642000													26	81					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142222461	142222461	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:142222461G>A	ENST00000519067.1	-	7	2286	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	SLC45A4_ENST00000517878.1_Silent_p.F712F|SLC45A4_ENST00000433583.2_Silent_p.F654F|SLC45A4_ENST00000024061.3_Silent_p.F661F			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	712					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGATCACCAGGAATGTGGCCG	0.647000													5	26					0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34330038	34330038	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:34330038G>A	ENST00000522796.1	+	4	2151	c.246G>A	c.(244-246)agG>agA	p.R82R	HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Silent_p.R82R			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	82						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTGGCAAGAGGAAGAAACGGA	0.502000													52	72					0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20796893	20796893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:20796893C>T	ENST00000356192.6	-	5	1347	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	GJB6_ENST00000241124.6_Missense_Mutation_p.E243K|GJB6_ENST00000400066.3_Missense_Mutation_p.E243K|GJB6_ENST00000400065.3_Missense_Mutation_p.E243K	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	243					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TCATTCATTTCATTCTGCTTA	0.413000													86	97					0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26218212	26218212	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:26218212C>T	ENST00000405154.2	+	3	1084	c.885C>T	c.(883-885)atC>atT	p.I295I	RASSF8_ENST00000282884.9_Silent_p.I295I|RASSF8_ENST00000381352.3_Silent_p.I295I|RASSF8_ENST00000542865.1_Silent_p.I295I|RASSF8_ENST00000541490.1_Silent_p.I295I	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	295					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					AAGGAAAGATCGGTAAGGTCA	0.468000													27	57					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841610	94841610	+	Missense_Mutation	SNP	G	G	A	rs149237812	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:94841610G>A	ENST00000357742.4	+	1	116	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	MCTP2_ENST00000543482.1_Missense_Mutation_p.R39Q|MCTP2_ENST00000451018.3_Missense_Mutation_p.R39Q|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	39					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCAGATCTACGGGCAAGGCAT	0.572000													21	28					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997013	82997013	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:82997013C>T	ENST00000307792.3	-	17	2684	c.2217G>A	c.(2215-2217)agG>agA	p.R739R	SEMA3E_ENST00000427262.1_Silent_p.R679R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	739	Arg/Lys-rich (basic).				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TAAGCTTTTTCCTCTTTCTAT	0.473000													39	62					0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90585122	90585122	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:90585122C>G	ENST00000406263.1	+	8	1241	c.799C>G	c.(799-801)Ctt>Gtt	p.L267V	CDK14_ENST00000265741.3_Missense_Mutation_p.L295V|CDK14_ENST00000380050.3_Missense_Mutation_p.L313V|CDK14_ENST00000436577.2_Missense_Mutation_p.L184V			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	313	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TTCCACCTGCCTTGACATGTG	0.453000													23	51					0	0	1	0	0
MCAT	27349	broad.mit.edu	37	22	43533179	43533179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:43533179C>A	ENST00000290429.5	-	3	682	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	MCAT_ENST00000327555.5_Intron	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	213					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TTGCAGTGTTCCCGGGCTTCC	0.537000											OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	100					2.54232e-27	2.5736e-27	1	1	0
ZNF526	116115	broad.mit.edu	37	19	42728983	42728983	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:42728983G>T	ENST00000301215.3	+	3	653	c.428G>T	c.(427-429)tGg>tTg	p.W143L		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TACCAGTGCTGGGACTGCCAG	0.622000													35	63					4.14481e-20	4.19008e-20	1	1	0
CAPN3	825	broad.mit.edu	37	15	42652221	42652221	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:42652221T>A	ENST00000397163.3	+	1	437	c.218T>A	c.(217-219)gTt>gAt	p.V73D	CAPN3_ENST00000318023.7_Missense_Mutation_p.V73D|CAPN3_ENST00000357568.3_Missense_Mutation_p.V73D|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000349748.3_Missense_Mutation_p.V73D	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	73					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GAAAAGAAAGTTCTTTATGTG	0.458000													89	156					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106321789	106321789	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:106321789G>A	ENST00000390559.2	-	0	444																											CCCTCGCGCAGCCAGGACACC	0.652000													21	24					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140767861	140767861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140767861C>T	ENST00000519479.1	+	1	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_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)			ACGCAAAATTCCTTTGAGCTG	0.433000													38	23					0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25781078	25781078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:25781078G>A	ENST00000428257.1	-	5	978	c.871C>T	c.(871-873)Cga>Tga	p.R291*	NGLY1_ENST00000280700.5_Nonsense_Mutation_p.R291*|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.R249*|NGLY1_ENST00000396649.3_Nonsense_Mutation_p.R291*|NGLY1_ENST00000422724.2_Intron	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	291					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						CTTGGGAATCGATTGCTGAAC	0.383000													44	118					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38995000	38995000	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:38995000G>A	ENST00000355481.4	+	50	8198	c.8067_splice	c.e50+1	p.K2689_splice	RYR1_ENST00000360985.3_Splice_Site_p.K2689_splice|RYR1_ENST00000359596.3_Splice_Site_p.K2689_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2689	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGCCCATAAGGTCTGGGCAG	0.582000													10	23					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727670	20727670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:20727670G>A	ENST00000427401.4	-	4	1433	c.1339C>T	c.(1339-1341)Cat>Tat	p.H447Y		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	447					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTCCAGTATGAATTCTCTTA	0.413000													18	48					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156849848	156849848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:156849848C>T	ENST00000368196.3	+	15	2206	c.2086C>T	c.(2086-2088)Cgt>Tgt	p.R696C	NTRK1_ENST00000392302.2_Missense_Mutation_p.R666C|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000524377.1_Missense_Mutation_p.R702C|NTRK1_ENST00000358660.3_Missense_Mutation_p.R699C	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	702	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CATCCTGTACCGTAAGTTCAC	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			31	94					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766276	43766276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:43766276G>A	ENST00000244293.7	-	3	511	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.P149S|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.P149S			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	149	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GAGATGTAGGGCTTGGGAGTC	0.512000													76	127					0	0	1	0	0
GET4	51608	broad.mit.edu	37	7	933448	933448	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:933448A>T	ENST00000407192.1	+	6	3176	c.659A>T	c.(658-660)aAc>aTc	p.N220I	GET4_ENST00000265857.3_Missense_Mutation_p.N273I			Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	273					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCATGTACAACGAGGTGAGA	0.647000													11	15					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160111091	160111091	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:160111091G>A	ENST00000361216.3	+	23	3131	c.3042G>A	c.(3040-3042)gtG>gtA	p.V1014V	ATP1A2_ENST00000392233.3_Silent_p.V1003V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1014					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)			CAGGCTGGGTGGAGAAGGAGA	0.527000													17	67					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834659	125834659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:125834659G>A	ENST00000299308.3	+	2	722	c.714G>A	c.(712-714)tgG>tgA	p.W238*		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	238						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGGCAAGTGGGAGAACAATA	0.597000													17	32					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47042819	47042819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:47042819C>T	ENST00000450053.3	+	29	4714	c.4535C>T	c.(4534-4536)cCc>cTc	p.P1512L	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.P1328L	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1512							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AAAGAGGCCCCCGTGGGGGTC	0.607000													24	54					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113307728	113307728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:113307728G>A	ENST00000389385.4	+	10	1177	c.680G>A	c.(679-681)gGa>gAa	p.G227E	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.G227E|RPH3A_ENST00000548866.1_Missense_Mutation_p.G178E|RPH3A_ENST00000551052.1_Missense_Mutation_p.G223E|RPH3A_ENST00000543106.2_Missense_Mutation_p.G227E|RPH3A_ENST00000420983.2_Missense_Mutation_p.G227E|RPH3A_ENST00000447659.2_Missense_Mutation_p.G178E	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	227	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCCGGGCGAGGAAACTATGGG	0.577000													23	59					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655948	40655948	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:40655948G>A	ENST00000406785.1	-	2	1662	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	SLC8A1_ENST00000542756.1_Silent_p.F491F|SLC8A1_ENST00000542024.1_Silent_p.F491F|SLC8A1_ENST00000405901.3_Silent_p.F491F|SLC8A1_ENST00000405269.1_Silent_p.F491F|SLC8A1_ENST00000408028.2_Silent_p.F491F|SLC8A1_ENST00000403092.1_Silent_p.F491F|SLC8A1_ENST00000402441.1_Silent_p.F491F|SLC8A1_ENST00000332839.4_Silent_p.F491F|SLC8A1_ENST00000406391.2_Silent_p.F491F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	491	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GATGCACAAGGAAATTTTCAT	0.418000													8	26					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30735796	30735796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:30735796C>T	ENST00000262518.4	+	25	5436	c.5051C>T	c.(5050-5052)gCc>gTc	p.A1684V	SRCAP_ENST00000395059.2_Missense_Mutation_p.A1622V|SRCAP_ENST00000344771.4_Missense_Mutation_p.A1526V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1684	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGGCCCTAGCCCCAGCTTTA	0.577000													51	116					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43795856	43795856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:43795856G>A	ENST00000291532.3	-	12	2271	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	TMPRSS3_ENST00000433957.2_Missense_Mutation_p.S438F|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.S436F|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.S523F|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	439	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GTCCAGGAAGGAGGTGACACG	0.597000													42	60					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38523535	38523535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:38523535C>T	ENST00000263409.4	-	5	709	c.547G>A	c.(547-549)Gag>Aag	p.E183K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.E183K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	183					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTTACGAGCTCCATACTCTCT	0.343000			T	PLAG1	salivary adenoma								53	108					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183050720	183050720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:183050720G>A	ENST00000435564.1	-	13	1663	c.1463C>T	c.(1462-1464)cCa>cTa	p.P488L	PDE1A_ENST00000536095.1_Missense_Mutation_p.P384L|PDE1A_ENST00000358139.2_Missense_Mutation_p.P488L|PDE1A_ENST00000331935.6_Missense_Mutation_p.P488L|PDE1A_ENST00000351439.5_Missense_Mutation_p.P472L|PDE1A_ENST00000410103.1_Missense_Mutation_p.P488L|PDE1A_ENST00000346717.4_Missense_Mutation_p.P454L|PDE1A_ENST00000456212.1_Missense_Mutation_p.P488L|PDE1A_ENST00000409365.1_Missense_Mutation_p.P472L	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	488	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GGAGTAGTCTGGGGAATAGGA	0.463000													13	27					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137293577	137293577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:137293577C>T	ENST00000481739.1	+	2	180	c.128C>T	c.(127-129)tCc>tTc	p.S43F	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	43	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GGCATCGGCTCCCCGGGACAG	0.687000													42	55					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067802	190067802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:190067802C>T	ENST00000367462.3	-	8	1878	c.1647G>A	c.(1645-1647)atG>atA	p.M549I	FAM5C_ENST00000534846.1_Missense_Mutation_p.M447I|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		549						extracellular region				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)					GACCCAAAATCATATGGACCA	0.473000													20	66					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13770902	13770902	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:13770902G>A	ENST00000265104.4	-	56	9665	c.9561C>T	c.(9559-9561)ttC>ttT	p.F3187F	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3187	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCCATATATGAACTTATAGC	0.458000									Kartagener syndrome				16	29					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1208886	1208886	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:1208886C>T	ENST00000304460.10	+	2	284	c.228C>T	c.(226-228)atC>atT	p.I76I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	76					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTTCCTCATCCTGCTGGTCC	0.672000													67	26					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925050	4925050	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrY:4925050C>T	ENST00000333703.4	+	4	666	c.153C>T	c.(151-153)atC>atT	p.I51I	PCDH11Y_ENST00000215473.6_Silent_p.I62I|PCDH11Y_ENST00000362095.5_Silent_p.I62I	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	62					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACTACACCATCCGAGAAGAAA	0.463000													17	6					0	0	1	0	0
DCAF7	10238	broad.mit.edu	37	17	61666411	61666411	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:61666411C>T	ENST00000310827.4	+	8	1123	c.906C>T	c.(904-906)gcC>gcT	p.A302A	DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000415273.2_Silent_p.A102A	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	302					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TGCCCCGAGCCATTGAGGACC	0.542000													15	44					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43570367	43570367	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:43570367G>A	ENST00000216129.6	-	8	1140	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	359	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TCTCGCAGGGGAACTGGTTCA	0.692000													12	29					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76411014	76411014	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:76411014C>A	ENST00000262764.6	+	8	1483	c.1457C>A	c.(1456-1458)tCt>tAt	p.S486Y	PGS1_ENST00000329897.7_Missense_Mutation_p.S351Y|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	486	PLD phosphodiesterase 2.				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTGATTGGCTCTCCTAATTTT	0.587000													50	35					1.72845e-40	1.75211e-40	1	1	0
ARSD	414	broad.mit.edu	37	X	2825384	2825384	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:2825384C>T	ENST00000381154.1	-	10	1785	c.1710G>A	c.(1708-1710)aaG>aaA	p.K570K		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	570						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAGCCACGGCTTCCACAGGA	0.612000													19	3					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858006	9858006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:9858006G>A	ENST00000396573.2	-	14	3704	c.3395C>T	c.(3394-3396)cCa>cTa	p.P1132L	GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1132L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1132L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P1132L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P1132L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P975L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1132					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P1132L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAACTGGGGTGGATCTAAGTG	0.532000													41	71					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178985968	178985968	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:178985968C>T	ENST00000286070.5	+	5	827	c.735C>T	c.(733-735)tcC>tcT	p.S245S		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	247					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AAGCAATCTCCAAACGCTTGT	0.353000													14	26					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166850909	166850909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:166850909C>T	ENST00000423058.2	-	25	4616	c.4599G>A	c.(4597-4599)atG>atA	p.M1533I	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.M1533I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.M1522I|SCN1A_ENST00000409050.1_Missense_Mutation_p.M1505I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1533						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGTCAAAGACCATTCCTTGAA	0.353000													5	12					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38738238	38738238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:38738238G>A	ENST00000359357.3	+	10	1270	c.1016G>A	c.(1015-1017)aGg>aAg	p.R339K	DNAH8_ENST00000441566.1_Missense_Mutation_p.R339K|DNAH8_ENST00000449981.2_Missense_Mutation_p.R556K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CATAAAACAAGGAAACTGATT	0.323000													14	27					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616713	79616713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:79616713C>T	ENST00000296739.4	+	1	924	c.679C>T	c.(679-681)Cag>Tag	p.Q227*		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TCAACAAAGTCAGGAAAAAGC	0.353000													7	35					0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51930911	51930911	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:51930911C>T	ENST00000310914.5	-	3	171		c.e3-1			NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGTTTTAGCCTGAAAAGGAA	0.428000													29	92					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921455	24921455	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:24921455G>A	ENST00000329468.2	+	1	915	c.441G>A	c.(439-441)gaG>gaA	p.E147E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTCTCCTGGAGGAGACCGAGG	0.607000													10	33					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37720449	37720449	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:37720449G>A	ENST00000330843.4	-	6	3828	c.3816C>T	c.(3814-3816)atC>atT	p.I1272I	RAB11FIP1_ENST00000287263.4_Silent_p.I638I|RAB11FIP1_ENST00000522727.1_Silent_p.I490I|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1272	FIP-RBD.|Necessary for interaction with RAB4A and RAB11A, subcellular location and endosomal recycling.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCTGAGTCGGGATGCGGAGGA	0.483000													61	61					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65347940	65347940	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:65347940C>T	ENST00000309295.4	+	6	889	c.624C>T	c.(622-624)gtC>gtT	p.V208V		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	208										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGCTCGAGTCCCCCAGCCAG	0.637000													14	62					0	0	1	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280073	22280073	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:22280073G>A	ENST00000390431.3	+	0	262																											GTACCGTAAAGAAACCACTTC	0.488000													17	25					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175054588	175054588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:175054588G>A	ENST00000239462.4	+	6	1395	c.1282G>A	c.(1282-1284)Gga>Aga	p.G428R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	428	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCATGAGAGGAGAGCTGGA	0.542000													21	13					0	0	1	0	0
RMND1	55005	broad.mit.edu	37	6	151757651	151757651	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:151757651C>A	ENST00000367303.4	-	3	665	c.543G>T	c.(541-543)gaG>gaT	p.E181D	RMND1_ENST00000336451.3_5'UTR|RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	181										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CCAGATGATACTCATCTGCCG	0.488000													3	82					0.150653	0.150857	1	1	0
GIMAP7	168537	broad.mit.edu	37	7	150217858	150217858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:150217858G>A	ENST00000313543.4	+	2	953	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	266							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		aaatataaGGGAAGAAGCTGA	0.254000													11	25					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432228	140432228	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140432228C>T	ENST00000306549.3	+	1	1250	c.1173C>T	c.(1171-1173)ccC>ccT	p.P391P		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		391	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGACCTTCCCTTTGTAATCA	0.473000													30	67					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551510	165551510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:165551510G>A	ENST00000375458.2	-	11	2613	c.2392C>T	c.(2392-2394)Ccg>Tcg	p.P798S	COBLL1_ENST00000342193.4_Missense_Mutation_p.P836S|COBLL1_ENST00000194871.6_Missense_Mutation_p.P903S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P836S|COBLL1_ENST00000392717.2_Missense_Mutation_p.P874S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	874										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTAGGCTTCGGTTTAAGGTTT	0.463000													18	35					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135939861	135939861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:135939861C>T	ENST00000372080.4	+	2	162	c.146C>T	c.(145-147)tCt>tTt	p.S49F	CEL_ENST00000351304.7_Missense_Mutation_p.S46F	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	46	Heparin-binding.				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CTGGGTGACTCTGTGGACATC	0.632000													21	40					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1386255	1386255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:1386255G>A	ENST00000359786.5	-	4	770	c.446C>T	c.(445-447)gCc>gTc	p.A149V	MYO1C_ENST00000545534.2_Missense_Mutation_p.A125V|MYO1C_ENST00000361007.2_Missense_Mutation_p.A114V|MYO1C_ENST00000575158.1_Missense_Mutation_p.A114V|MYO1C_ENST00000438665.2_Missense_Mutation_p.A130V	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	149	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTCTTGGTGGCCTCGGTCTT	0.672000													10	27					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662400	40662400	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:40662400G>A	ENST00000454349.2	+	5	2377	c.2166G>A	c.(2164-2166)tgG>tgA	p.W722*	TNRC6B_ENST00000335727.8_Nonsense_Mutation_p.W722*|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	722					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CTTCCTCTTGGAATGAGAATC	0.527000													11	14					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1369239	1369239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:1369239C>T	ENST00000389851.4	+	9	1823	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	UVSSA_ENST00000512728.1_Missense_Mutation_p.S10F|UVSSA_ENST00000511563.1_Missense_Mutation_p.S10F|UVSSA_ENST00000511216.1_Missense_Mutation_p.S459F|UVSSA_ENST00000507531.1_Missense_Mutation_p.S459F	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	459																	GACCCCACCTCTGCGGCTGCT	0.652000													36	85					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120155	103120155	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:103120155C>T	ENST00000295269.4	+	3	1426	c.969C>T	c.(967-969)tcC>tcT	p.S323S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	323					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCTATCTCTCCGGCATCCTGG	0.423000													27	50					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136683760	136683760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:136683760C>T	ENST00000354570.3	-	11	1764	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T	MAP7_ENST00000438100.2_Missense_Mutation_p.A437T|MAP7_ENST00000454590.1_Missense_Mutation_p.A474T|MAP7_ENST00000544465.1_Missense_Mutation_p.A437T|MAP7_ENST00000432797.2_Missense_Mutation_p.A306T	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	452					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		gagaccatggctggggtgggg	0.637000													6	8					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117103927	117103927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:117103927G>A	ENST00000307564.4	-	21	4114	c.3953C>T	c.(3952-3954)tCg>tTg	p.S1318L	AKNA_ENST00000223791.3_Missense_Mutation_p.S778L|AKNA_ENST00000374079.4_Missense_Mutation_p.S263L|AKNA_ENST00000374088.3_Missense_Mutation_p.S1318L|AKNA_ENST00000374075.5_Missense_Mutation_p.S1237L|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGGGCGTGGCGACGACCCCGC	0.622000													25	54					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194061912	194061912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:194061912G>A	ENST00000323830.3	-	2	1609	c.1520C>T	c.(1519-1521)tCt>tTt	p.S507F	CPN2_ENST00000429275.1_Missense_Mutation_p.S507F	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	507					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CTGCTGAGGAGAGAGCTGGAC	0.642000													19	13					0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14591232	14591232	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:14591232G>A	ENST00000393033.4	-	6	809	c.540C>T	c.(538-540)gcC>gcT	p.A180A	GIPC1_ENST00000345425.2_Silent_p.A180A|GIPC1_ENST00000586027.1_Silent_p.A180A|GIPC1_ENST00000393028.1_Silent_p.A83A|GIPC1_ENST00000393029.3_Silent_p.A83A|GIPC1_ENST00000591349.1_Silent_p.A83A	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	180	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCCCGTTAATGGCCTCGATCA	0.667000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	50					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28908228	28908228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:28908228G>A	ENST00000282397.4	-	18	2778	c.2527C>T	c.(2527-2529)Caa>Taa	p.Q843*	FLT1_ENST00000540678.1_Nonsense_Mutation_p.Q61*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	843	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCTGATGCTTGAACCACTTTT	0.438000													135	121					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669590	234669590	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:234669590G>A	ENST00000360418.3	+	1	657	c.657G>A	c.(655-657)caG>caA	p.Q219Q	UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000305208.5_Silent_p.Q219Q|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron			P22309	UD11_HUMAN		219					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCTTTTCACAGAACTTTCTGT	0.522000													54	97					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73954224	73954224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:73954224C>T	ENST00000476977.1	+	14	3235	c.1544C>T	c.(1543-1545)tCt>tTt	p.S515F	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.S515F|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.S515F|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.S547F			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	515						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCGCCAACCTCTGAGGAAATG	0.557000													20	41					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31609544	31609544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:31609544G>A	ENST00000170150.3	+	15	1469	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	425						extracellular region	lipid binding										TTGGCCATGGGAATTGCCCTC	0.577000													60	58					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31233414	31233414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:31233414C>T	ENST00000255304.4	+	9	3542	c.3200C>T	c.(3199-3201)tCc>tTc	p.S1067F		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1067					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GAGTTTTTTTCCTCCTCAGCA	0.353000													26	72					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420451	105420451	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:105420451A>C	ENST00000333244.5	-	7	1456	c.1337T>G	c.(1336-1338)aTg>aGg	p.M446R		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	446						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)			CTCCCGGCTCATTCCAGGAGT	0.632000													9	23					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38854597	38854597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:38854597G>A	ENST00000359357.3	+	55	7893	c.7639G>A	c.(7639-7641)Gaa>Aaa	p.E2547K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E2511K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E2764K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAGATGATGGAAATGGAAGG	0.388000													58	103					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135160691	135160691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:135160691C>T	ENST00000409645.1	+	12	1765	c.1513C>T	c.(1513-1515)Ctt>Ttt	p.L505F	MGAT5_ENST00000281923.2_Missense_Mutation_p.L505F			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	505					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CCTGCAGTTCCTTCTTCGAGA	0.428000													11	17					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32496853	32496853	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:32496853G>A	ENST00000286827.3	-	28	4764	c.4293C>T	c.(4291-4293)gcC>gcT	p.A1431A	TIAM1_ENST00000541036.1_Silent_p.A1371A	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1431					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCCTGCTCATGGCCGGCCTGG	0.562000													34	65					0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87367551	87367551	+	Missense_Mutation	SNP	G	G	A	rs139174683	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:87367551G>A	ENST00000568879.1	-	1	328	c.329C>T	c.(328-330)tCg>tTg	p.S110L	FBXO31_ENST00000311635.7_Silent_p.F446F																							CGGGCAGCACGAACGGCTGCC	0.677000													22	26					0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43570718	43570718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:43570718C>T	ENST00000409746.5	-	13	996	c.925G>A	c.(925-927)Gga>Aga	p.G309R	PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_Silent_p.E276E	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	309						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						GGGAGGGGTCCTCTCCTGTAA	0.358000													13	22					0	0	1	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107178951	107178951	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:107178951C>T	ENST00000390634.2	-	0	301																											TATTTATCATCATCCCAATCA	0.517000													20	26					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35556775	35556775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:35556775G>A	ENST00000262626.2	+	12	1879	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.D352N|HPN_ENST00000597419.1_Missense_Mutation_p.D194N	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	352	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			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)	CTCCCAGGGCGACAGCGGTGG	0.657000													24	35					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57954438	57954438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:57954438G>A	ENST00000564448.1	-	19	1696	c.1636C>T	c.(1636-1638)Cgt>Tgt	p.R546C	CNGB1_ENST00000251102.8_Missense_Mutation_p.R552C			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	552					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAGGCCGCACGGTCCTGGCCA	0.622000													16	32					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738800	176738800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:176738800C>T	ENST00000367662.3	+	16	5545	c.4381C>T	c.(4381-4383)Ccc>Tcc	p.P1461S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1461	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGCTGCCTTCCCGTGGACTG	0.473000													57	56					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212286822	212286822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:212286822C>T	ENST00000342788.4	-	24	3184	c.2874G>A	c.(2872-2874)atG>atA	p.M958I	ERBB4_ENST00000402597.1_Missense_Mutation_p.M948I|ERBB4_ENST00000436443.1_Missense_Mutation_p.M958I	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	958	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGCATCAATCATCCAACCTG	0.353000										TSP Lung(8;0.080)			11	36					0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350173	51350173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:51350173G>A	ENST00000327536.5	-	3	883	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	262										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AGGGTGGAGAGGAACTCCACA	0.522000													12	31					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15747888	15747888	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:15747888C>T	ENST00000281171.4	+	26	3894	c.3564C>T	c.(3562-3564)atC>atT	p.I1188I	PTPRO_ENST00000542557.1_Silent_p.I349I|PTPRO_ENST00000445537.2_Silent_p.I377I|PTPRO_ENST00000442921.2_Silent_p.I377I|PTPRO_ENST00000544244.1_Silent_p.I349I|PTPRO_ENST00000348962.2_Silent_p.I1160I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1188	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACATTTTTATCCATCAGTGTG	0.368000													12	39					0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55887015	55887015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:55887015C>T	ENST00000379662.1	+	1	869	c.869C>T	c.(868-870)tCt>tTt	p.S290F	RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.S285F|RP11-110A12.2_ENST00000556750.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATGTTGAATTCTTTCATATAT	0.328000													16	47					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354177	57354177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:57354177G>A	ENST00000314922.3	-	2	534	c.458C>T	c.(457-459)tCc>tTc	p.S153F	PENK_ENST00000451791.2_Missense_Mutation_p.S153F|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	153					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.S153C(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CAGGTCTGAGGAATTGGCCAG	0.527000													30	94					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90244977	90244977	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:90244977G>A	ENST00000268130.7	+	0	101				WDR93_ENST00000560294.1_De_novo_Start_InFrame|WDR93_ENST00000558000.1_De_novo_Start_InFrame	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93						electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CACCTTCTGTGATGTCATTCC	0.463000													21	63					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6374336	6374336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:6374336G>A	ENST00000335585.5	-	5	562	c.539C>T	c.(538-540)tCc>tTc	p.S180F	PPP2R2C_ENST00000515571.1_Missense_Mutation_p.S163F|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.S173F|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.S180F|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.S173F	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	180					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						ACTGTTGACGGAGATGGAGTT	0.572000													56	168					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793921	38793921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:38793921G>A	ENST00000449082.2	-	11	1543	c.1544C>T	c.(1543-1545)tCa>tTa	p.S515L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	515					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTCAGGGAGTGAGATATCTCG	0.602000													17	37					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41465764	41465764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:41465764G>A	ENST00000400454.1	-	21	4211	c.3734C>T	c.(3733-3735)tCc>tTc	p.S1245F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1245	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.S1245F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AATTCTGTAGGAAAACGAGTC	0.483000													13	29					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55570348	55570348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:55570348C>T	ENST00000373965.2	-	35	4865	c.4471G>A	c.(4471-4473)Ggt>Agt	p.G1491S	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Silent_p.L1118L|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1491S|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1488S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Silent_p.L1507L|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAGCTTCACCAACCACCTCA	0.373000										HNSCC(58;0.16)			36	84					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4217012	4217012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:4217012G>A	ENST00000600132.1	+	18	2131	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	ANKRD24_ENST00000318934.4_Missense_Mutation_p.E619K|ANKRD24_ENST00000262970.5_Missense_Mutation_p.E709K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	619										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AGCAAACATGGAAACTAAGCC	0.552000													11	17					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50671731	50671731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:50671731G>A	ENST00000403097.1	-	16	2270	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	GRB10_ENST00000398810.2_Missense_Mutation_p.S445F|GRB10_ENST00000407526.1_Missense_Mutation_p.S445F|GRB10_ENST00000439599.1_Missense_Mutation_p.S497F|GRB10_ENST00000357271.5_Missense_Mutation_p.S457F|GRB10_ENST00000402497.1_Missense_Mutation_p.S445F|GRB10_ENST00000402578.1_Missense_Mutation_p.S445F|GRB10_ENST00000401949.1_Missense_Mutation_p.S503F|GRB10_ENST00000406641.1_Missense_Mutation_p.S445F|GRB10_ENST00000398812.2_Missense_Mutation_p.S503F|GRB10_ENST00000335866.3_Missense_Mutation_p.S445F			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	503	SH2.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GATCCTGTGGGATTCCTCCCT	0.527000									Russell-Silver syndrome				67	124					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674812	71674812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:71674812G>A	ENST00000299952.4	+	3	1158	c.1115G>A	c.(1114-1116)gGc>gAc	p.G372D	MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	375	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATCATGTACGGCGCCAGCGTG	0.597000													9	26					0	0	1	0	0
SPATA22	84690	broad.mit.edu	37	17	3365798	3365798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:3365798C>T	ENST00000573128.1	-	5	791	c.308G>A	c.(307-309)gGa>gAa	p.G103E	SPATA22_ENST00000572969.1_Missense_Mutation_p.G103E|SPATA22_ENST00000355380.4_Missense_Mutation_p.G60E|SPATA22_ENST00000575375.1_Missense_Mutation_p.G103E|SPATA22_ENST00000541913.1_Missense_Mutation_p.G87E|SPATA22_ENST00000397168.3_Missense_Mutation_p.G103E|SPATA22_ENST00000268981.5_Missense_Mutation_p.G103E			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	103										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CTGGCTTCTTCCAGTATTTGA	0.388000													64	54					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234749306	234749306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:234749306G>A	ENST00000411486.2	-	8	2185	c.2120C>T	c.(2119-2121)aCc>aTc	p.T707I	HJURP_ENST00000441687.1_Missense_Mutation_p.T622I|HJURP_ENST00000432087.1_Missense_Mutation_p.T653I	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	707					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CGGTCTGACGGTGTTGTCCAC	0.562000													45	64					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954604	79954604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:79954604C>T	ENST00000306729.7	+	7	912	c.815C>T	c.(814-816)tCc>tTc	p.S272F	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.S195F|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.S272F	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	272							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TTGCCGAAGTCCCTCTCCAGC	0.652000			T	TFE3	alveolar soft part sarcoma								17	54					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54822892	54822892	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:54822892G>A	ENST00000301219.3	-	5	623	c.504C>T	c.(502-504)ttC>ttT	p.F168F	LILRA5_ENST00000346508.3_Silent_p.F156F|LILRA5_ENST00000432233.3_Silent_p.F168F|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Silent_p.F156F	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	168	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAACCTGTCGAATCTCAGCC	0.582000													19	41					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45672209	45672209	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:45672209G>A	ENST00000308064.2	-	4	935	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	89					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGCTCAAACAGGTAGAAGACG	0.652000													20	55					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9018509	9018509	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9018509C>T	ENST00000397910.4	-	24	37868	c.37665G>A	c.(37663-37665)ctG>ctA	p.L12555L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12557	SEA 4.				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						CCTCATACTTCAGGTTGGTGA	0.512000													78	130					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978750	41978750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:41978750G>A	ENST00000372584.1	-	7	7156	c.6142C>T	c.(6142-6144)Cga>Tga	p.R2048*	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.R2048*|HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.R2048*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.R2048*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2048					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ACATGTGCTCGAGGGGCCAGT	0.637000													17	51					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2815229	2815229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:2815229G>A	ENST00000520002.1	-	64	10361	c.9806C>T	c.(9805-9807)aCc>aTc	p.T3269I	CSMD1_ENST00000602723.1_Missense_Mutation_p.T3092I|CSMD1_ENST00000602557.1_Missense_Mutation_p.T3269I|CSMD1_ENST00000400186.3_Missense_Mutation_p.T3092I|CSMD1_ENST00000542608.1_Missense_Mutation_p.T3091I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3268I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3269	Sushi 27.					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)		TATACATTCGGTCTGTATCCC	0.433000													8	7					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209499	140209499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140209499C>T	ENST00000529310.1	+	1	1937	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.S608L(2)		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)			GCGTGGCTTTCGTATGAGCTG	0.662000													53	53					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19758433	19758433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:19758433G>A	ENST00000357324.6	-	20	2794	c.2768C>T	c.(2767-2769)tCc>tTc	p.S923F	ATP13A1_ENST00000291503.5_Missense_Mutation_p.S805F	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	923					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTGCTCCTCGGAGGGAGGGAG	0.692000													10	24					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349805	89349805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:89349805C>T	ENST00000301030.4	-	9	3605	c.3145G>A	c.(3145-3147)Gac>Aac	p.D1049N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1049N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1049	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AATTCTTTGTCCTTCTGACAT	0.358000													30	50					0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784905	90784905	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:90784905C>T	ENST00000558017.1	+	4	1185	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GDPGP1_ENST00000329600.6_Silent_p.F255F	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	255					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										CTCCTGGCTTCCTCTTTTACA	0.577000													11	18					0	0	1	0	0
SPIB	6689	broad.mit.edu	37	19	50923210	50923210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:50923210G>A	ENST00000595883.1	+	2	56	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	SPIB_ENST00000597855.1_Missense_Mutation_p.G11R|SPIB_ENST00000596074.1_Missense_Mutation_p.G11R|SPIB_ENST00000270632.7_Missense_Mutation_p.G11R|SPIB_ENST00000439922.2_5'UTR	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	11	TAD1 (Acidic).				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CAGGCTCGACGGGCCACACTT	0.647000													4	12					0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57256811	57256811	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:57256811G>A	ENST00000278426.3	-	12	1603	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L	SLC43A1_ENST00000528450.1_Silent_p.L416L	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	416					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						TGGCATTGGTGAGCTTTTGGA	0.542000													37	141					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	30032595	30032595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:30032595C>T	ENST00000434693.2	+	14	1899	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	RBMS3_ENST00000456853.1_Missense_Mutation_p.P398L|RBMS3_ENST00000383767.2_Missense_Mutation_p.P401L|RBMS3_ENST00000452462.1_Missense_Mutation_p.P385L|RBMS3_ENST00000273139.9_Missense_Mutation_p.P385L|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000383766.2_Missense_Mutation_p.P383L|RBMS3_ENST00000396583.3_Missense_Mutation_p.P398L	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	401						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GATACCTCTCCCCAGACAGTG	0.493000													30	26					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15316703	15316703	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:15316703C>T	ENST00000455308.2	-	0	720					NR_027417.1																						AGCTTTCAGCCGTGTCAGGTG	0.423000													4	8					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134244587	134244587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:134244587C>T	ENST00000535456.2	+	18	1987	c.1799C>T	c.(1798-1800)cCc>cTc	p.P600L	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.P600L|GLB1L2_ENST00000389881.3_Missense_Mutation_p.P600L	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	600					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTCCCAGGTCCCTGGTTGAGC	0.592000													95	43					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801776	9801776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9801776C>T	ENST00000457674.2	-	5	921	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	135	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTGGAAAGTTCCTGTCCAATA	0.398000													18	34					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101716582	101716582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:101716582G>A	ENST00000342239.3	-	4	740	c.649C>T	c.(649-651)Caa>Taa	p.Q217*	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Nonsense_Mutation_p.Q217*			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	217					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CAGTCATCTTGATTTCCAGAA	0.512000													41	61					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626828	108626828	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:108626828C>T	ENST00000264047.2	+	9	1530	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	SLC5A7_ENST00000540517.1_Silent_p.F313F|SLC5A7_ENST00000409059.1_Silent_p.F418F	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	418					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TCGTTATCTTCCCCCAGCTGC	0.498000													21	41					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25327995	25327995	+	RNA	SNP	G	G	A	rs141913479	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:25327995G>A	ENST00000546682.1	+	0	188				SNHG14_ENST00000549804.2_RNA|SNORD116-16_ENST00000384533.1_RNA	NR_003361.1																						CATCCTCGTCGAACTGAGGTC	0.478000													68	131					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15894599	15894599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:15894599C>T	ENST00000375847.3	+	15	2440	c.2276C>T	c.(2275-2277)tCt>tTt	p.S759F	DNAJC16_ENST00000375849.1_Intron|DNAJC16_ENST00000483270.1_3'UTR	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	759					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGCAAGCTCTCTTTATGGATG	0.488000													29	14					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38482762	38482762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:38482762C>T	ENST00000263409.4	-	19	2761	c.2599G>A	c.(2599-2601)Gaa>Aaa	p.E867K	LIFR_ENST00000453190.2_Missense_Mutation_p.E867K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	867					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TAGAAGGTTTCTTTAATCCtt	0.219000			T	PLAG1	salivary adenoma								9	110					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665675	20665675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:20665675G>A	ENST00000357366.3	+	1	181	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCCCAGGGAGGGGCAGATCCT	0.527000													17	32					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925420	70925420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:70925420G>A	ENST00000603540.1	+	2	1462	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.E402K	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	402					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AAGATTGGGGGAAATCTTTAT	0.458000													28	51					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207572058	207572058	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:207572058G>A	ENST00000452335.2	-	3	380	c.264C>T	c.(262-264)ctC>ctT	p.L88L		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	88						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGCTCAGAGTGAGTTCCGGAG	0.512000													5	10					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89906553	89906553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:89906553G>A	ENST00000389297.4	+	11	1311	c.1060G>A	c.(1060-1062)Gga>Aga	p.G354R	C7orf63_ENST00000316089.8_Missense_Mutation_p.G354R|C7orf63_ENST00000497910.1_Missense_Mutation_p.G336R	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	354							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTTGGTAAAAGGACTTAAGCT	0.269000													3	14					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16979627	16979627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:16979627C>T	ENST00000377833.4	-	39	5955	c.5890G>A	c.(5890-5892)Gat>Aat	p.D1964N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1964					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGGTGCATCCACTGCAAAC	0.418000													12	31					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118950332	118950332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:118950332G>A	ENST00000328252.3	+	2	1684	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	439	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CGACGGCGGGGATTGCCGCCA	0.597000													12	21					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60563058	60563058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:60563058C>T	ENST00000400316.4	+	6	2503	c.722C>T	c.(721-723)cCt>cTt	p.P241L	PHLPP1_ENST00000262719.5_Missense_Mutation_p.P753L	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	753					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CAATCCCTTCCTGCTGAGTTG	0.343000													37	153					0	0	1	0	0
STMN1	3925	broad.mit.edu	37	1	26230178	26230178	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:26230178A>C	ENST00000399728.1	-	3	503	c.140T>G	c.(139-141)cTg>cGg	p.L47R	STMN1_ENST00000374291.1_Missense_Mutation_p.L47R|STMN1_ENST00000357865.2_Missense_Mutation_p.L47R|STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000455785.2_Missense_Mutation_p.L47R|STMN1_ENST00000426559.2_Missense_Mutation_p.L47R	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	47					cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|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;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		AATTTCCTCCAGGGAAAGATC	0.448000													42	108					0	0	1	0	0
FFAR4	338557	broad.mit.edu	37	10	95346994	95346994	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:95346994G>A	ENST00000371483.4	+	4	818	c.762G>A	c.(760-762)agG>agA	p.R254R	FFAR4_ENST00000604414.1_Intron|FFAR4_ENST00000371481.4_Silent_p.R238R	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		AGGCATCAAGGAAGAGGCTCA	0.562000													19	24					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553578	140553578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140553578G>A	ENST00000231137.3	+	1	1336	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		388	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D388Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCCAGGACGATGTCCCCTT	0.468000													10	44					0	0	1	0	0
RPH3AL	9501	broad.mit.edu	37	17	169321	169321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:169321C>T	ENST00000323434.8	-	5	838	c.241G>A	c.(241-243)Gag>Aag	p.E81K	RPH3AL_ENST00000331302.7_Missense_Mutation_p.E81K|RPH3AL_ENST00000536489.2_Missense_Mutation_p.E81K	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	81	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTCATGGTCTCCAGCCGCTCC	0.632000													36	18					0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50362591	50362591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:50362591G>A	ENST00000394688.3	-	9	1235	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	BRD7_ENST00000394689.2_Missense_Mutation_p.P359L			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	359					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCCTACAATGGGATCCACAGG	0.418000													16	48					0	0	1	0	0
SUV420H2	84787	broad.mit.edu	37	19	55854202	55854202	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:55854202C>T	ENST00000255613.3	+	4	617	c.369C>T	c.(367-369)atC>atT	p.I123I	AC020922.1_ENST00000539076.1_Intron|SUV420H2_ENST00000402499.4_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	123	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGCCAAGATCGTGTCCACTC	0.587000													27	44					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597025	36597025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:36597025C>T	ENST00000299440.5	+	2	2283	c.2171C>T	c.(2170-2172)tCt>tTt	p.S724F		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	724					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTCGAGGCTTCTGGCTCAGTC	0.502000									Familial Hemophagocytic Lymphohistiocytosis				46	59					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121388158	121388158	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:121388158G>A	ENST00000393667.3	-	18	9332	c.9222C>T	c.(9220-9222)ctC>ctT	p.L3074L	GOLGB1_ENST00000340645.5_Silent_p.L3069L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	3069					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGGTATCGCAGAGCTGAATGG	0.493000													27	100					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10971341	10971341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:10971341C>T	ENST00000298232.7	-	5	383	c.16G>A	c.(16-18)Gat>Aat	p.D6N	TPTE_ENST00000361285.4_Missense_Mutation_p.D6N|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.D6N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	6					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)		TCAGTCGGATCAGGACTAAAG	0.448000													9	44					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14263229	14263229	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:14263229G>A	ENST00000340736.6	-	22	3853	c.3556C>T	c.(3556-3558)Ctg>Ttg	p.L1186L	LPHN1_ENST00000361434.3_Silent_p.L1181L|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1186					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGTTGGTCAGCAGGTGGTTC	0.622000													24	25					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49168397	49168397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:49168397G>A	ENST00000418109.1	-	8	1065	c.901C>T	c.(901-903)Cat>Tat	p.H301Y	LAMB2_ENST00000305544.4_Missense_Mutation_p.H301Y	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	301	Laminin EGF-like 1.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCTCAGCATGGGCTGGTGCC	0.597000													60	38					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711035	58711035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:58711035C>T	ENST00000300079.5	+	2	94	c.44C>T	c.(43-45)tCt>tTt	p.S15F	GLYATL1_ENST00000317391.4_5'UTR|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	caagaaggatctgaagtggag	0.433000													13	10					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113232667	113232667	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:113232667C>T	ENST00000369644.1	+	6	1644	c.615C>T	c.(613-615)atC>atT	p.I205I	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Silent_p.I261I|MOV10_ENST00000357443.2_Silent_p.I261I|MOV10_ENST00000413052.2_Silent_p.I261I			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	261					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GGACCCGGATCACCGGAAACC	0.612000													24	97					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150488694	150488694	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:150488694C>T	ENST00000447204.2	-	7	1110	c.738G>A	c.(736-738)gaG>gaA	p.E246E	TMEM176B_ENST00000326442.5_Silent_p.E246E|TMEM176B_ENST00000492607.1_Silent_p.E246E|TMEM176B_ENST00000429904.2_Silent_p.E246E|TMEM176B_ENST00000434545.1_Silent_p.E246E|TMEM176B_ENST00000450753.2_Silent_p.E209E	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	246					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTAGCCTCTTCTCTGATCCTT	0.502000													14	20					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785930	111785930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:111785930C>T	ENST00000261726.6	+	22	4416	c.4262C>T	c.(4261-4263)tCc>tTc	p.S1421F		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1421	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTCCCATCTCCCCATCCCCA	0.662000													23	40					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70518819	70518819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:70518819C>T	ENST00000381269.2	-	5	2672	c.1919G>A	c.(1918-1920)aGg>aAg	p.R640K	SLC8A3_ENST00000533541.1_5'UTR|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R637K|SLC8A3_ENST00000216568.7_Missense_Mutation_p.R11K|SLC8A3_ENST00000394330.2_5'UTR|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R634K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R638K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R638K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	640					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGTCAGCTTCCTGTCTGTCAC	0.468000													43	53					0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50435808	50435808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:50435808C>T	ENST00000423777.2	+	3	685	c.308C>T	c.(307-309)tCc>tTc	p.S103F	ATF5_ENST00000595125.1_Missense_Mutation_p.S103F|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	103					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCTATGGCCTCCCTCCTCAAG	0.627000													18	36					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93845059	93845059	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:93845059G>A	ENST00000315765.9	+	20	3487	c.3479G>A	c.(3478-3480)tGa>tAa	p.*1160*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	0					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GATGCTCTGTGAACCATCTGG	0.547000													140	132					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716477	142716477	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:142716477C>T	ENST00000381779.4	-	2	2673	c.2448G>A	c.(2446-2448)gcG>gcA	p.A816A	SLITRK4_ENST00000338017.4_Silent_p.A816A|SLITRK4_ENST00000356928.1_Silent_p.A816A	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	816						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCAGTTTCGCCTTCAGTT	0.398000													24	8					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28611067	28611067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:28611067C>T	ENST00000434452.1	-	3	380	c.226G>A	c.(226-228)Gat>Aat	p.D76N	DSC3_ENST00000360428.4_Missense_Mutation_p.D76N	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	76					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACTGACCCATCATTTAGAACT	0.418000													13	25					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118375357	118375357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:118375357C>T	ENST00000534358.1	+	27	8773	c.8750C>T	c.(8749-8751)tCt>tTt	p.S2917F	KMT2A_ENST00000389506.5_Missense_Mutation_p.S2914F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2876F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GTCTCTTCCTCTATCTCAGCA	0.478000													115	44					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442776	25442776	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:25442776C>T	ENST00000424208.1	+	0	1636				SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.483000													120	239					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42280289	42280289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:42280289C>T	ENST00000399518.3	-	16	2275	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E568K	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	585	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGGAAAAACTCCTCCGAGGTG	0.612000													5	9					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47160510	47160510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:47160510C>T	ENST00000447411.1	-	16	1824	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	SLC38A4_ENST00000266579.4_Missense_Mutation_p.D540N	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	540					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTTGGAGGATCATAAATCCAG	0.323000													8	8					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83549909	83549909	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:83549909C>T	ENST00000296591.5	-	2	607	c.189G>A	c.(187-189)gtG>gtA	p.V63V	EDIL3_ENST00000380138.3_Silent_p.V63V	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	63					cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TACCAACCTCCACAACACTAG	0.403000													20	26					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51189596	51189596	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:51189596G>A	ENST00000293441.1	-	20	2493	c.2475C>T	c.(2473-2475)atC>atT	p.I825I	SHANK1_ENST00000359082.3_Silent_p.I816I|SHANK1_ENST00000391814.1_Silent_p.I833I|SHANK1_ENST00000391813.1_Silent_p.I212I	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	825					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTGCGGCCAGGATTTCGTCCA	0.562000													29	47					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73001643	73001643	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:73001643C>T	ENST00000264839.7	+	22	3291	c.3291C>T	c.(3289-3291)caC>caT	p.H1097H	RIMS1_ENST00000521978.1_Silent_p.H1248H|RIMS1_ENST00000520567.1_Silent_p.H1070H|RIMS1_ENST00000348717.5_Silent_p.H1040H|RIMS1_ENST00000517960.1_Silent_p.H1040H|RIMS1_ENST00000523963.1_Silent_p.H545H|RIMS1_ENST00000401910.3_Silent_p.H568H|RIMS1_ENST00000517827.1_Silent_p.H554H|RIMS1_ENST00000538414.1_Silent_p.H44H|RIMS1_ENST00000518273.1_Silent_p.H1099H|RIMS1_ENST00000522291.1_Silent_p.H1019H|RIMS1_ENST00000491071.2_Silent_p.H1071H|RIMS1_ENST00000425662.2_Silent_p.H488H			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1141					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCAGAATGCACCGACAGAGAA	0.468000													6	7					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189585657	189585657	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:189585657C>T	ENST00000264731.3	+	7	1007	c.918C>T	c.(916-918)ttC>ttT	p.F306F	TP63_ENST00000382063.4_Silent_p.F221F|TP63_ENST00000418709.2_Silent_p.F306F|TP63_ENST00000392463.2_Silent_p.F212F|TP63_ENST00000392461.3_Silent_p.F212F|TP63_ENST00000456148.1_Silent_p.F212F|TP63_ENST00000320472.5_Silent_p.F306F|TP63_ENST00000392460.3_Silent_p.F306F|TP63_ENST00000440651.2_Silent_p.F306F|TP63_ENST00000354600.5_Silent_p.F212F|TP63_ENST00000449992.1_Silent_p.F127F|TP63_ENST00000437221.1_Silent_p.F212F	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	306					anti-apoptosis|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTACAATTTCATGTGTAACA	0.398000										HNSCC(45;0.13)			19	49					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925689	55925689	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:55925689G>A	ENST00000244728.5	-	26	2749	c.2352_splice	c.e26+1	p.P784_splice	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Splice_Site_p.P184_splice|COL21A1_ENST00000370819.1_Splice_Site_p.P781_splice|COL21A1_ENST00000535941.1_Splice_Site_p.P784_splice	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	784	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAATACATACGGGCTTCCCAT	0.488000													3	11					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67803225	67803225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:67803225C>T	ENST00000422365.2	+	10	1370	c.1199C>T	c.(1198-1200)gCt>gTt	p.A400V	MCMDC2_ENST00000313616.5_Missense_Mutation_p.A400V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A337V|MCMDC2_ENST00000396592.3_Missense_Mutation_p.A400V	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	400					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						GCTGGCAGTGCTTTGCTAGCT	0.398000													35	73					0	0	1	0	0
MDH2	4191	broad.mit.edu	37	7	75695710	75695710	+	Silent	SNP	C	C	T	rs146761624	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:75695710C>T	ENST00000315758.5	+	9	1093	c.999C>T	c.(997-999)ttC>ttT	p.F333F	MDH2_ENST00000443006.1_Silent_p.F226F|MDH2_ENST00000432020.2_Silent_p.F291F	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	333					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	GGGAAGATTTCGTGAAGACCC	0.493000													8	18					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921836	24921836	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:24921836G>A	ENST00000329468.2	+	1	1296	c.822G>A	c.(820-822)caG>caA	p.Q274Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGCTGCAGCAGAAGTTGGCTG	0.617000													21	36					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910619	139910619	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:139910619G>A	ENST00000265662.5	-	22	3259	c.3112C>T	c.(3112-3114)Ctg>Ttg	p.L1038L	ABCA2_ENST00000371605.3_Silent_p.L1037L|ABCA2_ENST00000341511.6_Silent_p.L1038L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1037	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGGCCGGTCAGGATGGACCTG	0.657000													29	39					0	0	1	0	0
UBA6-AS1	550112	broad.mit.edu	37	4	68620146	68620146	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:68620146C>T	ENST00000500538.2	+	0	1838				RP11-453E17.1_ENST00000502758.1_RNA																							TTTCTGCCTTCTTTAGATGGA	0.368000													3	8					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9438100	9438100	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:9438100C>T	ENST00000378501.2	+	30	3015	c.3000C>T	c.(2998-3000)atC>atT	p.I1000I	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.I1012I|PLCB4_ENST00000278655.4_Silent_p.I1000I|PLCB4_ENST00000334005.3_Silent_p.I1000I|PLCB4_ENST00000378493.1_Silent_p.I1000I|PLCB4_ENST00000414679.2_Silent_p.I1012I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1000					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAACAGAAATCAAAATTCAGA	0.358000													46	23					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20999054	20999054	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:20999054C>T	ENST00000261383.3	-	46	6842	c.6843G>A	c.(6841-6843)gtG>gtA	p.V2281V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2281	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCCTTGAATCACTCGTGAGA	0.463000													18	50					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7728082	7728082	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:7728082G>T	ENST00000486284.1	+	10	3011	c.2737G>T	c.(2737-2739)Gtt>Ttt	p.V913F	GRM7_ENST00000357716.4_Intron|GRM7_ENST00000403881.1_Intron|GRM7_ENST00000389336.4_Intron|GRM7_ENST00000402647.2_Missense_Mutation_p.V913F	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	0					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ACAAAAGTCTGTTACTTGGTA	0.313000													34	26					3.76604e-16	3.7968e-16	1	1	0
NPHP3	27031	broad.mit.edu	37	3	132407935	132407935	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:132407935G>A	ENST00000337331.5	-	20	2952	c.2866C>T	c.(2866-2868)Cta>Tta	p.L956L	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	956					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAAGGCCTAGATCCTTGAGA	0.443000													29	96					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52472016	52472016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:52472016G>A	ENST00000231721.2	-	14	1708	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	570	Ig-like C2-type.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCACTGCAGGGCAGGGTTGCC	0.697000													24	28					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41859614	41859614	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:41859614C>T	ENST00000263798.3	+	7	1064	c.840C>T	c.(838-840)ccC>ccT	p.P280P	TYRO3_ENST00000559066.1_Silent_p.P235P	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	280	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGTGCCCCCCTTTACCTGCC	0.607000													28	102					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75099521	75099521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:75099521C>T	ENST00000290573.2	+	4	1070	c.470C>T	c.(469-471)cCc>cTc	p.P157L	HK2_ENST00000409174.1_Missense_Mutation_p.P129L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	157	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTCTCGTTCCCCTGCCACCAG	0.512000													27	53					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38541528	38541528	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:38541528G>A	ENST00000332509.3	-	3	525	c.342C>T	c.(340-342)atC>atT	p.I114I	PLA2G6_ENST00000335539.3_Silent_p.I114I|PLA2G6_ENST00000402064.1_Silent_p.I114I	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	114					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGTGGTTACGGATGAGGTCGG	0.567000													11	16					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40405573	40405573	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:40405573G>A	ENST00000542756.1	-	3	1892	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000405901.3_Silent_p.F623F|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000408028.2_Intron|SLC8A1_ENST00000403092.1_Silent_p.F623F|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000332839.4_Silent_p.F623F|SLC8A1_ENST00000406391.2_Intron			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	623	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAATCTCAAGGAAGAAGGTCT	0.498000													63	118					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699285	43699285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:43699285G>A	ENST00000405312.3	-	4	1087	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.P191S	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	284	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTTACCCTGGGACTGACAGGG	0.458000													95	162					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739427	55739427	+	Silent	SNP	G	G	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:55739427G>T	ENST00000370830.3	-	1	935	c.237C>A	c.(235-237)ctC>ctA	p.L79L	BMP5_ENST00000446683.2_Silent_p.L79L	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	79					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCAGCATAAAGAGAGGTGCAG	0.473000													45	49					2.79147e-13	2.80663e-13	1	1	0
OR4K17	390436	broad.mit.edu	37	14	20586509	20586509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:20586509C>T	ENST00000315543.4	+	1	944	c.944C>T	c.(943-945)cCa>cTa	p.P315L		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P315Q(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATCTTGAATCCAATTATCTAT	0.348000													8	13					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459672	142459672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142459672G>A	ENST00000486171.1	+	4	307	c.290G>A	c.(289-291)gGg>gAg	p.G97E	PRSS1_ENST00000311737.7_Missense_Mutation_p.G83E			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	83	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GTCCTGGAGGGGAATGAGCAG	0.542000													59	156					0	0	1	0	0
OR2T5	401993	broad.mit.edu	37	1	248651948	248651948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:248651948G>A	ENST00000366473.2	+	1	64	c.59G>A	c.(58-60)gGa>gAa	p.G20E		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			ATCCTCATGGGACTCTTCAGA	0.483000													15	88					0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61149238	61149238	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:61149238C>T	ENST00000295025.7	+	11	1748	c.1428C>T	c.(1426-1428)tcC>tcT	p.S476S	REL_ENST00000394479.3_Silent_p.S444S	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	476					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AAGCGTCATCCATGCCATCAG	0.423000			A		Hodgkin Lymphoma								12	44					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336210	147336210	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:147336210G>A	ENST00000361727.3	+	13	2426	c.1910G>A	c.(1909-1911)tGg>tAg	p.W637*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	637	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.W637*(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACAAAGTGTGGACCATAGTG	0.463000										HNSCC(39;0.1)			22	54					0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785287	134785287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:134785287G>A	ENST00000537858.1	-	2	543	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	115										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTTCTACGCGAACCAGCATC	0.562000													37	113					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825826	4825826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:4825826C>T	ENST00000380382.1	-	1	21	c.22G>A	c.(22-24)Gac>Aac	p.D8N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTACTTATGTCATTCAAAATG	0.308000													4	10					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201009482	201009482	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:201009482G>A	ENST00000362061.3	-	43	5473	c.5247C>T	c.(5245-5247)tcC>tcT	p.S1749S	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Silent_p.S1730S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1749					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTCAGGCATGGAGGACTCCA	0.562000													6	23					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28963961	28963961	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:28963961G>A	ENST00000282397.4	-	13	2192	c.1941C>T	c.(1939-1941)atC>atT	p.I647I	FLT1_ENST00000541932.1_Silent_p.I647I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	647	Ig-like C2-type 6.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCTTCTGGAGGATTTCTTCCC	0.423000													34	119					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36768464	36768464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:36768464C>T	ENST00000399881.3	+	22	2385	c.2348C>T	c.(2347-2349)tCt>tTt	p.S783F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	783						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCACTTTATTCTGGAGACCTC	0.517000													30	86					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105261734	105261734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:105261734G>A	ENST00000507740.1	+	20	3287	c.3051G>A	c.(3049-3051)atG>atA	p.M1017I	RIMS2_ENST00000262231.10_Missense_Mutation_p.M1042I|RIMS2_ENST00000436393.2_Missense_Mutation_p.M1221I|RIMS2_ENST00000406091.3_Missense_Mutation_p.M1203I|RIMS2_ENST00000339750.2_Missense_Mutation_p.M139I	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1265					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGTAGGAATGATGGACAAAA	0.413000										HNSCC(12;0.0054)			24	32					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148388497	148388497	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:148388497A>G	ENST00000538184.1	-	11	2924	c.2036T>C	c.(2035-2037)cTg>cCg	p.L679P	SH3TC2_ENST00000512049.1_Missense_Mutation_p.L1125P|SH3TC2_ENST00000515425.1_Missense_Mutation_p.L1132P			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1132							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)			CAGCTCTGTCAGCTTATTGAA	0.527000													33	99					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57838006	57838006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:57838006C>T	ENST00000321545.4	+	3	496	c.151C>T	c.(151-153)Cct>Tct	p.P51S		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACAGGCTGTCCTTTGTTCAA	0.488000													19	35					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740790	110740790	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:110740790C>T	ENST00000331565.4	+	12	2393	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	636					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGTGGTGTTCGTCCTGCGGC	0.607000													24	13					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118558676	118558676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:118558676C>T	ENST00000336338.5	-	29	4264	c.4199G>A	c.(4198-4200)gGa>gAa	p.G1400E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1400						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATCCGATTTCCTTCAGGTGT	0.478000													19	62					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32020485	32020485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:32020485C>T	ENST00000375244.3	-	26	9278	c.9077G>A	c.(9076-9078)gGg>gAg	p.G3026E	TNXB_ENST00000375247.2_Missense_Mutation_p.G3024E			P22105	TENX_HUMAN	tenascin XB	3071	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGCGCTGCCCCTCGTGGAG	0.657000													53	97					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	64					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	111912	111912	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:111912G>A	ENST00000262316.6	-	8	1234	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	RHBDF1_ENST00000454039.2_Silent_p.F364F	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	364					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TCTCCCGGGCGAAGAGCTTGC	0.711000													15	18					0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28483479	28483479	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:28483479G>A	ENST00000361902.1	-	1	91	c.42C>T	c.(40-42)ttC>ttT	p.F14F	GPX6_ENST00000474923.1_Silent_p.F14F|GPX6_ENST00000483058.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	14					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	AGCCAACCAGGAAAAACAGGA	0.547000													45	69					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466021	56466021	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:56466021G>A	ENST00000291971.3	+	3	668	c.597G>A	c.(595-597)caG>caA	p.Q199Q	NLRP8_ENST00000590542.1_Silent_p.Q199Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	199						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAAGACCCCAGGGTAGACAGC	0.517000													15	43					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188956522	188956522	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:188956522G>A	ENST00000345063.3	+	4	470	c.302_splice	c.e4-1	p.K101_splice	TPRG1-AS2_ENST00000425454.1_RNA|TPRG1_ENST00000433971.1_Splice_Site_p.K101_splice	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	101										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		ATTCCTATAGGATAGACCACT	0.398000													37	56					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327317	152327317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:152327317C>T	ENST00000388718.5	-	3	3017	c.2945G>A	c.(2944-2946)gGa>gAa	p.G982E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	982	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGGATTTTCCTGAGCCTGA	0.498000													227	211					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200877898	200877898	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:200877898C>T	ENST00000367342.4	+	7	1070	c.870C>T	c.(868-870)gcC>gcT	p.A290A	C1orf106_ENST00000413687.2_Silent_p.A205A	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	290	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AGTCTCCAGCCCCACCTTCTC	0.607000													90	100					0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53345285	53345285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:53345285G>A	ENST00000595646.1	-	4	382	c.262C>T	c.(262-264)Cat>Tat	p.H88Y	ZNF468_ENST00000396409.4_Missense_Mutation_p.H35Y|ZNF468_ENST00000243639.4_Missense_Mutation_p.P127L|ZNF468_ENST00000390651.4_Missense_Mutation_p.H35Y|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TCAATTTCATGGAAACAAAAT	0.438000													38	70					0	0	1	0	0
UCN3	114131	broad.mit.edu	37	10	5415840	5415840	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:5415840C>T	ENST00000380433.3	+	2	385	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	53						extracellular region	hormone activity			endometrium(1)|large_intestine(1)	2						GGATGCATCCCTGCTGAGCAA	0.592000													5	17					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89911136	89911136	+	Missense_Mutation	SNP	G	G	A	rs150474449		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:89911136G>A	ENST00000534061.1	+	16	1939	c.1709G>A	c.(1708-1710)cGa>cAa	p.R570Q	NAALAD2_ENST00000321955.4_Missense_Mutation_p.R537Q|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	570	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCTCAATTACGAGGAGCACTG	0.348000													36	26					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283082	69283082	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:69283082C>T	ENST00000338352.2	+	1	742	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	236	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						TCGAGGTGATCCAGGCCGACT	0.612000													19	5					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224646	59224646	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:59224646C>T	ENST00000300127.2	+	1	236	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I71I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCCTGGACATCGTTTTTTCAT	0.463000													41	37					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083864	9083864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9083864G>A	ENST00000397910.4	-	1	8154	c.7951C>T	c.(7951-7953)Cct>Tct	p.P2651S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2651	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						GCAGTGAGAGGGATGGCTGGA	0.507000													14	21					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136321797	136321797	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:136321797T>G	ENST00000371929.3	+	27	4292	c.3848T>G	c.(3847-3849)cTg>cGg	p.L1283R	ADAMTS13_ENST00000355699.2_Missense_Mutation_p.L1227R|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.L1196R|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.L79R	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1283	CUB 1.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGTGGGGTGCTGCTGCGGTAT	0.617000													4	5					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17109539	17109539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:17109539G>A	ENST00000418129.2	+	5	3273	c.2808G>A	c.(2806-2808)tgG>tgA	p.W936*	PLCL2_ENST00000396755.2_Nonsense_Mutation_p.W936*|PLCL2_ENST00000432376.1_Nonsense_Mutation_p.W936*	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1062					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCTTTACCTGGAATATTACCA	0.408000													25	84					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77530252	77530252	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:77530252C>T	ENST00000461745.1	+	4	1449	c.549C>T	c.(547-549)atC>atT	p.I183I	ROBO2_ENST00000487694.3_Silent_p.I199I|ROBO2_ENST00000332191.8_Silent_p.I183I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	183	Ig-like C2-type 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTTAACAGATCCGTGGTGGAA	0.363000													60	41					0	0	1	0	0
DUS2	54920	broad.mit.edu	37	16	68112356	68112356	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:68112356C>T	ENST00000565263.1	+	16	1673	c.1179C>T	c.(1177-1179)cgC>cgT	p.R393R	DUS2L_ENST00000432752.1_Silent_p.R358R|RP11-67A1.2_ENST00000548144.1_RNA|DUS2L_ENST00000358896.6_Silent_p.R393R	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		393	DRBM.				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		AGGTTCAACGCCCTCTAGATC	0.463000													36	73					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48631188	48631188	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:48631188C>T	ENST00000263274.7	-	20	2330	c.1911G>A	c.(1909-1911)gtG>gtA	p.V637V	LIG1_ENST00000536218.1_Silent_p.V569V|LIG1_ENST00000427526.2_Silent_p.V606V	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	637					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGGTGGTGAGCACTTGGAATG	0.577000								Nucleotide excision repair (NER)					101	165					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160059352	160059352	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:160059352C>T	ENST00000327245.5	-	13	2250	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	468					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTCCAGCTCCTTTGGGGTCT	0.517000													65	55					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101590581	101590581	+	Silent	SNP	T	T	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:101590581T>A	ENST00000370449.4	+	21	2969	c.2856T>A	c.(2854-2856)atT>atA	p.I952I		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	952						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AAAAACTAATTAAGAAGGAAT	0.388000													22	34					0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34179674	34179674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:34179674C>T	ENST00000266483.2	+	3	1565	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	416					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGGAATTTCGTTACTTCAT	0.348000													43	78					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060459	16060459	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:16060459C>T	ENST00000322107.1	+	1	642	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCTGTTTATTCCTCATCATCC	0.488000													72	155					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25404711	25404711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:25404711G>A	ENST00000255324.5	+	17	2387	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	RNF17_ENST00000381921.1_Missense_Mutation_p.D779N	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	779	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TAAAATAAAGGATGAGTTTCT	0.328000													59	56					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16926096	16926096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:16926096G>A	ENST00000552788.1	+	18	4651	c.4651G>A	c.(4651-4653)Gaa>Aaa	p.E1551K	NWD1_ENST00000339803.6_Missense_Mutation_p.E1416K|NWD1_ENST00000379808.3_3'UTR|NWD1_ENST00000523826.1_Missense_Mutation_p.E1345K|NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000549814.1_Missense_Mutation_p.E1509K			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1551							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCAGGGAAATGAAACCAAATC	0.473000													7	24					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041240	107041240	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:107041240A>T	ENST00000409886.3	-	20	3270	c.3183T>A	c.(3181-3183)taT>taA	p.Y1061*	RGPD3_ENST00000304514.7_Nonsense_Mutation_p.Y1061*	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1061	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCCCCTGTGAATACAGAACTT	0.393000													110	229					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156581	22156581	+	Missense_Mutation	SNP	G	G	A	rs113734787		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:22156581G>A	ENST00000397126.4	-	4	1403	c.1255C>T	c.(1255-1257)Cat>Tat	p.H419Y	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATGACCTCA	0.373000													10	35					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723273	58723273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:58723273G>A	ENST00000300079.5	+	7	825	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	GLYATL1_ENST00000317391.4_Missense_Mutation_p.E228K|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	228						mitochondrion	glycine N-acyltransferase activity	p.E259K(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCCTTCTTGTGAAGTAGGAAT	0.512000													9	25					0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74641821	74641821	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:74641821G>A	ENST00000541184.1	-	8	1191	c.714C>T	c.(712-714)gcC>gcT	p.A238A	ZDHHC15_ENST00000373367.3_Silent_p.A247A|ZDHHC15_ENST00000373361.3_3'UTR	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	247						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GAGTGCAGAAGGCCTCTAAGG	0.408000													10	6					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974661	20974661	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:20974661G>A	ENST00000261383.3	-	53	10544	c.10545C>T	c.(10543-10545)tcC>tcT	p.S3515S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3515	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACAGCAGCTGGAATCATTGT	0.498000													16	40					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063416	170063416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:170063416G>A	ENST00000263816.3	-	39	7099	c.6814C>T	c.(6814-6816)Cgt>Tgt	p.R2272C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2272					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R2272C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGCCATAACGAATCACTTCA	0.393000													36	50					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187078777	187078777	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:187078777C>T	ENST00000356371.5	+	8	1506	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L	FAM149A_ENST00000514153.1_Silent_p.L211L|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Silent_p.L211L|FAM149A_ENST00000389354.5_Silent_p.L211L|FAM149A_ENST00000227065.4_Silent_p.L211L|FAM149A_ENST00000502970.1_Silent_p.L211L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	502										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CGCACGTCCTCGTTCCACACG	0.542000													37	46					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			139	114					0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50667138	50667138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:50667138C>T	ENST00000268459.3	+	10	1083	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	287					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGAACTGCCCCCCCGCACCTC	0.597000													39	56					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49046862	49046862	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:49046862C>T	ENST00000226432.4	+	14	2046	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	CWH43_ENST00000513409.1_Silent_p.I594I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	621	Required for function in lipid remodeling (By similarity).				GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAGGGCTGATCAGGTGAGCAC	0.353000													28	103					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606660	84606660	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:84606660C>T	ENST00000344803.2	+	4	1322	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GGGGTGATTTCCTGATGTGGA	0.428000													21	17					0	0	1	0	0
FGF2	2247	broad.mit.edu	37	4	123813469	123813469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:123813469G>A	ENST00000264498.3	+	3	853	c.785G>A	c.(784-786)cGa>cAa	p.R262Q		NM_002006.4	NP_001997.5	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	262	Heparin-binding (By similarity).				activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	GCACTGAAACGAACTGGGCAG	0.398000													96	91					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152765628	152765628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:152765628G>A	ENST00000367255.5	-	30	4356	c.3755C>T	c.(3754-3756)tCt>tTt	p.S1252F	SYNE1_ENST00000265368.4_Missense_Mutation_p.S1252F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1318F|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1252F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1259F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1259F|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1242F|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1252F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1252					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACTTCTTTAGAGCCAGAAAT	0.363000										HNSCC(10;0.0054)			56	14					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50690906	50690906	+	Missense_Mutation	SNP	G	G	A	rs61760163	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:50690906G>A	ENST00000355832.5	-	10	2074	c.1996C>T	c.(1996-1998)Cgc>Tgc	p.R666C	ERCC6_ENST00000542458.1_Missense_Mutation_p.R36C	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	666	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGAGGGGTGCGAAACTATTTG	0.433000								Direct reversal of damage;Nucleotide excision repair (NER)					17	32					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72288613	72288613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:72288613C>T	ENST00000334456.5	-	31	2886	c.2641G>A	c.(2641-2643)Gcg>Acg	p.A881T	PDE2A_ENST00000418754.2_Missense_Mutation_p.A766T|PDE2A_ENST00000444035.2_Missense_Mutation_p.A872T|PDE2A_ENST00000544570.1_Missense_Mutation_p.A874T|PDE2A_ENST00000376450.3_Missense_Mutation_p.A625T|PDE2A_ENST00000540345.1_Missense_Mutation_p.A872T	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	881	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AGCTCTGCCGCTTTGGGGAAC	0.612000													42	30					0	0	1	0	0
RP11-640M9.2	0	broad.mit.edu	37	1	144598595	144598595	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:144598595C>T	ENST00000419820.1	+	0	523																											TTACCGTCCTCCTGAGGGTGT	0.562000													8	20					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23530677	23530677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:23530677C>T	ENST00000262710.1	-	17	3755	c.3428G>A	c.(3427-3429)cGg>cAg	p.R1143Q	ACIN1_ENST00000397341.3_Missense_Mutation_p.R385Q|ACIN1_ENST00000338631.6_Missense_Mutation_p.R416Q|ACIN1_ENST00000357481.2_Missense_Mutation_p.R385Q|ACIN1_ENST00000557515.1_Missense_Mutation_p.R384Q|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1130Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1085Q|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1103Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1143	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCACTGTTCCCGCACTGCCCG	0.682000													66	96					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62751564	62751564	+	Silent	SNP	A	A	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:62751564A>C	ENST00000383710.4	-	2	886	c.537T>G	c.(535-537)gcT>gcG	p.A179A	CADPS_ENST00000357948.3_Silent_p.A179A|CADPS_ENST00000283269.9_Silent_p.A179A|CADPS_ENST00000490353.2_Silent_p.A179A	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	179					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AACTCTGCACAGCGTTCATGA	0.522000													14	66					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7645637	7645637	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:7645637C>T	ENST00000340080.4	+	12	2887	c.2466C>T	c.(2464-2466)aaC>aaT	p.N822N	MIOS_ENST00000405785.1_Silent_p.N822N	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	822								p.N822N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATTTAACAACTGGTTTACAT	0.378000													31	66					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661463	77661463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:77661463G>A	ENST00000296043.6	+	5	3090	c.2137G>A	c.(2137-2139)Ggg>Agg	p.G713R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	713					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCTGACCTCGGGAGCCATCT	0.672000													61	64					0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281758	125281758	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:125281758C>T	ENST00000340750.1	+	1	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TAGACAATTTCCTTCTCACTT	0.408000													37	53					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649087	47649087	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:47649087C>T	ENST00000398742.2	+	5	637	c.588C>T	c.(586-588)atC>atT	p.I196I	GPR111_ENST00000507065.1_Silent_p.I196I|GPR111_ENST00000296862.1_Silent_p.I264I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	264					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCAGCTATATCCTGCTACATT	0.408000													62	89					0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794821	7794821	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:7794821C>T	ENST00000328853.5	-	8	697	c.627_splice	c.e8-1	p.G210_splice		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	210	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						AGTGAGGAAGCCCTAGAAAGG	0.687000													20	24					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371563	126371563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:126371563G>A	ENST00000394329.3	+	9	9405	c.9392G>A	c.(9391-9393)gGa>gAa	p.G3131E	FAT4_ENST00000335110.5_Missense_Mutation_p.G1429E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3131	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTTCTTCAGGAAATGAAGAA	0.398000													31	33					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735788	158735788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:158735788G>A	ENST00000335094.2	-	1	704	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCAGCTGAGGGAATTCTGAGC	0.498000													35	110					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496717	24496717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:24496717G>A	ENST00000284224.8	-	6	1115	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.R280C	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	280					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)					ATGGGATCACGAACAAACACA	0.388000													35	61					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13920635	13920635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:13920635C>T	ENST00000265104.4	-	6	856	c.752G>A	c.(751-753)gGa>gAa	p.G251E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	251	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCTATTTTTCCCAAAGTCTC	0.393000									Kartagener syndrome				73	123					0	0	1	0	0
TRUB1	142940	broad.mit.edu	37	10	116732026	116732026	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:116732026C>T	ENST00000298746.3	+	6	790	c.729C>T	c.(727-729)ttC>ttT	p.F243F		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	243					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CACCATTTTTCACATTAGGTA	0.358000													18	53					0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68788334	68788334	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:68788334C>T	ENST00000295569.7	-	5	795	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	101						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		ACCACCATTTCTGAATCACAA	0.398000													26	108					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403767	47403767	+	Missense_Mutation	SNP	C	C	T	rs145173494	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:47403767C>T	ENST00000310638.4	-	2	269	c.238G>A	c.(238-240)Gag>Aag	p.E80K	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.E80K|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.E80K	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	80					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGGAATGTCTCCACCCATTTC	0.488000													40	111					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138425364	138425364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:138425364G>A	ENST00000409968.1	+	27	4850	c.4672G>A	c.(4672-4674)Gtt>Att	p.V1558I	THSD7B_ENST00000413152.2_Missense_Mutation_p.V1530I|THSD7B_ENST00000272643.3_Missense_Mutation_p.V1561I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAAAATTTGGGTTTATGGCGT	0.363000													2	4					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12819292	12819292	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:12819292G>A	ENST00000379672.5	+	5	651	c.351G>A	c.(349-351)gaG>gaA	p.E117E	ARHGAP44_ENST00000340825.3_Silent_p.E117E|ARHGAP44_ENST00000262444.9_Silent_p.E117E	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	117	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGCAAGTAGAGAGAGACGTGA	0.517000													10	34					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413575	178413575	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:178413575C>T	ENST00000231188.5	-	8	1858	c.1680G>A	c.(1678-1680)ggG>ggA	p.G560G	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.G560G	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	560					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCCTCATGTCCCCAGGACAGG	0.692000													23	23					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152668338	152668338	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:152668338G>A	ENST00000367255.5	-	73	12535	c.11934C>T	c.(11932-11934)gaC>gaT	p.D3978D	SYNE1_ENST00000265368.4_Silent_p.D3978D|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Silent_p.D3907D|SYNE1_ENST00000423061.1_Silent_p.D3907D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3978					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTTCAAACGGTCTTCAAAAC	0.378000										HNSCC(10;0.0054)			32	16					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220501404	220501404	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:220501404C>T	ENST00000358055.3	+	16	2855	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	SLC4A3_ENST00000373760.2_Silent_p.F781F|SLC4A3_ENST00000317151.3_Silent_p.F781F|SLC4A3_ENST00000273063.6_Silent_p.F808F|SLC4A3_ENST00000373762.3_Silent_p.F808F			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	781	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCTAGTTCTGCCGAGCCC	0.642000													20	29					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102748634	102748634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:102748634G>A	ENST00000370228.1	+	1	852	c.667G>A	c.(667-669)Gag>Aag	p.E223K	C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Missense_Mutation_p.E223K	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	223					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAAGCTCCTAGAGGCTAAATG	0.547000													16	23					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72952008	72952008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:72952008C>T	ENST00000262209.4	-	18	2293	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	696						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGAGAAGCTCTATGCGGTTA	0.299000													30	35					0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57136835	57136835	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:57136835G>A	ENST00000263314.2	+	11	1038	c.1002_splice	c.e11-1	p.G335_splice		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	335					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CTCCTCCAGGGAACTGTTCTC	0.627000													61	158					0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53823400	53823400	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:53823400C>T	ENST00000257863.4	+	8	1211	c.1131C>T	c.(1129-1131)gcC>gcT	p.A377A	AMHR2_ENST00000379791.3_Silent_p.A377A|AMHR2_ENST00000550311.1_Silent_p.A377A	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	377	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCCCAGCTGCCATCATGGAAG	0.562000													8	13					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132211580	132211580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:132211580C>T	ENST00000261674.4	+	6	1069	c.928C>T	c.(928-930)Ctt>Ttt	p.L310F	SFSWAP_ENST00000541286.1_Missense_Mutation_p.L310F	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	310					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GTGTAACCGCCTTGAAGAGCT	0.378000													15	28					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442398	138442398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:138442398G>A	ENST00000344876.4	-	4	3579	c.3193C>T	c.(3193-3195)Ccc>Tcc	p.P1065S	PCDH18_ENST00000507846.1_Missense_Mutation_p.P844S|PCDH18_ENST00000412923.2_Missense_Mutation_p.P1064S|PCDH18_ENST00000511115.1_Missense_Mutation_p.P245S|PCDH18_ENST00000510305.1_Missense_Mutation_p.P276S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1065	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGGTGGTGGGATTTTGAAAA	0.562000													15	43					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346753	48346753	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:48346753C>T	ENST00000319856.4	+	1	282	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTATTTTTTCCTGGCCAACC	0.453000													7	57					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980499	121980499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:121980499G>A	ENST00000498619.1	+	4	1055	c.617G>A	c.(616-618)tGg>tAg	p.W206*	CASR_ENST00000296154.5_Nonsense_Mutation_p.W206*|CASR_ENST00000490131.1_Nonsense_Mutation_p.W206*	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	206					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TATTTCCGCTGGAACTGGGTG	0.522000													57	145					0	0	1	0	0
GNA14	9630	broad.mit.edu	37	9	80144078	80144078	+	Silent	SNP	C	C	T	rs140008129		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:80144078C>T	ENST00000341700.6	-	2	729	c.216G>A	c.(214-216)acG>acA	p.T72T		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	72					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						AAACCAGCTTCGTGAACCCCT	0.448000													95	177					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1208887	1208887	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:1208887C>T	ENST00000304460.10	+	2	285	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	77					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTTCCTCATCCTGCTGGTCCT	0.677000													68	26					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31570499	31570499	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:31570499C>T	ENST00000379416.3	-	29	3213	c.3165G>A	c.(3163-3165)ctG>ctA	p.L1055L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1055					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGGGGATTTTCAGAGCTCTAC	0.527000													35	38					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140218300	140218300	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:140218300G>A	ENST00000340951.4	-	19	2256	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	EXD3_ENST00000342129.4_Silent_p.A338A	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	687					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCCCGACCTGGGCCCGGAGCT	0.692000													13	12					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170558	113170558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:113170558G>A	ENST00000401783.2	-	38	7658	c.7322C>T	c.(7321-7323)cCc>cTc	p.P2441L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P2418L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P367L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2441	Sushi 18.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCAGGTTGGGGACATTCTAC	0.502000													10	27					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212851	26212851	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:26212851C>T	ENST00000379034.1	+	2	1037	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	296	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TTGTGATCTTCATGAACGGCA	0.537000													71	27					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	659046	659046	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:659046C>T	ENST00000255622.6	+	19	2239	c.2196C>T	c.(2194-2196)gtC>gtT	p.V732V	PDE6B_ENST00000496514.1_Silent_p.V732V|PDE6B_ENST00000429163.2_Silent_p.V453V	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	732					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCCTCCAGGTCGCACTTCTCG	0.632000													16	30					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48132950	48132950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:48132950G>A	ENST00000405493.2	-	24	2520	c.2311C>T	c.(2311-2313)Ccc>Tcc	p.P771S	RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.P813S|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.P813S|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.P771S|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.P704S|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.P771S	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	771					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGCATGAAGGGGATGACAGGA	0.607000													16	25					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12898338	12898338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:12898338G>A	ENST00000338034.4	-	20	2089	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	ELAC2_ENST00000426905.3_Missense_Mutation_p.S577F|ELAC2_ENST00000395962.2_Missense_Mutation_p.S598F	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	617					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TGCAGGACTGGAGATCTCAGC	0.468000													157	127					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72397146	72397146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:72397146G>A	ENST00000359373.5	-	33	5094	c.4243C>T	c.(4243-4245)Cga>Tga	p.R1415*	ARAP1_ENST00000455638.2_Nonsense_Mutation_p.R1415*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.R1109*|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.R1181*|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.R1426*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.R1186*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.R1170*			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1426					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCACTACCTCGAAGGGGGATC	0.652000													42	35					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212293154	212293154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:212293154G>A	ENST00000342788.4	-	22	3008	c.2698C>T	c.(2698-2700)Cag>Tag	p.Q900*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.Q890*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.Q900*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	900	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACGTCACTCTGATGGGTGAAT	0.299000										TSP Lung(8;0.080)			25	40					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35779280	35779280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:35779280G>A	ENST00000440995.2	+	30	4264	c.4264G>A	c.(4264-4266)Gaa>Aaa	p.E1422K	SPEF2_ENST00000356031.3_Missense_Mutation_p.E1427K|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_5'UTR			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1427					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATTCAGAATGAACTTTATTT	0.373000													26	55					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284863	52284863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:52284863G>A	ENST00000301190.6	+	5	1360	c.1133G>A	c.(1132-1134)gGc>gAc	p.G378D	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000340970.4_Intron	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	13										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGCCCTCAGGGCATATTGAGC	0.642000													28	30					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389761	158389761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:158389761G>A	ENST00000314902.2	-	1	895	c.896C>T	c.(895-897)tCa>tTa	p.S299L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	299					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)					ACAAAGAGCTGATTTGAACTC	0.363000													9	28					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49440517	49440517	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:49440517C>A	ENST00000301067.7	-	15	4292	c.4293G>T	c.(4291-4293)gaG>gaT	p.E1431D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCCACACACCTCACACACAA	0.572000													3	48					1	1	1	1	0
SPATA8	145946	broad.mit.edu	37	15	97328288	97328288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:97328288C>T	ENST00000328504.3	+	3	526	c.259C>T	c.(259-261)Cca>Tca	p.P87S	SPATA8_ENST00000558553.1_Missense_Mutation_p.P46L	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	87										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			ATCTGCTTCCCCACTGATTCA	0.448000													37	59					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162576	33162576	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:33162576G>A	ENST00000510327.1	-	0	346																											AGACCCTGGTGAAGAATTGCA	0.512000													8	103					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73678374	73678374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:73678374G>A	ENST00000264448.6	+	8	4828	c.4717G>A	c.(4717-4719)Gga>Aga	p.G1573R	ALMS1_ENST00000409009.1_Missense_Mutation_p.G1531R|ALMS1_ENST00000377715.1_Missense_Mutation_p.G1573R	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1573	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTACTCATTTGGAGAGAAGCC	0.443000													21	48					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46265205	46265205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:46265205G>A	ENST00000372004.3	+	12	2291	c.2075G>A	c.(2074-2076)gGg>gAg	p.G692E	NCOA3_ENST00000371997.3_Missense_Mutation_p.G702E|NCOA3_ENST00000341724.6_Missense_Mutation_p.G702E|NCOA3_ENST00000371998.3_Missense_Mutation_p.G692E	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	692					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTGCAGAATGGGAATTCACCA	0.483000													57	44					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784321	151784321	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:151784321G>A	ENST00000255262.3	-	1	519	c.354C>T	c.(352-354)ggC>ggT	p.G118G	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	118					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TGAAGTAGCAGCCCACGGGCC	0.607000													37	85					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068456	189068456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:189068456C>T	ENST00000332517.3	+	6	1477	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	446	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTATCTTTTCCCCCTGCCTC	0.562000													32	96					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362198	49362198	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:49362198G>A	ENST00000263265.6	-	8	1446	c.891C>T	c.(889-891)ccC>ccT	p.P297P	PLEKHA4_ENST00000355496.5_Silent_p.P297P|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	297	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTCCTCGGCGGGGAGTAGGGG	0.662000													22	50					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142457342	142457342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142457342C>T	ENST00000486171.1	+	1	24	c.7C>T	c.(7-9)Cca>Tca	p.P3S	PRSS1_ENST00000311737.7_Missense_Mutation_p.P3S			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	3					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CACCATGAATCCACTCCTGAT	0.572000													42	90					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541605	55541605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:55541605G>A	ENST00000361760.1	+	1	692	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231Q(3)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATGAAGATGCGATCTGCAAGT	0.423000													48	35					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49052843	49052843	+	Silent	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:49052843T>C	ENST00000226432.4	+	15	2181	c.1998T>C	c.(1996-1998)tcT>tcC	p.S666S	CWH43_ENST00000513409.1_Silent_p.S639S	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	666					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAGAAGTTTCTGAGAAAATTC	0.388000													25	34					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366251	10366251	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:10366251G>A	ENST00000255381.2	-	11	1049	c.939C>T	c.(937-939)ttC>ttT	p.F313F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	313	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGACAAATGCGAAGTCATATG	0.408000													41	56					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48619946	48619946	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:48619946G>A	ENST00000435803.1	+	56	14505	c.14481G>A	c.(14479-14481)ggG>ggA	p.G4827G	ABCA13_ENST00000544596.1_Silent_p.G557G	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4827	ABC transporter 2.				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						GCTTACGCGGGATTCCAAGGC	0.547000													6	11					0	0	1	0	0
TRAV8-7	28679	broad.mit.edu	37	14	22600803	22600803	+	RNA	SNP	C	C	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:22600803C>G	ENST00000390456.3	+	0	148																											AGTTCCTTCTCTCTTCTGGTA	0.502000													12	12					0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2610036	2610036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:2610036G>A	ENST00000155840.5	+	10	1453	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	KCNQ1_ENST00000335475.5_Missense_Mutation_p.E322K	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	449					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CGACCCCCCAGAAGAGCGGCG	0.562000													7	17					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23883076	23883076	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:23883076G>A	ENST00000355349.3	-	39	5844	c.5682C>T	c.(5680-5682)tcC>tcT	p.S1894S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1894					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCGGAACTTGGACAGGTTGG	0.637000													34	66					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271851	164271851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:164271851G>A	ENST00000515560.1	+	4	1948	c.426G>A	c.(424-426)atG>atA	p.M142I	NPY5R_ENST00000338566.3_Missense_Mutation_p.M142I|NPY5R_ENST00000506953.1_Missense_Mutation_p.M142I			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	142					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTATCATATGATAAAACATC	0.363000													44	170					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136578247	136578247	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:136578247C>T	ENST00000371872.4	-	9	1408		c.e9-1		SARDH_ENST00000439388.1_Splice_Site|SARDH_ENST00000422262.2_Splice_Site	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase						glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTGAAGGATTCTGAAAGAAGG	0.602000													6	8					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155902	106155902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:106155902C>T	ENST00000540549.1	+	3	1663	c.803C>T	c.(802-804)tCg>tTg	p.S268L	TET2_ENST00000305737.2_Missense_Mutation_p.S268L|TET2_ENST00000513237.1_Missense_Mutation_p.S289L|TET2_ENST00000545826.1_Missense_Mutation_p.S268L|TET2_ENST00000394764.1_Missense_Mutation_p.S268L|TET2_ENST00000380013.4_Missense_Mutation_p.S268L|TET2_ENST00000413648.2_Missense_Mutation_p.S268L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	268					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S268W(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACTCACCCATCGCATACCTCA	0.498000			"""Mis N, F"""		MDS								12	38					0	0	1	0	0
FOXH1	8928	broad.mit.edu	37	8	145700198	145700198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:145700198C>T	ENST00000377317.4	-	3	1099	c.521G>A	c.(520-522)gGa>gAa	p.G174E		NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	174					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD 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			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCCGGACCCTCCTAGCAGGGA	0.711000													17	15					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123512535	123512535	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:123512535A>T	ENST00000360772.3	-	5	532	c.154T>A	c.(154-156)Ttc>Atc	p.F52I	MYLK_ENST00000346322.5_Missense_Mutation_p.F52I|MYLK_ENST00000475616.1_Missense_Mutation_p.F52I|MYLK_ENST00000359169.1_Missense_Mutation_p.F52I|MYLK_ENST00000360304.3_Missense_Mutation_p.F52I			Q15746	MYLK_HUMAN	myosin light chain kinase	52	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGCCCTTCGAACTTGGCGGTG	0.602000													9	38					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516445	195516445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:195516445G>A	ENST00000463781.3	-	2	2465	c.2006C>T	c.(2005-2007)tCt>tTt	p.S669F	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S669F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	674					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGAAGGAAGAACCTGGGGT	0.577000													52	64					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016278	106016278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:106016278C>T	ENST00000255499.2	+	2	870	c.620C>T	c.(619-621)tCa>tTa	p.S207L	RNF128_ENST00000324342.3_Missense_Mutation_p.S181L	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	207						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AATCACTATTCAATTTTTTTC	0.388000													29	21					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2661599	2661599	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:2661599C>T	ENST00000324666.5	+	8	1041	c.690C>T	c.(688-690)ccC>ccT	p.P230P	FAM193A_ENST00000545951.1_Silent_p.P230P|FAM193A_ENST00000505311.1_Silent_p.P230P|FAM193A_ENST00000382839.3_Silent_p.P230P|FAM193A_ENST00000502458.1_Silent_p.P254P	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	230										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TGGACCCCCCCGTCACTGATG	0.527000													52	159					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31622000	31622000	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:31622000T>A	ENST00000349552.1	+	3	206	c.206T>A	c.(205-207)gTg>gAg	p.V69E		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	69						extracellular region	lipid binding										AGTTTGAAGGTGAAGGATGTC	0.537000													101	98					0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18609535	18609535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:18609535C>T	ENST00000330423.3	+	4	863	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	TUBA8_ENST00000316027.6_Missense_Mutation_p.R198C	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	264					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GCCCTACCCCCGCATCCACTT	0.567000													30	59					0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23709835	23709835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:23709835C>T	ENST00000290271.2	-	2	464	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	STC1_ENST00000524323.1_5'UTR	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	61					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GTGGAGTTTTCCAGGCATGCA	0.473000													51	51					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85952307	85952307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:85952307C>T	ENST00000268638.5	+	7	1308	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	IRF8_ENST00000562492.1_Missense_Mutation_p.R92C	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	296					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GTGCCAGGGCCGCGTGTTCTG	0.662000													10	18					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189916147	189916147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:189916147G>A	ENST00000374866.3	-	42	3104	c.2830C>T	c.(2830-2832)Cgt>Tgt	p.R944C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	944					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGTCCCCACGAAGACCTGGA	0.617000													15	16					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7811370	7811370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:7811370G>A	ENST00000420658.1	-	9	1297	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	AFAP1_ENST00000358461.2_Missense_Mutation_p.S342F|AFAP1_ENST00000360265.4_Missense_Mutation_p.S342F|AFAP1_ENST00000382543.3_Missense_Mutation_p.S342F	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	342						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTCAGCTGAGGAGGTCTGCTC	0.527000													33	25					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67699378	67699378	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:67699378T>A	ENST00000545606.1	+	10	2367	c.1930T>A	c.(1930-1932)Ttg>Atg	p.L644M		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	644					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAAGATAGATTTGAGGCCTGT	0.403000													33	53					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433383	72433383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:72433383C>T	ENST00000373517.3	-	1	1301	c.946G>A	c.(946-948)Gat>Aat	p.D316N	NAP1L2_ENST00000536638.1_Missense_Mutation_p.D174N	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	316					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GGATGGGGATCATAATATGCT	0.383000													57	15					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168065881	168065881	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:168065881G>A	ENST00000367838.1	-	5	1277	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	GPR161_ENST00000367836.1_Silent_p.L190L|GPR161_ENST00000546300.1_Silent_p.L208L|GPR161_ENST00000537209.1_Silent_p.L342L|GPR161_ENST00000271357.5_Silent_p.L322L|GPR161_ENST00000367835.1_Silent_p.L322L|GPR161_ENST00000361697.2_Silent_p.L322L|GPR161_ENST00000539777.1_Silent_p.L244L	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	322					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCATAGATCAGGGGGTGGCAG	0.572000													30	74					0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71175867	71175867	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:71175867G>A	ENST00000373306.4	-	1	756	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	71					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GATTGACGATGAAGTAGTTGG	0.577000													15	30					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54403691	54403691	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:54403691C>T	ENST00000263431.3	+	13	1674	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	PRKCG_ENST00000542049.1_Silent_p.I351I|PRKCG_ENST00000540413.1_Silent_p.I464I	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	464	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CGGCAGAAATCGCTATCGGCC	0.587000													10	24					0	0	1	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41131632	41131632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:41131632C>T	ENST00000421990.2	-	2	531	c.186G>A	c.(184-186)atG>atA	p.M62I	PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.M62I|PTGES3L_ENST00000453594.1_Missense_Mutation_p.M62I|PTGES3L_ENST00000409446.3_Intron|PTGES3L-AARSD1_ENST00000409103.1_Start_Codon_SNP_p.M1I|PTGES3L-AARSD1_ENST00000360221.4_Start_Codon_SNP_p.M1I	NM_001136042.2	NP_001129514.2																					CACAAAACTCCATGAACACAT	0.572000													27	21					0	0	1	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128975787	128975787	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:128975787G>A	ENST00000357166.6	-	3	526	c.135C>T	c.(133-135)atC>atT	p.I45I	ZDHHC9_ENST00000371064.3_Silent_p.I45I	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	45						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						ATGTCCCCAGGATGAGGAAAA	0.502000													45	17					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118558773	118558773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:118558773G>A	ENST00000336338.5	-	29	4167	c.4102C>T	c.(4102-4104)Cat>Tat	p.H1368Y		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1368						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCACCCTTATGGGCCATTGAT	0.393000													46	38					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344045	248344045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:248344045G>A	ENST00000359682.2	+	1	758	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGTACTATGGAGCAGCTTTG	0.498000													52	144					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844382	77844382	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:77844382G>A	ENST00000216471.4	+	1	907	c.621G>A	c.(619-621)gaG>gaA	p.E207E	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	207										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGTCTAGAGCCTCCAGAGC	0.458000													34	53					0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100052872	100052872	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:100052872A>T	ENST00000508393.1	-	7	848	c.683T>A	c.(682-684)gTg>gAg	p.V228E	ADH4_ENST00000265512.7_Missense_Mutation_p.V209E|ADH4_ENST00000423445.1_Missense_Mutation_p.V228E|ADH4_ENST00000505590.1_Missense_Mutation_p.V228E|RP11-696N14.1_ENST00000500358.2_RNA			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	209					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	AGAAAGACCCACACCTCCTAG	0.458000													14	67					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113283325	113283325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:113283325G>A	ENST00000362072.3	-	7	1435	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	DRD2_ENST00000542968.1_Missense_Mutation_p.S364F|DRD2_ENST00000538967.1_Missense_Mutation_p.S366F|DRD2_ENST00000346454.3_Missense_Mutation_p.S335F|DRD2_ENST00000544518.1_Missense_Mutation_p.S363F|DRD2_ENST00000355319.2_Missense_Mutation_p.S366F	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	364	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.S364F(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CTTCTGCTGGGAGAGCTTCCT	0.572000													42	11					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052928	15052928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:15052928C>T	ENST00000248072.3	+	1	628	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GGGTGTTTTTCCTCTCTGTGG	0.453000													14	40					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6975226	6975226	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:6975226G>A	ENST00000229268.8	+	20	2614	c.2562G>A	c.(2560-2562)caG>caA	p.Q854Q	USP5_ENST00000389231.5_Silent_p.Q831Q	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	854					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACTTCTACCAGAGAGTGGCCA	0.577000													11	35					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120293530	120293530	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:120293530C>T	ENST00000369406.3	-	9	1471	c.1420_splice	c.e9-1	p.V474_splice	HMGCS2_ENST00000544913.2_Splice_Site_p.V432_splice	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	474					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GGGAGAAATTCACTGTGGAAT	0.498000													8	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076735	9076735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9076735C>T	ENST00000397910.4	-	3	10914	c.10711G>A	c.(10711-10713)Gag>Aag	p.E3571K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3572	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						GTGCGCCTCTCTGTGGCCGGG	0.517000													32	57					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142564271	142564271	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142564271C>G	ENST00000392957.2	+	10	2282	c.1495C>G	c.(1495-1497)Cgg>Ggg	p.R499G	EPHB6_ENST00000411471.2_Missense_Mutation_p.R222G|EPHB6_ENST00000442129.1_Missense_Mutation_p.R499G	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	499	Fibronectin type-III 2.		R -> Q (in dbSNP:rs8177175).			extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCAGGTGAGCCGGGCATCCAA	0.582000													34	63					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42626516	42626516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:42626516C>T	ENST00000389341.5	-	3	175	c.109G>A	c.(109-111)Gga>Aga	p.G37R	POU2F2_ENST00000342301.4_Missense_Mutation_p.G37R|POU2F2_ENST00000529952.1_Missense_Mutation_p.G37R|POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000560558.1_Missense_Mutation_p.G37R|POU2F2_ENST00000529067.1_Missense_Mutation_p.G37R|POU2F2_ENST00000526816.2_Missense_Mutation_p.G37R|POU2F2_ENST00000560398.1_Missense_Mutation_p.G37R|POU2F2_ENST00000533720.1_Missense_Mutation_p.G37R	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	37					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GTGTCTGGTCCATTTCTTTCG	0.572000													51	89					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347050	48347050	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:48347050C>T	ENST00000319856.4	+	1	579	c.558C>T	c.(556-558)ctC>ctT	p.L186L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTCAGCTCCTCCTGGTCCTTT	0.527000													16	95					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24358083	24358083	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:24358083C>T	ENST00000005284.3	+	2	1442	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	80					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAAGAAAATCGATCACTTCC	0.582000													29	37					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47630056	47630056	+	Missense_Mutation	SNP	C	C	T	rs141120293		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:47630056C>T	ENST00000546455.1	+	4	1941	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C	PCED1B_ENST00000432328.1_Missense_Mutation_p.R404C					PC-esterase domain containing 1B									p.R404C(2)									TGGCAGGTATCGTCCCCGTGG	0.592000													13	24					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230950	21230950	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:21230950T>G	ENST00000233242.1	-	26	8917	c.8790A>C	c.(8788-8790)aaA>aaC	p.K2930N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2930					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGCAGGCCCATTTCCATGACC	0.473000													45	63					0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1615563	1615563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:1615563G>A	ENST00000395423.3	-	14	1582	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S	TCF3_ENST00000262965.5_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000588136.1_Intron			P15923	TFE2_HUMAN	transcription factor 3	533					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACAGTGAGGTTGGGGGAAG	0.697000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								14	17					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34192284	34192284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:34192284G>A	ENST00000373381.4	-	16	2547	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	751	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCACCACAGGGAGCTGGGGGG	0.522000													5	32					0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657598	1657598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:1657598C>T	ENST00000324015.3	+	10	1323	c.1246C>T	c.(1246-1248)Ctc>Ttc	p.L416F	SERPINF2_ENST00000382061.4_Missense_Mutation_p.L416F|SERPINF2_ENST00000450523.2_Missense_Mutation_p.L352F	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	416					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CCGCCCCTTCCTCTTCTTCAT	0.652000													97	79					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5687656	5687656	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:5687656G>A	ENST00000327087.8	-	22	2333	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F	ANO2_ENST00000356134.5_Silent_p.F755F|ANO2_ENST00000546188.1_Silent_p.F755F			Q9NQ90	ANO2_HUMAN	anoctamin 2	759						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.F754F(1)|p.F755F(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGAGGCCACGAAGAGGGTGA	0.552000													11	14					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71318539	71318539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:71318539C>T	ENST00000370932.2	-	3	1311	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	PTGER3_ENST00000460330.1_Missense_Mutation_p.E370K|PTGER3_ENST00000351052.5_3'UTR|PTGER3_ENST00000370931.3_3'UTR	NM_198717.1	NP_942010.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	361					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CCCCAAAATTCCTCCTGGAAA	0.323000													122	108					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139856336	139856336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:139856336C>T	ENST00000303045.6	-	4	1170	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	COL22A1_ENST00000435777.1_Missense_Mutation_p.E242K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	242	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGTGATTTCCTTGGTTCCT	0.478000										HNSCC(7;0.00092)			114	115					0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48092454	48092454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:48092454G>A	ENST00000348904.3	+	7	975	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	C7orf57_ENST00000435376.1_Missense_Mutation_p.E117K|C7orf57_ENST00000430738.1_Missense_Mutation_p.E300K|C7orf57_ENST00000539619.1_Missense_Mutation_p.E255K|C7orf57_ENST00000420324.1_Missense_Mutation_p.E284K	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	255										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						ACGAGACCTGGAAGGTCCCCA	0.577000													16	23					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16531317	16531317	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:16531317A>T	ENST00000270747.3	-	12	1980	c.1844T>A	c.(1843-1845)cTg>cAg	p.L615Q	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	615	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGCTGGACAGCTTCAGCTT	0.597000													10	4					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34014390	34014390	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:34014390C>T	ENST00000297161.2	+	7	944	c.570C>T	c.(568-570)tcC>tcT	p.S190S	BMPER_ENST00000426693.1_Silent_p.S190S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	190	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCAAGTGTTCCTGCACTGTAA	0.507000													38	59					0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228596752	228596752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:228596752C>T	ENST00000456946.2	-	6	1379	c.1004G>A	c.(1003-1005)gGt>gAt	p.G335D	TRIM17_ENST00000366698.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Intron|TRIM17_ENST00000366697.2_Intron	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TAGCCAGTGACCGTCACCAGG	0.577000													8	6					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													3	61					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167525063	167525063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:167525063G>A	ENST00000519204.1	+	8	1499	c.1381G>A	c.(1381-1383)Ggg>Agg	p.G461R	TENM2_ENST00000403607.2_Missense_Mutation_p.G415R|TENM2_ENST00000520394.1_Missense_Mutation_p.G350R|TENM2_ENST00000518659.1_Missense_Mutation_p.G582R|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.G582R					teneurin transmembrane protein 2																		TAACTGCCATGGGAATGGTGA	0.473000													25	22					0	0	1	0	0
IL33	90865	broad.mit.edu	37	9	6252883	6252883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:6252883G>A	ENST00000381434.3	+	4	374	c.361G>A	c.(361-363)Gag>Aag	p.E121K	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	121					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		ACCTATTACAGAGTATCTTGC	0.313000													26	19					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48559827	48559827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:48559827C>T	ENST00000435803.1	+	53	14012	c.13988C>T	c.(13987-13989)tCg>tTg	p.S4663L	ABCA13_ENST00000544596.1_Missense_Mutation_p.S393L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4663					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						CAACTGGCCTCGCAGGGCACA	0.512000													10	16					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98058819	98058819	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:98058819G>A	ENST00000370192.3	-	10	1183	c.1083C>T	c.(1081-1083)atC>atT	p.I361I		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	361					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCTGAAGACGATGAACACAC	0.458000													25	111					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52361759	52361759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:52361759C>T	ENST00000296585.5	+	15	2038	c.1895C>T	c.(1894-1896)tCc>tTc	p.S632F		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	632					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AATGGGGATTCCATCACCGAT	0.448000													13	24					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40711325	40711325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:40711325C>T	ENST00000454349.2	+	20	4928	c.4717C>T	c.(4717-4719)Ccc>Tcc	p.P1573S	TNRC6B_ENST00000335727.8_Missense_Mutation_p.P1463S|TNRC6B_ENST00000301923.9_Missense_Mutation_p.P769S|TNRC6B_ENST00000402203.1_Missense_Mutation_p.P769S	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1573					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GTCCCCAGATCCCATAGGACA	0.458000													19	39					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134623944	134623944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:134623944C>T	ENST00000368586.5	-	57	7733	c.7633G>A	c.(7633-7635)Gaa>Aaa	p.E2545K	TTC40_ENST00000263170.5_Missense_Mutation_p.E706K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	706										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CACTCATCTTCTGAAGGAGAC	0.632000													31	49					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27288404	27288404	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:27288404C>T	ENST00000397501.1	+	13	1489	c.681C>T	c.(679-681)ttC>ttT	p.F227F	PTK2B_ENST00000346049.5_Silent_p.F227F|PTK2B_ENST00000338238.4_Silent_p.F227F|PTK2B_ENST00000517339.1_Silent_p.F227F|PTK2B_ENST00000420218.2_Silent_p.F227F|PTK2B_ENST00000544172.1_Silent_p.F227F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	227	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCAAACAGTTCCGGAAGATGA	0.602000													62	55					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627571	21627571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:21627571G>A	ENST00000425654.2	+	19	2918	c.2438G>A	c.(2437-2439)cGa>cAa	p.R813Q	CNKSR2_ENST00000543067.1_Missense_Mutation_p.R794Q|CNKSR2_ENST00000279451.4_Missense_Mutation_p.R843Q|CNKSR2_ENST00000379510.3_Missense_Mutation_p.R843Q	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	843					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGCAAGCCTCGAAGTTTTACT	0.532000													36	17					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786775	121786775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:121786775G>A	ENST00000261367.7	+	12	3802	c.2374G>A	c.(2374-2376)Ggc>Agc	p.G792S	SNCAIP_ENST00000414317.2_Missense_Mutation_p.G347S|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.G303S|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G745S|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G685S|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G379S|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G792S|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	745					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ATCCCTGGATGGCCACAGCCC	0.557000													14	49					0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34190548	34190548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:34190548C>T	ENST00000311880.2	-	7	731	c.583G>A	c.(583-585)Gag>Aag	p.E195K	C17orf66_ENST00000592980.1_Missense_Mutation_p.E155K	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	195							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TTCACTTTCTCTGGACCAGTT	0.478000													47	49					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176042	57176042	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:57176042G>A	ENST00000537055.2	-	2	756	c.525C>T	c.(523-525)ttC>ttT	p.F175F		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.F197L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGCCCTGGCTGAAGGCCTTGC	0.706000													6	10					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433644	69433644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:69433644C>T	ENST00000317746.2	-	1	601	c.559G>A	c.(559-561)Gga>Aga	p.G187R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	187					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AACAGAAATCCTCCACCATTC	0.403000													56	13					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4260977	4260977	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:4260977G>A	ENST00000404826.2	+	40	5947	c.5808G>A	c.(5806-5808)gtG>gtA	p.V1936V	SDK1_ENST00000389531.3_Silent_p.V1916V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1936	Fibronectin type-III 13.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGGCTATGTGATCGAGGCCC	0.637000													4	11					0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31267970	31267970	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:31267970C>T	ENST00000579849.1	+	8	1071	c.640C>T	c.(640-642)Cca>Tca	p.P214S	TMEM98_ENST00000394642.3_Missense_Mutation_p.P214S|TMEM98_ENST00000578289.1_Intron	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	214						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			TAAAGGCCTCCCAGGCCCTGA	0.597000													16	14					0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959335	117959335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:117959335G>A	ENST00000310164.2	+	4	635	c.128G>A	c.(127-129)aGa>aAa	p.R43K		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ATGGCAGACAgaaacatgaag	0.567000													22	8					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811776	23811776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:23811776G>A	ENST00000314520.3	+	1	1323	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	283	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGCCCAGAGGGAAGAACATAT	0.532000													11	22					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291018	33291018	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:33291018C>T	ENST00000280979.4	+	13	4169	c.3999C>T	c.(3997-3999)acC>acT	p.T1333T	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1333					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTTCATCTACCAAATCTTTGC	0.428000													9	20					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75684868	75684868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:75684868C>T	ENST00000394947.3	-	15	2880	c.2566G>A	c.(2566-2568)Ggt>Agt	p.G856S	SIN3A_ENST00000360439.4_Missense_Mutation_p.G856S|SIN3A_ENST00000394949.4_Missense_Mutation_p.G856S	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	856					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CCCCCAACACCATTGTGCTTC	0.443000													44	69					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4247761	4247761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:4247761G>A	ENST00000404826.2	+	37	5384	c.5245G>A	c.(5245-5247)Gaa>Aaa	p.E1749K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1729K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1749	Fibronectin type-III 11.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGCCAGAACGAAACGGAGAA	0.552000													25	65					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28489124	28489124	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:28489124G>A	ENST00000569430.1	-	16	1950	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	CLN3_ENST00000565316.1_Silent_p.I360I|CLN3_ENST00000355477.5_Silent_p.I329I|CLN3_ENST00000359984.7_Silent_p.I377I|CLN3_ENST00000535392.1_Silent_p.I299I|CLN3_ENST00000360019.2_Silent_p.I377I|CLN3_ENST00000395653.4_Silent_p.I277I|CLN3_ENST00000357857.9_Silent_p.I323I|CLN3_ENST00000354630.5_Silent_p.I360I|CLN3_ENST00000568224.1_Silent_p.I299I|CLN3_ENST00000333496.9_Silent_p.I353I|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000357806.7_Silent_p.I278I			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	377					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CATACAGAATGATCAGGAAGA	0.607000													29	33					0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48785706	48785706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:48785706C>T	ENST00000595607.1	+	5	582	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	ZNF114_ENST00000600687.1_Missense_Mutation_p.L30F|ZNF114_ENST00000315849.1_Missense_Mutation_p.L30F|ZNF114_ENST00000597695.1_5'UTR			Q8NC26	ZN114_HUMAN	zinc finger protein 114	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TCAGAGGAATCTCTACAGAGA	0.512000													58	90					0	0	1	0	0
RP11-125O5.2	0	broad.mit.edu	37	12	21229480	21229480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:21229480G>A	ENST00000590779.1	+	3	203	c.203G>A	c.(202-204)gGa>gAa	p.G68E	SLCO1B7_ENST00000421593.2_Silent_p.R567R|LST3_ENST00000381541.3_Silent_p.R614R|LST3_ENST00000540229.1_Silent_p.R675R|SLCO1B7_ENST00000554957.1_Silent_p.R614R|SLCO1B3_ENST00000553473.1_Silent_p.R675R																							GGGCTTGTAGGATATATAATT	0.348000													58	87					0	0	1	0	0
TRBV28	28559	broad.mit.edu	37	7	142428703	142428703	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142428703G>A	ENST00000390400.2	+	0	83																											TCGTAGATGTGAAAGTAACCC	0.428000													9	13					0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58893163	58893163	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:58893163C>T	ENST00000343597.3	+	4	1784	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	FAM111B_ENST00000529618.1_Silent_p.S501S|FAM111B_ENST00000411426.1_Silent_p.S501S	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	531							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ATTGGTTTTCCATTGAGCCAT	0.388000													68	50					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842527	123842527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:123842527C>T	ENST00000369005.1	+	4	852	c.512C>T	c.(511-513)cCc>cTc	p.P171L	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P171L|TACC2_ENST00000515603.1_Missense_Mutation_p.P171L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.P171L|TACC2_ENST00000334433.3_Missense_Mutation_p.P171L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	171						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCTGCCGTCCCCAGTGCTGGA	0.592000													13	26					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160171068	160171068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:160171068G>A	ENST00000368079.3	+	11	1350	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	CASQ1_ENST00000467691.1_Missense_Mutation_p.E86K|CASQ1_ENST00000368078.3_Missense_Mutation_p.E365K	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	365	Asp-rich.					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGACGATGAGGAGGACCTGCC	0.552000													9	17					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16496008	16496008	+	Silent	SNP	A	A	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:16496008A>G	ENST00000455140.2	-	21	2245	c.2179T>C	c.(2179-2181)Tta>Cta	p.L727L	EPS15L1_ENST00000248070.6_Silent_p.L727L|EPS15L1_ENST00000594975.1_Silent_p.L729L|EPS15L1_ENST00000535753.2_Silent_p.L727L	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	727	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	p.L727I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AAGGGATCTAAGGTTCCAAAG	0.542000													44	56					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32202147	32202147	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:32202147C>T	ENST00000400246.1	+	18	1399	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	DEPDC5_ENST00000382112.3_Silent_p.F419F|DEPDC5_ENST00000400248.1_Silent_p.F419F|DEPDC5_ENST00000535622.1_Silent_p.F419F|DEPDC5_ENST00000400249.2_Silent_p.F419F|DEPDC5_ENST00000266091.3_Silent_p.F419F|DEPDC5_ENST00000382111.2_Silent_p.F419F|DEPDC5_ENST00000382105.2_Silent_p.F419F|DEPDC5_ENST00000400242.3_Silent_p.F419F|DEPDC5_ENST00000536766.1_Silent_p.F391F			O75140	DEPD5_HUMAN	DEP domain containing 5	419					intracellular signal transduction			p.F415fs*35(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTAATAGTTTCACCCCACGAA	0.358000													13	25					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039096	11039096	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:11039096C>T	ENST00000470054.1	-	0	1107									B melanoma antigen family, member 2															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)		TTCCTTTTCTCCTTGTAGCCT	0.398000													14	269					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231343	21231343	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:21231343G>A	ENST00000233242.1	-	26	8524	c.8397C>T	c.(8395-8397)tcC>tcT	p.S2799S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2799					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTCTAATTTGGACTCTCCTT	0.438000													22	33					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848121	166848121	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:166848121C>T	ENST00000423058.2	-	26	5681	c.5664G>A	c.(5662-5664)caG>caA	p.Q1888Q	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Silent_p.Q1888Q|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.Q1877Q|SCN1A_ENST00000409050.1_Silent_p.Q1860Q	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1888						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q1888H(1)|p.Q1877H(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCTCTTCCATCTGTATTCGTA	0.438000													16	40					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800586	27800586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:27800586C>T	ENST00000408964.2	+	1	1198	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	383										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCCAAACCACAGCATCATGT	0.453000													11	19					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77693930	77693930	+	Missense_Mutation	SNP	C	C	T	rs11915149		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:77693930C>T	ENST00000461745.1	+	25	4910	c.4010C>T	c.(4009-4011)tCt>tTt	p.S1337F	ROBO2_ENST00000487694.3_Missense_Mutation_p.S1353F|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1398F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1337					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACAGCTTCTTCTAAGGGATCC	0.517000													41	28					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18715676	18715676	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:18715676G>A	ENST00000433979.1	+	26	3623	c.3507G>A	c.(3505-3507)ttG>ttA	p.L1169L	PIK3C2G_ENST00000538779.1_Silent_p.L1210L|PIK3C2G_ENST00000266497.5_Silent_p.L1169L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1169	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGTTAAATTGAATAACTTGA	0.383000													4	6					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124896750	124896750	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:124896750A>C	ENST00000423114.2	-	5	545	c.546T>G	c.(544-546)aaT>aaG	p.N182K	SLC12A8_ENST00000393469.4_Missense_Mutation_p.N153K|SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.N153K			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	153					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CAGCCCAGATATTCCCGAGGC	0.532000													36	37					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44468292	44468292	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:44468292G>A	ENST00000372310.3	-	7	915	c.750C>T	c.(748-750)ccC>ccT	p.P250P	SLC6A9_ENST00000360584.2_Silent_p.P323P|SLC6A9_ENST00000357730.2_Silent_p.P269P|SLC6A9_ENST00000372307.3_Silent_p.P185P|SLC6A9_ENST00000537678.1_Silent_p.P185P|SLC6A9_ENST00000372306.3_Silent_p.P250P|SLC6A9_ENST00000475075.2_Silent_p.P139P	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	323						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCACCACGTAGGGGAACGTGG	0.607000													52	53					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040657	107040657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:107040657C>T	ENST00000409886.3	-	20	3853	c.3766G>A	c.(3766-3768)Gaa>Aaa	p.E1256K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1256K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1256					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AAAGCATCTTCCCTTAAATCA	0.448000													70	133					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138676636	138676636	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:138676636C>T	ENST00000298480.5	+	27	3131	c.3057C>T	c.(3055-3057)atC>atT	p.I1019I	KCNT1_ENST00000486577.2_Silent_p.I978I|KCNT1_ENST00000491806.2_Silent_p.I986I|KCNT1_ENST00000371757.2_Silent_p.I1019I|KCNT1_ENST00000490355.2_Silent_p.I998I|KCNT1_ENST00000263604.3_Silent_p.I1000I|KCNT1_ENST00000488444.2_Silent_p.I1000I|KCNT1_ENST00000487664.1_Silent_p.I974I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1019						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACCTGTGGATCCGCACGTACG	0.632000													25	36					0	0	1	0	0
SSR1	6745	broad.mit.edu	37	6	7301714	7301714	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:7301714G>A	ENST00000244763.4	-	4	458	c.372C>T	c.(370-372)ttC>ttT	p.F124F	SSR1_ENST00000474597.1_Silent_p.F124F|SSR1_ENST00000397511.2_Silent_p.F124F|SSR1_ENST00000479365.1_Silent_p.F124F|SSR1_ENST00000534851.1_Silent_p.F97F|SSR1_ENST00000489567.1_Intron|SSR1_ENST00000488834.1_5'UTR|SSR1_ENST00000462112.1_Silent_p.F124F	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	124					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					GAGGATAACGGAATGAGGCAT	0.413000													56	62					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67416106	67416106	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:67416106G>A	ENST00000329956.6	+	13	2020	c.2001G>A	c.(1999-2001)ctG>ctA	p.L667L	LRRC36_ENST00000541146.1_Silent_p.L139L|LRRC36_ENST00000435835.3_Silent_p.L442L|LRRC36_ENST00000563189.1_Silent_p.L546L|LRRC36_ENST00000290940.7_3'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	667										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTGCCCAGCTGAAAAAGCTGG	0.473000													14	24					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26484597	26484597	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:26484597T>G	ENST00000256737.3	+	4	1186	c.334T>G	c.(334-336)Tac>Gac	p.Y112D	ANO3_ENST00000537978.1_Missense_Mutation_p.Y96D|ANO3_ENST00000525139.1_Missense_Mutation_p.Y96D|ANO3_ENST00000531646.1_Missense_Mutation_p.Y112D	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	112						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						AGATAAGGATTACACGGATGA	0.308000													5	13					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769157	31769157	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:31769157C>T	ENST00000240587.4	-	2	1869	c.1542G>A	c.(1540-1542)gaG>gaA	p.E514E		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	514					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			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)					CCTTGGGACTCTCTTCTAAGT	0.483000													55	99					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642780	127642780	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:127642780G>A	ENST00000405109.1	+	2	1343	c.876G>A	c.(874-876)agG>agA	p.R292R	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Silent_p.R292R|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	292										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CAAGACATAGGAGCTATGGGG	0.448000													11	38					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925690	55925690	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:55925690G>A	ENST00000244728.5	-	26	2748	c.2352_splice	c.e26+1	p.P784_splice	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Splice_Site_p.P184_splice|COL21A1_ENST00000370819.1_Splice_Site_p.P781_splice|COL21A1_ENST00000535941.1_Splice_Site_p.P784_splice	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	784	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AATACATACGGGCTTCCCATC	0.483000													3	10					0	0	1	0	0
ANGPT2	285	broad.mit.edu	37	8	6378862	6378862	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:6378862C>T	ENST00000325203.5	-	4	1110	c.636G>A	c.(634-636)gaG>gaA	p.E212E	MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Silent_p.E160E|ANGPT2_ENST00000415216.1_Silent_p.E212E|ANGPT2_ENST00000523120.1_Silent_p.E212E			O15123	ANGP2_HUMAN	angiopoietin 2	212					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GCTGATCTTTCTCTTCTTTTA	0.353000													12	56					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14861741	14861741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:14861741C>T	ENST00000285046.5	+	1	1273	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L	FGD5_ENST00000543601.1_Missense_Mutation_p.P147L	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	388					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						GAGGAGAACCCCATGGTGGGG	0.612000													17	50					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64488725	64488725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:64488725C>T	ENST00000358025.3	+	37	5733	c.5503C>T	c.(5503-5505)Cac>Tac	p.H1835Y	SYNE2_ENST00000554584.1_Missense_Mutation_p.H1835Y|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.H1835Y	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1835					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTGCAAGATCACTTTTCTAA	0.323000													21	48					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24784836	24784836	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:24784836C>T	ENST00000533227.1	+	5	407	c.120C>T	c.(118-120)atC>atT	p.I40I	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000336930.6_Silent_p.I126I	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	126						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCAAAATGATCCGAGACCTCC	0.294000													17	21					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	670581	670581	+	Silent	SNP	A	A	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:670581A>C	ENST00000266383.5	+	20	2974	c.2961A>C	c.(2959-2961)cgA>cgC	p.R987R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	987						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATTCCAAGCGAGGCATGTGGA	0.617000													13	17					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36330225	36330225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:36330225C>T	ENST00000378910.5	-	22	3022	c.3023G>A	c.(3022-3024)aGa>aAa	p.R1008K	NPHS1_ENST00000353632.6_Missense_Mutation_p.R1008K	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1008	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACCCTGTATCTTGTAGAAGG	0.597000													34	49					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77297636	77297636	+	Missense_Mutation	SNP	G	G	A	rs138111283	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:77297636G>A	ENST00000393774.3	+	3	432	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	C14orf166B_ENST00000450042.2_Missense_Mutation_p.R86Q|C14orf166B_ENST00000460005.1_3'UTR	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	103										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TACTTCATTCGGAACATGGAG	0.537000													21	38					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60563057	60563057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:60563057C>T	ENST00000400316.4	+	6	2502	c.721C>T	c.(721-723)Cct>Tct	p.P241S	PHLPP1_ENST00000262719.5_Missense_Mutation_p.P753S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	753					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CCAATCCCTTCCTGCTGAGTT	0.343000													37	153					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090078	9090078	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9090078C>T	ENST00000397910.4	-	1	1940	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	579	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G579G(1)		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						CAAGCCAAATCCCTTTTGTGG	0.532000													10	17					0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1041920	1041920	+	Missense_Mutation	SNP	C	C	T	rs141121079		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:1041920C>T	ENST00000360803.4	+	3	353	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	GTPBP4_ENST00000491635.1_Intron|GTPBP4_ENST00000545048.1_Missense_Mutation_p.H44Y|GTPBP4_ENST00000538293.1_Intron	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	91					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.H91Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CGACAAGGATCATTACAAGTT	0.378000													25	29					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125082829	125082829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:125082829G>A	ENST00000522917.1	+	30	4162	c.3956G>A	c.(3955-3957)gGa>gAa	p.G1319E	FER1L6_ENST00000399018.1_Missense_Mutation_p.G1319E|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1319						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CGAGTCATAGGAAAATTTAAG	0.408000													26	87					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6050615	6050615	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:6050615T>G	ENST00000409021.3	-	16	2446	c.1997A>C	c.(1996-1998)cAa>cCa	p.Q666P	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.Q481P	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	439					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTTCCAGCTTGGATTATTGC	0.468000													12	54					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185392	127185392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:127185392G>A	ENST00000371124.3	-	1	990	c.794C>T	c.(793-795)cCt>cTt	p.P265L		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	265						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CAGCTGGTCAGGTGCAAAAAG	0.512000													46	21					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854524	12854524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:12854524G>A	ENST00000332296.7	+	3	851	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	250										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGATAATGAACTCCAAGG	0.443000													70	41					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058278	11058278	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:11058278C>T	ENST00000470054.1	-	0	369									B melanoma antigen family, member 2															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)		CATTTCTCTTCACAGCATTTG	0.408000													7	163					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38463945	38463945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:38463945G>A	ENST00000322350.5	+	22	3233	c.2887G>A	c.(2887-2889)Gaa>Aaa	p.E963K	EGFLAM_ENST00000514476.1_Missense_Mutation_p.E106K|EGFLAM_ENST00000506135.1_Missense_Mutation_p.E106K|EGFLAM_ENST00000397210.3_Missense_Mutation_p.E106K|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000354891.3_Missense_Mutation_p.E971K|EGFLAM_ENST00000397202.2_Missense_Mutation_p.E329K|EGFLAM_ENST00000336740.6_Missense_Mutation_p.E729K	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	971	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse		p.E963K(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGGAATGAAGGAAATTGCTCT	0.537000													48	84					0	0	1	0	0
TRAV13-2	28670	broad.mit.edu	37	14	22386389	22386389	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:22386389G>A	ENST00000390439.2	+	0	27																											TCTTATGGCTGGAGATTGCAG	0.413000													14	19					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903156	22903156	+	Silent	SNP	G	G	A	rs55952392		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:22903156G>A	ENST00000166244.3	+	3	678	c.606G>A	c.(604-606)aaG>aaA	p.K202K	EPHA8_ENST00000538803.1_Silent_p.K202K|EPHA8_ENST00000374644.4_Silent_p.K202K	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	202	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTACTATAAGAAGTGCCCTG	0.642000													13	12					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152374874	152374874	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:152374874C>T	ENST00000427231.2	-	156	22960	c.22758G>A	c.(22756-22758)ctG>ctA	p.L7586L	NEB_ENST00000409198.1_Silent_p.L5885L|NEB_ENST00000397345.3_Silent_p.L7586L|NEB_ENST00000603639.1_Silent_p.L7586L|NEB_ENST00000604864.1_Silent_p.L7586L|NEB_ENST00000172853.10_Silent_p.L5885L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5885					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAAGCTGCTCCAGATTATCGG	0.453000													65	107					0	0	1	0	0
CMTM2	146225	broad.mit.edu	37	16	66622018	66622018	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:66622018A>G	ENST00000268595.2	+	4	894	c.743A>G	c.(742-744)aAa>aGa	p.K248R	CMTM2_ENST00000379486.2_Missense_Mutation_p.K195R	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	248					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		AAGGGAAAGAAATGACTTGGA	0.512000													12	27					0	0	1	0	0
IGLJ4	28830	broad.mit.edu	37	22	23252767	23252767	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:23252767G>A	ENST00000390326.2	+	0	24																											GAACCCAGCTGATCATTTTAG	0.483000													11	29					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726701	12726701	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:12726701C>T	ENST00000376221.1	+	4	1179	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	393						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TCCCATGTTCCCTGAAGATTG	0.483000													37	19					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76623861	76623861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:76623861C>T	ENST00000369981.3	+	34	3803	c.3524C>T	c.(3523-3525)cCa>cTa	p.P1175L	MYO6_ENST00000369975.1_Missense_Mutation_p.P1142L|MYO6_ENST00000369985.4_Missense_Mutation_p.P1151L|MYO6_ENST00000369977.3_Missense_Mutation_p.P1174L			Q9UM54	MYO6_HUMAN	myosin VI	1183					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTCCGCATCCCATTCATCCGC	0.512000													95	38					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903317	5903317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:5903317G>A	ENST00000378961.4	+	4	731	c.527G>A	c.(526-528)gGg>gAg	p.G176E		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	176						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TATCAAAAAGGGGAGCGAGGG	0.488000													31	33					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665886	20665886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:20665886C>T	ENST00000357366.3	+	1	392	c.392C>T	c.(391-393)tCg>tTg	p.S131L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AAGATCATCTCGTTCTCTGGC	0.483000													11	16					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24193032	24193032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:24193032C>T	ENST00000265769.4	+	14	1555	c.1445C>T	c.(1444-1446)tCt>tTt	p.S482F	RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.S482F|ADAM28_ENST00000397649.3_Missense_Mutation_p.S229F|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.S249F|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	482	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.S482F(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AATGGTAAATCTGGTAATTGT	0.473000													23	31					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41012789	41012789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:41012789C>T	ENST00000399564.4	-	30	3481	c.3031G>A	c.(3031-3033)Gaa>Aaa	p.E1011K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E566K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCCAGCATTTCCTCTAGGAAC	0.458000													46	44					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313845	41313845	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:41313845G>A	ENST00000377801.3	-	3	914	c.840C>T	c.(838-840)gtC>gtT	p.V280V	PLCXD3_ENST00000328457.3_Silent_p.V280V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	280					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTGCGTGCGGACCCACTGCA	0.428000													7	24					0	0	1	0	0
ZBED2	79413	broad.mit.edu	37	3	111312560	111312560	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:111312560C>T	ENST00000317012.4	-	2	1497	c.489G>A	c.(487-489)agG>agA	p.R163R	CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	163							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						CTGCCCTTTCCCTCCTAAGCA	0.602000													74	82					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52964490	52964490	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:52964490T>C	ENST00000549343.1	-	5	1009	c.971A>G	c.(970-972)aAg>aGg	p.K324R	KRT74_ENST00000305620.2_Missense_Mutation_p.K324R			Q7RTS7	K2C74_HUMAN	keratin 74	324	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGCCTTGCTCTTCAGGGCGAT	0.602000													29	38					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039168	11039168	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:11039168G>A	ENST00000470054.1	-	0	1035									B melanoma antigen family, member 2															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)		GGACACTAAGGTTTCTAGTGG	0.408000													14	168					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634325	70634325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:70634325C>T	ENST00000381269.2	-	2	1568	c.815G>A	c.(814-816)gGa>gAa	p.G272E	SLC8A3_ENST00000534137.1_Missense_Mutation_p.G272E|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G272E|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G272E|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G272E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	272	Calmodulin-binding (By similarity).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TATGATAATTCCTCGGTGTTT	0.468000													17	18					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119428038	119428038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:119428038G>A	ENST00000369429.3	-	8	1135	c.1126C>T	c.(1126-1128)Cat>Tat	p.H376Y	TBX15_ENST00000207157.3_Missense_Mutation_p.H270Y			Q96SF7	TBX15_HUMAN	T-box 15	376						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGGCCAGATGAAAAGTTGGA	0.527000													12	24					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377447	113377447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:113377447G>A	ENST00000316407.4	-	7	3492	c.3082C>T	c.(3082-3084)Cat>Tat	p.H1028Y	KIAA2018_ENST00000478658.1_Missense_Mutation_p.H1028Y|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1028					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAGTCAGGATGATCCATCTGA	0.353000													34	83					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65246619	65246619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:65246619C>T	ENST00000389722.3	-	20	4350	c.4297G>A	c.(4297-4299)Gag>Aag	p.E1433K	SPTB_ENST00000389721.5_Missense_Mutation_p.E1433K|SPTB_ENST00000556626.1_Missense_Mutation_p.E1433K|SPTB_ENST00000542895.1_Missense_Mutation_p.E1433K|SPTB_ENST00000389720.3_Missense_Mutation_p.E1433K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1433					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCAGCTCCTCTTTTCGCACA	0.577000													38	108					0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109047786	109047786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:109047786G>A	ENST00000335658.6	-	6	883	c.829C>T	c.(829-831)Cca>Tca	p.P277S		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	277						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGCGGGGGTGGAAAATTGGAG	0.473000													31	29					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142222460	142222460	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:142222460G>A	ENST00000519067.1	-	7	2287	c.1984C>T	c.(1984-1986)Ctg>Ttg	p.L662L	SLC45A4_ENST00000517878.1_Silent_p.L713L|SLC45A4_ENST00000433583.2_Silent_p.L655L|SLC45A4_ENST00000024061.3_Silent_p.L662L			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	713					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TAGATCACCAGGAATGTGGCC	0.642000													5	27					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604280	140604280	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140604280C>T	ENST00000239449.4	+	1	1203	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	PCDHB14_ENST00000515856.2_Silent_p.F248F	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		401	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAACTTTTTCACTCTAGTTT	0.458000													53	118					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48438697	48438697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:48438697G>A	ENST00000224605.2	-	1	279	c.14C>T	c.(13-15)cCc>cTc	p.P5L		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	5					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGTCCGAGCGGGGACATGAGC	0.716000													5	22					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149228	34149228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:34149228C>T	ENST00000346193.3	-	1	1219	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	390										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGGAGGCTCCGGGCTGAGA	0.622000													29	13					0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45987079	45987079	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:45987079G>A	ENST00000257821.4	-	9	1406	c.783C>T	c.(781-783)atC>atT	p.I261I	PHF21A_ENST00000418153.2_Silent_p.I260I|PHF21A_ENST00000323180.6_Silent_p.I261I	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	260					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CGGGCCTCTGGATAAGCTGAG	0.562000											OREG0020936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	10					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221617	5221617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:5221617G>A	ENST00000321255.1	-	1	313	c.314C>T	c.(313-315)tCc>tTc	p.S105F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	105					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)		GGCAATGCAGGAATCCAAGCT	0.532000													17	33					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135103366	135103366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:135103366G>A	ENST00000368563.2	-	9	1678	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	TUBGCP2_ENST00000252936.3_Missense_Mutation_p.S441F|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.S311F|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.S469F|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.S34F	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	441					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTGCAGGAAGGACGGGATCTG	0.617000													12	30					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72408111	72408111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:72408111G>A	ENST00000359373.5	-	22	3934	c.3083C>T	c.(3082-3084)tCc>tTc	p.S1028F	ARAP1_ENST00000455638.2_Missense_Mutation_p.S1028F|ARAP1_ENST00000429686.1_Missense_Mutation_p.S722F|ARAP1_ENST00000334211.8_Missense_Mutation_p.S783F|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393609.3_Missense_Mutation_p.S1028F|ARAP1_ENST00000393605.3_Missense_Mutation_p.S788F|ARAP1_ENST00000426523.1_Missense_Mutation_p.S783F			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1028	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GAGCGCCGAGGAAACATCATC	0.667000													41	36					0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086690	53086690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:53086690C>T	ENST00000540331.1	+	5	1801	c.1576C>T	c.(1576-1578)Cat>Tat	p.H526Y	ZNF701_ENST00000391785.3_Missense_Mutation_p.H460Y|ZNF701_ENST00000301093.2_Missense_Mutation_p.H526Y|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TCATAGACTTCATACTGGAAA	0.358000													21	29					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141970	133141970	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:133141970G>A	ENST00000388996.4	-	15	2578	c.2158C>T	c.(2158-2160)Ctg>Ttg	p.L720L	KCNQ3_ENST00000521134.1_Silent_p.L600L|KCNQ3_ENST00000519445.1_Silent_p.L708L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	720					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCTCGGGGCAGGTTCACAGGG	0.562000													29	30					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228538619	228538619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:228538619G>A	ENST00000570156.2	+	88	21339	c.21265G>A	c.(21265-21267)Gaa>Aaa	p.E7089K	OBSCN_ENST00000422127.1_Missense_Mutation_p.E6132K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E6132K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E3251K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E3766K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6132	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCACCATCGAAGGCGCCCC	0.677000													32	28					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39041266	39041266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:39041266C>T	ENST00000167588.3	-	1	213	c.172G>A	c.(172-174)Gat>Aat	p.D58N		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	58	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CCTGTGAGATCGCTCCCATAG	0.592000													62	54					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298474	107298474	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:107298474G>A	ENST00000374781.2	-	1	663	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTTCACATGCGAAATGATTGA	0.428000													47	65					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700756	136700756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:136700756G>A	ENST00000445907.2	+	3	1672	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.E382K|CHRM2_ENST00000320658.5_Missense_Mutation_p.E382K|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.E382K|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.E382K|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.E382K|AC009264.1_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	382					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCCTTCCCGGGAAAAGAAAGT	0.458000													7	13					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143021572	143021572	+	Silent	SNP	G	G	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:143021572G>T	ENST00000343257.2	+	7	927	c.840G>T	c.(838-840)ggG>ggT	p.G280G	CLCN1_ENST00000495612.1_Intron	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	280					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTTGTTTTGGGACACCACTTG	0.527000													20	40					7.45023e-12	7.48561e-12	1	1	0
ARHGAP27	201176	broad.mit.edu	37	17	43473622	43473622	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:43473622G>A	ENST00000532038.1	-	13	1671	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	ARHGAP27_ENST00000376922.2_Silent_p.I393I|ARHGAP27_ENST00000428638.1_Silent_p.I734I|ARHGAP27_ENST00000455881.1_Silent_p.I393I|ARHGAP27_ENST00000532891.2_Silent_p.I712I|ARHGAP27_ENST00000442348.1_Silent_p.I707I|ARHGAP27_ENST00000528384.1_Silent_p.I366I			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	734	PH.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GGTTTCCACTGATGCGGTACA	0.652000													27	26					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41571226	41571226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:41571226C>T	ENST00000262415.3	+	8	1256	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	DHX8_ENST00000540306.1_Missense_Mutation_p.S395F	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	395						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACCCGAATCTCTGACCCAGAG	0.522000													29	86					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71895931	71895931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:71895931C>T	ENST00000373545.3	-	6	1045	c.607G>A	c.(607-609)Gga>Aga	p.G203R	PHKA1_ENST00000339490.3_Missense_Mutation_p.G203R|PHKA1_ENST00000373542.4_Missense_Mutation_p.G203R|PHKA1_ENST00000541944.1_Missense_Mutation_p.G203R|PHKA1_ENST00000373539.3_Missense_Mutation_p.G203R			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	203					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTTGCCATTCCAACTGAACTG	0.418000													26	9					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9864158	9864158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:9864158C>T	ENST00000380913.3	+	4	2300	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	737	ASD1.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CAGCCACCCTCATCTACAAGT	0.622000													9	3					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971592	34971592	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:34971592C>T	ENST00000242315.3	+	2	379	c.297C>T	c.(295-297)ttC>ttT	p.F99F	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Silent_p.F99F	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	99							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CAAGTCGATTCACACCCCCTG	0.622000													97	172					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3029911	3029911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:3029911G>A	ENST00000328890.2	-	1	964	c.935C>T	c.(934-936)tCc>tTc	p.S312F		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CCACTAAGGGGAATGAATTTT	0.423000													45	36					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515406	56515406	+	Silent	SNP	C	C	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:56515406C>A	ENST00000390649.3	+	2	387	c.387C>A	c.(385-387)atC>atA	p.I129I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	129	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCATTAGCATCTTTGAAAACA	0.507000													18	28					8.28177e-16	8.33807e-16	1	1	0
ZC3H4	23211	broad.mit.edu	37	19	47569951	47569951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:47569951G>A	ENST00000253048.5	-	15	3611	c.3574C>T	c.(3574-3576)Cgc>Tgc	p.R1192C	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1192							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCAGACTTGCGGACGAACGGG	0.662000													5	17					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628742	3628742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:3628742C>T	ENST00000325418.4	+	1	1532	c.1513C>T	c.(1513-1515)Cac>Tac	p.H505Y	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	505	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										AATTGCTGATCACACACCCGT	0.448000													35	86					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607771	84607771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:84607771G>A	ENST00000344803.2	+	4	2433	c.2386G>A	c.(2386-2388)Gat>Aat	p.D796N		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TTCAGACAAGGATCTGAGGTC	0.463000													22	64					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160742969	160742969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:160742969G>A	ENST00000263636.4	-	5	902	c.875C>T	c.(874-876)tCa>tTa	p.S292L	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S292L|LY75_ENST00000554112.1_Missense_Mutation_p.S292L|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S292L|LY75_ENST00000553424.1_Missense_Mutation_p.S292L	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTGTGGTCTGACCATTCCCA	0.378000													15	25					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263584	34263584	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:34263584G>A	ENST00000262622.3	+	4	1649	c.891G>A	c.(889-891)cgG>cgA	p.R297R	CHST8_ENST00000434302.1_Silent_p.R297R|CHST8_ENST00000438847.2_Silent_p.R297R	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	297					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ATGCCTCTCGGGAGGCCCTGC	0.647000													15	27					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38712071	38712071	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:38712071C>T	ENST00000308742.4	+	2	496	c.180C>T	c.(178-180)ccC>ccT	p.P60P	ALG10B_ENST00000551464.1_Silent_p.P60P	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	60					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGTGGGATCCCATGATTACTA	0.418000													71	108					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107343	168107343	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:168107343G>A	ENST00000409195.1	+	9	9530	c.9441G>A	c.(9439-9441)aaG>aaA	p.K3147K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K3147K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.K2925K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2972					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						CCCCTAAAAAGGACAGTTATG	0.468000													14	21					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61585212	61585212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:61585212G>A	ENST00000238508.3	+	4	307	c.248G>A	c.(247-249)aGc>aAc	p.S83N		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TTCAACTTGAGCAACTCGGAA	0.338000													21	16					0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198523	91198523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:91198523G>A	ENST00000341233.4	-	6	1166	c.776C>T	c.(775-777)tCc>tTc	p.S259F	SLC16A12_ENST00000371790.4_Missense_Mutation_p.S289F	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	259						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AAACAGAACGGAGACGGCTAA	0.448000													18	25					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109526963	109526963	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:109526963C>T	ENST00000409271.1	-	9	1295	c.852G>A	c.(850-852)aaG>aaA	p.K284K	EDAR_ENST00000376651.1_Silent_p.K284K|EDAR_ENST00000258443.2_Silent_p.K252K			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	252					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CAAATTCATCCTTCTCGGAGA	0.552000													8	15					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543503	28543503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:28543503C>T	ENST00000452236.2	-	3	1596	c.979G>A	c.(979-981)Gag>Aag	p.E327K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	327					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AACTCTTTCTCCATGCGAGTA	0.373000													62	124					0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49919798	49919798	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:49919798C>T	ENST00000553127.1	+	15	1911	c.1398C>T	c.(1396-1398)aaC>aaT	p.N466N	SPATS2_ENST00000552918.1_Silent_p.N466N|SPATS2_ENST00000321898.6_Silent_p.N466N			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	466						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						ACCCCATGAACCAAGGGCGGC	0.498000													20	41					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99514396	99514396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:99514396G>A	ENST00000261037.3	+	5	2031	c.1651G>A	c.(1651-1653)Ggt>Agt	p.G551S	COL8A1_ENST00000273342.4_Missense_Mutation_p.G551S	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	551	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TGGTGCCCTTGGTCCTCAAGG	0.682000													9	5					0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008216	32008216	+	Missense_Mutation	SNP	G	G	A	rs150804717		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:32008216G>A	ENST00000418967.2	+	8	1131	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	CYP21A2_ENST00000435122.2_Missense_Mutation_p.E295K	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	324					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GCTAGACCACGAACTGGGCCC	0.682000													22	51					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142609900	142609900	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142609900G>A	ENST00000265310.1	-	13	1884	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	512					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.F512L(1)		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)					CCTCTGTCTGGAAAATGATAT	0.463000													23	52					0	0	1	0	0
CLDN1	9076	broad.mit.edu	37	3	190030809	190030809	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:190030809G>A	ENST00000295522.3	-	2	508	c.240C>T	c.(238-240)acC>acT	p.T80T		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	80					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		TCAAGGCACGGGTTGCTTGCA	0.448000													61	212					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158064610	158064610	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:158064610C>T	ENST00000368172.1	+	11	1428	c.1416C>T	c.(1414-1416)gcC>gcT	p.A472A	KIRREL_ENST00000368173.3_Silent_p.A674A|KIRREL_ENST00000416935.2_Silent_p.A558A|KIRREL_ENST00000360089.4_Silent_p.A494A|KIRREL_ENST00000359209.6_Silent_p.A658A|KIRREL_ENST00000392272.2_Silent_p.A555A			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	658	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGGCCCTGCCTCTGACTATG	0.652000													31	32					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18750520	18750520	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:18750520G>A	ENST00000396170.1	-	15	2827	c.1563C>T	c.(1561-1563)agC>agT	p.S521S	PTPN5_ENST00000396167.2_Silent_p.S521S|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Silent_p.S553S|PTPN5_ENST00000396166.3_Silent_p.S159S|PTPN5_ENST00000358540.2_Silent_p.S553S|PTPN5_ENST00000477854.1_Silent_p.S357S|PTPN5_ENST00000396168.1_Silent_p.S529S	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	553	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TTTCGTAGAGGCTCATGACGT	0.617000													35	105					0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7350834	7350834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:7350834C>T	ENST00000306071.2	+	6	542	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	CHRNB1_ENST00000536404.2_Missense_Mutation_p.P87S|CHRNB1_ENST00000576360.1_Missense_Mutation_p.P87S	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	159					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				CACCTACTTCCCCTTCGACTG	0.587000													18	86					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991690	39991690	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:39991690C>T	ENST00000332312.3	-	4	711	c.519G>A	c.(517-519)agG>agA	p.R173R		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	173						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTGGGCCTTTCCTTCCTGGGA	0.577000													6	6					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122622429	122622429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:122622429C>T	ENST00000263461.6	+	5	955	c.709C>T	c.(709-711)Cct>Tct	p.P237S		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	237						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TCAAGAGAAACCTAGGTAAGT	0.373000													17	40					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977272	46977272	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:46977272G>A	ENST00000371253.2	-	11	2114	c.1899C>T	c.(1897-1899)tcC>tcT	p.S633S	GPR110_ENST00000283297.5_Silent_p.S436S|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	633					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAATCAAGAGGGACAGGGCTA	0.458000													16	32					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58575454	58575454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:58575454G>A	ENST00000317147.5	-	34	5083	c.4751C>T	c.(4750-4752)cCt>cTt	p.P1584L	CNOT1_ENST00000245138.4_Missense_Mutation_p.P435L|CNOT1_ENST00000569240.1_Missense_Mutation_p.P1579L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1584					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTCATTTGTAGGTAAGAAGCC	0.393000													37	59					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535210	96535210	+	Missense_Mutation	SNP	G	G	A	rs72552267	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:96535210G>A	ENST00000371321.3	+	3	477	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	132			R -> Q (in allele CYP2C19*6; loss of activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATGACGCTGCGGAATTTTGGG	0.512000													35	49					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32023880	32023880	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:32023880G>A	ENST00000375244.3	-	24	8416	c.8215C>T	c.(8215-8217)Ctg>Ttg	p.L2739L	TNXB_ENST00000375247.2_Silent_p.L2739L			P22105	TENX_HUMAN	tenascin XB	2797	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCTCCCCCAGGAGCGGCTCC	0.627000													54	65					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177250589	177250589	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:177250589C>T	ENST00000361539.4	+	8	2589	c.2277C>T	c.(2275-2277)atC>atT	p.I759I	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		759						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGGGCAGGATCCAGTCCTCCC	0.557000													52	41					0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766497	27766497	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:27766497C>T	ENST00000451261.2	+	5	1884	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GGCACATCTTCTTCTGGGAGA	0.458000													3	2					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990658	63990658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:63990658C>T	ENST00000370657.4	-	4	831	c.798G>A	c.(796-798)atG>atA	p.M266I	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	266					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AAGAGATTTCCATCTGACCAG	0.438000													21	37					0	0	1	0	0
MAD2L1	4085	broad.mit.edu	37	4	120981287	120981287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:120981287G>A	ENST00000296509.5	-	5	943	c.604C>T	c.(604-606)Cct>Tct	p.P202S		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	202	Required for assuming the closed conformation and for interaction with CDC20.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TCATTGACAGGAATTTTGTAG	0.353000													27	94					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220396518	220396518	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:220396518G>A	ENST00000358078.4	+	2	1016	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Silent_p.A334A			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	334						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CCTTCAACGCGGACCCGCGGA	0.627000													31	57					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90000254	90000254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:90000254C>T	ENST00000405460.2	+	36	8431	c.8335C>T	c.(8335-8337)Cct>Tct	p.P2779S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2779	Calx-beta 19.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACAACATTCCTGAGGAGAA	0.328000													3	7					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286782	55286782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:55286782G>A	ENST00000336077.6	+	4	576	c.536G>A	c.(535-537)gGa>gAa	p.G179E	KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.G179E|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	179	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AAGGTCAACGGAACATTCCAG	0.577000													48	101					0	0	1	0	0
HM13	81502	broad.mit.edu	37	20	30154057	30154057	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:30154057C>T	ENST00000335574.5	+	11	1117	c.993C>T	c.(991-993)gtC>gtT	p.V331V	HM13_ENST00000340852.5_Silent_p.V331V|HM13_ENST00000398174.3_Silent_p.V331V|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000376127.3_Silent_p.V289V	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	331					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GTTTTCCTGTCCTGGTGGCGC	0.622000													19	54					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7727622	7727622	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:7727622G>A	ENST00000572933.1	+	76	13122	c.11662_splice	c.e76+1	p.G3888_splice	DNAH2_ENST00000389173.2_Splice_Site_p.G3888_splice			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3888	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTGACTCAGGGTTGGTGTCC	0.617000													23	20					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767174	57767174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:57767174C>T	ENST00000371030.2	+	1	1100	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	367						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACAGCCTTTCGGAGCACAGC	0.766000													12	10					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230598	56230598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:56230598C>T	ENST00000279791.1	-	1	279	c.280G>A	c.(280-282)Gga>Aga	p.G94R		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACCAAGCATCCCACATAGGAA	0.493000													48	45					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131487353	131487353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:131487353G>A	ENST00000376682.4	+	1	310	c.55G>A	c.(55-57)Gat>Aat	p.D19N	GPR133_ENST00000261654.5_Intron|GPR133_ENST00000535015.1_Intron			Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	0					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)		ACCTGGGGGCGATCAGCCCCT	0.642000													5	14					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7728083	7728083	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:7728083T>C	ENST00000486284.1	+	10	3012	c.2738T>C	c.(2737-2739)gTt>gCt	p.V913A	GRM7_ENST00000357716.4_Intron|GRM7_ENST00000403881.1_Intron|GRM7_ENST00000389336.4_Intron|GRM7_ENST00000402647.2_Missense_Mutation_p.V913A	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	0					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CAAAAGTCTGTTACTTGGTAC	0.313000													34	26					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135740840	135740840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:135740840C>T	ENST00000392915.1	-	9	3454	c.3335G>A	c.(3334-3336)tGg>tAg	p.W1112*	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR					mitogen-activated protein kinase kinase kinase 19																		AATGATTCTCCAAACTTCCAG	0.428000													33	62					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266155	48266155	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:48266155C>T	ENST00000225964.5	-	42	3165	c.3045_splice	c.e42-1	p.G1016_splice		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1016	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCAGGAGCCCCCTGCAGAGA	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						25	64					0	0	1	0	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22607905	22607905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:22607905C>T	ENST00000602390.1	+	5	377	c.368C>T	c.(367-369)cCt>cTt	p.P123L	COMMD3_ENST00000483684.1_3'UTR|COMMD3-BMI1_ENST00000463409.2_3'UTR|COMMD3_ENST00000376836.3_Silent_p.S162S	NM_001204062.1	NP_001190991.1	P35226	BMI1_HUMAN		0					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										ATTCCCCATCCTATCCAGAGA	0.313000													21	48					0	0	1	0	0
NAGS	162417	broad.mit.edu	37	17	42084744	42084744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:42084744G>A	ENST00000293404.3	+	5	1268	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	384	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	GCGCAGCCTGGACAAGCTGGA	0.667000											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	26					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42331501	42331501	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:42331501C>T	ENST00000217026.4	+	8	1450	c.1323C>T	c.(1321-1323)ccC>ccT	p.P441P	MYBL2_ENST00000396863.4_Silent_p.P417P	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	441						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCCTCACGCCCAAGAGCACAC	0.582000													24	89					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24566965	24566965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:24566965G>A	ENST00000535378.1	-	15	2767	c.2125C>T	c.(2125-2127)Cct>Tct	p.P709S	KIAA0319_ENST00000543707.1_Missense_Mutation_p.P718S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P718S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P673S|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P718S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	718	PKD 4.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GCTCTGGGAGGACTATTATTT	0.383000													72	104					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237982366	237982366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:237982366C>T	ENST00000366574.2	+	101	14781	c.14464C>T	c.(14464-14466)Cgt>Tgt	p.R4822C	RYR2_ENST00000542537.1_Missense_Mutation_p.R4806C|RYR2_ENST00000360064.6_Missense_Mutation_p.R4828C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4822					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)			TGTTGGAGTTCGTGCTGGAGG	0.413000													15	58					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78516398	78516398	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:78516398G>A	ENST00000278550.7	-	15	2580	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGTCCGGGAGGAAGGTTCCGT	0.607000													22	13					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745484	135745484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:135745484C>T	ENST00000375845.3	-	7	988	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	MAP3K19_ENST00000392915.1_Missense_Mutation_p.E337K|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E207K|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TGAGTGATTTCAATTTTGTTA	0.398000													12	26					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149240510	149240510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:149240510C>T	ENST00000255266.5	-	22	2650	c.2531G>A	c.(2530-2532)gGa>gAa	p.G844E		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	844					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCTGGGGTTTCCCCCCGGCTG	0.572000													25	17					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48391659	48391659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:48391659C>T	ENST00000380518.3	-	6	588	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	COL2A1_ENST00000337299.6_Missense_Mutation_p.E73K	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	142			E -> D (in dbSNP:rs34392760).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTCACTTTTTCACCTTTGTCA	0.542000													67	122					0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67235303	67235303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:67235303C>T	ENST00000393997.2	+	9	976	c.919C>T	c.(919-921)Ctt>Ttt	p.L307F	ELMO3_ENST00000477898.1_Missense_Mutation_p.L141F|ELMO3_ENST00000571638.1_3'UTR|ELMO3_ENST00000360833.1_Missense_Mutation_p.L290F	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	254	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCTTGACTATCTTTGGCAGAG	0.607000													58	94					0	0	1	0	0
CLIC2	1193	broad.mit.edu	37	X	154507335	154507335	+	Missense_Mutation	SNP	G	G	A	rs5940668		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:154507335G>A	ENST00000369449.2	-	6	819	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	201	C-terminal.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	p.R201C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAAAGTCACGATATTTCTTG	0.398000													28	9					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98506387	98506387	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:98506387C>T	ENST00000359863.4	+	14	1361	c.1152C>T	c.(1150-1152)caC>caT	p.H384H	TRRAP_ENST00000446306.3_Silent_p.H384H|TRRAP_ENST00000355540.3_Silent_p.H384H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	384					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTCGTGCACCATGTCCGCC	0.662000													2	2					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124228404	124228404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:124228404C>T	ENST00000330342.3	+	10	1359	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	371					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)		CACTCGGATCCGCACCAACAA	0.433000													54	104					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41007838	41007838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:41007838G>A	ENST00000352632.3	+	8	881	c.795G>A	c.(793-795)atG>atA	p.M265I	SPTBN4_ENST00000598249.1_Missense_Mutation_p.M265I|SPTBN4_ENST00000344104.3_Missense_Mutation_p.M265I|SPTBN4_ENST00000595535.1_Missense_Mutation_p.M265I|SPTBN4_ENST00000338932.3_Missense_Mutation_p.M265I			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	265	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGTGAACATGGAGGCTCCAG	0.512000													51	113					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34180370	34180370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:34180370C>T	ENST00000373381.4	-	21	3399	c.3223G>A	c.(3223-3225)Gac>Aac	p.D1075N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1035	Sushi 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCTCCAAGTCGTACTCTGGA	0.592000													13	33					0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46539609	46539609	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:46539609G>A	ENST00000296142.3	+	1	629	c.57G>A	c.(55-57)gtG>gtA	p.V19V		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	19					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TGCGGGAGGTGAAGCCATGGC	0.587000													29	53					0	0	1	0	0
USP18	11274	broad.mit.edu	37	22	18650086	18650086	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:18650086C>T	ENST00000215794.7	+	5	895	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	155					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						AGGACCAGATCACTGATGTGC	0.473000													52	71					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224635	55224635	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:55224635C>T	ENST00000413439.1	+	0	1807																											AGAATCTCATCCGCGTGGCTG	0.577000													16	27					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21698617	21698617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:21698617G>A	ENST00000328843.6	+	30	5342	c.5311G>A	c.(5311-5313)Gaa>Aaa	p.E1771K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E1766K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1771	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAGGCTACGAAACAGCCCT	0.398000									Kartagener syndrome				3	4					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513011	89513011	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:89513011C>T	ENST00000498435.1	-	0	278																											GCCACTGAACCGAGATGGGAC	0.473000													57	160					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176927615	176927615	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:176927615G>A	ENST00000367654.2	-	10	1639	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	ASTN1_ENST00000424564.2_Silent_p.F534F|ASTN1_ENST00000367657.3_Silent_p.F534F|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.F534F			O14525	ASTN1_HUMAN	astrotactin 1	542					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGTGTAGGTGAATCTGCAGG	0.552000													12	7					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588661	140588661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140588661C>T	ENST00000239450.2	+	1	371	c.182C>T	c.(181-183)tCg>tTg	p.S61L	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		61	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGTCTTCGCGGGGGGCT	0.507000													26	103					0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65541250	65541250	+	Silent	SNP	G	G	A	rs151327457		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:65541250G>A	ENST00000356388.4	-	6	831	c.642C>T	c.(640-642)atC>atT	p.I214I	SPRED2_ENST00000443619.2_Silent_p.I211I	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	214	KBD.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	p.I214I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TGATGCGCACGATCTCCTCGT	0.622000													15	22					0	0	1	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090620	22090620	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:22090620C>T	ENST00000542354.1	+	0	292																											GGAGACAGGTCGTTTTTCTTC	0.478000													31	57					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651043	142651043	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142651043C>T	ENST00000355265.2	-	9	1399	c.924_splice	c.e9-1	p.E309_splice	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	309					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGGCCATTTCCTTAGAGGAG	0.537000													15	26					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56569737	56569737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:56569737C>T	ENST00000390649.3	+	14	3431	c.3431C>T	c.(3430-3432)tCg>tTg	p.S1144L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1144						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AAGCTGTGTTCGGCCTTTGCC	0.493000													10	20					0	0	1	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22447209	22447209	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:22447209C>T	ENST00000390443.3	+	0	410																											CCAAGGACTCCAGCTTCTCCT	0.463000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	97					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62758587	62758587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:62758587G>A	ENST00000512091.1	+	9	2237	c.1490G>A	c.(1489-1491)aGc>aAc	p.S497N	LPHN3_ENST00000507625.1_Missense_Mutation_p.S565N|LPHN3_ENST00000507164.1_Missense_Mutation_p.S565N|LPHN3_ENST00000545650.1_Missense_Mutation_p.S497N|LPHN3_ENST00000514996.1_Missense_Mutation_p.S497N|LPHN3_ENST00000509896.1_Missense_Mutation_p.S565N|LPHN3_ENST00000514157.1_Missense_Mutation_p.S497N|LPHN3_ENST00000506746.1_Missense_Mutation_p.S565N|LPHN3_ENST00000506700.1_Missense_Mutation_p.S497N|LPHN3_ENST00000508693.1_Missense_Mutation_p.S565N|LPHN3_ENST00000506720.1_Missense_Mutation_p.S565N|LPHN3_ENST00000504896.1_Missense_Mutation_p.S497N|LPHN3_ENST00000508946.1_Missense_Mutation_p.S497N|LPHN3_ENST00000511324.1_Missense_Mutation_p.S565N|LPHN3_ENST00000514591.1_Missense_Mutation_p.S497N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	497					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						CTCGAAGAGAGCTGTGAGGCT	0.512000													17	14					0	0	1	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80584431	80584431	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:80584431C>T	ENST00000305904.6	+	4	387	c.267C>T	c.(265-267)atC>atT	p.I89I	RP11-109P11.1_ENST00000568275.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000562982.1_Silent_p.I118I|DYNLRB2_ENST00000570222.1_3'UTR|DYNLRB2_ENST00000568035.1_Silent_p.I33I	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	89					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						ATCTTCTGATCGTCATTCAGA	0.353000													37	64					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528249	20528249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:20528249G>A	ENST00000315683.1	+	1	46	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	16			G -> V (in dbSNP:rs45584133).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TATTTTACTAGGATTTTTTGG	0.343000													24	55					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961520	51961520	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:51961520A>C	ENST00000321424.3	-	1	188	c.122T>G	c.(121-123)cTg>cGg	p.L41R	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.L41R|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.L41R	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	41	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATGGACACACAGGCCCTCCTG	0.597000													49	79					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992340	72992340	+	Missense_Mutation	SNP	G	G	A	rs148894513	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:72992340G>A	ENST00000268489.5	-	2	2377	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	569					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGCTTAAACGATTCCTCCTG	0.517000													34	49					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582728	120582728	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:120582728C>T	ENST00000300648.6	-	40	5166	c.5155_splice	c.e40+1	p.Q1718_splice		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1718					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGCCTTACCCTGTGCAGCGC	0.592000													18	40					0	0	1	0	0
PMP22	5376	broad.mit.edu	37	17	15162439	15162439	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:15162439G>A	ENST00000395938.2	-	3	344	c.150C>T	c.(148-150)gtC>gtT	p.V50V	PMP22_ENST00000494511.1_Intron|PMP22_ENST00000426385.3_Silent_p.V50V|PMP22_ENST00000395936.1_Silent_p.V50V|PMP22_ENST00000312280.3_Silent_p.V50V	NM_153321.1	NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	50					peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		AACAGTGGTGGACATTTCCTG	0.498000													17	52					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111948322	111948322	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:111948322G>A	ENST00000377617.3	-	12	2264	c.2103C>T	c.(2101-2103)acC>acT	p.T701T	ATXN2_ENST00000389153.4_Silent_p.T436T|ATXN2_ENST00000550104.1_Silent_p.T701T|ATXN2_ENST00000535949.1_Silent_p.T412T|ATXN2_ENST00000542287.2_Silent_p.T436T	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	701	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GCCCACTGGGGGTATTTCCAA	0.458000													90	197					0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137600659	137600659	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:137600659G>A	ENST00000330387.6	-	3	770	c.419C>T	c.(418-420)cCg>cTg	p.P140L	CREB3L2_ENST00000458726.1_Missense_Mutation_p.P77L|CREB3L2_ENST00000452463.1_Missense_Mutation_p.P140L|CREB3L2_ENST00000456390.1_Missense_Mutation_p.P140L	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	140					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P140L(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGTGACAGACGGAACGAGTCC	0.498000			T	FUS	fibromyxoid sarcoma								19	36					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102709923	102709923	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:102709923G>A	ENST00000299855.5	-	7	1243	c.987C>T	c.(985-987)atC>atT	p.I329I		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	329	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AAAATGAAGAGATCAAATGCA	0.363000													26	63					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234863777	234863777	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:234863777C>T	ENST00000324695.4	+	11	1285	c.1243_splice	c.e11-1	p.A415_splice	TRPM8_ENST00000433712.2_Splice_Site_p.A103_splice|AC005538.5_ENST00000455991.1_RNA	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	415						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTCTCACAGCCTTCAGCACCA	0.473000													15	41					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513506	61513506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:61513506G>A	ENST00000266070.4	-	16	4127	c.3802C>T	c.(3802-3804)Cca>Tca	p.P1268S	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1268S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1268	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTGGTTCTGGAAGAGGGGGC	0.647000													54	144					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725369	106725369	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:106725369C>T	ENST00000390609.2	-	0	261																											CCAGCCCCTTCCCTGGAGCCT	0.582000													85	130					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137697031	137697031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:137697031G>A	ENST00000371817.3	+	41	3643	c.3229G>A	c.(3229-3231)Gaa>Aaa	p.E1077K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1077	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAAAGGCAATGAAGGGCCCCC	0.587000													24	44					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586695	143586695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:143586695G>A	ENST00000507359.2	+	2	1509	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	KCTD16_ENST00000512467.1_Missense_Mutation_p.E140K	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	140						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CAGTGACTTTGAAGATGCCTC	0.527000													27	76					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968963	28968963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:28968963G>A	ENST00000359747.4	+	5	528	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E167K|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	167	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCCAGCATTGAAGAAAATAG	0.403000													9	33					0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11796607	11796607	+	RNA	SNP	T	T	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:11796607T>G	ENST00000344893.3	+	0	2606					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CTTCAGTAGTTCTAAGTACTT	0.393000													31	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046079	9046079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9046079G>A	ENST00000397910.4	-	5	35755	c.35552C>T	c.(35551-35553)tCc>tTc	p.S11851F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11853	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						TGGATGGGTGGAAAGTGGGGC	0.478000													32	60					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120911	38120911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:38120911C>T	ENST00000406386.3	+	7	2603	c.2348C>T	c.(2347-2349)cCc>cTc	p.P783L	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	783					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.P783H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCTCCTCTCCCAATAGAGCC	0.567000													26	49					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150556125	150556125	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:150556125C>T	ENST00000493429.1	+	5	2429	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	AOC1_ENST00000416793.2_Silent_p.I615I|AOC1_ENST00000360937.4_Silent_p.I615I|AOC1_ENST00000467291.1_Silent_p.I615I|AOC1_ENST00000480582.1_3'UTR					amine oxidase, copper containing 1																		AGCAGGCCATCACCTGGGCAA	0.642000													5	9					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38884059	38884059	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:38884059G>A	ENST00000274276.3	+	5	951	c.549G>A	c.(547-549)ggG>ggA	p.G183G	OSMR_ENST00000502536.1_Silent_p.G183G	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	183					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATTTGGAAGGGAAACAGATTC	0.368000													60	107					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904272	55904272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:55904272G>A	ENST00000301529.1	-	1	922	c.923C>T	c.(922-924)cCa>cTa	p.P308L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					GGAGTAACATGGATTTTCCAT	0.313000													17	52					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004679	74004679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:74004679C>T	ENST00000301607.3	-	22	4860	c.4607G>A	c.(4606-4608)cGg>cAg	p.R1536Q	EVPL_ENST00000586740.1_Missense_Mutation_p.R1558Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1536	Central fibrous rod domain.				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						CACGCGGGCCCGCTCATCTTC	0.657000													27	27					0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136385351	136385351	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:136385351G>A	ENST00000339996.3	-	2	296	c.195C>T	c.(193-195)atC>atT	p.I65I	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	65						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						AATACTCCAGGATGTCGTGAC	0.582000													23	53					0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231774973	231774973	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:231774973G>A	ENST00000392040.1	-	2	897	c.705C>T	c.(703-705)ttC>ttT	p.F235F	GPR55_ENST00000392039.2_Silent_p.F235F	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	235					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGGAGACCACGAAGACAGCCA	0.587000													30	40					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062080	170062080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:170062080G>A	ENST00000263816.3	-	41	7909	c.7624C>T	c.(7624-7626)Cgc>Tgc	p.R2542C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2542					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATGGGTACGCGGAAGTTTCCT	0.488000													26	40					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144874250	144874250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:144874250G>A	ENST00000356994.2	-	33	4574	c.4568C>T	c.(4567-4569)tCc>tTc	p.S1523F	SCRIB_ENST00000320476.3_Missense_Mutation_p.S1523F|SCRIB_ENST00000377533.3_Missense_Mutation_p.S1442F	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1523					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCCTTCCTGGGACCTGCTGAG	0.687000													4	19					0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586839	86586839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:86586839G>A	ENST00000376263.3	-	11	1134	c.911C>T	c.(910-912)gCt>gTt	p.A304V	HNRNPK_ENST00000376264.2_Missense_Mutation_p.A304V|HNRNPK_ENST00000376281.4_Missense_Mutation_p.A304V|HNRNPK_ENST00000360384.5_Missense_Mutation_p.A304V|HNRNPK_ENST00000351839.3_Missense_Mutation_p.A304V	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	304	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						AAGATTCCGAGCTCTGCTACC	0.522000													25	61					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202110	39202110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:39202110G>A	ENST00000351578.6	-	2	1143	c.953C>T	c.(952-954)tCt>tTt	p.S318F	FYB_ENST00000540520.1_Missense_Mutation_p.S328F|FYB_ENST00000512982.1_Missense_Mutation_p.S318F|FYB_ENST00000515010.1_Missense_Mutation_p.S318F|FYB_ENST00000505428.1_Missense_Mutation_p.S318F	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	318					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTCAGCTTAGAAGGGGCCTT	0.517000													18	78					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71004057	71004057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:71004057G>A	ENST00000357250.6	-	5	667	c.509C>T	c.(508-510)tCg>tTg	p.S170L	COL9A1_ENST00000370496.3_Missense_Mutation_p.S170L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	170	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGACAAATTCGAAAAGGCTGC	0.428000													63	103					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57528453	57528453	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:57528453G>T	ENST00000351747.2	-	2	325	c.145C>A	c.(145-147)Cag>Aag	p.Q49K	DNAH12_ENST00000311202.6_Missense_Mutation_p.Q49K|DNAH12_ENST00000389536.4_Missense_Mutation_p.Q49K	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	49	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTCTGCTGCTGCTCCTTGGAT	0.363000													23	38					7.26314e-15	7.30755e-15	1	1	0
KIAA1462	57608	broad.mit.edu	37	10	30315630	30315630	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:30315630C>T	ENST00000375377.1	-	3	3548	c.3447G>A	c.(3445-3447)agG>agA	p.R1149R		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1149										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGCCGCACTTCCTCCTGCCAT	0.607000													31	51					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588709	20588709	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:20588709C>T	ENST00000428453.1	-	0	4041																				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						GACATTCTTTCCTGAAAAATA	0.299000													9	57					0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457463	124457463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:124457463G>A	ENST00000329446.4	-	3	825	c.794C>T	c.(793-795)tCa>tTa	p.S265L		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	265										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GGGGAGGAATGATTTGCGATC	0.373000													28	64					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2084115	2084115	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:2084115C>T	ENST00000382203.1	+	17	2654	c.2445C>T	c.(2443-2445)gtC>gtT	p.V815V	SMARCA2_ENST00000357248.2_Silent_p.V815V|SMARCA2_ENST00000349721.2_Silent_p.V815V|SMARCA2_ENST00000382194.1_Silent_p.V815V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	815	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCTCCCTTGTCCCCCAGCTAC	0.373000													10	10					0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213652	3213652	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:3213652C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							CCAAGTTTGTCCTGCTGGGCC	0.542000													61	53					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813184	2813184	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:2813184G>A	ENST00000520002.1	-	65	10479	c.9924C>T	c.(9922-9924)ttC>ttT	p.F3308F	CSMD1_ENST00000602723.1_Silent_p.F3131F|CSMD1_ENST00000602557.1_Silent_p.F3308F|CSMD1_ENST00000400186.3_Silent_p.F3131F|CSMD1_ENST00000542608.1_Silent_p.F3130F|CSMD1_ENST00000537824.1_Silent_p.F3307F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3308	Sushi 28.					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)		CCCCTGCGAGGAAAAAGCCTG	0.507000													25	61					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330336	125330336	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:125330336G>C	ENST00000304865.2	-	1	502	c.421C>G	c.(421-423)Cac>Gac	p.H141D		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGACACAGTGGTGGTGGCTC	0.552000													17	29					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133795684	133795684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:133795684C>T	ENST00000321016.8	-	14	2214	c.1984G>A	c.(1984-1986)Gat>Aat	p.D662N	IGSF9B_ENST00000533871.2_Missense_Mutation_p.D662N			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	662	Fibronectin type-III 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGATGCCATCGTCGAGCAAC	0.597000													21	11					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705156	2705156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:2705156C>T	ENST00000399655.1	+	20	3045	c.2780C>T	c.(2779-2781)tCc>tTc	p.S927F	CACNA1C_ENST00000399591.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S927F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S927F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S952F|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S927F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S927F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S927F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S927F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S927F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	927					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CAGCACACCTCCTTCAGGAAC	0.542000													23	44					0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2279136	2279136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:2279136G>A	ENST00000440306.2	-	2	250	c.215C>T	c.(214-216)cCc>cTc	p.P72L	FTSJ2_ENST00000242257.8_Missense_Mutation_p.P72L|FTSJ2_ENST00000486040.1_5'UTR			Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	72					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CCGAAGGCCGGGCCGCAGAAT	0.637000													13	11					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10941911	10941911	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:10941911G>A	ENST00000298232.7	-	13	1105	c.738C>T	c.(736-738)atC>atT	p.I246I	TPTE_ENST00000361285.4_Silent_p.I264I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.I226I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	264	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)		CCCTTACCTTGATTGGATTTC	0.313000													37	98					0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96730172	96730172	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:96730172C>T	ENST00000216629.6	+	3	759	c.153C>T	c.(151-153)ggC>ggT	p.G51G	RP11-404P21.3_ENST00000553638.1_RNA|RP11-404P21.8_ENST00000555847.1_3'UTR|RP11-404P21.8_ENST00000553811.1_3'UTR|BDKRB1_ENST00000553356.1_Silent_p.G51G	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	51					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GTTTCTTCGGCCTCCTAGGGA	0.547000													14	30					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111890219	111890219	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:111890219C>T	ENST00000277900.8	+	13	2072	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	ADD3_ENST00000356080.4_Silent_p.I569I|ADD3_ENST00000360162.3_Silent_p.I569I	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	569						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		AGAGGACAATCGAACGTAAAC	0.403000													27	77					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699839	17699839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:17699839C>T	ENST00000353383.1	+	3	4046	c.3577C>T	c.(3577-3579)Ccc>Tcc	p.P1193S	RAI1_ENST00000261641.6_Missense_Mutation_p.P1193S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1193						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTCCAGCAGCCCCCAGAAGGA	0.662000													39	36					0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36257607	36257607	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:36257607C>G	ENST00000296604.3	-	9	1206	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q	RANBP3L_ENST00000502994.1_Missense_Mutation_p.E266Q|RANBP3L_ENST00000515759.1_Missense_Mutation_p.E241Q	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	241					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AATGGTTTTTCCTTGGCATAT	0.313000													45	91					0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57114888	57114888	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:57114888G>A	ENST00000263314.2	+	4	361		c.e4-1			NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3						positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TCTGCCCACAGAGTGAGGAGA	0.622000													8	2					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873271	173873271	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:173873271C>T	ENST00000506823.1	+	10	1890	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	GALNTL6_ENST00000508122.1_Silent_p.S394S	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	411						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GGCATCTCTCCACGGGGGACA	0.557000													21	60					0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15591462	15591462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:15591462G>A	ENST00000380701.3	+	5	779	c.451G>A	c.(451-453)Gat>Aat	p.D151N	CCDC171_ENST00000535968.1_Missense_Mutation_p.D151N|CCDC171_ENST00000297641.3_Missense_Mutation_p.D151N	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	151	Glu-rich.																ATTTGAACATGATTTGGAGGA	0.333000													26	15					0	0	1	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223850	142223850	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142223850G>A	ENST00000390367.3	-	0	333																											ATACATGGCCGAGTCCCCAAG	0.522000													9	70					0	0	1	0	0
RXRB	6257	broad.mit.edu	37	6	33168121	33168121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:33168121G>A	ENST00000374680.3	-	1	344	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	RXRB_ENST00000413614.2_Silent_p.I31I|RXRB_ENST00000374685.4_Missense_Mutation_p.P45S|RXRB_ENST00000544186.1_Intron	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	45	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	gccgctgcGGGATCCAGCCAG	0.741000													8	8					0	0	1	0	0
ATG4B	23192	broad.mit.edu	37	2	242606102	242606102	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:242606102C>A	ENST00000405546.3	+	8	1083	c.581C>A	c.(580-582)gCg>gAg	p.A194E	ATG4B_ENST00000396411.3_Missense_Mutation_p.A120E|ATG4B_ENST00000404914.3_Missense_Mutation_p.A194E|ATG4B_ENST00000474739.2_Missense_Mutation_p.A180E|ATG4B_ENST00000402096.1_Missense_Mutation_p.A120E			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	194					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GGCGCCACTGCGTTTCCTGCA	0.582000													10	6					0.010729	0.0107581	1	1	0
OR4S2	219431	broad.mit.edu	37	11	55419021	55419021	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:55419021C>T	ENST00000312422.2	+	1	642	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TCTTGCTAATCTCCTACAGCA	0.488000													50	40					0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41963895	41963895	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:41963895C>T	ENST00000454645.1	-	0	700					NR_003670.1																						CTTTCCACCCCTTTGATTGCC	0.373000													14	112					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034682	16034682	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:16034682G>A	ENST00000326742.7	-	6	859	c.858C>T	c.(856-858)ttC>ttT	p.F286F	CYP4F11_ENST00000402119.3_Silent_p.F286F|CYP4F11_ENST00000248041.7_Silent_p.F286F			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	286					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGTTCTTGAGGAAATCATCAA	0.532000													34	76					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604839	179604839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:179604839C>T	ENST00000589042.1	-	48	13345	c.13121G>A	c.(13120-13122)gGa>gAa	p.G4374E	TTN_ENST00000342175.6_Missense_Mutation_p.G4203E|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.G4011E|TTN_ENST00000359218.5_Missense_Mutation_p.G4136E|TTN_ENST00000591111.1_Missense_Mutation_p.G4057E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4057	Ig-like 23.						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)			AAGGTCCCTTCCCTGTACCTC	0.468000													17	19					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835492	38835492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:38835492G>A	ENST00000449082.2	-	1	9	c.10C>T	c.(10-12)Ccc>Tcc	p.P4S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	4					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GATCCAATGGGGAATTCCATC	0.473000													49	49					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64502688	64502688	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:64502688C>T	ENST00000377494.1	-	11	2230	c.1308G>A	c.(1306-1308)cgG>cgA	p.R436R	RASGRP2_ENST00000394432.3_Silent_p.R436R|RASGRP2_ENST00000377497.3_Silent_p.R436R|RASGRP2_ENST00000354024.3_Silent_p.R436R			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	436	EF-hand 1.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGTCAAAGTTCCGGAACACAG	0.572000													24	16					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21309078	21309078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:21309078G>A	ENST00000417816.2	-	3	570	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	NEBL_ENST00000377159.4_Missense_Mutation_p.R39C	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	737					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCTTCAGGCGAAGATTTTCA	0.413000													24	46					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480926	20480926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:20480926G>A	ENST00000573854.1	+	4	595	c.481G>A	c.(481-483)Gat>Aat	p.D161N	ACSM2A_ENST00000575690.1_Missense_Mutation_p.D161N|ACSM2A_ENST00000417235.2_Missense_Mutation_p.D82N|ACSM2A_ENST00000424070.1_Missense_Mutation_p.D161N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D161N|ACSM2A_ENST00000536134.1_De_novo_Start_InFrame|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D161N	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	161					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGTTGCTGGGGATGAAGTCAT	0.448000													51	61					0	0	1	0	0
GOLGA6L6	727832	broad.mit.edu	37	15	20743926	20743926	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:20743926C>T	ENST00000427390.2	-	3	456	c.366G>A	c.(364-366)agG>agA	p.R122R		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	122										NS(3)|endometrium(4)|kidney(1)|skin(3)	11						CTAGCTCCCTCCTTAGGGCTT	0.493000													7	1					0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104370810	104370810	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:104370810C>T	ENST00000392872.3	+	2	372	c.138C>T	c.(136-138)gcC>gcT	p.A46A	TDG_ENST00000266775.9_Silent_p.A42A|TDG_ENST00000544861.1_Intron	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	46					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAGTTCCAGCCCCAGCTCCTG	0.443000								Base excision repair (BER), DNA glycosylases					13	39					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76528873	76528873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:76528873C>T	ENST00000307431.8	+	15	2529	c.2144C>T	c.(2143-2145)tCg>tTg	p.S715L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S643L|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S719L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S667L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	716	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S691L(2)|p.S643L(2)		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						GGAGGTTCTTCGCCTGATCTT	0.423000													57	72					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905009	55905009	+	Silent	SNP	G	G	A	rs144645378		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:55905009G>A	ENST00000301529.1	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F62F(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)					GATGTCTCAGGAAAAAGTACA	0.438000													34	127					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65350440	65350440	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:65350440G>A	ENST00000284037.5	+	21	3683	c.3294G>A	c.(3292-3294)caG>caA	p.Q1098Q	ERBB2IP_ENST00000508515.1_Silent_p.Q1098Q|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380939.2_Silent_p.Q1098Q|ERBB2IP_ENST00000380936.1_Silent_p.Q1098Q|ERBB2IP_ENST00000506030.1_Silent_p.Q1098Q|ERBB2IP_ENST00000380935.1_Silent_p.Q1098Q|ERBB2IP_ENST00000511297.1_Silent_p.Q1094Q|ERBB2IP_ENST00000380943.2_Silent_p.Q1098Q|ERBB2IP_ENST00000380938.2_Silent_p.Q1098Q	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1098					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GGCGGGCTCAGATTCCTGAAG	0.478000													19	58					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115351418	115351418	+	Silent	SNP	C	C	T	rs143698388		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:115351418C>T	ENST00000357872.4	+	18	2836	c.2712C>T	c.(2710-2712)gtC>gtT	p.V904V	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		904					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.V904V(1)									GCCGGTATGTCGCAAAAGACT	0.413000													30	23					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121445791	121445791	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:121445791A>G	ENST00000393667.3	-	5	610	c.500T>C	c.(499-501)cTt>cCt	p.L167P	GOLGB1_ENST00000340645.5_Missense_Mutation_p.L167P	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	167					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCCTGAGTAAGCTGGGCTTG	0.413000													30	65					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131196076	131196076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:131196076C>T	ENST00000541194.1	-	2	480	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	PODXL_ENST00000537928.1_Missense_Mutation_p.E73K|PODXL_ENST00000322985.9_Missense_Mutation_p.E73K|PODXL_ENST00000378555.3_Missense_Mutation_p.E73K|PODXL_ENST00000465001.1_5'UTR	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	73	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GCCAAGATTTCGTTGGCCTTG	0.557000													28	43					0	0	1	0	0
RAD9B	144715	broad.mit.edu	37	12	110969391	110969391	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:110969391A>G	ENST00000392672.4	+	12	1346	c.1247A>G	c.(1246-1248)aAa>aGa	p.K416R	RAD9B_ENST00000409246.1_3'UTR|RAD9B_ENST00000409778.3_Missense_Mutation_p.K311E|PPTC7_ENST00000354300.3_3'UTR|RAD9B_ENST00000409425.1_3'UTR|RAD9B_ENST00000409300.1_3'UTR	NM_152442.3	NP_689655.3	Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	413					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGCTGCAGGAAAGAATTTAAT	0.358000													10	17					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27173333	27173333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:27173333G>A	ENST00000380036.4	+	6	1316	c.874G>A	c.(874-876)Ggc>Agc	p.G292S	TEK_ENST00000519097.1_Missense_Mutation_p.G188S|TEK_ENST00000406359.4_Missense_Mutation_p.G292S	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	292	EGF-like 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CTGTGCCACAGGCTGGAAGGG	0.488000													23	49					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72347510	72347510	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:72347510T>C	ENST00000299687.5	+	1	4535	c.4535T>C	c.(4534-4536)tTg>tCg	p.L1512S	ZNF407_ENST00000582337.1_Missense_Mutation_p.L1512S|ZNF407_ENST00000309902.6_Missense_Mutation_p.L1512S|ZNF407_ENST00000577538.1_Missense_Mutation_p.L1512S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CATGAGGAATTGCTGCGGGAG	0.453000													21	19					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100515155	100515155	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:100515155C>T	ENST00000395996.1	+	27	4245	c.4134C>T	c.(4132-4134)ttC>ttT	p.F1378F	VPS13B_ENST00000358544.2_Silent_p.F1378F|VPS13B_ENST00000357162.2_Silent_p.F1378F			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1378					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAGAGAGTTTCAATATTGATC	0.294000													85	64					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76623860	76623860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:76623860C>T	ENST00000369981.3	+	34	3802	c.3523C>T	c.(3523-3525)Cca>Tca	p.P1175S	MYO6_ENST00000369975.1_Missense_Mutation_p.P1142S|MYO6_ENST00000369985.4_Missense_Mutation_p.P1151S|MYO6_ENST00000369977.3_Missense_Mutation_p.P1174S			Q9UM54	MYO6_HUMAN	myosin VI	1183					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CTTCCGCATCCCATTCATCCG	0.512000													92	38					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160032940	160032940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:160032940G>A	ENST00000263635.6	+	13	2050	c.1813G>A	c.(1813-1815)Gga>Aga	p.G605R	TANC1_ENST00000454300.1_Missense_Mutation_p.G499R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	605						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ACCTGATTATGGAGATACGCT	0.303000													11	24					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955399	141955399	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:141955399C>T	ENST00000552471.1	-	2	454	c.135G>A	c.(133-135)ctG>ctA	p.L45L	PRSS58_ENST00000547058.2_Silent_p.L45L			Q8IYP2	PRS58_HUMAN	protease, serine, 58	45	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.L45L(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GCGGGTGGATCAGGACTCCAG	0.498000													25	41					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525627	176525627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:176525627C>T	ENST00000367662.3	+	2	1333	c.169C>T	c.(169-171)Cga>Tga	p.R57*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.R57*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	57					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCAAGGTTCGAAGACCCAG	0.567000													58	45					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224636	55224636	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:55224636C>T	ENST00000413439.1	+	0	1808																											GAATCTCATCCGCGTGGCTGT	0.572000													17	27					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717364	222717364	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:222717364C>T	ENST00000343410.6	-	2	547	c.489G>A	c.(487-489)agG>agA	p.R163R		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	163					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGGTACCGTCCCTTCCATGAG	0.567000													28	93					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503762	140503762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140503762G>A	ENST00000194152.1	+	1	2182	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		728					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGTGCCCGAGGGCCCCTT	0.667000													68	151					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54492258	54492258	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:54492258G>A	ENST00000375135.3	-	7	2101	c.1368C>T	c.(1366-1368)atC>atT	p.I456I		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	456	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTTTCTGCAGGATGTCTCCAA	0.567000													19	8					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73490925	73490925	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:73490925T>A	ENST00000556143.1	-	2	1012	c.292A>T	c.(292-294)Aac>Tac	p.N98Y	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.N98Y|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.N98Y	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	98						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AGGCACAAGTTAATTTTGCAG	0.507000													97	157					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81199444	81199444	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:81199444C>T	ENST00000525539.1	-	0	3217				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGTTTGTACCTGTTTGTGTA	0.582000													15	20					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25483187	25483187	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:25483187C>T	ENST00000453082.2	+	0	1979				SNORD115-37_ENST00000363768.1_RNA	NR_003343.1																						ACTTAAACATCATGCTTAATA	0.478000													36	64					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95735798	95735798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:95735798C>T	ENST00000311106.3	-	10	1526	c.1289G>A	c.(1288-1290)gGa>gAa	p.G430E	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.G383E	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	430					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAAGCCTGCTCCATTCTTTTT	0.532000													58	67					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94639802	94639802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:94639802C>T	ENST00000260526.6	-	23	3591	c.3409G>A	c.(3409-3411)Gag>Aag	p.E1137K		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1137					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCAGATGCCTCTCTCACTGAC	0.493000													61	49					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55924969	55924969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:55924969G>A	ENST00000244728.5	-	28	2852	c.2455C>T	c.(2455-2457)Cat>Tat	p.H819Y	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Intron|COL21A1_ENST00000370819.1_Missense_Mutation_p.H816Y|COL21A1_ENST00000535941.1_Missense_Mutation_p.H819Y	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	819					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GACAGGCAATGATCACAATTT	0.493000													9	20					0	0	1	0	0
MIR543	100126335	broad.mit.edu	37	14	101498354	101498354	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:101498354C>T	ENST00000390751.1	+	0	31					NR_030619.1																						GTGTTTTTTTCGCTTTATTTG	0.498000													14	30					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044791	119044791	+	Silent	SNP	A	A	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:119044791A>G	ENST00000334464.5	-	5	1692	c.1453T>C	c.(1453-1455)Ttg>Ctg	p.L485L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	485					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTACTGTCAACCCGGCAGCT	0.428000													48	94					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33234753	33234753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:33234753C>T	ENST00000269195.5	+	1	230	c.127C>T	c.(127-129)Cct>Tct	p.P43S	GALNT1_ENST00000591081.1_Missense_Mutation_p.P43S|GALNT1_ENST00000537549.1_5'UTR	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	43					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GAGAGGACTTCCTGCTGGAGA	0.353000													15	32					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166909378	166909378	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:166909378C>T	ENST00000423058.2	-	5	695	c.678G>A	c.(676-678)acG>acA	p.T226T	SCN1A_ENST00000303395.4_Silent_p.T226T|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.T226T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Silent_p.T226T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	226			T -> M (in SMEI; borderline phenotype; also found in a patient with cryptogenic generalized epilepsy; dbSNP:rs121917984).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGACTGAAATCGTCTTCAATG	0.443000													4	4					0	0	1	0	0
TRAV22	28661	broad.mit.edu	37	14	22539336	22539336	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:22539336C>T	ENST00000390450.3	+	0	329																											GCTCATCAACCTGTTTTACAT	0.478000													14	18					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511493	58511493	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:58511493G>A	ENST00000588627.1	-	0	1864																											GGCCGATCTTGGGGGCCAGGG	0.572000													12	9					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35331759	35331759	+	Silent	SNP	G	G	A	rs139407093		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:35331759G>A	ENST00000373347.1	-	12	3133	c.2865C>T	c.(2863-2865)tcC>tcT	p.S955S	DLGAP3_ENST00000235180.4_Silent_p.S955S			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	955					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TGTGGCGGAAGGAAGCGGCGC	0.746000													4	18					0	0	1	0	0
HSF2	3298	broad.mit.edu	37	6	122744078	122744078	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:122744078A>T	ENST00000452194.1	+	9	1233	c.1046A>T	c.(1045-1047)aAt>aTt	p.N349I	HSF2_ENST00000465214.1_3'UTR|HSF2_ENST00000368455.4_Missense_Mutation_p.N349I	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	349					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TCCATTTTGAATGATAACATC	0.403000													32	12					0	0	1	0	0
ECHDC2	55268	broad.mit.edu	37	1	53373571	53373571	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:53373571G>A	ENST00000536120.1	-	7	1012	c.195C>T	c.(193-195)gtC>gtT	p.V65V	ECHDC2_ENST00000541281.1_Silent_p.V65V|ECHDC2_ENST00000358358.5_Silent_p.V111V|ECHDC2_ENST00000371522.4_Silent_p.V111V			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	111					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						GGAGTCGCTGGACAAACACCC	0.612000													16	78					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651486	7651486	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:7651486C>T	ENST00000359156.4	-	4	958	c.756G>A	c.(754-756)gaG>gaA	p.E252E	CD163_ENST00000541972.1_Silent_p.E240E|CD163_ENST00000432237.2_Silent_p.E252E|CD163_ENST00000396620.3_Silent_p.E252E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	252	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTCCAGCATCCTCAGCATGAT	0.428000													52	105					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22278176	22278176	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:22278176C>T	ENST00000263026.5	+	15	2217	c.1743C>T	c.(1741-1743)atC>atT	p.I581I		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	581					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CTCATCACATCCTAGCCGATG	0.632000													38	79					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418000													3	156					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186092168	186092168	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:186092168C>T	ENST00000271588.4	+	81	12544	c.12315C>T	c.(12313-12315)ctC>ctT	p.L4105L	HMCN1_ENST00000367492.2_Silent_p.L4105L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4105	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGATGGCCTCCCTCCGCCTG	0.473000													43	41					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43805659	43805659	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:43805659G>A	ENST00000372470.3	+	5	757	c.715G>A	c.(715-717)Gga>Aga	p.G239R	MPL_ENST00000413998.2_Missense_Mutation_p.G239R	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	239					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCAGAGGGTGGAAGCTGCCT	0.577000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						8	57					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845834	123845834	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:123845834G>A	ENST00000369005.1	+	4	4159	c.3819G>A	c.(3817-3819)gaG>gaA	p.E1273E	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.E1273E|TACC2_ENST00000515603.1_Silent_p.E1273E|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.E1273E|TACC2_ENST00000334433.3_Silent_p.E1273E	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1273						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGTAGGGGAGCCCCCACTTG	0.602000													17	32					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216680314	216680314	+	Silent	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:216680314T>C	ENST00000391890.3	-	9	1813	c.1296A>G	c.(1294-1296)aaA>aaG	p.K432K	ESRRG_ENST00000361395.2_Silent_p.K425K|ESRRG_ENST00000366938.2_Silent_p.K425K|ESRRG_ENST00000361525.3_Silent_p.K425K|ESRRG_ENST00000359162.2_Silent_p.K425K|ESRRG_ENST00000366937.1_Silent_p.K460K|ESRRG_ENST00000366940.2_Silent_p.K425K|ESRRG_ENST00000493603.1_Silent_p.K425K|ESRRG_ENST00000360012.3_Silent_p.K425K|ESRRG_ENST00000408911.3_Silent_p.K448K|ESRRG_ENST00000463665.1_Silent_p.K386K|ESRRG_ENST00000487276.1_Silent_p.K425K|ESRRG_ENST00000493748.1_Silent_p.K425K	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	448					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CCAAAAAAAGTTTGTGCATTG	0.468000													12	44					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141583025	141583025	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:141583025G>A	ENST00000220592.5	-	3	334	c.222C>T	c.(220-222)atC>atT	p.I74I	AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Silent_p.I74I	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		TGTGTTCCACGATTTCCCTGA	0.408000													42	47					0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181591	3181591	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:3181591G>A	ENST00000408891.2	-	1	677	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	213					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CTGCCATGATGAAACCCACAG	0.542000													38	41					0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839538	27839538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:27839538C>T	ENST00000356790.2	+	3	360	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	39								p.P39A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GGAAGAATCTCCCCCCTCTGC	0.522000													17	4					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96466555	96466555	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:96466555C>T	ENST00000285979.6	+	5	856	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CYP2C18_ENST00000339022.5_Intron|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GCAATAATTTCCCTGCTCTCA	0.299000													9	12					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87662904	87662904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:87662904C>T	ENST00000436978.1	+	16	2902	c.2422C>T	c.(2422-2424)Cac>Tac	p.H808Y	PTPN13_ENST00000316707.6_Missense_Mutation_p.H808Y|PTPN13_ENST00000511467.1_Missense_Mutation_p.H808Y|PTPN13_ENST00000411767.2_Missense_Mutation_p.H808Y|PTPN13_ENST00000427191.2_Missense_Mutation_p.H808Y	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	808	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTTTGAAGTTCACAATGGAGT	0.393000													8	14					0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70043999	70043999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:70043999G>A	ENST00000358769.2	-	10	1004	c.802C>T	c.(802-804)Cca>Tca	p.P268S	PBLD_ENST00000309049.4_Missense_Mutation_p.P268S|PBLD_ENST00000336578.1_Missense_Mutation_p.P235S	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	268					biosynthetic process		isomerase activity	p.P268T(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTTCCGTCTGGACGAAGGGAA	0.458000													41	67					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149229	34149229	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:34149229C>T	ENST00000346193.3	-	1	1218	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	389										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTCCGGGCTGAGAT	0.622000													29	13					0	0	1	0	0
ORMDL2	29095	broad.mit.edu	37	12	56213193	56213193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:56213193G>A	ENST00000243045.5	+	3	437	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	RP11-762I7.5_ENST00000552719.1_Intron|RP11-762I7.5_ENST00000546837.1_Intron|ORMDL2_ENST00000548974.1_Missense_Mutation_p.R81Q|ORMDL2_ENST00000550836.1_5'UTR|ORMDL2_ENST00000552672.1_Missense_Mutation_p.R47Q	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORM1-like 2 (S. cerevisiae)	81					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				kidney(1)|lung(3)	4						GGAAAGGCTCGGCTACTGACA	0.537000													59	96					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987166	61987166	+	Missense_Mutation	SNP	C	C	T	rs149151535		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:61987166C>T	ENST00000259003.10	-	5	532	c.388G>A	c.(388-390)Ggg>Agg	p.G130R	CSHL1_ENST00000309894.5_Missense_Mutation_p.G192R|CSHL1_ENST00000438387.2_Missense_Mutation_p.G109R|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.G98R			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	192						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TGGAGCAGCCCGTAGTTCTTG	0.587000													69	160					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128176241	128176241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:128176241C>T	ENST00000543064.1	-	2	332	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000368248.2_Missense_Mutation_p.E62K|THEMIS_ENST00000537166.1_Missense_Mutation_p.E27K	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	62	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCACAAATTTCAGCTATGATC	0.358000													26	5					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5306727	5306727	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:5306727G>A	ENST00000274181.7	+	21	3435	c.3297G>A	c.(3295-3297)ccG>ccA	p.P1099P		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1099	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACATTTGCCGAAGCCCAGCC	0.547000													44	10					0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43662605	43662605	+	Missense_Mutation	SNP	G	G	A	rs149395667	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:43662605G>A	ENST00000378069.4	-	4	473	c.326C>T	c.(325-327)cCa>cTa	p.P109L	MAOB_ENST00000538942.1_Missense_Mutation_p.P93L|MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000536181.1_Missense_Mutation_p.P93L	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	109					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	GTAGGTAATTGGATTCCATAC	0.358000													19	9					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432608	104432608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:104432608C>T	ENST00000361820.3	-	3	2686	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	696					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTCTTCCATTCATACAGAGTG	0.488000													33	58					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519485	53519485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:53519485G>A	ENST00000370905.3	-	2	726	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	KLHL31_ENST00000407079.1_Missense_Mutation_p.R196W	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	196	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AAGTTATCCCGAATAAATTTC	0.348000													36	48					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40810326	40810326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:40810326G>A	ENST00000316607.5	+	11	1870	c.1403G>A	c.(1402-1404)gGg>gAg	p.G468E	NSUN7_ENST00000381782.2_Silent_p.R509R					NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AATTGCAGCGGGACCCTTCTG	0.418000													43	53					0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411779	39411779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:39411779C>T	ENST00000394008.1	+	1	144	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	48						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCCTTGCTGCCGCCCAGCTTG	0.642000													32	59					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122676082	122676082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:122676082G>A	ENST00000339777.4	+	6	1085	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	LRRC43_ENST00000425921.1_Missense_Mutation_p.E168K	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	353	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGAAGAAGGCGAAATGAATGA	0.552000											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	57					0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7324917	7324917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:7324917G>A	ENST00000323675.3	+	3	948	c.923G>A	c.(922-924)gGg>gAg	p.G308E	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	308					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				TCCCTAACTGGGAGGTGACTG	0.582000													11	22					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14792868	14792868	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:14792868C>T	ENST00000261170.3	-	19	2221	c.2085G>A	c.(2083-2085)gtG>gtA	p.V695V		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	695	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGGAATTTTCCACTCTGAAAA	0.363000													18	36					0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516118	138516118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:138516118G>A	ENST00000371763.1	-	5	909	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	219			P -> S (in dbSNP:rs17040344).		carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CTGTCCAAACGGGATGCAAGC	0.488000													37	69					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40015403	40015403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:40015403C>T	ENST00000336649.4	+	6	571	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	CACNA1I_ENST00000407673.1_Missense_Mutation_p.R191C|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R191C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R191C|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R191C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R191C			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	191					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AGCCATCAACCGCGTGCCCAG	0.622000													30	80					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33382582	33382582	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:33382582C>T	ENST00000374516.3	+	11	1296	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L	PHF1_ENST00000374512.3_Missense_Mutation_p.P342L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	342					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GTGGAGCCCCCTACTGGAGAT	0.527000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	78					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151859299	151859299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:151859299G>A	ENST00000355193.2	-	43	11581	c.11363C>T	c.(11362-11364)tCt>tTt	p.S3788F	KMT2C_ENST00000262189.6_Missense_Mutation_p.S3788F					lysine (K)-specific methyltransferase 2C																		ATTCAAAAGAGAAGATGACTT	0.433000													10	9					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313844	41313844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:41313844G>A	ENST00000377801.3	-	3	915	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	PLCXD3_ENST00000328457.3_Missense_Mutation_p.R281C			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	281					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTCTGCGTGCGGACCCACTGC	0.428000													7	26					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89202882	89202882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:89202882C>T	ENST00000554922.1	-	7	1123	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	EML5_ENST00000380664.5_Missense_Mutation_p.R292Q|EML5_ENST00000352093.5_Missense_Mutation_p.R292Q	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	292						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTGGTCACCTCGCCAACACAC	0.358000													45	77					0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048520	22048520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:22048520G>A	ENST00000376980.3	-	11	1465	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	392					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CTGAACTGTCGATTTGAGTTC	0.562000													25	42					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506751	155506751	+	Silent	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:155506751T>C	ENST00000302053.3	-	5	1908	c.1830A>G	c.(1828-1830)gaA>gaG	p.E610E	FGA_ENST00000403106.3_Silent_p.E610E	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	610					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CATGATCGGCTTCACTTCCGG	0.478000													37	46					0	0	1	0	0
DNM1P34	729809	broad.mit.edu	37	15	75595274	75595274	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:75595274C>T	ENST00000567292.1	-	0	32																											AAAAGAACATCTCCAGGTCCC	0.527000													4	3					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349108	100349108	+	Missense_Mutation	SNP	C	C	T	rs72552718		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:100349108C>T	ENST00000437033.2	-	5	889	c.386G>A	c.(385-387)aGa>aAa	p.R129K	ADH7_ENST00000476959.1_Missense_Mutation_p.R149K|ADH7_ENST00000482593.1_Missense_Mutation_p.R72K|ADH7_ENST00000209665.4_Missense_Mutation_p.R141K			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	141					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)	GCATGTAAATCTGGTGGTGCC	0.383000													43	69					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115130016	115130016	+	Missense_Mutation	SNP	C	C	T	rs139442561		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:115130016C>T	ENST00000393274.1	-	20	3372	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q	DENND2C_ENST00000393277.1_Missense_Mutation_p.R804Q|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R859Q	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	916										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCAAGACTCCGCAAAATTCT	0.468000													164	164					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477162	63477162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:63477162G>A	ENST00000536984.2	+	3	1127	c.433G>A	c.(433-435)Gat>Aat	p.D145N	CDH7_ENST00000397968.2_Missense_Mutation_p.D145N|CDH7_ENST00000323011.3_Missense_Mutation_p.D145N			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	145	Cadherin 1.				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)				CAAAATTCAGGATATCAACGA	0.507000													40	176					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137499029	137499029	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:137499029G>C	ENST00000254900.5	-	15	2248	c.1877C>G	c.(1876-1878)gCc>gGc	p.A626G	BRD8_ENST00000455658.2_Missense_Mutation_p.A585G|BRD8_ENST00000402931.1_Missense_Mutation_p.A626G|BRD8_ENST00000515014.1_Intron|BRD8_ENST00000411594.2_Missense_Mutation_p.A629G|BRD8_ENST00000230901.5_Missense_Mutation_p.A699G	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	626					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCACCTGGGGCATCCTTAGA	0.448000													17	50					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681122	100681122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:100681122C>T	ENST00000306151.4	+	3	6489	c.6425C>T	c.(6424-6426)tCt>tTt	p.S2142F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2142	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGTTCATCTCCTATACCT	0.498000													102	181					0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20797593	20797593	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:20797593G>A	ENST00000356192.6	-	5	647	c.27C>T	c.(25-27)ttC>ttT	p.F9F	GJB6_ENST00000241124.6_Silent_p.F9F|GJB6_ENST00000400066.3_Silent_p.F9F|GJB6_ENST00000400065.3_Silent_p.F9F	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	9					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CACCCCCGATGAAAGTGTGCA	0.507000													52	150					0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39627804	39627804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:39627804C>T	ENST00000331163.6	-	4	1066	c.279G>A	c.(277-279)atG>atA	p.M93I	PDGFB_ENST00000381551.4_Missense_Mutation_p.M78I	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	93					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	ACTCGGCGATCATGGCCGGCT	0.647000			T	COL1A1	DFSP								5	21					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002676	122002676	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:122002676C>T	ENST00000498619.1	+	7	2343	c.1905C>T	c.(1903-1905)ttC>ttT	p.F635F	CASR_ENST00000296154.5_Silent_p.F625F|CASR_ENST00000490131.1_Silent_p.F625F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	625					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGGCATTTTCCTGACAGCCT	0.552000													20	47					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34809819	34809819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:34809819G>A	ENST00000338074.2	+	20	2634	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K	EPB41L1_ENST00000202028.5_Missense_Mutation_p.E723K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E723K|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E824K|EPB41L1_ENST00000373946.3_Missense_Mutation_p.E645K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E716K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	825	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GACAAGGATCGAGAAGCGAAT	0.552000													32	103					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89039314	89039314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:89039314C>T	ENST00000251038.5	+	6	1049	c.824C>T	c.(823-825)cCg>cTg	p.P275L	ZC3H14_ENST00000557607.1_Missense_Mutation_p.P120L|ZC3H14_ENST00000359301.3_Missense_Mutation_p.P241L|ZC3H14_ENST00000336693.4_Missense_Mutation_p.P241L|ZC3H14_ENST00000302216.8_Missense_Mutation_p.P275L|ZC3H14_ENST00000555755.1_Missense_Mutation_p.P275L|ZC3H14_ENST00000556945.1_Missense_Mutation_p.P275L|ZC3H14_ENST00000393514.5_Missense_Mutation_p.P275L	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	275						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ACGTATAGTCCGTTCTTTAGA	0.393000													31	38					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56676346	56676346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:56676346G>A	ENST00000389934.3	-	14	2477	c.2360C>T	c.(2359-2361)gCc>gTc	p.A787V	TEX14_ENST00000240361.8_Missense_Mutation_p.A793V|TEX14_ENST00000349033.5_Missense_Mutation_p.A787V	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	793						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGCCCACGGCCAGAGGTAA	0.468000													61	41					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285838	223285838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:223285838G>A	ENST00000540964.1	-	4	997	c.536C>T	c.(535-537)tCc>tTc	p.S179F	TLR5_ENST00000342210.6_Missense_Mutation_p.S179F			O60602	TLR5_HUMAN	toll-like receptor 5	179					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TATTTGGTTGGAGGAAAAATC	0.413000													24	57					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40810325	40810325	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:40810325G>A	ENST00000381782.2	+	12	2021	c.1524_splice	c.e12-1	p.R509_splice	NSUN7_ENST00000316607.5_Splice_Site_p.G468_splice	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TAATTGCAGCGGGACCCTTCT	0.418000													44	53					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176845688	176845688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:176845688C>T	ENST00000367654.2	-	21	3485	c.3472G>A	c.(3472-3474)Gat>Aat	p.D1158N	ASTN1_ENST00000424564.2_Missense_Mutation_p.D1150N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D1150N|ASTN1_ENST00000361833.2_Missense_Mutation_p.D1150N			O14525	ASTN1_HUMAN	astrotactin 1	1158					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCCTTGACATCATCCACCACG	0.577000													20	69					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42906414	42906414	+	Silent	SNP	G	G	A	rs138793399	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:42906414G>A	ENST00000422265.1	+	3	595	c.420G>A	c.(418-420)ctG>ctA	p.L140L	ACKR2_ENST00000442925.1_Silent_p.L140L|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.L140L	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		GCATGAGCCTGGACAAGTACC	0.512000													26	120					0	0	1	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106994082	106994082	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:106994082C>T	ENST00000390624.2	-	0	161																											TACCAAGCCTCCCCCAGACTC	0.557000													55	64					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:146059041A>G	ENST00000454497.2	-	21	2828	c.2691T>C	c.(2689-2691)caT>caC	p.H897H	OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	961							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478000													4	160					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051662	75051662	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:75051662G>A	ENST00000401621.2	-	18	2211	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S	TTC18_ENST00000394865.1_Silent_p.S697S|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_Silent_p.S166S|TTC18_ENST00000310715.3_Silent_p.S697S|TTC18_ENST00000493787.1_5'UTR			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	697							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCTGGTTGAGGGAAAGGGCTT	0.458000													45	90					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101706809	101706809	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:101706809G>A	ENST00000409318.1	-	2	275	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	TBC1D8_ENST00000376840.4_Silent_p.L49L	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	49					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						ACTGCATCCAGAGCGCCGACC	0.542000													11	32					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72879317	72879317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:72879317C>T	ENST00000361138.5	+	2	341	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	95					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TGCCATTTGCCTTGGTTTAGC	0.383000													30	78					0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73228693	73228693	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:73228693G>A	ENST00000272433.2	-	7	502	c.372C>T	c.(370-372)ctC>ctT	p.L124L	SFXN5_ENST00000410065.1_Silent_p.L124L|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	124					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GGTTGGGCAAGAGAAGACCGA	0.478000													14	34					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106174252	106174252	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:106174252G>A	ENST00000390547.2	-	0	536																											AGCAGCCACAGAGGTCACGCT	0.612000													5	7					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616161	1616161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:1616161G>A	ENST00000381580.1	-	4	913	c.734C>T	c.(733-735)cCc>cTc	p.P245L	SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000303415.3_Missense_Mutation_p.P278L|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	278	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TAGGCTCTGGGGGTAGAACTT	0.547000													92	50					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507777	155507777	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:155507777C>T	ENST00000302053.3	-	5	882	c.804G>A	c.(802-804)gaG>gaA	p.E268E	FGA_ENST00000403106.3_Silent_p.E268E	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	268					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTCGAGTAATCTCATTTCCAC	0.522000													63	55					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7846733	7846733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:7846733C>T	ENST00000380262.3	+	10	2261	c.1336C>T	c.(1336-1338)Cag>Tag	p.Q446*	CNTROB_ENST00000563694.1_Nonsense_Mutation_p.Q446*|CNTROB_ENST00000380255.3_Nonsense_Mutation_p.Q446*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.Q446*	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	446	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CCAGCGGATCCAGCTGGAGTC	0.592000													36	31					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427668	25427668	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:25427668G>A	ENST00000424208.1	+	0	272					NR_003305.1																						CCCCAGGAGGGCCCCTGTATT	0.557000													33	71					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205307724	205307724	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:205307724C>T	ENST00000367156.3	-	8	1574	c.757_splice	c.e8-1	p.G253_splice	KLHDC8A_ENST00000539253.1_Splice_Site_p.G253_splice|KLHDC8A_ENST00000367155.3_Splice_Site_p.G253_splice|KLHDC8A_ENST00000460687.1_Splice_Site_p.G119_splice|KLHDC8A_ENST00000537168.1_Splice_Site_p.G140_splice	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	253										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGCCATCCCCCTATAGGCCA	0.517000													38	53					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233746933	233746933	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:233746933C>T	ENST00000264051.3	-	13	2078	c.1800G>A	c.(1798-1800)agG>agA	p.R600R	NGEF_ENST00000539537.1_Silent_p.R323R|NGEF_ENST00000373552.4_Silent_p.R508R	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	600	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ACTTGGTCCTCCTGTTGGGGG	0.617000													12	24					0	0	1	0	0
UBA52	7311	broad.mit.edu	37	19	18685735	18685735	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:18685735C>T	ENST00000442744.2	+	4	304	c.246C>T	c.(244-246)ctC>ctT	p.L82L	UBA52_ENST00000597451.1_Silent_p.L82L|UBA52_ENST00000595158.1_Silent_p.L82L|UBA52_ENST00000599595.1_Silent_p.L82L|UBA52_ENST00000430157.2_Silent_p.L82L|UBA52_ENST00000596273.1_Silent_p.L82L|UBA52_ENST00000596304.1_Silent_p.L82L|UBA52_ENST00000599551.1_Silent_p.L82L|UBA52_ENST00000595683.1_Silent_p.L82L|UBA52_ENST00000598780.1_Silent_p.L82L|CRLF1_ENST00000594325.1_Intron	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	82					activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						AGCCTTCTCTCCGCCAGCTTG	0.617000													12	33					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50764857	50764857	+	Silent	SNP	C	C	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:50764857C>A	ENST00000440075.2	+	21	2597	c.2550C>A	c.(2548-2550)tcC>tcA	p.S850S	MYH14_ENST00000425460.1_Silent_p.S817S|MYH14_ENST00000376970.2_Silent_p.S842S|MYH14_ENST00000601313.1_Silent_p.S850S|MYH14_ENST00000598205.1_Silent_p.S817S|MYH14_ENST00000596571.1_Silent_p.S809S|MYH14_ENST00000262269.8_Silent_p.S850S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	809					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCATCGTCTCCTTCCAGGCAG	0.652000													6	20					8.12818e-05	8.15572e-05	1	1	0
CYFIP1	23191	broad.mit.edu	37	15	22990188	22990188	+	Silent	SNP	C	C	T	rs148724829		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:22990188C>T	ENST00000313077.7	+	24	2933	c.2808C>T	c.(2806-2808)gtC>gtT	p.V936V	CYFIP1_ENST00000435939.2_Silent_p.V505V|CYFIP1_ENST00000560848.1_Silent_p.V936V	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	936					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGCTGAAGGTCGTCAAGAGCC	0.582000													22	37					0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71880961	71880961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:71880961G>A	ENST00000307864.1	-	4	514	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	AIFM2_ENST00000373248.1_Missense_Mutation_p.P101S	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	101					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						TGAGAGAAGGGCAGGGCCTGA	0.532000													8	19					0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344866	50344866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:50344866C>T	ENST00000199280.3	+	1	338	c.253C>T	c.(253-255)Cga>Tga	p.R85*		NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	85					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CTCCGTTCTCCGAGCCGCCTT	0.667000													3	14					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	295177	295177	+	Silent	SNP	G	G	A	rs148086983	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:295177G>A	ENST00000390665.3	-	13	1671	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	551					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGCGCCTCGAAGAAGGGCC	0.711000													11	5					0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49116546	49116546	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:49116546G>A	ENST00000263266.3	-	1	273	c.84C>T	c.(82-84)tcC>tcT	p.S28S		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	28										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCTGGCCCTCGGAATATAGAA	0.706000													7	8					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976538	34976538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:34976538C>T	ENST00000242315.3	+	5	732	c.650C>T	c.(649-651)tCc>tTc	p.S217F	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.S217F	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	217							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			ACAGATTGCTCCCTGACACTG	0.662000													15	26					0	0	1	0	0
CCDC61	729440	broad.mit.edu	37	19	46521385	46521385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:46521385C>T	ENST00000263284.2	+	14	1475	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	CCDC61_ENST00000594087.1_Missense_Mutation_p.S293F|CCDC61_ENST00000595358.1_Missense_Mutation_p.S473F|CCDC61_ENST00000536603.1_Missense_Mutation_p.S293F					coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CTGGCCAACTCCGGGGGCTGG	0.607000													7	7					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39512337	39512337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:39512337C>T	ENST00000287152.7	-	12	1514	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	KIF6_ENST00000373213.4_Missense_Mutation_p.E313K|KIF6_ENST00000538893.1_Missense_Mutation_p.E474K|KIF6_ENST00000373216.3_Missense_Mutation_p.E474K|KIF6_ENST00000373215.3_Missense_Mutation_p.E474K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	474					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						ATACTGATTTCGTTATCTCTC	0.408000													22	31					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47754290	47754290	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:47754290T>A	ENST00000489301.2	+	2	255	c.170T>A	c.(169-171)aTg>aAg	p.M57K	OPN5_ENST00000393699.2_Missense_Mutation_p.M57K|OPN5_ENST00000371211.2_Missense_Mutation_p.M57K			Q6U736	OPN5_HUMAN	opsin 5	57					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						GTCCTTTACATGTCTTCTAGA	0.378000													39	35					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763875	14763875	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:14763875G>A	ENST00000358984.4	+	7	1191	c.1011G>A	c.(1009-1011)agG>agA	p.R337R	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.R337R	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	337										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAACACCTAGGAAAATTTTGA	0.418000													7	4					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110504139	110504139	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:110504139G>A	ENST00000378402.5	+	62	10256	c.10152G>A	c.(10150-10152)ggG>ggA	p.G3384G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3384					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)			GAGTCCGAGGGAATTTGATTG	0.383000										HNSCC(38;0.096)			7	16					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105352963	105352963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:105352963C>T	ENST00000453495.1	+	12	2618	c.2390C>T	c.(2389-2391)tCt>tTt	p.S797F	CEP170B_ENST00000414716.3_Missense_Mutation_p.S796F|CEP170B_ENST00000418279.1_Missense_Mutation_p.S726F|CEP170B_ENST00000556508.1_Missense_Mutation_p.S726F					centrosomal protein 170B																		ACTCCCGCCTCTTTCTTCATT	0.677000													6	11					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113543643	113543643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:113543643C>T	ENST00000546530.1	-	17	1994	c.1709G>A	c.(1708-1710)cGa>cAa	p.R570Q	RASAL1_ENST00000261729.5_Missense_Mutation_p.R568Q|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.R568Q|RASAL1_ENST00000548055.1_Missense_Mutation_p.R569Q	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	568	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						ATAGCCTTCTCGAACAATGGC	0.637000													16	45					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29293945	29293945	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:29293945G>A	ENST00000331664.5	-	1	3182	c.3183C>T	c.(3181-3183)ccC>ccT	p.P1061P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1061	Pro-rich.				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						GTGCACTCTCGGGGGGAGGGT	0.672000													42	47					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220089864	220089864	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:220089864T>C	ENST00000409618.1	-	7	884	c.445A>G	c.(445-447)Aag>Gag	p.K149E	ATG9A_ENST00000409422.1_Missense_Mutation_p.K88E|ATG9A_ENST00000361242.4_Missense_Mutation_p.K149E|ATG9A_ENST00000396761.2_Missense_Mutation_p.K149E			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	149					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGATGAACTTGATAAGCCGG	0.512000													36	59					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522588	96522588	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:96522588C>T	ENST00000371321.3	+	1	208	c.126C>T	c.(124-126)atC>atT	p.I42I	CYP2C19_ENST00000464755.1_Intron	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	42					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTGGAAATATCCTACAGATAG	0.418000													27	50					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50865469	50865469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:50865469C>T	ENST00000253719.2	-	2	393	c.185G>A	c.(184-186)gGg>gAg	p.G62E	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	62					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GGGCTTGTCCCCAGGGGATGG	0.587000													12	33					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88376927	88376927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:88376927C>T	ENST00000298699.2	-	12	1352	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q	C12orf50_ENST00000550553.1_Missense_Mutation_p.R352Q	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	391								p.R391Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AAAAGGAATTCGTTTTCGCCA	0.264000													23	43					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173259	207173259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:207173259C>T	ENST00000374423.3	+	5	4393	c.4007C>T	c.(4006-4008)cCt>cTt	p.P1336L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1336							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAAATATCCCTCTTCAGTCA	0.373000													11	28					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172099	81172099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:81172099G>A	ENST00000394685.3	+	5	703	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	KIAA1199_ENST00000220244.3_Missense_Mutation_p.R95Q|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R95Q			Q8WUJ3	K1199_HUMAN	KIAA1199	95	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATTGTTTTGCGAACCCGGCAC	0.498000													24	44					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994858	143994858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:143994858G>A	ENST00000323110.2	-	6	966	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	322					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.P322T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ATCAGCAAGGGAAACGCTGTC	0.632000									Familial Hyperaldosteronism type I				25	76					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137025	126137025	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:126137025G>A	ENST00000299308.3	+	8	1946	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	TMEM132B_ENST00000535886.1_Silent_p.K158K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	646						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGGCTGAGAAGACGGTGATTG	0.557000													11	19					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435015	10435015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:10435015C>T	ENST00000245503.5	-	22	3016	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E878K|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	878					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTCCAGTTCCTTCCTTTTT	0.423000													24	59					0	0	1	0	0
ZNF724P	440519	broad.mit.edu	37	19	23405853	23405853	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:23405853T>A	ENST00000418100.1	-	4	1311	c.1194A>T	c.(1192-1194)gaA>gaT	p.E398D																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						CTTTGCCACATTCTTCACATT	0.393000													6	27					0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64559739	64559739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:64559739G>A	ENST00000294066.2	-	26	1910	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	MAP4K2_ENST00000377350.3_Missense_Mutation_p.P599S	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	607	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CCCGTGTAGGGGTTCCGCACT	0.697000													15	16					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55449590	55449590	+	Missense_Mutation	SNP	G	G	A	rs104895549		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:55449590G>A	ENST00000446217.1	-	7	2437	c.2035C>T	c.(2035-2037)Ccg>Tcg	p.P679S	NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000590030.1_Missense_Mutation_p.P651S|NLRP7_ENST00000592784.1_Missense_Mutation_p.P651S|NLRP7_ENST00000340844.2_Missense_Mutation_p.P651S|NLRP7_ENST00000588756.1_Missense_Mutation_p.P651S|NLRP7_ENST00000328092.5_Intron			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	651							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCCCAGTTCGGAATGGTTAGG	0.493000													28	41					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36700148	36700148	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:36700148G>A	ENST00000216181.5	-	19	2513	c.2283C>T	c.(2281-2283)gtC>gtT	p.V761V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	761	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						CACGGAAGAAGACTTTGCTCT	0.602000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				20	35					0	0	1	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095438	107095438	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:107095438G>A	ENST00000390630.2	-	0	147																											GGACCCCTGTGAACAGAGAGA	0.632000													15	13					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117079532	117079532	+	Silent	SNP	G	G	A	rs142579121		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:117079532G>A	ENST00000262820.3	-	2	1014	c.105C>T	c.(103-105)ctC>ctT	p.L35L	KLHL13_ENST00000540167.1_Silent_p.L19L|KLHL13_ENST00000469946.1_5'UTR|KLHL13_ENST00000371876.1_5'UTR|KLHL13_ENST00000371882.1_5'UTR|KLHL13_ENST00000545703.1_5'UTR|KLHL13_ENST00000539496.1_Silent_p.L38L|KLHL13_ENST00000541812.1_Silent_p.L19L|KLHL13_ENST00000371878.1_5'UTR	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	35					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCTCTTCCACGAGAGATCTGA	0.388000													11	5					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857370	68857370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:68857370C>T	ENST00000361320.4	+	3	2140	c.1562C>T	c.(1561-1563)aCc>aTc	p.T521I	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	521						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AATGTGTCAACCTTTCTGGCA	0.398000													17	29					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118950331	118950331	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:118950331G>A	ENST00000328252.3	+	2	1683	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	438	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACGACGGCGGGGATTGCCGCC	0.597000													13	19					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45353240	45353240	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:45353240C>T	ENST00000303230.4	-	5	1396	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	447						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGAATATTTTCCTCATCAAAG	0.343000													22	46					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792714	131792714	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:131792714G>A	ENST00000286355.5	-	18	5770	c.3678C>T	c.(3676-3678)aaC>aaT	p.N1226N	ADCY8_ENST00000377928.3_Silent_p.N1095N	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1226					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGTCCGCCGGTTGTAATGAC	0.498000										HNSCC(32;0.087)			25	97					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5010977	5010977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:5010977G>A	ENST00000380390.1	+	3	415	c.199G>A	c.(199-201)Gac>Aac	p.D67N	MMP26_ENST00000300762.1_Missense_Mutation_p.D67N|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	67					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAATGGGACAGACCTACTTGA	0.532000													15	33					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141755423	141755423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:141755423C>T	ENST00000475668.2	+	28	3434	c.3380C>T	c.(3379-3381)cCc>cTc	p.P1127L	MGAM_ENST00000549489.2_Missense_Mutation_p.P1127L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1127	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACCCGCCTTCCCTCCAAGTAC	0.507000													35	54					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101443558	101443558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:101443558G>A	ENST00000341893.3	+	1	790	c.38G>A	c.(37-39)gGa>gAa	p.G13E	CEP97_ENST00000494050.1_Missense_Mutation_p.G13E|CEP97_ENST00000327230.4_Missense_Mutation_p.G13E			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	13						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						TTGCCTCCCGGAGAAGGTAAG	0.532000													33	34					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429947	57429947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:57429947C>T	ENST00000371100.4	+	1	2179	c.1627C>T	c.(1627-1629)Ccg>Tcg	p.P543S	GNAS_ENST00000371099.2_Missense_Mutation_p.P543S|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.L479L|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.P543S|GNAS_ENST00000603534.1_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCCGCCTACTCCGCGGCCTAC	0.711000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	2					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024197	9024197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9024197G>A	ENST00000397910.4	-	18	37278	c.37075C>T	c.(37075-37077)Cct>Tct	p.P12359S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12361					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						GAGGTCCCAGGAGCTGAGGAA	0.483000													8	15					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127414390	127414390	+	Missense_Mutation	SNP	C	C	T	rs149421957		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:127414390C>T	ENST00000337623.3	+	6	880	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S	C10orf137_ENST00000356792.4_Missense_Mutation_p.P259S	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTCTGAAGATCCCAGTGCTTC	0.408000													14	19					0	0	1	0	0
TPRA1	131601	broad.mit.edu	37	3	127292608	127292608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:127292608G>A	ENST00000355552.3	-	11	1254	c.878C>T	c.(877-879)tCc>tTc	p.S293F	TPRA1_ENST00000450633.2_Missense_Mutation_p.S293F|TPRA1_ENST00000296210.7_Silent_p.L238L|TPRA1_ENST00000489960.1_Missense_Mutation_p.S293F	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	293					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GCATTTGTAGGAGAAGAGGAT	0.597000													10	40					0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139394	142139394	+	RNA	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142139394T>C	ENST00000390374.3	-	0	275																											TGGGCAGCCCTGATTTGTCTT	0.547000													32	54					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143018507	143018507	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:143018507C>T	ENST00000343257.2	+	4	570	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	161			F -> V (in THD and MCR).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCTGCAGTTCCTGGTCTGGG	0.592000													23	52					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100459389	100459389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:100459389C>T	ENST00000354161.3	+	12	1692	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	SLC12A9_ENST00000428758.1_Missense_Mutation_p.R523W|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R434W|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R523W|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R434W	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	523						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCTGGACGTCCGGAAGGATCA	0.632000													37	77					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573631	140573631	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140573631C>T	ENST00000239446.4	+	1	1690	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCGCCTCCCTGGTCTCCA	0.677000													62	168					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77286749	77286749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:77286749G>A	ENST00000376896.2	+	9	1768	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	RORB_ENST00000396204.2_Missense_Mutation_p.E397K	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	397	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GAAGCTTCAGGAAAAAATTTA	0.448000													11	24					0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21415039	21415039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:21415039C>T	ENST00000534331.1	-	2	231	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Missense_Mutation_p.E51K|C10orf113_ENST00000529198.1_Silent_p.Q72Q	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	61										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						GCTCTCCGTTCTGCCTTACCA	0.537000													25	58					0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32072956	32072956	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:32072956G>A	ENST00000397493.2	-	9	6420	c.6228C>T	c.(6226-6228)ttC>ttT	p.F2076F				Q5THK1	PR14L_HUMAN	proline rich 14-like	2076										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CGAATACCAGGAAGTGCCCGG	0.592000													10	15					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62676102	62676102	+	Silent	SNP	C	C	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:62676102C>A	ENST00000498273.1	+	4	1951	c.1656C>A	c.(1654-1656)acC>acA	p.T552T		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	552										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CCTGTCTGACCTTATGTTTGG	0.453000													52	41					2.41709e-19	2.44182e-19	1	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57868238	57868238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:57868238C>T	ENST00000393797.2	-	18	2213	c.2021G>A	c.(2020-2022)gGg>gAg	p.G674E	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.G584E|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.G603E|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.G663E|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.G584E|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.G400E			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	603	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CACATACCTCCCATCGGAGGT	0.512000													15	21					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309759	24309759	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:24309759G>A	ENST00000357002.4	+	4	1072	c.957G>A	c.(955-957)aaG>aaA	p.K319K	ZNF254_ENST00000342944.6_Silent_p.K234K	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	319					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATACTAGAAAGAAACCCTACA	0.388000													24	26					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108034182	108034182	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:108034182C>T	ENST00000280758.5	+	13	3360	c.2832C>T	c.(2830-2832)gcC>gcT	p.A944A	BTBD11_ENST00000494235.2_Silent_p.A23A|BTBD11_ENST00000490090.2_Silent_p.A944A|BTBD11_ENST00000420571.2_Silent_p.A825A|BTBD11_ENST00000357167.4_Silent_p.A481A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	944	BTB.					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						TATTTACAGCCTCTCCAAGGT	0.373000													20	36					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534016	55534016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:55534016C>T	ENST00000220676.1	+	2	638	c.490C>T	c.(490-492)Ccg>Tcg	p.P164S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	164	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAATGGCGACCCGAAGACGAG	0.657000													66	75					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6515303	6515303	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:6515303T>C	ENST00000361413.3	-	8	1839	c.1481A>G	c.(1480-1482)aAg>aGg	p.K494R	KIAA0753_ENST00000542606.1_Missense_Mutation_p.K195R|KIAA0753_ENST00000572370.1_Missense_Mutation_p.K195R|KIAA0753_ENST00000589033.1_Intron	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	494						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CACAGGCTTCTTTTTCCCTGC	0.443000													3	183					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196397261	196397261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:196397261C>T	ENST00000367433.5	-	10	1059	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.E320K|KCNT2_ENST00000294725.8_Missense_Mutation_p.E320K|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	320						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCATAGAATTCATTTAAAAAA	0.373000													16	40					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162849873	162849873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:162849873C>T	ENST00000360534.3	-	26	2781	c.2221G>A	c.(2221-2223)Gga>Aga	p.G741R		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	741					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	CTAGCTATTCCATGGTCTTCA	0.353000													45	65					0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131565650	131565650	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:131565650A>G	ENST00000372648.5	+	8	815	c.665A>G	c.(664-666)aAc>aGc	p.N222S	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_Missense_Mutation_p.N41S|TBC1D13_ENST00000223865.8_Intron	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	222	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						GCCAAGCTCAACCCTGGCATC	0.542000													18	48					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102965595	102965595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:102965595G>A	ENST00000233954.1	+	10	1445	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	392	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATCCAGTACAGATGGGGCCAG	0.388000													34	56					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815664	106815664	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:106815664G>A	ENST00000407775.2	+	8	3604	c.3354G>A	c.(3352-3354)ggG>ggA	p.G1118G	ZFPM2_ENST00000520492.1_Silent_p.G986G|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.G849G|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Silent_p.G986G|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1118					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAACCAGTGGGAAATATTGCC	0.428000													17	17					0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3019299	3019299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:3019299C>T	ENST00000262953.6	-	7	794	c.532G>A	c.(532-534)Gag>Aag	p.E178K	TLE2_ENST00000443826.3_Intron|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Intron|TLE2_ENST00000426948.2_Missense_Mutation_p.E192K|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000590536.1_Missense_Mutation_p.E179K|TLE2_ENST00000591529.1_Missense_Mutation_p.E192K	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	178	Gly/Pro-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCGGCCTCCACGCCCGCA	0.697000													3	8					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10802154	10802154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:10802154C>T	ENST00000313243.2	-	8	1184	c.802G>A	c.(802-804)Gat>Aat	p.D268N	MAK_ENST00000538030.1_Missense_Mutation_p.D268N|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000536370.1_Missense_Mutation_p.D268N|MAK_ENST00000474039.1_Missense_Mutation_p.D268N|MAK_ENST00000354489.2_Missense_Mutation_p.D268N|RP11-637O19.3_ENST00000480294.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	268	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTCTTTGGATCCCAATTCAAC	0.388000											OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	82					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121650527	121650527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:121650527C>T	ENST00000489711.1	+	19	2094	c.1706C>T	c.(1705-1707)tCt>tTt	p.S569F	SLC15A2_ENST00000295605.2_Missense_Mutation_p.S538F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	569					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.S569Y(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AAGAACTTTTCTCTGAATTTG	0.388000													14	19					0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22777493	22777493	+	Silent	SNP	C	C	T	rs139683102		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:22777493C>T	ENST00000454584.2	+	7	1022	c.717C>T	c.(715-717)ttC>ttT	p.F239F	GAS2_ENST00000278187.3_Silent_p.F239F|GAS2_ENST00000433790.1_Silent_p.F239F	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	239	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AGATCCTCTTCATTAGGGTAA	0.398000													14	13					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048784	42048784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:42048784G>A	ENST00000372584.1	-	3	2699	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	HIVEP3_ENST00000247584.5_Missense_Mutation_p.S562F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S562F|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S562F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	562	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTCATCGAAGGAGTAGCTACC	0.612000													50	39					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968179	35968179	+	Missense_Mutation	SNP	G	G	A	rs142049781	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:35968179G>A	ENST00000274278.3	-	3	610	c.253C>T	c.(253-255)Cat>Tat	p.H85Y	UGT3A1_ENST00000507113.1_Missense_Mutation_p.H51Y|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.H31Y|UGT3A1_ENST00000503189.1_Missense_Mutation_p.H85Y	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	85						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTTTTTGATGATCTTCAGGT	0.308000													11	44					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133333923	133333923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:133333923G>A	ENST00000372394.1	+	5	791	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	ASS1_ENST00000372393.3_Missense_Mutation_p.E104K|ASS1_ENST00000352480.5_Missense_Mutation_p.E104K			P00966	ASSY_HUMAN	argininosuccinate synthase 1	104					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CAAACAAGTGGAAATCGCCCA	0.657000													7	15					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8160318	8160318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:8160318G>A	ENST00000600128.1	-	46	6140	c.5726C>T	c.(5725-5727)tCc>tTc	p.S1909F	FBN3_ENST00000601739.1_Missense_Mutation_p.S1909F|FBN3_ENST00000270509.2_Missense_Mutation_p.S1909F			Q75N90	FBN3_HUMAN	fibrillin 3	1909	EGF-like 30; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGTGGAAGGAACCAGCTGT	0.572000													16	42					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31799781	31799781	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:31799781C>T	ENST00000438447.1	+	2	814	c.426C>T	c.(424-426)atC>atT	p.I142I	PDZD2_ENST00000282493.3_Silent_p.I142I			O15018	PDZD2_HUMAN	PDZ domain containing 2	142	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGATGAGATCCTCTCACTGA	0.602000													20	192					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23518256	23518256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:23518256G>A	ENST00000397359.3	-	12	2199	c.1940C>T	c.(1939-1941)aCc>aTc	p.T647I	CDH24_ENST00000267383.5_Missense_Mutation_p.T647I|CDH24_ENST00000554034.1_Missense_Mutation_p.T609I|CDH24_ENST00000487137.2_Missense_Mutation_p.T609I|CDH24_ENST00000485922.1_5'UTR	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	647					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ACCCACACAGGTGATGATGGC	0.642000													6	38					0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111066588	111066588	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:111066588C>T	ENST00000551590.1	+	4	645	c.489C>T	c.(487-489)tcC>tcT	p.S163S	TCTN1_ENST00000397655.3_Silent_p.S163S|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000550703.2_Silent_p.S163S|TCTN1_ENST00000397659.4_Silent_p.S163S|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_5'UTR			Q2MV58	TECT1_HUMAN	tectonic family member 1	163					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						CTGCATTATCCTTTATTAATC	0.259000													13	19					0	0	1	0	0
ZNF805	390980	broad.mit.edu	37	19	57764906	57764906	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:57764906T>A	ENST00000535550.1	+	4	816	c.320T>A	c.(319-321)tTt>tAt	p.F107Y	ZNF805_ENST00000414468.2_Missense_Mutation_p.F240Y|ZNF805_ENST00000354309.4_Missense_Mutation_p.F107Y	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						GGAAAAACCTTTAGCAAGAGT	0.478000													4	11					0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92568110	92568110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:92568110C>T	ENST00000370382.3	+	3	695	c.428C>T	c.(427-429)tCa>tTa	p.S143L	BTBD8_ENST00000540648.1_Missense_Mutation_p.S143L|BTBD8_ENST00000342818.3_Missense_Mutation_p.S143L			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	143						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATTGGGATATCACAAAAGCAA	0.308000													38	23					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50452571	50452571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:50452571G>A	ENST00000228468.4	+	2	407	c.22G>A	c.(22-24)Gag>Aag	p.E8K	ASIC1_ENST00000447966.2_Missense_Mutation_p.E8K	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	8					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GGCCGAGGAGGAGGAGGTGGG	0.617000													21	45					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37425564	37425564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:37425564G>A	ENST00000374660.1	+	6	716	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R206Q|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R206Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	262						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						GAATATATACGAAAATTATCT	0.269000													5	12					0	0	1	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052751	33052751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:33052751C>T	ENST00000418931.2	+	3	505	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	130	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						AATGTTTCCCCCTCCAAGAAG	0.493000													72	99					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52484400	52484400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:52484400G>A	ENST00000219746.9	-	4	751	c.467C>T	c.(466-468)tCc>tTc	p.S156F	TOX3_ENST00000407228.3_Missense_Mutation_p.S151F	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	156					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTGGACGATGGACCGCATGAT	0.557000													40	63					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587418	42587418	+	Missense_Mutation	SNP	G	G	A	rs144578245	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:42587418G>A	ENST00000289957.2	+	5	1096	c.968G>A	c.(967-969)aGa>aAa	p.R323K		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	323					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTTCACCACAGATCTTCTTCC	0.448000													98	100					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54841844	54841844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:54841844G>A	ENST00000545554.1	+	27	5832	c.5832G>A	c.(5830-5832)atG>atA	p.M1944I	UNC13C_ENST00000537900.1_Missense_Mutation_p.M1942I|UNC13C_ENST00000260323.11_Missense_Mutation_p.M1944I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1944	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GACCCCAGATGATTTTCATTG	0.318000													28	45					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999070	46999070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:46999070G>A	ENST00000374314.4	+	1	1145	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	GPRIN2_ENST00000374317.1_Missense_Mutation_p.E64K			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	64										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGCCCCGGAGGAAGAGGGGAA	0.692000													10	54					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13399547	13399547	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:13399547C>T	ENST00000284110.1	-	2	1985	c.1188G>A	c.(1186-1188)caG>caA	p.Q396Q	HS3ST3A1_ENST00000578576.1_Silent_p.Q194Q	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	396						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCCCGGTCATCTGGTAGAACT	0.463000													29	68					0	0	1	0	0
FKBP3	2287	broad.mit.edu	37	14	45603623	45603623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:45603623C>T	ENST00000216330.3	-	2	447	c.37G>A	c.(37-39)Gag>Aag	p.E13K	FKBP3_ENST00000396062.3_Missense_Mutation_p.E13K			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	13					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CGCAGCTGCTCCACGGTCCAC	0.662000													23	41					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396923	154396923	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:154396923C>T	ENST00000435029.4	+	1	3664	c.3504C>T	c.(3502-3504)atC>atT	p.I1168I		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1168	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATAGCAAGATCCTGAAAGAGA	0.527000													48	42					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25886748	25886748	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:25886748G>A	ENST00000376351.3	+	11	2552	c.2193G>A	c.(2191-2193)aaG>aaA	p.K731K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	731						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						ATAAAAGAAAGAAGATGATCA	0.438000													38	63					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291225	62291225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:62291225G>A	ENST00000378024.4	-	5	10938	c.10664C>T	c.(10663-10665)cCc>cTc	p.P3555L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3555					nervous system development	nucleus	protein binding			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)				TTTCACCTTGGGGCCTTTCAA	0.468000													67	180					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47556881	47556881	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:47556881C>T	ENST00000397748.1	-	14	1669	c.1626G>A	c.(1624-1626)ccG>ccA	p.P542P	FTCD_ENST00000359679.2_Silent_p.P542P|FTCD_ENST00000498355.2_Intron|FTCD_ENST00000355384.2_Intron|FTCD_ENST00000397746.3_3'UTR|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000291670.5_Intron			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	49					folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCACAGAGCCCGGAGAGGCCT	0.677000													4	17					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313965	54313965	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:54313965C>T	ENST00000324134.6	-	3	1116	c.948G>A	c.(946-948)gaG>gaA	p.E316E	NLRP12_ENST00000391775.3_Silent_p.E316E|NLRP12_ENST00000535162.1_Silent_p.E316E|NLRP12_ENST00000351894.4_Silent_p.E316E|NLRP12_ENST00000391773.1_Silent_p.E316E|NLRP12_ENST00000391772.1_Silent_p.E316E|NLRP12_ENST00000354278.3_Silent_p.E316E|NLRP12_ENST00000345770.5_Silent_p.E316E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	316	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGGGCCGTTTCTCCTCCCAGC	0.567000													9	26					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7660446	7660446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:7660446G>A	ENST00000572933.1	+	13	3402	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E648K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	648	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGACTACTGGGAGCGGCTGCT	0.542000													91	247					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198468	20198468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:20198468C>T	ENST00000400331.5	-	5	1824	c.1516G>A	c.(1516-1518)Gat>Aat	p.D506N	MACC1_ENST00000332878.4_Missense_Mutation_p.D506N|MACC1_ENST00000589011.1_Missense_Mutation_p.D506N	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	506					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GGGGTTGGATCAGGAGTAGTG	0.418000													37	60					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100175351	100175351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:100175351G>A	ENST00000310300.6	-	9	1104	c.1052C>T	c.(1051-1053)cCt>cTt	p.P351L	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	351					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATCTGCACAGGGTCTCCGTC	0.657000													40	90					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34546782	34546782	+	Silent	SNP	G	G	A	rs146726039		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:34546782G>A	ENST00000354181.3	-	9	1377	c.885C>T	c.(883-885)atC>atT	p.I295I	SLC12A6_ENST00000397702.2_Silent_p.I236I|SLC12A6_ENST00000560611.1_Silent_p.I295I|SLC12A6_ENST00000558589.1_Silent_p.I286I|SLC12A6_ENST00000558667.1_Silent_p.I295I|SLC12A6_ENST00000458406.2_Silent_p.I236I|SLC12A6_ENST00000397707.2_Silent_p.I280I|SLC12A6_ENST00000290209.5_Silent_p.I244I|SLC12A6_ENST00000560164.1_Silent_p.I107I|SLC12A6_ENST00000451844.2_Silent_p.I107I			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	295					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTCGGGGGACGATATAGACCT	0.383000													10	26					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115966074	115966074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:115966074G>A	ENST00000251864.2	+	11	1522	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	TDRD1_ENST00000422662.1_Missense_Mutation_p.E118K|TDRD1_ENST00000369280.1_Missense_Mutation_p.E457K|TDRD1_ENST00000369282.1_Missense_Mutation_p.E457K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E457K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	457					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTCTAAGAAGGAAAATGCAGA	0.363000													11	21					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15537690	15537690	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:15537690T>C	ENST00000344577.2	-	6	843	c.818A>G	c.(817-819)aAc>aGc	p.N273S	LIPI_ENST00000536861.1_Missense_Mutation_p.N252S	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	252					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCTCTGGTGGTTGCATTTAAT	0.308000													16	22					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130445	34130445	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:34130445C>T	ENST00000389232.4	+	89	12334	c.12264C>T	c.(12262-12264)ttC>ttT	p.F4088F	RYR3_ENST00000415757.3_Silent_p.F4083F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4088					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)		TTGTGAACTTCTGTGAGGACA	0.453000													29	61					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761854	96761854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:96761854G>A	ENST00000295266.4	+	1	616	c.553G>A	c.(553-555)Gat>Aat	p.D185N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	185					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TAAAGGAAACGATGAGATCTG	0.483000													43	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577951	179577951	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:179577951C>T	ENST00000589042.1	-	93	27134	c.26910G>A	c.(26908-26910)agG>agA	p.R8970R	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.R7726R|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.R8653R|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8653	Ig-like 72.						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)			TCTGGTATTTCCTTCCACTAC	0.438000													6	9					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109544854	109544854	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:109544854G>A	ENST00000357672.3	-	6	1716	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	WDR47_ENST00000369965.4_Silent_p.F476F|WDR47_ENST00000369962.3_Silent_p.F475F|WDR47_ENST00000361054.3_Silent_p.F447F|WDR47_ENST00000400794.3_Silent_p.F483F			O94967	WDR47_HUMAN	WD repeat domain 47	475	Gln-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ACCTATTAAGGAACTGTTCAG	0.378000													50	160					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751676	19751676	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:19751676G>A	ENST00000400113.3	-	4	551	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	149					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCAGAGATGCGAACCCAGAGC	0.567000													69	56					0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79498805	79498805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:79498805G>A	ENST00000507668.2	-	2	245	c.95C>T	c.(94-96)tCc>tTc	p.S32F	SERINC5_ENST00000512972.2_Missense_Mutation_p.S32F|SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000512721.1_Missense_Mutation_p.S32F|SERINC5_ENST00000509193.1_Missense_Mutation_p.S32F	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	32					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGTGCTGAGGGACTGCCGAAT	0.552000													7	27					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117248222	117248222	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:117248222C>T	ENST00000332958.2	+	17	1934	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	640					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGCTGGTCATCTGATGACACC	0.463000													80	30					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993339	140993339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:140993339C>T	ENST00000285879.4	+	4	435	c.149C>T	c.(148-150)cCt>cTt	p.P50L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	50							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTGTATCCTCTCCAGAGT	0.587000										HNSCC(15;0.026)			41	15					0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100173997	100173997	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:100173997C>T	ENST00000554176.1	+	2	882	c.216C>T	c.(214-216)tcC>tcT	p.S72S	CYP46A1_ENST00000261835.3_Silent_p.S225S|CYP46A1_ENST00000423126.2_Silent_p.S128S			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	225					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TCACTGCGTCCCGCAACACTC	0.547000													26	44					0	0	1	0	0
ZNF286A	57335	broad.mit.edu	37	17	15604484	15604484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:15604484C>T	ENST00000464847.2	+	2	609	c.56C>T	c.(55-57)tCt>tTt	p.S19F	ZNF286A_ENST00000472486.1_Missense_Mutation_p.S9F|ZNF286A_ENST00000581529.1_Missense_Mutation_p.S9F|ZNF286A_ENST00000580259.1_Missense_Mutation_p.S19F|ZNF286A_ENST00000421016.1_Missense_Mutation_p.S19F|ZNF286A_ENST00000413242.2_Missense_Mutation_p.S19F|ZNF286A_ENST00000395893.2_Missense_Mutation_p.S19F|ZNF286A_ENST00000395894.2_Missense_Mutation_p.S19F|ZNF286A_ENST00000593105.1_Missense_Mutation_p.S9F|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000585194.1_Missense_Mutation_p.S19F|ZNF286A_ENST00000583566.1_Missense_Mutation_p.S19F			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TCCCAGGATTCTCCCCATTTC	0.473000													73	368					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71354263	71354263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:71354263C>T	ENST00000392650.3	-	40	5548	c.5548G>A	c.(5548-5550)Ggc>Agc	p.G1850S	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.G1831S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1850	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGCCCTTTGCCCGGGTCTCCG	0.647000													90	98					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506871	155506871	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:155506871G>A	ENST00000302053.3	-	5	1788	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	FGA_ENST00000403106.3_Silent_p.F570F	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	570					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CACGGGAAGGGAATTCAGCTA	0.428000													36	39					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39984649	39984649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:39984649C>T	ENST00000373257.3	+	14	1869	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	593	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TACAAGAAGTCCCTCCGCCTC	0.587000													21	84					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84183923	84183923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:84183923G>A	ENST00000378553.5	+	3	452	c.328G>A	c.(328-330)Gat>Aat	p.D110N	DNAAF1_ENST00000334315.5_Missense_Mutation_p.D110N	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	110			Missing (in CILD13).		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGCATTGAATGATACGCTGTA	0.368000													18	28					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	87917311	87917311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:87917311G>A	ENST00000518476.1	+	3	212	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	54										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTTTTAAGCCGGAGTATGAGC	0.323000													8	9					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3007670	3007670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:3007670G>A	ENST00000381127.1	+	7	1185	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	ARSF_ENST00000537104.1_Missense_Mutation_p.V322M|ARSF_ENST00000359361.2_Missense_Mutation_p.V322M	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	322						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGACTCCATGGTGGGTAAGTC	0.488000													19	10					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62557655	62557655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:62557655G>A	ENST00000262435.9	-	12	1466	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	SMURF2_ENST00000578200.1_5'UTR	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	427	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TCTTCTCCACGAAATTTTATC	0.363000													18	25					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881280	108881280	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:108881280G>A	ENST00000329106.2	+	6	621		c.e6-1			NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3							cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TCCACATACAGGACCCAAAGC	0.393000													7	21					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87591092	87591092	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:87591092C>T	ENST00000320005.5	-	17	1976		c.e17-1			NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3						signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TAAAAGCACTCTGTGGGTAAG	0.423000													14	39					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101771168	101771168	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:101771168A>T	ENST00000334289.3	-	7	1249	c.654T>A	c.(652-654)gaT>gaA	p.D218E		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	218	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AACCTAGAAGATCTCCAAATC	0.348000													16	67					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250759	35250759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:35250759C>T	ENST00000329285.7	-	4	1320	c.947G>A	c.(946-948)tGt>tAt	p.C316Y		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGCTTTCCCACATTCTTTGCA	0.413000													22	31					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219886908	219886908	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:219886908G>A	ENST00000341552.5	-	17	3047	c.2964C>T	c.(2962-2964)ctC>ctT	p.L988L	CCDC108_ENST00000453220.1_Silent_p.L988L|CCDC108_ENST00000441968.1_Silent_p.L988L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	988						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGCTGGTGAGCCCAACGC	0.677000													4	4					0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132939105	132939105	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:132939105G>A	ENST00000275191.2	-	1	212	c.105C>T	c.(103-105)ttC>ttT	p.F35F	TAAR2_ENST00000367931.1_Silent_p.F80F|TAAR2_ENST00000537809.1_Silent_p.F35F	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	80						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGAGGATGAGGAAGTTGGTTG	0.423000													69	31					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98348837	98348837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:98348837G>A	ENST00000370192.3	-	2	233	c.133C>T	c.(133-135)Cct>Tct	p.P45S	DPYD_ENST00000306031.5_Missense_Mutation_p.P45S|DPYD_ENST00000423006.2_Intron	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	45					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCTTATCAGGATTTCTTTTC	0.373000													17	21					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629394	1629394	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:1629394C>T	ENST00000399685.1	-	1	299	c.222G>A	c.(220-222)aaG>aaA	p.K74K		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	74	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CACAGCCCCCCTTGCAGCCCC	0.677000													88	94					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21396374	21396374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:21396374G>A	ENST00000400602.2	-	8	930	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F	XPO4_ENST00000255305.6_Missense_Mutation_p.L299F	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	299					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AACTGGGCAAGGCACTGCAGA	0.373000													54	48					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452990	138452990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:138452990C>T	ENST00000344876.4	-	1	639	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E85K|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	85	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATGCTGATTTCCCCATTATCC	0.433000													54	162					0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33230221	33230221	+	Silent	SNP	A	A	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:33230221A>G	ENST00000327671.5	-	5	1945	c.1314T>C	c.(1312-1314)tcT>tcC	p.S438S	FUT10_ENST00000518672.1_Silent_p.S410S|FUT10_ENST00000524021.1_Silent_p.S410S	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	438					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCTCTCGCAAAGAGCTCAAAG	0.488000													30	22					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55639005	55639005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:55639005C>T	ENST00000370830.3	-	4	1567	c.869G>A	c.(868-870)gGa>gAa	p.G290E	BMP5_ENST00000446683.2_Missense_Mutation_p.G290E	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	290					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCCTGTCTTCCCACAAGACC	0.423000													33	46					0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062051	66062051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:66062051C>T	ENST00000327259.4	+	2	478	c.334C>T	c.(334-336)Ctc>Ttc	p.L112F		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	112						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CCTCTACCTCCTCTACCTGGC	0.721000													21	24					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106907399	106907399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:106907399G>A	ENST00000369701.3	+	9	1554	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	443						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)		CAGTACAGACGAGAACCAAGT	0.473000													13	40					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135372429	135372429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:135372429C>T	ENST00000368517.3	-	4	253	c.115G>A	c.(115-117)Gga>Aga	p.G39R	SYCE1_ENST00000432597.2_Missense_Mutation_p.G39R|SYCE1_ENST00000343131.5_Missense_Mutation_p.G75R|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	75					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CGGGCCTCTCCTAGGTCTTTA	0.517000													17	17					0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22770718	22770718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:22770718G>A	ENST00000454584.2	+	6	831	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	GAS2_ENST00000278187.3_Missense_Mutation_p.E176K|GAS2_ENST00000433790.1_Missense_Mutation_p.E176K	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	176					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GATTGAACAAGAAGAAACACT	0.378000													17	16					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47569952	47569952	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:47569952G>A	ENST00000253048.5	-	15	3610	c.3573C>T	c.(3571-3573)gtC>gtT	p.V1191V	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1191							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CAGACTTGCGGACGAACGGGG	0.662000													5	17					0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050768	110050768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:110050768G>A	ENST00000369864.4	-	2	1116	c.767C>T	c.(766-768)tCc>tTc	p.S256F	AMIGO1_ENST00000369862.1_Missense_Mutation_p.S256F			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	256	LRRCT.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CAGCTTCTTGGAGTTCATGCA	0.527000													32	89					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825844	146825844	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:146825844C>T	ENST00000361727.3	+	7	1515	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	333	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GAAAGAATTTCAAAGGCTGCA	0.413000										HNSCC(39;0.1)			26	59					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30747894	30747894	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:30747894C>T	ENST00000262518.4	+	33	7342	c.6957C>T	c.(6955-6957)ttC>ttT	p.F2319F	SRCAP_ENST00000395059.2_Silent_p.F2257F|SRCAP_ENST00000344771.4_Silent_p.F2161F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2319	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCATGAAATTCCTGGAGGCCT	0.542000													12	22					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77317924	77317924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:77317924G>A	ENST00000282849.5	-	23	4013	c.3595C>T	c.(3595-3597)Cct>Tct	p.P1199S	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1199	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCATGCTGAGGAACTAGGTGA	0.433000													30	58					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599687	29599687	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:29599687G>A	ENST00000431530.3	+	1	940	c.882G>A	c.(880-882)ctG>ctA	p.L294L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	284						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCCTGCTCTGAATTTGACTT	0.517000													9	23					0	0	1	0	0
TRAV6	6956	broad.mit.edu	37	14	22237230	22237230	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:22237230G>A	ENST00000390428.3	+	0	314																											AAGACTGAAGGTCACCTTTGA	0.448000													30	69					0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223559162	223559162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:223559162G>A	ENST00000446656.3	+	4	560	c.560G>A	c.(559-561)gGg>gAg	p.G187E		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	187					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		ATTGTCCTTGGGGGTGCAAAA	0.443000													17	26					0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276950	71276950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:71276950C>T	ENST00000398531.1	+	1	342	c.317C>T	c.(316-318)tCt>tTt	p.S106F	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	106	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						GGCTGTGGTTCTTGTGGGGGC	0.677000													76	81					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35792540	35792540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:35792540C>T	ENST00000440995.2	+	31	4531	c.4531C>T	c.(4531-4533)Caa>Taa	p.Q1511*	SPEF2_ENST00000356031.3_Nonsense_Mutation_p.Q1516*|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Nonsense_Mutation_p.Q313*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1516					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCACCTTACCCAACCTGAAGT	0.353000													26	121					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167223193	167223193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:167223193G>A	ENST00000308378.3	-	13	2035	c.1730C>T	c.(1729-1731)tCa>tTa	p.S577L	WDR49_ENST00000476376.1_Missense_Mutation_p.S402L|WDR49_ENST00000453925.2_Missense_Mutation_p.S542L|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	577										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TATATCTTCTGATGGTCTGAC	0.294000													26	28					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2910139	2910139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:2910139C>T	ENST00000520002.1	-	51	8063	c.7508G>A	c.(7507-7509)gGa>gAa	p.G2503E	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2503E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2503E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2503E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2502E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2502E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2503	Sushi 15.					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)		TGAACCGTTTCCTGGGGATTC	0.418000													7	14					0	0	1	0	0
UTS2	10911	broad.mit.edu	37	1	7907881	7907881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:7907881C>T	ENST00000377516.2	-	5	640	c.320G>A	c.(319-321)tGg>tAg	p.W107*	UTS2_ENST00000054668.5_Nonsense_Mutation_p.W122*|UTS2_ENST00000361696.5_Nonsense_Mutation_p.W107*			O95399	UTS2_HUMAN	urotensin 2	107					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		GTATGGTTTCCAGATTCTGGC	0.378000													46	28					0	0	1	0	0
DYNAP	284254	broad.mit.edu	37	18	52262207	52262207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:52262207C>T	ENST00000321600.1	+	2	219	c.173C>T	c.(172-174)tCc>tTc	p.S58F	DYNAP_ENST00000585973.1_Intron	NM_173629.1	NP_775900.1			dynactin associated protein																		GCTCACAGTTCCATATGCTGG	0.453000													44	66					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390564	158390564	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:158390564G>A	ENST00000314902.2	-	1	92	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	31					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)					AGAGGAGCAGGAAGATAACAA	0.527000													39	20					0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32745691	32745691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:32745691C>T	ENST00000333070.4	+	12	1397	c.1297C>T	c.(1297-1299)Ccc>Tcc	p.P433S	LCK_ENST00000336890.5_Missense_Mutation_p.P403S|LCK_ENST00000373564.3_Missense_Mutation_p.P410S	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	403	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	p.P403S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GGCCAAGTTTCCCATTAAGTG	0.547000			T	TRB@	T-ALL								27	17					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	633614	633614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:633614C>T	ENST00000026218.5	+	10	2351	c.2263C>T	c.(2263-2265)Cct>Tct	p.P755S	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	755					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCGGATGTTCCCTGGAGAGGT	0.647000													36	55					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10861488	10861488	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:10861488C>T	ENST00000254488.2	+	3	549	c.483C>T	c.(481-483)tgC>tgT	p.C161C	SLC6A11_ENST00000454147.1_Silent_p.C161C	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	161					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TGAGCAACTGCTTCACTACTG	0.532000													37	118					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628285	71628285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:71628285C>T	ENST00000377276.2	-	1	754	c.724G>A	c.(724-726)Gac>Aac	p.D242N		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	242	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATGGGCTGGTCGGCGTAGAAG	0.592000													42	49					0	0	1	0	0
PDZK1	5174	broad.mit.edu	37	1	145761346	145761346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:145761346G>A	ENST00000344770.2	+	7	1232	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	PDZK1_ENST00000451928.2_Missense_Mutation_p.G276S|PDZK1_ENST00000417171.1_Missense_Mutation_p.G387S	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	387	PDZ 4.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			AGGTGAAAATGGCTATGGCTT	0.473000													22	72					0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23612379	23612379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:23612379G>A	ENST00000415083.2	-	10	1269	c.1214C>T	c.(1213-1215)cCt>cTt	p.P405L	SS18_ENST00000542420.2_Missense_Mutation_p.P382L|SS18_ENST00000539849.1_Missense_Mutation_p.P323L|SS18_ENST00000269137.7_Missense_Mutation_p.P374L|SS18_ENST00000545952.1_Missense_Mutation_p.P322L|SS18_ENST00000542743.1_Missense_Mutation_p.P322L	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	405	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					ATATCCATAAGGCCTCTGCTG	0.458000			T	"""SSX1,  SSX2"""	synovial sarcoma								43	79					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7716939	7716939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:7716939C>T	ENST00000507866.2	+	17	2262	c.2153C>T	c.(2152-2154)tCa>tTa	p.S718L	SORCS2_ENST00000329016.9_Missense_Mutation_p.S546L	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	718						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCCTCCTCCTCAGAGTCCAGC	0.602000													87	86					0	0	1	0	0
QPCTL	54814	broad.mit.edu	37	19	46205096	46205096	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:46205096C>T	ENST00000012049.5	+	6	1148	c.927C>T	c.(925-927)ccC>ccT	p.P309P	QPCTL_ENST00000366382.4_Silent_p.P215P	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	309					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		AGTCTCATCCCCAGGAAGTGA	0.577000													18	46					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842093	5842093	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:5842093C>T	ENST00000317037.2	+	1	550	c.528C>T	c.(526-528)atC>atT	p.I176I	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAACTTCATCCCCCACACCT	0.517000													88	75					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26866489	26866489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:26866489G>A	ENST00000541819.2	-	5	703	c.601C>T	c.(601-603)Cct>Tct	p.P201S	GABRB3_ENST00000311550.5_Missense_Mutation_p.P145S|GABRB3_ENST00000299267.4_Missense_Mutation_p.P145S|GABRB3_ENST00000400188.3_Missense_Mutation_p.P74S|GABRB3_ENST00000545868.1_Missense_Mutation_p.P60S			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	145					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)	GTCCCATCAGGGTGAAGACGG	0.473000													41	87					0	0	1	0	0
APOD	347	broad.mit.edu	37	3	195298153	195298153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:195298153G>A	ENST00000343267.3	-	4	690	c.329C>T	c.(328-330)tCc>tTc	p.S110F		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	110					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTTACACCAGGAAAACTTAAC	0.483000													77	75					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40613801	40613801	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:40613801G>A	ENST00000589109.1	-	2	306	c.135C>T	c.(133-135)ttC>ttT	p.F45F	RIT2_ENST00000590910.1_Silent_p.F45F|RIT2_ENST00000282028.4_Silent_p.F45F|RIT2_ENST00000326695.5_Silent_p.F45F	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	45					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GATAATCAGGGAACTGATGAC	0.318000													12	31					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179638516	179638516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:179638516C>T	ENST00000444136.1	+	17	3087	c.2837C>T	c.(2836-2838)tCc>tTc	p.S946F	TDRD5_ENST00000367614.1_Missense_Mutation_p.S892F|TDRD5_ENST00000294848.8_Missense_Mutation_p.S892F	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	892					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GTGGATGATTCCGCAGAAAAG	0.473000													37	110					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29102112	29102112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:29102112C>T	ENST00000261590.8	+	6	799	c.590C>T	c.(589-591)tCc>tTc	p.S197F	DSG2_ENST00000585206.1_Missense_Mutation_p.S197F	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	197	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCGAAAATTTCCTATAGAATC	0.378000													18	26					0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42459594	42459594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:42459594G>A	ENST00000318006.5	-	13	1537	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	VPS39_ENST00000348544.4_Missense_Mutation_p.H470Y	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	470					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	p.H459Y(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TAACTCACATGGAGATAGCAC	0.527000													18	35					0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13635872	13635872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:13635872G>A	ENST00000361306.1	+	8	1059	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	EGFL6_ENST00000380602.3_Missense_Mutation_p.E268K	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	268					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TTCTGTGAAGGAAGTCCTCAG	0.348000													60	19					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13811895	13811895	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:13811895A>T	ENST00000265104.4	-	44	7372	c.7268T>A	c.(7267-7269)aTt>aAt	p.I2423N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2423	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGACGAAGAATTTCTGCTTC	0.423000									Kartagener syndrome				29	57					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62599149	62599149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:62599149C>T	ENST00000512091.1	+	7	1819	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	LPHN3_ENST00000507625.1_Missense_Mutation_p.P426S|LPHN3_ENST00000507164.1_Missense_Mutation_p.P426S|LPHN3_ENST00000545650.1_Missense_Mutation_p.P358S|LPHN3_ENST00000514996.1_Missense_Mutation_p.P358S|LPHN3_ENST00000509896.1_Missense_Mutation_p.P426S|LPHN3_ENST00000514157.1_Missense_Mutation_p.P358S|LPHN3_ENST00000506746.1_Missense_Mutation_p.P426S|LPHN3_ENST00000506700.1_Missense_Mutation_p.P358S|LPHN3_ENST00000508693.1_Missense_Mutation_p.P426S|LPHN3_ENST00000506720.1_Missense_Mutation_p.P426S|LPHN3_ENST00000504896.1_Missense_Mutation_p.P358S|LPHN3_ENST00000508946.1_Missense_Mutation_p.P358S|LPHN3_ENST00000511324.1_Missense_Mutation_p.P426S|LPHN3_ENST00000514591.1_Missense_Mutation_p.P358S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	358	Olfactomedin-like.				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						TGTACCCTTTCCTAATTCATA	0.383000													14	12					0	0	1	0	0
SASS6	163786	broad.mit.edu	37	1	100588017	100588017	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:100588017A>T	ENST00000287482.5	-	4	370	c.230T>A	c.(229-231)cTg>cAg	p.L77Q	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	77	PISA.				centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GAAGTCTACCAGAAGACCTTG	0.303000													23	19					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75816559	75816559	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:75816559G>A	ENST00000306726.2	-	3	800	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	96	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTAAGATGGTGAATTTTCCAC	0.383000													21	36					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47835896	47835896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:47835896G>A	ENST00000371764.4	+	1	13	c.4G>A	c.(4-6)Gta>Ata	p.V2I	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	2						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTGACGCATGGTACTTGCGCA	0.607000													8	12					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203820193	203820193	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:203820193C>T	ENST00000545588.1	+	16	5942	c.2115C>T	c.(2113-2115)gtC>gtT	p.V705V	ZC3H11A_ENST00000367212.3_Silent_p.V705V|ZC3H11A_ENST00000367214.1_Silent_p.V705V|ZC3H11A_ENST00000332127.4_Silent_p.V705V|ZC3H11A_ENST00000367210.1_Silent_p.V705V	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	705							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)			AGGCTGTTGTCCCGCTTGTCT	0.413000													140	115					0	0	1	0	0
MIR1283-2	100302205	broad.mit.edu	37	19	54261553	54261553	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:54261553G>A	ENST00000408621.1	+	0	68					NR_031696.1																						GCTTCCCTTTGGAGTGTTACG	0.458000													27	35					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113194892	113194892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:113194892G>A	ENST00000401783.2	-	31	5419	c.5083C>T	c.(5083-5085)Cct>Tct	p.P1695S	SVEP1_ENST00000374469.1_Missense_Mutation_p.P1672S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1695	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCTCCAAAGGAGGTGGCACC	0.448000													29	73					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24498562	24498562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:24498562G>A	ENST00000264463.4	-	9	1967	c.1460C>T	c.(1459-1461)cCa>cTa	p.P487L	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	487	Cadherin 4.				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)		AGCAAACTGTGGGGCATTGTC	0.403000										HNSCC(23;0.051)			30	66					0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625222	56625222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:56625222C>T	ENST00000266980.4	+	2	457	c.164C>T	c.(163-165)gCa>gTa	p.A55V	SLC39A5_ENST00000454355.2_Missense_Mutation_p.A55V	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	55					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACGCTGACTGCAGGGGGCTTG	0.662000													22	50					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702223	179702223	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:179702223G>A	ENST00000420890.2	-	23	3840	c.3723C>T	c.(3721-3723)tcC>tcT	p.S1241S	CCDC141_ENST00000295723.5_Silent_p.S666S|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	666							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)			GAAGGCTGAGGGAGGAGCTGA	0.587000													10	30					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11333968	11333968	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:11333968G>A	ENST00000315872.6	-	30	4072	c.3624C>T	c.(3622-3624)gtC>gtT	p.V1208V	ROCK2_ENST00000401753.1_Silent_p.V965V	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1208	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TAACTGGTCGGACATGAAATA	0.299000													11	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611561	179611561	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:179611561A>C	ENST00000360870.5	-	46	15788	c.15566T>G	c.(15565-15567)cTg>cGg	p.L5189R	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8708	Ig-like 32.						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)			CCTTTTGGTCAGAGGTTCAAT	0.388000													12	22					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039653	36039653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:36039653G>A	ENST00000282507.3	-	5	1102	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	UGT3A2_ENST00000545528.1_Missense_Mutation_p.S32F|UGT3A2_ENST00000513300.1_Missense_Mutation_p.S300F	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	334						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGGCCAATGAGAACACTGACA	0.522000													31	192					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106969110	106969110	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:106969110C>T	ENST00000369066.3	+	2	3290	c.2803C>T	c.(2803-2805)Ctg>Ttg	p.L935L		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	935							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CAAAGAAGATCTGGATTCACG	0.363000													38	10					0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15853087	15853087	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:15853087G>A	ENST00000305892.1	+	1	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCAGTCTAAGGAACAAGGAGC	0.438000													42	97					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109031524	109031524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:109031524C>T	ENST00000478945.1	-	3	295	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	17						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCATCTACTTCCCCCTCCAAG	0.398000													37	102					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43895991	43895991	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:43895991C>T	ENST00000389420.3	-	4	830	c.831G>A	c.(829-831)tcG>tcA	p.S277S	ADAMTS20_ENST00000553158.1_Silent_p.S277S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	277	Peptidase M12B.					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)		TTTGCAAATTCGATCCATGAG	0.289000													9	7					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46497358	46497358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:46497358C>T	ENST00000231751.4	-	4	722	c.427G>A	c.(427-429)Gga>Aga	p.G143R	LTF_ENST00000426532.2_Missense_Mutation_p.G99R|LTF_ENST00000417439.1_Missense_Mutation_p.G143R	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	143	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ACATTCCATCCAGCGGTCCTG	0.557000													28	30					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324073	61324073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:61324073G>A	ENST00000283752.5	-	7	903	c.760C>T	c.(760-762)Ctc>Ttc	p.L254F	SERPINB3_ENST00000332821.8_Intron|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	254					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						ACCTTCTGGAGACCATCGATT	0.428000													44	166					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175087757	175087757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:175087757C>T	ENST00000239462.4	+	11	2560	c.2447C>T	c.(2446-2448)tCc>tTc	p.S816F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	816	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCACTGTCTCCTGGGACCCG	0.537000													67	65					0	0	1	0	0
PNPO	55163	broad.mit.edu	37	17	46022934	46022934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:46022934C>T	ENST00000225573.4	+	4	478	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	PNPO_ENST00000544840.1_Intron|RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000534893.1_Missense_Mutation_p.P30S|PNPO_ENST00000434554.2_Missense_Mutation_p.P125S	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	125					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5					Pyridoxal Phosphate(DB00114)	GGACTCTAATCCCTTTGCTTC	0.557000													31	100					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134254059	134254059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:134254059C>T	ENST00000524765.1	-	3	4680	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	B3GAT1_ENST00000312527.4_Missense_Mutation_p.E46K|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000392580.1_Missense_Mutation_p.E46K|B3GAT1_ENST00000537389.1_Missense_Mutation_p.E59K			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	46					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGCGGCGTTTCGCGTCGGGGG	0.706000													13	4					0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79094850	79094850	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:79094850G>A	ENST00000326724.4	-	11	2910	c.2886C>T	c.(2884-2886)gcC>gcT	p.A962A	AATK_ENST00000417379.1_Silent_p.A859A	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	962						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCTCCGCAAAGGCCTGGGGCT	0.642000													6	25					0	0	1	0	0
SLC8B1	80024	broad.mit.edu	37	12	113758480	113758480	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:113758480G>A	ENST00000552014.1	-	7	947	c.432C>T	c.(430-432)ttC>ttT	p.F144F	SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Silent_p.F144F|SLC24A6_ENST00000546737.1_Silent_p.F144F			Q6J4K2	NCKX6_HUMAN		144					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CAAATGCCAGGAAGGTGACGC	0.637000													4	17					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51611535	51611535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:51611535G>A	ENST00000371117.3	-	59	10257	c.9982C>T	c.(9982-9984)Cct>Tct	p.P3328S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P3328S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3328					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTAATGAAGGAAAGTAGAAC	0.333000													29	71					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60847270	60847270	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:60847270C>T	ENST00000313733.3	+	5	550	c.348C>T	c.(346-348)ctC>ctT	p.L116L	OSBPL2_ENST00000358053.2_Silent_p.L104L|OSBPL2_ENST00000439951.2_Silent_p.L24L	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	116					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			ACGTGTACCTCATCCACAGGG	0.582000													13	60					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20986719	20986719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:20986719C>T	ENST00000261383.3	-	51	8094	c.8095G>A	c.(8095-8097)Gaa>Aaa	p.E2699K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2699	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E2699*(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTGTCAGTTCTCTTTGCATA	0.463000													35	49					0	0	1	0	0
ZNF396	252884	broad.mit.edu	37	18	32948372	32948372	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:32948372C>T	ENST00000306346.1	-	5	1076	c.945G>A	c.(943-945)aaG>aaA	p.K315K		NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	0					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGTACATATTCTTTTGGGCCT	0.328000													29	54					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484819	97484819	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:97484819G>A	ENST00000376705.2	+	2	807	c.783G>A	c.(781-783)ggG>ggA	p.G261G		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	261						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TCCAGAGAGGGGCCACTTGGA	0.498000													9	28					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20799495	20799495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:20799495C>T	ENST00000359062.3	+	11	2363	c.2323C>T	c.(2323-2325)Ctc>Ttc	p.L775F	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	775	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TATTCCAGGCCTCTCAACTGT	0.413000													25	56					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76855029	76855029	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:76855029T>C	ENST00000373344.5	-	25	6021	c.5807A>G	c.(5806-5808)aAg>aGg	p.K1936R	ATRX_ENST00000395603.3_Missense_Mutation_p.K1898R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1936	Poly-Lys.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.K1936T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTTTCCCCTTTTTCCCTTT	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						3	157					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036358	71036358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:71036358G>A	ENST00000333538.5	+	6	1685	c.1051G>A	c.(1051-1053)Gga>Aga	p.G351R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	351	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGATGTATACGGAGGAGAAAA	0.517000													36	59					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519615	53519615	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:53519615G>A	ENST00000370905.3	-	2	596	c.456C>T	c.(454-456)atC>atT	p.I152I	KLHL31_ENST00000407079.1_Silent_p.I152I	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CAAGAGTATGGATCTGAAGAT	0.393000													77	95					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46401276	46401276	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:46401276C>T	ENST00000292301.4	+	3	1535	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	CCR2_ENST00000400888.2_Silent_p.L350L	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	350					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CACAAGGACTCCTCGATGGTC	0.493000													49	53					0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38244579	38244579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:38244579G>A	ENST00000450525.2	+	8	1299	c.808G>A	c.(808-810)Gag>Aag	p.E270K	THRA_ENST00000546243.1_Missense_Mutation_p.E270K|THRA_ENST00000584985.1_Missense_Mutation_p.E270K|THRA_ENST00000394121.4_Missense_Mutation_p.E270K|THRA_ENST00000264637.4_Missense_Mutation_p.E270K	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	270	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CTACGACCCTGAGAGCGACAC	0.632000													56	53					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183454513	183454513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:183454513C>T	ENST00000305135.5	+	8	1015	c.820C>T	c.(820-822)Cct>Tct	p.P274S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	274	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAGAGAGCCTCCTTTTCACCT	0.408000													46	40					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437504	120437504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:120437504C>T	ENST00000369400.1	-	1	1614	c.1456G>A	c.(1456-1458)Gga>Aga	p.G486R		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	486	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CAAGGGGTTCCATCCTGCTTA	0.488000													17	33					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173545850	173545850	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:173545850C>T	ENST00000367714.3	-	8	1274	c.852G>A	c.(850-852)ctG>ctA	p.L284L	SLC9C2_ENST00000536496.1_Silent_p.L182L|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	284					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AATCTAAATTCAGTCCTACAG	0.368000													31	31					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9494243	9494243	+	Silent	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:9494243T>C	ENST00000396602.2	+	3	251	c.132T>C	c.(130-132)aaT>aaC	p.N44N	ZNF143_ENST00000530463.1_Silent_p.N44N|ZNF143_ENST00000396597.3_Intron|ZNF143_ENST00000299606.2_Silent_p.N44N|ZNF143_ENST00000396604.1_Silent_p.N44N	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	44					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACTTAGAAAATATGGAAGGCG	0.343000													39	75					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13429817	13429817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:13429817C>T	ENST00000254508.5	-	5	752	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	224					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TAGACAGCCTCCTGGATGCGA	0.577000													55	41					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828763	13828763	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:13828763C>T	ENST00000279593.3	-	4	1250	c.1041G>A	c.(1039-1041)agG>agA	p.R347R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	347					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGACAAATTCCTCCCCTCAA	0.403000													19	35					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477014	63477014	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:63477014C>T	ENST00000536984.2	+	3	979	c.285C>T	c.(283-285)ttC>ttT	p.F95F	CDH7_ENST00000397968.2_Silent_p.F95F|CDH7_ENST00000323011.3_Silent_p.F95F			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	95	Cadherin 1.				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)				GTTCCATTTTCATTATTGATG	0.468000													19	93					0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759477	94759477	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:94759477G>A	ENST00000450979.2	+	1	1056	c.756G>A	c.(754-756)aaG>aaA	p.K252K		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	252	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						CAGTTCTCAAGGAAAATGGGA	0.552000													8	27					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29641914	29641914	+	Silent	SNP	C	C	T	rs139267044	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:29641914C>T	ENST00000356870.3	+	24	3386	c.3276C>T	c.(3274-3276)atC>atT	p.I1092I	PTPRU_ENST00000460170.2_Silent_p.I1092I|PTPRU_ENST00000428026.2_Silent_p.I1083I|PTPRU_ENST00000373779.3_Silent_p.I1086I|PTPRU_ENST00000345512.3_Silent_p.I1096I|PTPRU_ENST00000323874.8_Silent_p.I1092I	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1096	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTTGCTATATCGTCCTGGATG	0.582000													28	87					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189203	124189203	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:124189203C>T	ENST00000357438.2	-	1	981	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GTGCATTTTTCACATCCTTGT	0.403000													44	18					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939081	2939081	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:2939081G>A	ENST00000378404.2	+	1	1036	c.831G>A	c.(829-831)tcG>tcA	p.S277S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	277						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCGGGCTCTCGAATATGGTCT	0.642000													40	28					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126781204	126781204	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:126781204C>T	ENST00000274473.6	+	21	2814	c.2547C>T	c.(2545-2547)ctC>ctT	p.L849L	MEGF10_ENST00000503335.2_Silent_p.L849L|MEGF10_ENST00000510828.1_Intron	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	849	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTACTGCTCTCCCTGCTGATT	0.438000													24	66					0	0	1	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36233575	36233575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:36233575G>A	ENST00000292879.5	-	6	586	c.533C>T	c.(532-534)tCc>tTc	p.S178F	U2AF1L4_ENST00000378975.3_3'UTR|AD000671.6_ENST00000589807.1_Intron|U2AF1L4_ENST00000412391.2_3'UTR	NM_144987.2	NP_659424.2	Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	0					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCTGCCAGGAACATCTGTC	0.592000													35	62					0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31322709	31322709	+	Missense_Mutation	SNP	G	G	A	rs149695417		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:31322709G>A	ENST00000580599.1	+	3	519	c.110G>A	c.(109-111)gGa>gAa	p.G37E	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000269053.3_Missense_Mutation_p.G106E			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	106					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GGGCTGGACGGATACCGGGGA	0.622000													9	26					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123348433	123348433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:123348433C>T	ENST00000360304.3	-	30	5283	c.5002G>A	c.(5002-5004)Gaa>Aaa	p.E1668K	MYLK_ENST00000359169.1_Intron|MYLK_ENST00000475616.1_Missense_Mutation_p.E1668K|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000354792.5_Missense_Mutation_p.E468K|MYLK_ENST00000346322.5_Missense_Mutation_p.E1599K|MYLK-AS1_ENST00000470449.1_RNA	NM_053025.3	NP_444253.3	Q15746	MYLK_HUMAN	myosin light chain kinase	1668	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCCAAGGTTTCGTTATCGTTG	0.557000													54	51					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565570	24565570	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:24565570T>G	ENST00000376862.3	+	3	1192	c.559T>G	c.(559-561)Ttc>Gtc	p.F187V	SYNDIG1_ENST00000482637.1_3'UTR	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	187					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTCAGTGTCTTCTCCATGCT	0.577000													35	95					0	0	1	0	0
GET4	51608	broad.mit.edu	37	7	933449	933449	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:933449C>T	ENST00000407192.1	+	6	3177	c.660C>T	c.(658-660)aaC>aaT	p.N220N	GET4_ENST00000265857.3_Silent_p.N273N			Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	273					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCATGTACAACGAGGTGAGAG	0.642000													11	15					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988269	113988269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:113988269G>A	ENST00000297405.5	-	7	1383	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	CSMD3_ENST00000343508.3_Missense_Mutation_p.S340F|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.S380F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	380						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						TGTAACACTGGATACAGTAAC	0.498000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			45	33					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120383218	120383218	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:120383218G>A	ENST00000602047.1	+	16	1724	c.612G>A	c.(610-612)gaG>gaA	p.E204E	PCDP1_ENST00000413369.3_Silent_p.E490E|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		490						cilium	calmodulin binding	p.E204D(1)				Colorectal(110;0.196)					TGGACAAAGAGAGTATACTGA	0.413000													23	46					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58009767	58009767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:58009767C>T	ENST00000286494.4	+	13	1847	c.1387C>T	c.(1387-1389)Cag>Tag	p.Q463*	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Nonsense_Mutation_p.Q502*|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	463	PH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GCATGTGGCTCAGATCTTGGA	0.572000													52	92					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031001	33031001	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:33031001G>A	ENST00000340811.4	-	3	921	c.813C>T	c.(811-813)gtC>gtT	p.V271V	PKP2_ENST00000070846.6_Silent_p.V271V	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	271					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)					CCAGCGGCCTGACCTGCCCGA	0.662000													17	21					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021858	96021858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:96021858C>T	ENST00000297954.4	+	11	3028	c.3028C>T	c.(3028-3030)Cct>Tct	p.P1010S	WNK2_ENST00000395477.2_Missense_Mutation_p.P1010S|WNK2_ENST00000427277.2_Missense_Mutation_p.P622S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P622S			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1010					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCCCACCTTCCTGAACAAGC	0.677000													6	9					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24893010	24893010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:24893010G>A	ENST00000382071.2	+	3	306	c.221G>A	c.(220-222)gGa>gAa	p.G74E	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G74E			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	74	Collagen-like 1.					collagen	hormone activity	p.G74V(1)		endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGAGAGAAGGGAGAACGAGGT	0.453000													44	117					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25262537	25262537	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:25262537G>A	ENST00000218548.6	+	4	642	c.309G>A	c.(307-309)gaG>gaA	p.E103E	ATP12A_ENST00000381946.3_Silent_p.E103E	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	103					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AGACGCCTGAGATCGTCAAGT	0.597000													223	180					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88967890	88967890	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:88967890C>T	ENST00000237596.2	+	6	1482	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	472						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTGATTTCTTCCTGGCAGCCT	0.388000													32	109					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43376049	43376049	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:43376049C>T	ENST00000244296.2	-	3	716	c.579G>A	c.(577-579)ttG>ttA	p.L193L	PSG1_ENST00000312439.6_Silent_p.L193L|PSG1_ENST00000436291.2_Silent_p.L193L|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595356.1_Silent_p.L193L	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CGGACAGCTTCAAGCTGTGAG	0.517000													111	212					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27436557	27436557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:27436557G>A	ENST00000295736.5	-	19	2796	c.2726C>T	c.(2725-2727)cCt>cTt	p.P909L	SLC4A7_ENST00000455077.1_Missense_Mutation_p.P790L|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P794L|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P905L|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P459L|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P785L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P905L|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P901L|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P790L|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P918L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	909						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GGTCCACCAAGGATTATCTCC	0.368000													17	53					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116746668	116746668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:116746668G>A	ENST00000375300.1	-	9	1158	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Nonsense_Mutation_p.R226*|SIK3_ENST00000292055.4_Nonsense_Mutation_p.R327*|SIK3_ENST00000542607.1_Intron			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	327						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTCTTATGTCGATCACACAGC	0.473000													34	11					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135678	156135678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:156135678C>T	ENST00000329476.3	+	2	1076	c.587C>T	c.(586-588)cCg>cTg	p.P196L	NPY2R_ENST00000506608.1_Missense_Mutation_p.P196L	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	196					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GAGATCATCCCGGACTTTGAG	0.507000													76	70					0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54329643	54329643	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:54329643C>T	ENST00000231009.2	+	5	754	c.684C>T	c.(682-684)gtC>gtT	p.V228V	CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	228	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACGCTATAGTCTCTGGAGGTC	0.483000													22	43					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137600087	137600087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:137600087G>A	ENST00000274721.3	-	2	488	c.242C>T	c.(241-243)tCg>tTg	p.S81L	GFRA3_ENST00000378362.3_Missense_Mutation_p.S81L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	81					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGCAGGGACCGAAGGCTCCTC	0.602000													15	46					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7579526	7579526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:7579526G>A	ENST00000379802.3	+	23	3444	c.3103G>A	c.(3103-3105)Gaa>Aaa	p.E1035K	DSP_ENST00000418664.2_Missense_Mutation_p.E1035K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1035	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACCAAGATCGAAGTTTTGGA	0.428000													22	26					0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66136998	66136998	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:66136998G>A	ENST00000357440.2	-	3	345	c.117C>T	c.(115-117)ttC>ttT	p.F39F	SLC29A2_ENST00000311161.7_Silent_p.F39F|SLC29A2_ENST00000546034.1_Silent_p.F39F|SLC29A2_ENST00000544554.1_Silent_p.F39F	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	39					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GTCGCGCCTGGAAGTACTGCC	0.617000													75	205					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221050	140221050	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140221050C>T	ENST00000531613.1	+	1	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.I48I|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_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)			TGGGCCGGATCGCGCAGGACC	0.657000													27	84					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228854	57228854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:57228854G>A	ENST00000396721.2	-	2	183	c.53C>T	c.(52-54)tCa>tTa	p.S18L	SDR16C5_ENST00000303749.3_Missense_Mutation_p.S18L|SDR16C5_ENST00000522671.1_Missense_Mutation_p.S18L			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	18					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ACTAAACAGTGATTTTCCTAA	0.418000													41	46					0	0	1	0	0
PDCL2	132954	broad.mit.edu	37	4	56448404	56448404	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:56448404C>T	ENST00000295645.4	-	2	109	c.6_splice	c.e2-1	p.D3_splice		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	3										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TCATTGGGATCCTACACAAAA	0.303000													16	43					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253736	81253736	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:81253736G>A	ENST00000599697.1	-	1	239	c.240C>T	c.(238-240)tcC>tcT	p.S80S	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	80	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCCTGTCCTGGGAGATGTGCT	0.552000													37	52					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129406	248129406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:248129406C>T	ENST00000366480.3	+	1	872	c.773C>T	c.(772-774)tCc>tTc	p.S258F	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	258					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)			ACTTGTTCCTCCCACCTGATT	0.507000													48	20					0	0	1	0	0
CT62	196993	broad.mit.edu	37	15	71403552	71403552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:71403552G>A	ENST00000449977.2	-	4	855	c.349C>T	c.(349-351)Cct>Tct	p.P117S	RP11-673C5.4_ENST00000564862.1_RNA|THSD4_ENST00000355327.3_Intron|CT62_ENST00000566432.1_3'UTR	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	117										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						AGCAGAAAAGGGAAAGAGAAG	0.463000													4	8					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37337858	37337858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:37337858C>T	ENST00000373091.3	-	4	679	c.663G>A	c.(661-663)atG>atA	p.M221I	GRIK3_ENST00000373093.4_Missense_Mutation_p.M221I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	221					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)	GGCCTCGCTTCATCTCCTTGA	0.587000													42	34					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59131237	59131237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:59131237G>A	ENST00000472487.1	-	17	2137	c.2098C>T	c.(2098-2100)Ccc>Tcc	p.P700S	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	700					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TATGGTAAGGGATTATTTCGA	0.348000													20	56					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242142881	242142881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:242142881G>A	ENST00000274979.8	+	9	1122	c.1019G>A	c.(1018-1020)gGg>gAg	p.G340E	ANO7_ENST00000402430.3_Missense_Mutation_p.G339E	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	340						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGGTACTTCGGGGAGAAGGTG	0.647000													3	8					0	0	1	0	0
CECR6	27439	broad.mit.edu	37	22	17600953	17600953	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:17600953G>A	ENST00000331437.3	-	1	1190	c.1065C>T	c.(1063-1065)acC>acT	p.T355T	CECR6_ENST00000399875.1_5'UTR	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	355										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		ACAGCGCCATGGTGAGACGGA	0.692000													17	30					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40080475	40080475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:40080475C>T	ENST00000336649.4	+	39	6017	c.6017C>T	c.(6016-6018)cCa>cTa	p.P2006L	CACNA1I_ENST00000407673.1_Missense_Mutation_p.P1965L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.P1965L|CACNA1I_ENST00000404898.1_Missense_Mutation_p.P1965L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.P2000L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.P2000L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	2000					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTGCGGTCACCAAGGGTCAAC	0.627000													8	17					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33632946	33632946	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:33632946C>T	ENST00000374316.5	+	14	2425	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	ITPR3_ENST00000605930.1_Silent_p.A455A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	455					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGGCCAGTGCCGTGGAGAAAC	0.597000													5	202					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780987	88780987	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:88780987C>T	ENST00000418177.2	-	2	421	c.54G>A	c.(52-54)ggG>ggA	p.G18G	GRM5_ENST00000393294.3_Silent_p.G18G|GRM5_ENST00000305447.4_Silent_p.G18G|GRM5_ENST00000305432.5_Silent_p.G18G|GRM5_ENST00000455756.2_Silent_p.G18G|GRM5_ENST00000393297.1_Silent_p.G18G			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	18					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)	ACTGTGCACTCCCACGGACAT	0.468000													36	35					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773326	140773326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140773326G>A	ENST00000398604.2	+	1	946	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCATTTTATGAAATGGAAAT	0.358000													55	181					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196963358	196963358	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:196963358G>A	ENST00000367414.5	+	4	707	c.651G>A	c.(649-651)ggG>ggA	p.G217G	CFHR5_ENST00000256785.4_Silent_p.G193G	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	193	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCAATTTGGGTGGTCACCTA	0.318000													35	102					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7420457	7420457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:7420457C>T	ENST00000399429.3	-	29	2382	c.2242G>A	c.(2242-2244)Ggt>Agt	p.G748S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	748	Collagen-like 6.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTTTATCACCTTTCTTTCCC	0.408000													28	83					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141773941	141773941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:141773941G>A	ENST00000475668.2	+	45	5297	c.5243G>A	c.(5242-5244)gGa>gAa	p.G1748E	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1748	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAAGCAAAAGGAGAACTTTTC	0.448000													7	13					0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154961016	154961016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:154961016G>A	ENST00000368433.1	+	2	1151	c.808G>A	c.(808-810)Gga>Aga	p.G270R	FLAD1_ENST00000295530.2_Missense_Mutation_p.G3R|FLAD1_ENST00000405236.2_Missense_Mutation_p.G171R|FLAD1_ENST00000292180.3_Missense_Mutation_p.G270R|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000368431.3_Missense_Mutation_p.G171R|FLAD1_ENST00000368432.1_Missense_Mutation_p.G173R|FLAD1_ENST00000315144.10_Missense_Mutation_p.G173R			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	270					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGATGAAGGGACTATTCCA	0.572000													37	22					0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42119598	42119598	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:42119598G>A	ENST00000502486.1	-	6	2121	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	514										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CCTGGTGATCGATCCCTTCAT	0.527000													23	14					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039768	248039768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:248039768G>A	ENST00000366481.3	+	6	1486	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	480						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCTGCTTCTGATGTAAGAGA	0.428000													34	27					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78516487	78516487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:78516487C>T	ENST00000278550.7	-	15	2491	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CAGTGGCATTCGCCTCTCACG	0.592000													6	9					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65347941	65347941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:65347941C>T	ENST00000309295.4	+	6	890	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	209										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCTCGAGTCCCCCAGCCAGG	0.637000													14	62					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32011576	32011576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:32011576G>A	ENST00000375244.3	-	35	11681	c.11480C>T	c.(11479-11481)tCg>tTg	p.S3827L	TNXB_ENST00000375247.2_Missense_Mutation_p.S3825L|TNXB_ENST00000451343.1_Missense_Mutation_p.S256L			P22105	TENX_HUMAN	tenascin XB	3872	Fibronectin type-III 30.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.S3892L(1)|p.S256L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCTCGGACCGAGACCACGGT	0.627000													79	113					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9388640	9388640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:9388640C>T	ENST00000378501.2	+	18	1703	c.1688C>T	c.(1687-1689)cCa>cTa	p.P563L	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.P575L|PLCB4_ENST00000278655.4_Missense_Mutation_p.P563L|PLCB4_ENST00000334005.3_Missense_Mutation_p.P563L|PLCB4_ENST00000378493.1_Missense_Mutation_p.P563L|PLCB4_ENST00000414679.2_Missense_Mutation_p.P575L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	563					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATATCCATCCATATTTGTCC	0.433000													45	157					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39495113	39495113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:39495113G>A	ENST00000265707.5	+	9	763	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.E216K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	240	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTGGTCAAATGAAAACCAGAT	0.358000													9	24					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2121513	2121513	+	Silent	SNP	C	C	T	rs137854248		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:2121513C>T	ENST00000219476.3	+	18	2472	c.1842C>T	c.(1840-1842)gcC>gcT	p.A614A	TSC2_ENST00000350773.4_Silent_p.A614A|TSC2_ENST00000568454.1_Silent_p.A625A|TSC2_ENST00000353929.4_Silent_p.A614A|TSC2_ENST00000439673.2_Silent_p.A577A|TSC2_ENST00000401874.2_Silent_p.A614A|TSC2_ENST00000382538.6_Silent_p.A565A	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	614			A -> D (in TSC2).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGACAGGCCTTTGACTTCC	0.642000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				17	11					0	0	1	0	0
SH3D21	79729	broad.mit.edu	37	1	36785872	36785872	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:36785872C>T	ENST00000453908.2	+	14	1636	c.1608C>T	c.(1606-1608)ccC>ccT	p.P536P	SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Silent_p.P425P|SH3D21_ENST00000312808.4_Silent_p.P182P|SH3D21_ENST00000426732.2_Silent_p.P420P	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	420										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CAGAGGCACCCCCACCCCAGC	0.582000													19	47					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70420239	70420239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:70420239C>T	ENST00000381280.4	+	3	621	c.368C>T	c.(367-369)tCc>tTc	p.S123F	SMOC1_ENST00000361956.3_Missense_Mutation_p.S123F	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	123	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GAGGATGGCTCCTTTACCCAG	0.632000													13	31					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180116	124180116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:124180116G>A	ENST00000357821.2	-	1	617	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TTGAGGAGGGGAAGAACATCA	0.458000													21	12					0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41268892	41268892	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:41268892C>T	ENST00000243563.3	+	4	1063	c.513C>T	c.(511-513)ccC>ccT	p.P171P		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	171	Pro-rich.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GTATGATCCCCCCGCCAGGCC	0.672000													15	24					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25261758	25261758	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:25261758C>T	ENST00000395990.2	-	17	2013		c.e17-1		CASC1_ENST00000545133.1_Splice_Site|CASC1_ENST00000395987.3_Splice_Site|CASC1_ENST00000320267.9_Splice_Site|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000354189.5_Intron	NM_001204102.1	NP_001191031.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1											breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTTCCCTCACCTAAAAAAAAA	0.353000													6	16					0	0	1	0	0
DCTD	1635	broad.mit.edu	37	4	183815719	183815719	+	Missense_Mutation	SNP	G	G	A	rs17849458		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:183815719G>A	ENST00000438320.2	-	4	574	c.284C>T	c.(283-285)tCg>tTg	p.S95L	DCTD_ENST00000357067.3_Missense_Mutation_p.S106L|DCTD_ENST00000510370.1_Missense_Mutation_p.S95L	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	95				S -> L (in Ref. 6; AAH01286).	nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	p.S95L(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		CACATCGGTCGAATTTTTGTT	0.438000													20	67					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882800	144882800	+	Silent	SNP	G	G	A	rs140450543		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:144882800G>A	ENST00000369359.4	-	27	3668	c.3630C>T	c.(3628-3630)atC>atT	p.I1210I	PDE4DIP_ENST00000369354.3_Silent_p.I1073I|PDE4DIP_ENST00000530740.1_Silent_p.I1210I|PDE4DIP_ENST00000369356.4_Silent_p.I1073I|PDE4DIP_ENST00000313382.9_Silent_p.I1139I|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1073					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)		TGTCTTCCTCGATCTCCCATC	0.512000			T	PDGFRB	MPD								114	372					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049915	9049915	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9049915G>A	ENST00000397910.4	-	5	31919	c.31716C>T	c.(31714-31716)gtC>gtT	p.V10572V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10574	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						CAGAACGAGAGACCAGTGAGG	0.498000													14	34					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52863032	52863032	+	Silent	SNP	G	G	A	rs139360268	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:52863032G>A	ENST00000252250.6	-	9	1556	c.1509C>T	c.(1507-1509)gtC>gtT	p.V503V		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	503	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AGCCACTGCCGACACCGCTGG	0.602000													12	22					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36169144	36169144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:36169144C>T	ENST00000357641.6	+	2	1298	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	BRPF3_ENST00000534694.1_Missense_Mutation_p.H349Y|BRPF3_ENST00000339717.7_Missense_Mutation_p.H349Y|BRPF3_ENST00000443324.2_Missense_Mutation_p.H349Y|BRPF3_ENST00000534400.1_Missense_Mutation_p.H349Y|BRPF3_ENST00000543502.1_Missense_Mutation_p.H349Y	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	349					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CACAGCATTCCATGTGACATG	0.537000													16	24					0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30199760	30199760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:30199760G>A	ENST00000219150.5	+	10	1449	c.1144G>A	c.(1144-1146)Ggt>Agt	p.G382S	CORO1A_ENST00000565497.1_Intron|CORO1A_ENST00000570045.1_Missense_Mutation_p.G382S	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	382					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GTGGCTGGGGGGTCGGGATGC	0.687000													26	45					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535211	96535211	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:96535211G>A	ENST00000371321.3	+	3	478	c.396G>A	c.(394-396)cgG>cgA	p.R132R	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	132			R -> Q (in allele CYP2C19*6; loss of activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGACGCTGCGGAATTTTGGGA	0.507000													36	50					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41100974	41100974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:41100974C>T	ENST00000373198.3	-	8	1617	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q	PTPRT_ENST00000373193.3_Missense_Mutation_p.R461Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R461Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R461Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R461Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.R461Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R461Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	461	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGCAAGAGTCGCAGCCGGAT	0.602000													22	75					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13438930	13438930	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:13438930G>A	ENST00000254508.5	-	3	445	c.363C>T	c.(361-363)atC>atT	p.I121I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	121					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGTGGAGACGATCTGGATGT	0.612000													41	33					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150737981	150737981	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:150737981C>T	ENST00000358849.4	+	12	1548	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	ABCB8_ENST00000297504.6_Silent_p.I502I|ABCB8_ENST00000498578.1_Silent_p.I485I|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000542328.1_Silent_p.I397I	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	502	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGCAAGATCGTGGCCCTCG	0.657000													3	8					0	0	1	0	0
ZNF185	7739	broad.mit.edu	37	X	152100320	152100320	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:152100320G>A	ENST00000535861.1	+	13	1067	c.1019_splice	c.e13+1	p.R340_splice	ZNF185_ENST00000324823.6_Intron|ZNF185_ENST00000370268.4_Splice_Site_p.R340_splice|ZNF185_ENST00000318504.7_Splice_Site_p.R281_splice|ZNF185_ENST00000318529.8_Splice_Site_p.R119_splice|ZNF185_ENST00000370270.1_Intron|ZNF185_ENST00000449285.2_Splice_Site_p.R341_splice|ZNF185_ENST00000539731.1_Splice_Site_p.R311_splice	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	340						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCTGCAAGGTAACTCAGT	0.572000													9	1					0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131605022	131605022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:131605022G>A	ENST00000436267.2	-	5	543	c.394C>T	c.(394-396)Ccg>Tcg	p.P132S	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.P38S|CCBL1_ENST00000320665.6_Missense_Mutation_p.P38S			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	38					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GGGAAATCCGGGAAGCCCTGG	0.542000													14	36					0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2279104	2279104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:2279104G>A	ENST00000440306.2	-	2	282	c.247C>T	c.(247-249)Cct>Tct	p.P83S	FTSJ2_ENST00000242257.8_Missense_Mutation_p.P83S|FTSJ2_ENST00000486040.1_5'UTR			Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	83	S-adenosyl-L-methionine binding.				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CAGGCCCCAGGAGCTGCCCCA	0.647000													6	7					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25259938	25259938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:25259938C>T	ENST00000354454.3	+	20	2039	c.1210C>T	c.(1210-1212)Ctt>Ttt	p.L404F	LRMP_ENST00000548766.1_Missense_Mutation_p.L404F|LRMP_ENST00000547044.1_Missense_Mutation_p.L404F	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	460					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GAAGCCAAGTCTTTCTGAAAA	0.343000													4	17					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97185262	97185262	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:97185262G>A	ENST00000514100.1	+	4	248		c.e4-1		EPHA6_ENST00000389672.5_Intron|EPHA6_ENST00000502694.1_Splice_Site|EPHA6_ENST00000442602.2_Intron	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6							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						ATATTCCATaggactctccat	0.403000													13	10					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926949	1926949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:1926949C>T	ENST00000399161.2	-	10	1339	c.592G>A	c.(592-594)Gat>Aat	p.D198N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D198N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	198					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCAGTTCATCGTAATTGTCA	0.408000													14	13					0	0	1	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104224	142104224	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142104224C>T	ENST00000390379.1	-	0	240																											TTGTAGCCATCGGGGACTTCT	0.517000													80	107					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20673126	20673126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:20673126C>T	ENST00000307493.4	-	6	1049	c.982G>A	c.(982-984)Gat>Aat	p.D328N	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.D328N	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	328					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTGGTGAAATCCTGCTGCAGA	0.373000													24	33					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304437	3304437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:3304437C>T	ENST00000219596.1	-	2	670	c.631G>A	c.(631-633)Ggg>Agg	p.G211R	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	211					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGCAGCCTCCCCGCGGAGCTG	0.741000													4	11					0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969565	240969565	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:240969565G>A	ENST00000402971.2	-	1	341	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	94					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)		TGCACCCGACGAAAGAGATGC	0.572000													5	50					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234304	21234304	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:21234304C>T	ENST00000233242.1	-	26	5563	c.5436G>A	c.(5434-5436)ggG>ggA	p.G1812G		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1812					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCGTAGTTTCCCATTGTTGG	0.403000													26	57					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479510	156479510	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:156479510G>A	ENST00000339252.3	-	3	1067	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	HAVCR1_ENST00000544197.1_Silent_p.L179L|HAVCR1_ENST00000523175.1_Silent_p.L179L|HAVCR1_ENST00000425854.1_Silent_p.L179L|HAVCR1_ENST00000522693.1_Silent_p.L179L	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	174	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATTGTCGTCAGAACAGTCGTT	0.463000													351	354					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136535833	136535833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:136535833G>A	ENST00000371872.4	-	19	2625	c.2368C>T	c.(2368-2370)Ccc>Tcc	p.P790S	SARDH_ENST00000371868.1_Missense_Mutation_p.P218S|SARDH_ENST00000439388.1_Missense_Mutation_p.P790S|SARDH_ENST00000422262.2_Missense_Mutation_p.P622S	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	790					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCCTCCAGGGGGCTGTCGTCT	0.706000													5	6					0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183818295	183818295	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:183818295C>T	ENST00000415389.2	+	2	556	c.90C>T	c.(88-90)atC>atT	p.I30I	HTR3E_ENST00000436361.2_Silent_p.I45I|HTR3E_ENST00000425359.2_Silent_p.I30I|HTR3E_ENST00000335304.2_Silent_p.I45I|HTR3E_ENST00000440596.2_Silent_p.I45I|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	30						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.I45I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTTTCACCATCAATTGCTCAG	0.552000													160	178					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108719493	108719493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:108719493C>T	ENST00000232603.5	-	21	2180	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	MORC1_ENST00000483760.1_Missense_Mutation_p.E679K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	700					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTTCATTTCCCAAGAAGCG	0.373000													15	69					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198665840	198665840	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:198665840G>A	ENST00000367376.2	+	4	265		c.e4-1		PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Splice_Site|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000442510.2_Splice_Site	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C						axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTAATTAACAGGATTGACTAC	0.418000													18	92					0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31323938	31323938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:31323938G>A	ENST00000580599.1	+	4	623	c.214G>A	c.(214-216)Ggg>Agg	p.G72R	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Missense_Mutation_p.G38R|SPACA3_ENST00000269053.3_Missense_Mutation_p.G141R			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	141					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CACCAACAACGGGATCTTCCA	0.592000													49	90					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240492663	240492663	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:240492663C>T	ENST00000319653.9	+	10	4562	c.4332C>T	c.(4330-4332)atC>atT	p.I1444I	FMN2_ENST00000545751.1_Silent_p.I40I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1444	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGTCACTAATCCCCAACTTTT	0.358000													28	89					0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586837	86586837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:86586837G>A	ENST00000376263.3	-	11	1136	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	HNRNPK_ENST00000376264.2_Missense_Mutation_p.R305W|HNRNPK_ENST00000376281.4_Missense_Mutation_p.R305W|HNRNPK_ENST00000360384.5_Missense_Mutation_p.R305W|HNRNPK_ENST00000351839.3_Missense_Mutation_p.R305W	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	305	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GGAAGATTCCGAGCTCTGCTA	0.517000													25	62					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25071603	25071603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:25071603G>A	ENST00000533227.1	+	10	814	c.527G>A	c.(526-528)gGa>gAa	p.G176E	LUZP2_ENST00000336930.6_Missense_Mutation_p.G262E	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	262	Leucine-zipper.					extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGTGCTTCTGGAAACAATGAG	0.358000													35	33					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9683185	9683185	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:9683185C>T	ENST00000330255.4	-	3	450	c.438G>A	c.(436-438)aaG>aaA	p.K146K	DHRS7C_ENST00000571134.1_Silent_p.K145K	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	146						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CATCCATGATCTTTTTGTCGA	0.493000													11	10					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158902549	158902549	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:158902549G>A	ENST00000262178.2	-	3	398	c.213C>T	c.(211-213)gtC>gtT	p.V71V	VIPR2_ENST00000402066.1_Silent_p.V212V	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	71					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AGGGCACCGTGACGGTCTCTC	0.572000													33	59					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187768	121187768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:121187768C>T	ENST00000321339.1	+	1	119	c.110C>T	c.(109-111)cCc>cTc	p.P37L		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	37					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCGGGGCGCCCCTTGGACCCC	0.776000													7	3					0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105936543	105936543	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:105936543C>T	ENST00000331320.7	+	21	2353	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	MTA1_ENST00000435036.2_Silent_p.I253I|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000405646.1_Silent_p.I696I|MTA1_ENST00000406191.1_Silent_p.I701I	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	713					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCATCGTCATCGAGGACTAGG	0.776000													3	4					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35969476	35969476	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:35969476G>A	ENST00000297866.5	+	5	951	c.885_splice	c.e5+1	p.L295_splice		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	295										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAGAAGAATTGGTAAGTAAGT	0.348000													6	4					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117718539	117718539	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:117718539C>T	ENST00000317775.6	-	8	2200	c.1515G>A	c.(1513-1515)caG>caA	p.Q505Q	NOS1_ENST00000338101.4_Silent_p.Q505Q|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	505					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCTCTGTGAACTGCACATTGG	0.592000													19	35					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764918	92764918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:92764918G>A	ENST00000318238.4	-	5	1583	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	SAMD9L_ENST00000437805.1_Missense_Mutation_p.P123S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P123S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	123										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCTCTCTGGGATCATAATCA	0.313000													8	31					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152279474	152279474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:152279474C>T	ENST00000243326.4	+	7	1187	c.704C>T	c.(703-705)tCa>tTa	p.S235L	RIF1_ENST00000428287.2_Missense_Mutation_p.S235L|RIF1_ENST00000453091.2_Missense_Mutation_p.S235L|RIF1_ENST00000444746.2_Missense_Mutation_p.S235L|RIF1_ENST00000430328.2_Missense_Mutation_p.S235L|RIF1_ENST00000433166.2_Intron			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	235					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAATTAATCTCAGAACTTCAG	0.308000													9	22					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78683168	78683168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:78683168G>A	ENST00000436010.2	-	22	4278	c.3281C>T	c.(3280-3282)cCt>cTt	p.P1094L	ROBO1_ENST00000495273.1_Missense_Mutation_p.P1088L|ROBO1_ENST00000464233.1_Missense_Mutation_p.P1133L|ROBO1_ENST00000467549.1_Missense_Mutation_p.P1033L			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1133					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GATAGTTGGAGGAACTGTGTC	0.398000													42	34					0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200607	123200607	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:123200607G>A	ENST00000528880.2	-	1	832	c.678C>T	c.(676-678)atC>atT	p.I226I	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	226						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	TGGCTCTCTTGATCTTGGCAT	0.552000													15	23					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228779	3228779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:3228779G>A	ENST00000217939.6	-	7	7619	c.7465C>T	c.(7465-7467)Cca>Tca	p.P2489S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2489	Ig-like C2-type 9.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCATAGTATGGAGCTGGCAGA	0.572000													7	0					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167793962	167793962	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:167793962G>A	ENST00000367848.1	-	27	4103	c.3606C>T	c.(3604-3606)atC>atT	p.I1202I	ADCY10_ENST00000545172.1_Silent_p.I1141I|ADCY10_ENST00000367851.4_Silent_p.I1294I|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1294					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CGTATGCCACGATTTCAATGC	0.522000													167	146					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212767	55212767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:55212767C>T	ENST00000447346.2	+	15	2179	c.2114C>T	c.(2113-2115)tCg>tTg	p.S705L	IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.S563L|IL31RA_ENST00000359040.5_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	673					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TACCTACGTTCGAGGATGCCA	0.527000													20	73					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88904658	88904658	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:88904658C>T	ENST00000556553.1	+	12	2155	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	SPATA7_ENST00000393545.4_Silent_p.S564S|SPATA7_ENST00000356583.5_Silent_p.S532S|SPATA7_ENST00000045347.7_Intron			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	564					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CATCACCCTCCCAATCTGTTC	0.408000													22	38					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27622887	27622887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:27622887C>T	ENST00000319394.3	+	10	1479	c.944C>T	c.(943-945)tCg>tTg	p.S315L	WDTC1_ENST00000361771.3_Missense_Mutation_p.S315L	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	315							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TGCCACTCCTCGGGGGGTAAG	0.522000													72	76					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233757678	233757678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:233757678C>T	ENST00000264051.3	-	7	1350	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	NGEF_ENST00000539537.1_Missense_Mutation_p.D81N|NGEF_ENST00000373552.4_Missense_Mutation_p.D266N	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	358	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGAAGTGGTCGGCCGCATAA	0.572000													47	61					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406282	38406282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:38406282G>A	ENST00000322350.5	+	7	1113	c.767G>A	c.(766-768)gGa>gAa	p.G256E	EGFLAM_ENST00000354891.3_Missense_Mutation_p.G256E|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.G22E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	256						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACCGACATGGGAGCTGGTGAG	0.483000													12	81					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16337512	16337512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:16337512G>A	ENST00000400202.1	-	3	3714	c.3002C>T	c.(3001-3003)tCa>tTa	p.S1001L	NRIP1_ENST00000400199.1_Missense_Mutation_p.S1001L|NRIP1_ENST00000318948.4_Missense_Mutation_p.S1001L			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1001					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ACCTGGGTATGAAAATGTCCT	0.453000													4	20					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116756873	116756873	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:116756873C>T	ENST00000331677.3	+	7	1686	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	DSE_ENST00000359564.2_Silent_p.F414F|DSE_ENST00000537543.1_Silent_p.F433F|DSE_ENST00000452085.3_Silent_p.F414F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	414					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.S416fs*12(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATAGATCTTTCCTTTCCTTCA	0.418000													31	9					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47734556	47734556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:47734556C>T	ENST00000371828.3	-	11	1529	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	STAU1_ENST00000340954.7_Missense_Mutation_p.E342K|STAU1_ENST00000371856.2_Missense_Mutation_p.E423K|STAU1_ENST00000371792.1_Missense_Mutation_p.E340K|STAU1_ENST00000360426.4_Missense_Mutation_p.E342K|STAU1_ENST00000347458.5_Missense_Mutation_p.E342K|STAU1_ENST00000371802.1_Missense_Mutation_p.E348K	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	423	DRBM 3.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGGGCGACCTCGGGCACCATG	0.517000													49	121					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27285068	27285068	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:27285068C>T	ENST00000317338.12	-	11	2627	c.2199G>A	c.(2197-2199)gtG>gtA	p.V733V	SEZ6_ENST00000360295.9_Silent_p.V733V|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Silent_p.V733V|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	733	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GGTAAGTGACCACGGTGCCGT	0.607000													25	81					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219612	134219612	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:134219612G>A	ENST00000305233.5	+	2	1667	c.1608G>A	c.(1606-1608)acG>acA	p.T536T	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	536	PWWP.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CTCCGACTACGTCGTTCTTGT	0.498000													6	50					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407027	75407027	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:75407027G>A	ENST00000394810.2	-	4	2532	c.2383C>T	c.(2383-2385)Ctg>Ttg	p.L795L	SYNPO2L_ENST00000372873.4_Silent_p.L571L|SYNPO2L_ENST00000372872.4_Intron	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	795	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GAAGGGGGCAGAGACGGGGTA	0.592000													44	105					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212435	26212435	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:26212435G>A	ENST00000379034.1	+	2	621	c.472G>A	c.(472-474)Gat>Aat	p.D158N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	158	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGGCTCGCCTGATGCAGGTGT	0.512000													15	5					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73678375	73678375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:73678375G>A	ENST00000264448.6	+	8	4829	c.4718G>A	c.(4717-4719)gGa>gAa	p.G1573E	ALMS1_ENST00000409009.1_Missense_Mutation_p.G1531E|ALMS1_ENST00000377715.1_Missense_Mutation_p.G1573E	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1573	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TACTCATTTGGAGAGAAGCCG	0.448000													20	47					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165706911	165706911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:165706911C>T	ENST00000543069.1	-	6	1380	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	C6orf118_ENST00000230301.8_Missense_Mutation_p.E371K			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	371										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)		CCTGATCGTTCCTTTGCAGAC	0.458000													148	46					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118974146	118974146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:118974146G>A	ENST00000328252.3	+	4	2222	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	618					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCAGGGCCAGGAAATGACACC	0.532000													71	179					0	0	1	0	0
LETM2	137994	broad.mit.edu	37	8	38261941	38261941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:38261941C>T	ENST00000379957.4	+	8	1262	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	LETM2_ENST00000297720.5_Missense_Mutation_p.P284S|LETM2_ENST00000524874.1_Missense_Mutation_p.P331S|LETM2_ENST00000523983.2_Missense_Mutation_p.P332S|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000527710.1_Missense_Mutation_p.P165S	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	379	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GGAGAACGTCCCTCCTTCCCT	0.552000													33	84					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	870942	870942	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:870942G>A	ENST00000381922.3	-	2	481	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	ANGPT4_ENST00000546022.1_Nonsense_Mutation_p.Q127*	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	127					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGGGCCGTCTGATTCTGGGCC	0.612000													36	31					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241641	3241641	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:3241641G>A	ENST00000217939.6	-	5	2239	c.2085C>T	c.(2083-2085)atC>atT	p.I695I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	695						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATCCTCCACGATGTCTTCTC	0.517000													30	8					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43795855	43795855	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:43795855G>A	ENST00000291532.3	-	12	2272	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	TMPRSS3_ENST00000433957.2_Silent_p.S438S|TMPRSS3_ENST00000398405.1_Silent_p.S436S|TMPRSS3_ENST00000380399.1_Silent_p.S523S|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	439	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AGTCCAGGAAGGAGGTGACAC	0.597000													41	60					0	0	1	0	0
TIMM21	29090	broad.mit.edu	37	18	71816059	71816059	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:71816059C>T	ENST00000580087.1	+	1	302	c.16C>T	c.(16-18)Cta>Tta	p.L6L	TIMM21_ENST00000169551.6_Silent_p.L6L			Q9BVV7	TI21L_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	6					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											TTGTACTTTTCTACGAGCCGT	0.483000													53	190					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875734	247875734	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:247875734G>A	ENST00000302084.2	-	1	371	c.324C>T	c.(322-324)ggC>ggT	p.G108G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACTCTGTGCAGCCTAATGAGA	0.498000													25	70					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161139760	161139760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:161139760G>A	ENST00000308192.9	+	9	1049	c.986G>A	c.(985-987)gGa>gAa	p.G329E		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	329	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AATCCTGACGGAAAAAGGGCC	0.463000													25	10					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51975487	51975487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:51975487G>A	ENST00000220478.3	+	4	656	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	85					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACAGAAAAGGAAAAAATTGA	0.373000													51	94					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27886902	27886902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:27886902C>T	ENST00000413272.2	-	17	2177	c.2035G>A	c.(2035-2037)Ggc>Agc	p.G679S	NUGGC_ENST00000341513.6_Missense_Mutation_p.G679S	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.G679S(1)									GCTTTTTTGCCCGTGATCTGA	0.542000													5	10					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50724501	50724501	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:50724501G>A	ENST00000515869.1	-	6	2184	c.2064C>T	c.(2062-2064)gaC>gaT	p.D688D	PGBD3_ENST00000374127.3_Silent_p.D220D|PGBD3_ENST00000603152.1_Silent_p.D688D|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Silent_p.D220D|ERCC6-PGBD3_ENST00000447839.2_Silent_p.D688D	NM_001277059.1	NP_001263988.1																					TTTCAAACCGGTCACGTCTCA	0.388000													34	47					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154876092	154876092	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:154876092C>T	ENST00000287907.2	+	2	1545	c.969C>T	c.(967-969)ttC>ttT	p.F323F	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	323						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AAAGCATCTTCCTGTGGCTTG	0.507000													39	90					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392722	1392722	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:1392722G>A	ENST00000324385.5	+	13	1331	c.1173G>A	c.(1171-1173)agG>agA	p.R391R	BAIAP3_ENST00000426824.3_Silent_p.R356R|BAIAP3_ENST00000562208.1_Silent_p.R333R|BAIAP3_ENST00000397489.1_Silent_p.R373R|BAIAP3_ENST00000397488.2_Silent_p.R373R|BAIAP3_ENST00000568887.1_Silent_p.R328R|BAIAP3_ENST00000421665.2_Silent_p.R320R	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	391					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CGTTGCAGAGGGATACGGCCA	0.667000													7	18					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28544272	28544272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:28544272C>T	ENST00000401766.2	-	5	1261	c.749G>A	c.(748-750)gGc>gAc	p.G250D	SLC6A4_ENST00000261707.3_Missense_Mutation_p.G250D			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	250					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCAGCTGATGCCCCCCAGGTC	0.582000													26	71					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35800200	35800200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:35800200G>A	ENST00000440995.2	+	34	4946	c.4946G>A	c.(4945-4947)gGa>gAa	p.G1649E	SPEF2_ENST00000356031.3_Missense_Mutation_p.G1654E|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.G451E			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1654					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGGCTGTTGGAACTCATGTC	0.483000													33	143					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72954515	72954515	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:72954515C>T	ENST00000425042.2	-	11	1376	c.1299G>A	c.(1297-1299)cgG>cgA	p.R433R		NM_030630.2	NP_085133.1			HID1 domain containing																		CCCCGAAGTTCCGCTCCCCGC	0.637000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	17					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150814531	150814531	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:150814531C>T	ENST00000397238.2	+	4	552	c.552C>T	c.(550-552)ccC>ccT	p.P184P	AGAP3_ENST00000479901.1_Silent_p.P184P|AGAP3_ENST00000463381.1_5'UTR|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000335367.3_Silent_p.P364P|AGAP3_ENST00000473312.1_Silent_p.P184P	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	148	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AAGGAGGCCCCCCTGAGCTCC	0.612000													34	58					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579090	55579090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:55579090C>T	ENST00000333973.2	+	1	237	c.148C>T	c.(148-150)Cag>Tag	p.Q50*		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	50					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)				TGCACTGATTCAGGTCAGCTC	0.483000													155	151					0	0	1	0	0
CTSF	8722	broad.mit.edu	37	11	66333340	66333340	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:66333340A>T	ENST00000310325.5	-	7	1035	c.926T>A	c.(925-927)tTt>tAt	p.F309Y		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	309					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTGGTTGAGAAACCACTGGCC	0.612000													30	29					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47627450	47627450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:47627450C>T	ENST00000455779.1	+	12	1272	c.1087C>T	c.(1087-1089)Ctt>Ttt	p.L363F	PHKB_ENST00000323584.5_Missense_Mutation_p.L370F|PHKB_ENST00000299167.8_Missense_Mutation_p.L370F|PHKB_ENST00000566044.1_Missense_Mutation_p.L363F			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	370					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)				CATATTTTTCCTTTATATGAT	0.254000													11	22					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133747523	133747523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:133747523C>T	ENST00000318560.5	+	5	1211	c.830C>T	c.(829-831)aCc>aTc	p.T277I		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	277	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CAGGAGGACACCATGGAGGTG	0.458000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								15	30					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751729	27751729	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:27751729T>C	ENST00000261588.4	+	15	2130	c.2111T>C	c.(2110-2112)gTc>gCc	p.V704A		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	704										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTGTCGGCAGTCCCCACTTCG	0.493000													32	64					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95372583	95372583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:95372583G>A	ENST00000371447.3	+	1	239	c.101G>A	c.(100-102)gGa>gAa	p.G34E		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	34					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GAGGTGCTGGGAGAAATCTTC	0.552000													43	76					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28119464	28119464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:28119464G>A	ENST00000263181.6	-	2	321	c.31C>T	c.(31-33)Cat>Tat	p.H11Y		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	11	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						ACTTTCATATGGTGGCACAGG	0.338000													35	109					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661506	4661506	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:4661506G>A	ENST00000357605.2	+	1	562	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATCTGCCCTGACCAGGGGGT	0.527000													118	102					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91747817	91747817	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:91747817G>A	ENST00000389857.6	-	27	4769	c.4683C>T	c.(4681-4683)ccC>ccT	p.P1561P	CCDC88C_ENST00000331194.7_Silent_p.P85P	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1561					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCCTGTGGTTGGGGACCTCAA	0.507000													20	44					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17100465	17100465	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:17100465G>A	ENST00000443236.1	-	13	1555	c.1524C>T	c.(1522-1524)tcC>tcT	p.S508S	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	461						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCAGTGGGTGGGAGGGTGGCT	0.612000													27	35					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169783743	169783743	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:169783743T>A	ENST00000263817.6	-	26	3665	c.3541A>T	c.(3541-3543)Aaa>Taa	p.K1181*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1181	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GGAATTTCTTTGGTGTTGTCT	0.443000													32	66					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69318037	69318037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:69318037C>T	ENST00000303714.4	+	9	1011	c.689C>T	c.(688-690)aCc>aTc	p.T230I	ANTXR1_ENST00000409829.3_Missense_Mutation_p.T230I|ANTXR1_ENST00000409349.3_Missense_Mutation_p.T230I	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	230					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GAACCATCCACCATATGTGCA	0.378000									Familial Infantile Hemangioma				22	39					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171710458	171710458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:171710458G>A	ENST00000358196.3	+	14	1889	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	447					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGTCTCCTACGACACCGGGGA	0.478000													42	77					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084653	53084653	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:53084653C>T	ENST00000276480.7	-	10	1451	c.768G>A	c.(766-768)agG>agA	p.R256R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	256						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)				GCGGGTCTTTCCTTTCTGTTT	0.453000													25	89					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94903268	94903268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:94903268G>A	ENST00000289495.5	+	13	3278	c.3062G>A	c.(3061-3063)gGa>gAa	p.G1021E	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G1061E|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G1039E|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G1039E|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000433881.1_Intron	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	806	Interacts with TGN38 (By similarity).|SAM.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGCAAGGAGGAAAAATTAAG	0.383000										HNSCC(28;0.073)			5	8					0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045721	142045721	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142045721C>T	ENST00000390392.3	+	0	360																											CAAGTCGCTTCTCACCTGAAT	0.483000													47	187					0	0	1	0	0
CTSF	8722	broad.mit.edu	37	11	66335115	66335115	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:66335115G>A	ENST00000310325.5	-	3	440	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	111					proteolysis	lysosome	cysteine-type endopeptidase activity	p.L111V(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCTCATCCAGGACTTGGAAG	0.612000													85	46					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887546	97887546	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:97887546G>A	ENST00000356526.2	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	1					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						GTGAGGACATGGAAGAGGAAA	0.363000													36	58					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643672	94643672	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:94643672C>T	ENST00000260526.6	-	21	2714	c.2532G>A	c.(2530-2532)gtG>gtA	p.V844V	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	844	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTCCAAATATCACCCCCAAGT	0.423000													77	73					0	0	1	0	0
WFDC2	10406	broad.mit.edu	37	20	44108528	44108528	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:44108528T>G	ENST00000342873.3	+	1	450	c.17T>G	c.(16-18)gTt>gGt	p.V6G	WFDC2_ENST00000488143.1_Intron|WFDC2_ENST00000372676.3_Intron|WFDC2_ENST00000339946.3_Intron			Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	0					proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CAGGTACAAGTTAATCTCCCT	0.562000													162	146					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167240187	167240187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:167240187G>A	ENST00000308378.3	-	12	1939	c.1634C>T	c.(1633-1635)tCt>tTt	p.S545F	WDR49_ENST00000476376.1_Missense_Mutation_p.S370F|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	545								p.S545Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGAAAATAAAGAAATTTCCTT	0.313000													20	22					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41519068	41519068	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:41519068C>T	ENST00000396942.1	-	42	5717	c.5634G>A	c.(5632-5634)ggG>ggA	p.G1878G	RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000289734.7_Silent_p.G1853G|ANK1_ENST00000522231.1_Intron|ANK1_ENST00000396945.1_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000352337.4_Silent_p.G1831G|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000314214.8_Silent_p.G128G|ANK1_ENST00000522543.1_Intron|RP11-930P14.1_ENST00000585088.1_RNA			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTAGGCCACTCCCTCTCAGCT	0.607000													34	92					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51452217	51452217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:51452217G>A	ENST00000336334.3	-	4	842	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	KLK5_ENST00000391809.2_Missense_Mutation_p.R164C|KLK5_ENST00000593428.1_Missense_Mutation_p.R164C	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	164	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.R164C(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTAGTGGGACGAATTCTTCTG	0.547000													31	53					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29546896	29546896	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:29546896C>T	ENST00000222792.6	+	11	1574	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	CHN2_ENST00000539389.1_Silent_p.I204I|CHN2_ENST00000539406.1_Silent_p.I423I|CHN2_ENST00000409041.4_Silent_p.I212I|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000424025.2_Silent_p.I167I|CHN2_ENST00000439711.2_Intron|CHN2_ENST00000421775.2_Silent_p.I154I|CHN2_ENST00000546235.1_Silent_p.I333I|CHN2_ENST00000495789.2_Silent_p.I361I	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	348	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TAAACATCATCACTGGAGCCC	0.378000													17	28					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328842	152328842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:152328842C>T	ENST00000388718.5	-	3	1492	c.1420G>A	c.(1420-1422)Ggt>Agt	p.G474S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	474	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGTCTTACCTGAGCTAGAC	0.517000													158	165					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28378135	28378135	+	Splice_Site	SNP	G	G	A	rs35119577		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:28378135G>A	ENST00000394835.3	+	9	1392		c.e9-1		EFCAB5_ENST00000378738.3_Splice_Site|EFCAB5_ENST00000394832.2_Splice_Site|EFCAB5_ENST00000320856.5_Splice_Site|EFCAB5_ENST00000541045.1_Splice_Site|EFCAB5_ENST00000536908.2_Splice_Site	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5								calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCTTTGCTTAGGTAGGGTTTT	0.393000													20	18					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29293946	29293946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:29293946G>A	ENST00000331664.5	-	1	3181	c.3182C>T	c.(3181-3183)cCc>cTc	p.P1061L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1061	Pro-rich.				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						TGCACTCTCGGGGGGAGGGTT	0.667000													42	50					0	0	1	0	0
S100A7A	338324	broad.mit.edu	37	1	153391697	153391697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:153391697C>T	ENST00000368729.4	+	3	275	c.218C>T	c.(217-219)tCt>tTt	p.S73F	S100A7A_ENST00000368728.2_Missense_Mutation_p.S73F|S100A7A_ENST00000329256.2_Missense_Mutation_p.S73F	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	73	EF-hand 2.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATTGATTTTTCTGAGTTTCTG	0.483000													35	34					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433857	43433857	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:43433857G>A	ENST00000406070.2	-	0	542				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGAGATGGAGGGTTTGGGAGT	0.512000													53	115					0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8656650	8656650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:8656650C>T	ENST00000328794.6	-	5	819	c.643G>A	c.(643-645)Gag>Aag	p.E215K		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	215										breast(1)|endometrium(2)|kidney(1)	4						TCCTCCATCTCCTCTGGGGAA	0.612000													3	5					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108303444	108303444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:108303444G>A	ENST00000370056.4	-	10	1253	c.979C>T	c.(979-981)Cct>Tct	p.P327S	VAV3_ENST00000371846.4_Missense_Mutation_p.P262S|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.P327S	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	327	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CGTTGCATAGGAACCACAAGC	0.323000													38	25					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101447347	101447347	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:101447347G>A	ENST00000554693.2	+	0	635				SNORD114-20_ENST00000365178.1_RNA																							CCTGTGGATCGATGATGACTA	0.378000													18	61					0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13546028	13546028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:13546028C>T	ENST00000295757.3	+	10	1072	c.889C>T	c.(889-891)Ctt>Ttt	p.L297F	HDAC11_ENST00000402259.1_Missense_Mutation_p.L131F|HDAC11_ENST00000433119.1_3'UTR|HDAC11_ENST00000404040.1_Missense_Mutation_p.L197F|HDAC11_ENST00000404548.1_3'UTR|HDAC11_ENST00000405025.1_3'UTR|HDAC11_ENST00000522202.1_Missense_Mutation_p.L246F|HDAC11_ENST00000446613.2_Missense_Mutation_p.L105F|HDAC11_ENST00000402271.1_Missense_Mutation_p.L218F|HDAC11_ENST00000437379.2_Missense_Mutation_p.L269F	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	297	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GGTGCCCATCCTTATGGTGAC	0.612000													49	47					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218713599	218713599	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:218713599G>A	ENST00000171887.4	-	17	1718	c.1266C>T	c.(1264-1266)gtC>gtT	p.V422V	TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Silent_p.V422V|TNS1_ENST00000430930.1_Silent_p.V422V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	422						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGCCCCGGGGACAGGCTCGT	0.642000													27	41					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142457338	142457338	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142457338G>A	ENST00000486171.1	+	1	20	c.3G>A	c.(1-3)atG>atA	p.M1I	PRSS1_ENST00000311737.7_Start_Codon_SNP_p.M1I			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	1					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CTACCACCATGAATCCACTCC	0.577000													40	91					0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24805566	24805566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:24805566C>T	ENST00000216274.5	-	10	1590	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	RP11-934B9.3_ENST00000555591.1_Intron	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	458					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	p.V458fs*9(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CCAACTTGCACCCCAGAGCAG	0.547000													28	64					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78078437	78078437	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:78078437C>A	ENST00000302262.3	+	2	271	c.52C>A	c.(52-54)Ctc>Atc	p.L18I	GAA_ENST00000390015.3_Missense_Mutation_p.L18I	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	18					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CGTCTGCGCCCTCGTGTCCTT	0.647000													15	40					3.45872e-05	3.47279e-05	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3235706	3235706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:3235706C>T	ENST00000217939.6	-	6	6170	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2006	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCGGTTTTCGTGCAGGGTG	0.622000													7	7					0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134890723	134890723	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:134890723G>T	ENST00000354475.4	-	5	713	c.682C>A	c.(682-684)Cct>Act	p.P228T	WDR91_ENST00000423565.1_Missense_Mutation_p.P193T|WDR91_ENST00000344400.5_Missense_Mutation_p.P228T|WDR91_ENST00000485942.1_5'UTR	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	228										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						ACATAAGGAGGCAATTTGTGT	0.527000													39	91					1.06522e-23	1.07759e-23	1	1	0
MDGA1	266727	broad.mit.edu	37	6	37612300	37612300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:37612300G>A	ENST00000434837.2	-	13	3552	c.2374C>T	c.(2374-2376)Ccc>Tcc	p.P792S	MDGA1_ENST00000297153.7_Missense_Mutation_p.P796S|MDGA1_ENST00000505425.1_Missense_Mutation_p.P792S	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	792	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ATGTCGGTGGGGGGACCAGTG	0.607000													8	23					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052122	9052122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:9052122G>A	ENST00000382496.5	-	20	3373	c.2708C>T	c.(2707-2709)tCg>tTg	p.S903L		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	903	TSP type-1 7.				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						AGACCAGTCCGACCACTCCGA	0.592000													16	18					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39801640	39801640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:39801640C>T	ENST00000564288.1	+	37	10157	c.9380C>T	c.(9379-9381)tCc>tTc	p.S3127F	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S3132F|MACF1_ENST00000289893.4_Missense_Mutation_p.S1567F|MACF1_ENST00000567887.1_Missense_Mutation_p.S3164F|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3132					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAGGCCCATCCCAAATTTCC	0.478000													22	47					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180039512	180039512	+	Silent	SNP	G	G	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:180039512G>C	ENST00000261937.6	-	26	3609	c.3531C>G	c.(3529-3531)ggC>ggG	p.G1177G	FLT4_ENST00000393347.3_Silent_p.G1177G|FLT4_ENST00000502649.1_Silent_p.G1177G	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1177					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCACTTGCAGGCCCCTGCCCT	0.662000													27	77					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13716600	13716600	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:13716600A>G	ENST00000265104.4	-	74	13009	c.12905T>C	c.(12904-12906)aTc>aCc	p.I4302T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4302					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAAACCTGGATATACTGAAG	0.333000									Kartagener syndrome				12	37					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542726	28542726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:28542726G>A	ENST00000452236.2	-	3	2373	c.1756C>T	c.(1756-1758)Cct>Tct	p.P586S		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	586					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GCCACCTTAGGAGTGACAGAA	0.378000													22	27					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149480200	149480200	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:149480200G>A	ENST00000378016.2	+	0	2082							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAGGTGCAGGGTCTGTGTG	0.597000													4	6					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066484	67066484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:67066484G>A	ENST00000315962.4	+	9	1812	c.1439G>A	c.(1438-1440)cGg>cAg	p.R480Q	TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.R480Q	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	480						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TCGAATGTACGGAAGGCAGAA	0.567000													22	45					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141232864	141232864	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:141232864G>A	ENST00000389484.3	-	60	10439	c.9468C>T	c.(9466-9468)ggC>ggT	p.G3156G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3156					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)		TTCCAACACGGCCAATATGAG	0.368000										TSP Lung(27;0.18)			29	55					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836308	43836308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:43836308C>T	ENST00000372781.3	+	2	427	c.370C>T	c.(370-372)Cac>Tac	p.H124Y	SEMG1_ENST00000244069.6_Missense_Mutation_p.H124Y	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGGTCATTTTCACAGGGTAGT	0.418000													17	61					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427724	119427724	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:119427724G>A	ENST00000369429.3	-	8	1449	c.1440C>T	c.(1438-1440)gtC>gtT	p.V480V	TBX15_ENST00000207157.3_Silent_p.V374V			Q96SF7	TBX15_HUMAN	T-box 15	480						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCCTGCATGACATACTGAA	0.567000													24	20					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101576622	101576622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:101576622G>A	ENST00000536262.2	-	9	1682	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	375					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.S375L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCTGAGAGCGATCTGAAGTA	0.368000													33	53					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929669	121929669	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:121929669T>C	ENST00000265922.3	-	8	2440	c.1979A>G	c.(1978-1980)tAt>tGt	p.Y660C	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		660					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CCTCAGGCTATACCCAAACAC	0.572000													62	108					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72083978	72083978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:72083978G>A	ENST00000294053.3	-	5	900	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	CLPB_ENST00000543042.1_Intron|CLPB_ENST00000340729.5_Intron|CLPB_ENST00000538039.1_Intron|CLPB_ENST00000437826.2_Missense_Mutation_p.P198S|CLPB_ENST00000445069.2_Missense_Mutation_p.P139S	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	243					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCGCCAGCGGGGAGTCCTAGC	0.527000													65	66					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119750046	119750046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:119750046G>A	ENST00000541757.1	+	16	1392	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	MARCO_ENST00000327097.4_Missense_Mutation_p.E416K			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	416	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGAAAAAGGTGAAAGAGGTAA	0.433000													13	35					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153655871	153655871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:153655871G>A	ENST00000368680.3	+	6	1755	c.1283G>A	c.(1282-1284)gGg>gAg	p.G428E		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	428					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AACTACAATGGGACTTCCCAA	0.592000													20	15					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95518946	95518946	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:95518946C>T	ENST00000432432.2	-	0	605					NR_040113.1																						TTGATCTATACCTTGTCCAGT	0.403000													35	87					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395951	47395951	+	Missense_Mutation	SNP	C	C	T	rs140052682	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:47395951C>T	ENST00000310638.4	-	12	1427	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.E467K	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	466					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ACCTTCAGCTCGTTCATGGCA	0.547000													40	132					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181759595	181759595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:181759595G>A	ENST00000526775.1	+	43	5909	c.5744G>A	c.(5743-5745)gGa>gAa	p.G1915E	CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1915E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1885E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1934E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1866E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1934E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1541E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1934					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						GGCCGGAGTGGATACCCTTCG	0.542000													21	53					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100365543	100365543	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:100365543G>A	ENST00000542585.1	+	0	5098				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_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)			TCCTCTACACGAACTTTGGGC	0.602000													16	21					0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99256384	99256384	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:99256384G>A	ENST00000393487.1	-	12	1522	c.1209C>T	c.(1207-1209)taC>taT	p.Y403Y	MGAT4A_ENST00000414521.2_Silent_p.Y275Y|MGAT4A_ENST00000264968.2_Silent_p.Y403Y|MGAT4A_ENST00000409391.1_Silent_p.Y403Y	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	403					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						TATGCCCTTGGTAGACCTTCA	0.403000													18	32					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246797840	246797840	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:246797840A>G	ENST00000366513.4	+	6	1038	c.769A>G	c.(769-771)Aat>Gat	p.N257D	CNST_ENST00000366512.3_Missense_Mutation_p.N257D|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	257					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AAAGGGATTTAATGGTGAAGA	0.333000													65	74					0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18613813	18613813	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:18613813G>A	ENST00000330423.3	+	5	1333	c.1260G>A	c.(1258-1260)gaG>gaA	p.E420E	TUBA8_ENST00000316027.6_Silent_p.E354E	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	420					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						AATTTTCTGAGGCCAGGGAAG	0.493000													24	59					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35715184	35715184	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:35715184C>T	ENST00000373866.3	+	4	613	c.591C>T	c.(589-591)atC>atT	p.I197I	ARMC12_ENST00000373869.3_Silent_p.I197I|ARMC12_ENST00000288065.2_Silent_p.I224I			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	197							binding										TGATGGAGATCCTGCAGTCAG	0.592000													26	55					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135487867	135487867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:135487867G>A	ENST00000394143.1	+	23	8962	c.8671G>A	c.(8671-8673)Gat>Aat	p.D2891N	GPR112_ENST00000370652.1_Missense_Mutation_p.D2891N|GPR112_ENST00000394141.1_Missense_Mutation_p.D2686N|GPR112_ENST00000287534.4_Missense_Mutation_p.D2644N|GPR112_ENST00000412101.1_Missense_Mutation_p.D2686N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2891					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GATTAAAGATGATTCTATCTT	0.343000													13	5					0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81324154	81324154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:81324154C>T	ENST00000258168.2	+	11	2077	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	BCMO1_ENST00000425577.2_Missense_Mutation_p.S470F	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	539					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GACAGGGCTTCCGACTGCCAC	0.537000													26	50					0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9828803	9828803	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:9828803G>A	ENST00000396115.1	-	11	1258	c.948C>T	c.(946-948)tcC>tcT	p.S316S	GAS7_ENST00000432992.2_Silent_p.S376S|GAS7_ENST00000437099.2_Silent_p.S312S|GAS7_ENST00000580865.1_Silent_p.S236S|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Silent_p.S312S|GAS7_ENST00000542249.1_Silent_p.S321S|GAS7_ENST00000585266.1_Silent_p.S312S|GAS7_ENST00000579158.1_Silent_p.S328S|GAS7_ENST00000583882.1_Intron	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	376					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						CAGCCTGTGTGGACTTTCTCC	0.597000			T	MLL	AML*						OREG0024170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	179					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200827081	200827081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:200827081C>T	ENST00000358823.2	+	17	4601	c.4331C>T	c.(4330-4332)cCc>cTc	p.P1444L	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.P1455L|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P1428L	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1455	CKK.					cytoplasm|microtubule	protein binding										AGCCACATACCCGCTAAAACT	0.363000													83	82					0	0	1	0	0
INHA	3623	broad.mit.edu	37	2	220439993	220439993	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:220439993C>T	ENST00000243786.2	+	2	1026	c.846C>T	c.(844-846)taC>taT	p.Y282Y		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	282					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGATCGTGTACCCTCCCAGTT	0.612000													23	58					0	0	1	0	0
S100A2	6273	broad.mit.edu	37	1	153534067	153534067	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:153534067C>T	ENST00000368708.3	-	3	514	c.141_splice	c.e3-1	p.E48_splice	S100A2_ENST00000487430.2_Splice_Site_p.E48_splice|S100A2_ENST00000368710.1_Splice_Site_p.E48_splice|S100A2_ENST00000368707.4_Splice_Site_p.W88_splice|S100A2_ENST00000497140.1_Splice_Site_p.E15_splice|S100A2_ENST00000368709.1_Splice_Site_p.E48_splice	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	49	EF-hand 1.				endothelial cell migration		calcium ion binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	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)			TCCACTTTCTCCTGAAAGTGA	0.547000													69	203					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111427002	111427002	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:111427002C>T	ENST00000393934.3	+	2	963	c.393C>T	c.(391-393)atC>atT	p.I131I	PLCXD2_ENST00000477665.1_Silent_p.I131I	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	131	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TCTACTTCATCCATGGGCTTT	0.502000													38	92					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28972152	28972152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:28972152C>T	ENST00000359747.4	+	8	883	c.854C>T	c.(853-855)tCg>tTg	p.S285L	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.S285L|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	285	Cadherin 3.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S285L(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGTTTAAGTTCGGAACTGATA	0.338000													11	45					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2152832	2152832	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:2152832G>A	ENST00000262304.4	-	24	9139	c.8931C>T	c.(8929-8931)acC>acT	p.T2977T	PKD1_ENST00000423118.1_Silent_p.T2977T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2977			T -> N.		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAATGAAGAAGGTGTAGGGCC	0.652000													22	35					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94044364	94044364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:94044364G>A	ENST00000553484.1	+	18	2542	c.2388G>A	c.(2386-2388)atG>atA	p.M796I	UNC79_ENST00000256339.4_Missense_Mutation_p.M619I|UNC79_ENST00000393151.2_Missense_Mutation_p.M796I|UNC79_ENST00000555664.1_Missense_Mutation_p.M796I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	796						integral to membrane		p.M619I(1)|p.M796I(1)		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						ATGATGAAATGAATCTAAATT	0.423000													19	27					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43805660	43805660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:43805660G>A	ENST00000372470.3	+	5	758	c.716G>A	c.(715-717)gGa>gAa	p.G239E	MPL_ENST00000413998.2_Missense_Mutation_p.G239E	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	239					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAGAGGGTGGAAGCTGCCTC	0.577000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						9	56					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8982210	8982210	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:8982210C>A	ENST00000397910.4	-	70	42268	c.42065G>T	c.(42064-42066)gGc>gTc	p.G14022V	MUC16_ENST00000380951.5_Missense_Mutation_p.G663V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14047	SEA 13.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCGGGTGATGCCATGGGTCTG	0.637000													19	31					3.8784e-16	3.90743e-16	1	1	0
UCHL5	51377	broad.mit.edu	37	1	192998407	192998407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:192998407G>A	ENST00000367452.4	-	6	865	c.95C>T	c.(94-96)tCa>tTa	p.S32L	UCHL5_ENST00000530098.2_Missense_Mutation_p.S32L|UCHL5_ENST00000367451.4_Missense_Mutation_p.S156L|UCHL5_ENST00000367455.3_Missense_Mutation_p.S156L|UCHL5_ENST00000367454.1_Missense_Mutation_p.S156L|UCHL5_ENST00000367448.1_Missense_Mutation_p.S156L|UCHL5_ENST00000367449.1_Missense_Mutation_p.S156L			Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	156					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TTCTTTTGCTGATGTCTTCGT	0.308000													9	26					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30953327	30953327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:30953327C>T	ENST00000597505.1	-	20	2887	c.2888G>A	c.(2887-2889)cGg>cAg	p.R963Q	DCDC1_ENST00000339794.5_Missense_Mutation_p.R42Q|DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	199					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTGCGTTTTCCGTCCAGGTGA	0.383000													7	13					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32959914	32959914	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:32959914C>T	ENST00000321639.5	+	7	1732	c.1404C>T	c.(1402-1404)atC>atT	p.I468I		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	468						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GGGTACCTATCCTCCCCGACC	0.582000													41	129					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490274	150490274	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:150490274C>G	ENST00000447204.2	-	5	874	c.502G>C	c.(502-504)Gac>Cac	p.D168H	TMEM176B_ENST00000326442.5_Missense_Mutation_p.D168H|TMEM176B_ENST00000492607.1_Missense_Mutation_p.D168H|TMEM176B_ENST00000429904.2_Missense_Mutation_p.D168H|TMEM176B_ENST00000434545.1_Missense_Mutation_p.D168H|TMEM176B_ENST00000450753.2_Missense_Mutation_p.D131H	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	168					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGACAGGGTCTGAGCGATCA	0.502000													31	46					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3432620	3432620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:3432620C>T	ENST00000336727.3	+	17	4956	c.4052C>T	c.(4051-4053)cCc>cTc	p.P1351L	RGS12_ENST00000382788.3_Missense_Mutation_p.P1351L|RGS12_ENST00000344733.5_Missense_Mutation_p.P1351L|RGS12_ENST00000338806.4_Missense_Mutation_p.P703L|RGS12_ENST00000538395.1_3'UTR	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1351						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCAGCAGCCCCAACAGCACC	0.657000													14	54					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100076902	100076902	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:100076902C>T	ENST00000375202.2	+	21	2075	c.723C>T	c.(721-723)gcC>gcT	p.A241A	CCDC180_ENST00000357054.1_Silent_p.A380A|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Silent_p.A380A|CCDC180_ENST00000529487.1_Silent_p.A241A|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Silent_p.A238A					coiled-coil domain containing 180																		CTGCGTAGGCCCTGCTGGAGC	0.632000													12	27					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47350211	47350211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:47350211C>T	ENST00000342922.4	+	32	4975	c.4618C>T	c.(4618-4620)Cct>Tct	p.P1540S	MADD_ENST00000402799.1_Missense_Mutation_p.P1497S|MADD_ENST00000402192.2_Missense_Mutation_p.P1539S|MADD_ENST00000407859.3_Missense_Mutation_p.P1517S|MADD_ENST00000395344.3_Missense_Mutation_p.P1493S|MADD_ENST00000349238.3_Missense_Mutation_p.P1560S|MADD_ENST00000395336.3_Silent_p.F1575F|MADD_ENST00000311027.5_Missense_Mutation_p.P1599S|MADD_ENST00000406482.1_Silent_p.F1473F	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1599					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GGTTTTAGTTCCTGAAATTAA	0.582000													30	21					0	0	1	0	0
NUDT21	11051	broad.mit.edu	37	16	56485101	56485101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:56485101G>A	ENST00000300291.5	-	1	186	c.14C>T	c.(13-15)cCg>cTg	p.P5L		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	5	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						GCGATTGGGCGGTACCACAGA	0.642000													3	99					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104048415	104048415	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:104048415C>T	ENST00000374874.3	+	4	721	c.282C>T	c.(280-282)ttC>ttT	p.F94F	LPPR1_ENST00000395056.2_Silent_p.F94F	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		94						integral to membrane	catalytic activity	p.F94F(1)									CCATGTATTTCATAAAATCAA	0.373000													29	36					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121243857	121243857	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:121243857G>A	ENST00000297848.3	+	19	2619	c.2349_splice	c.e19+1	p.T783_splice	COL14A1_ENST00000309791.4_Splice_Site_p.T783_splice|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Splice_Site_p.T688_splice	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	783	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCATAGGAACGGTCTGTATAA	0.448000													19	14					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89835919	89835919	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:89835919G>A	ENST00000310775.7	+	21	2079	c.1992_splice	c.e21-1	p.D665_splice	FANCI_ENST00000300027.8_Splice_Site_p.D665_splice	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	665					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCTCCTACAGGATTATCTGCT	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	44					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178745881	178745881	+	Translation_Start_Site	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:178745881A>T	ENST00000367635.3	+	0	320				RALGPS2_ENST00000367634.2_De_novo_Start_OutOfFrame|RALGPS2_ENST00000324778.4_De_novo_Start_OutOfFrame	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2						small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ACATAAGGTCAGGGACTGATG	0.418000													19	14					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316768	30316768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:30316768G>A	ENST00000375377.1	-	3	2410	c.2309C>T	c.(2308-2310)tCc>tTc	p.S770F		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	770										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGGTCCACGGACAAGGAAGT	0.612000													16	27					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49671179	49671179	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:49671179C>T	ENST00000252826.5	+	4	399	c.273C>T	c.(271-273)ctC>ctT	p.L91L	TRPM4_ENST00000427978.2_Silent_p.L91L|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	91					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CACAGTTCCTCCGGCTCTCTG	0.627000													43	85					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30530764	30530764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:30530764G>A	ENST00000375922.4	+	11	1067	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375938.4_Silent_p.R420R|TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000535842.1_Silent_p.R420R			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	379	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCAACGATCGGAAGAAACAAC	0.567000													58	176					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18658818	18658818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:18658818C>T	ENST00000440756.2	-	7	2087	c.1985G>A	c.(1984-1986)aGa>aAa	p.R662K	PSD3_ENST00000286485.8_Missense_Mutation_p.R128K|PSD3_ENST00000327040.8_Missense_Mutation_p.R662K|PSD3_ENST00000523619.1_Missense_Mutation_p.R597K			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	662	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATAAAAATATCTATTGGAGAA	0.289000													51	32					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183217608	183217608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:183217608G>A	ENST00000341319.3	-	4	952	c.917C>T	c.(916-918)tCg>tTg	p.S306L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	306								p.S306L(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)			GGTGCGTTCCGAAATGATCTG	0.527000													21	17					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45725584	45725584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:45725584G>A	ENST00000297323.7	+	13	2119	c.2097G>A	c.(2095-2097)tgG>tgA	p.W699*		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	699					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CTTGGGCCTGGAGCTCCAAGC	0.652000													8	17					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408570	29408570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:29408570C>T	ENST00000444197.2	+	1	1488	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TATCTATATTCGCCCTAAGGC	0.582000													180	295					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898638	175898638	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:175898638G>A	ENST00000359240.3	+	5	2632	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	ADAM29_ENST00000404450.4_Silent_p.L654L|ADAM29_ENST00000445694.1_Silent_p.L654L|ADAM29_ENST00000514159.1_Silent_p.L654L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	654	EGF-like.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.L654L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCAACTGCCTGATAAAAGGCT	0.413000													31	34					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321533	79321533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:79321533G>A	ENST00000428286.1	-	8	5780	c.4580C>T	c.(4579-4581)cCt>cTt	p.P1527L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P1886L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1886					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTCACTAAAAGGATTAGTATA	0.473000													6	15					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32017225	32017225	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:32017225G>A	ENST00000375244.3	-	28	9780	c.9579C>T	c.(9577-9579)ttC>ttT	p.F3193F	TNXB_ENST00000375247.2_Silent_p.F3191F			P22105	TENX_HUMAN	tenascin XB	3238					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.F3258F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGAAGGAGTCGAAGCGGCCCT	0.701000													47	78					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13407591	13407591	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:13407591C>T	ENST00000254508.5	-	14	1869	c.1786_splice	c.e14-1	p.G596_splice		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	596					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGGCAGCCTCCCTACAGAAAG	0.557000													17	15					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709260	176709260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:176709260C>T	ENST00000367662.3	+	14	5243	c.4079C>T	c.(4078-4080)tCc>tTc	p.S1360F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1360					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTAAGGACATCCTCCCGCATT	0.517000													26	37					0	0	1	0	0
KIAA1143	57456	broad.mit.edu	37	3	44795030	44795030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:44795030G>A	ENST00000296121.4	-	3	327	c.268C>T	c.(268-270)Cca>Tca	p.P90S	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	90										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		CCATCGGCTGGAGTTGGTTCT	0.338000													30	28					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27163025	27163025	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:27163025C>T	ENST00000288699.6	+	9	1232	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	DPYSL5_ENST00000401478.1_Silent_p.I358I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	358					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGCGTCATCTGGGAGAGAG	0.532000													24	60					0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30231314	30231314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:30231314G>A	ENST00000376075.3	+	4	430	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	COX4I2_ENST00000490030.1_Intron	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	119					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CGCAGCTCTGGTGATTTGGTG	0.537000													33	41					0	0	1	0	0
KLRAP1	10748	broad.mit.edu	37	12	10750659	10750659	+	RNA	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:10750659C>T	ENST00000510134.2	-	0	297																				breast(1)|large_intestine(1)|lung(1)	3						ATCAGTTTTCCCAGGCCTTTG	0.368000													54	66					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73450341	73450341	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:73450341G>A	ENST00000224721.6	+	19	2196	c.2191_splice	c.e19+1	p.G731_splice	CDH23_ENST00000299366.7_Splice_Site_p.G771_splice	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	726	Cadherin 7.				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						TGCCCGCTCAGGTGAGCCCCC	0.642000													3	5					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46058075	46058075	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:46058075G>A	ENST00000380095.1	+	1	803	c.741G>A	c.(739-741)caG>caA	p.Q247Q	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	247						keratin filament		p.Q247H(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GCTCTGGCCAGAAGTCCAGCT	0.672000													22	42					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45746145	45746145	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:45746145C>T	ENST00000403390.1	+	22	2334	c.2334C>T	c.(2332-2334)ttC>ttT	p.F778F	PFKL_ENST00000349048.4_Silent_p.F731F			P17858	K6PL_HUMAN	phosphofructokinase, liver	731					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		ACACTGATTTCGAGTGAGTTC	0.642000													10	15					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067293	62067293	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:62067293G>A	ENST00000404929.1	-	3	857	c.846C>T	c.(844-846)ttC>ttT	p.F282F	FAM161A_ENST00000405894.3_Silent_p.F282F	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	282					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GATTGGCTCGGAATTTCTTCT	0.388000													39	58					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252919	124252919	+	Silent	SNP	G	G	A	rs2320234	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:124252919G>A	ENST00000375013.2	-	1	339	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F107F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGATGACGAAAAAGAGAA	0.398000													45	17					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33334773	33334773	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:33334773G>A	ENST00000023064.4	-	10	1253	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	SLC7A9_ENST00000587772.1_Silent_p.A354A|SLC7A9_ENST00000590341.1_Silent_p.A354A	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	354			A -> T (in CSNU; type III; severe loss of amino acid transport activity).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	AAAAGATGATGGCGGGGGCTG	0.552000													16	26					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835968	247835968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:247835968G>A	ENST00000359688.2	-	1	397	c.376C>T	c.(376-378)Cct>Tct	p.P126S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAATGAAGAGGGAAACAAATG	0.493000													9	34					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66945163	66945163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:66945163C>T	ENST00000299752.4	-	14	2039	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	CDH16_ENST00000570262.1_Missense_Mutation_p.E536K|CDH16_ENST00000568632.1_Missense_Mutation_p.E519K|CDH16_ENST00000394055.3_Missense_Mutation_p.E616K|CDH16_ENST00000565796.1_Missense_Mutation_p.E616K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	616	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTGTGCACCTCCCCGGAGAAT	0.597000													8	20					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001090	142001090	+	RNA	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142001090A>T	ENST00000455382.2	+	0	256																											TTGGGGCAGAAAGTCGAGTTT	0.398000													5	10					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404448	197404448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:197404448G>A	ENST00000367397.1	+	5	2456	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E	CRB1_ENST00000544212.1_Missense_Mutation_p.G633E|CRB1_ENST00000367399.2_Missense_Mutation_p.G1040E|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.G1128E|CRB1_ENST00000367400.3_Missense_Mutation_p.G1152E			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1152	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						TTGCATGGAGGAAACTGTGAA	0.443000													11	37					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129383	152129383	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:152129383G>A	ENST00000316073.3	-	3	256	c.192C>T	c.(190-192)gaC>gaT	p.D64D		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	64	EF-hand 2.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTCCATCTCGGTCTTGATCTA	0.428000													65	58					0	0	1	0	0
CLEC2B	9976	broad.mit.edu	37	12	10007084	10007084	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:10007084C>T	ENST00000228438.2	-	4	1171		c.e4-1		CLEC2B_ENST00000538152.1_Silent_p.K10K	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B							integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						TAAGAAAATTCTTTAGAGACA	0.368000													12	38					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133485235	133485235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:133485235C>T	ENST00000402696.3	+	12	1929	c.1444C>T	c.(1444-1446)Ccc>Tcc	p.P482S	TF_ENST00000264998.3_Missense_Mutation_p.P355S	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	482	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CTGGAACATCCCCATGGGCCT	0.537000													106	120					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012615	189012615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:189012615G>A	ENST00000512729.1	-	7	1450	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	TRIML2_ENST00000326754.3_Missense_Mutation_p.S384F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	359	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GATACAGAGGGAAAACACAGG	0.473000													32	105					0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13033582	13033582	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:13033582G>A	ENST00000588025.1	-	14	1767	c.1627C>T	c.(1627-1629)Ccc>Tcc	p.P543S	FARSA_ENST00000423140.2_Missense_Mutation_p.P472S|FARSA_ENST00000314606.4_Missense_Mutation_p.P503S			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	503					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TCCTGTGTGGGAGGGGGCCTC	0.622000													31	61					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563743	176563743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:176563743G>A	ENST00000367662.3	+	3	2167	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D335N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	335					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGAAAGCGGGATGCTCGCTT	0.562000													15	43					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125760934	125760934	+	Silent	SNP	T	T	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:125760934T>G	ENST00000373647.4	+	10	1397	c.1263T>G	c.(1261-1263)ccT>ccG	p.P421P		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	421					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TACAGGAGCCTGTTCGATTTC	0.393000													47	94					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125570014	125570014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:125570014G>A	ENST00000518547.1	-	11	1611	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	MTSS1_ENST00000354184.4_Intron|MTSS1_ENST00000431961.2_Intron|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Missense_Mutation_p.P154S|MTSS1_ENST00000524090.1_Missense_Mutation_p.P270S|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Intron|MTSS1_ENST00000325064.5_Missense_Mutation_p.P384S	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	380					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGACCCGAGGGAGCAGGCGG	0.562000													3	14					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75969815	75969815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:75969815C>T	ENST00000274364.6	+	26	3545	c.3248C>T	c.(3247-3249)tCg>tTg	p.S1083L	IQGAP2_ENST00000379730.3_Missense_Mutation_p.S585L|IQGAP2_ENST00000396234.3_Missense_Mutation_p.S579L|IQGAP2_ENST00000502745.1_Missense_Mutation_p.S579L	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1083	Ras-GAP.				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)		CTGAAGAATTCGATCCATGAG	0.368000													63	45					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58145077	58145077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:58145077G>A	ENST00000184956.6	-	8	972	c.956C>T	c.(955-957)tCc>tTc	p.S319F	HEATR6_ENST00000585976.1_Missense_Mutation_p.S319F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	319	Poly-Lys.						binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTTTACTTTGGATTTTTTCTT	0.388000													35	32					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887578	3887578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:3887578C>T	ENST00000319331.3	+	2	2014	c.1253C>T	c.(1252-1254)tCg>tTg	p.S418L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	418	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATCCAGGATTCGAGTGAACAG	0.498000													17	112					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47593286	47593286	+	Missense_Mutation	SNP	C	C	T	rs112565536		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:47593286C>T	ENST00000273859.3	+	23	4438	c.4169C>T	c.(4168-4170)tCc>tTc	p.S1390F		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1390					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCAGCAAGTTCCTGTGCTATT	0.453000													62	47					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878920	24878920	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:24878920C>T	ENST00000382554.3	+	4	2238	c.1920C>T	c.(1918-1920)ccC>ccT	p.P640P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	640					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGCAGGTCCCAAAACACCCA	0.527000													5	8					0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53345628	53345628	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:53345628C>T	ENST00000550600.1	+	6	990	c.936C>T	c.(934-936)tcC>tcT	p.S312S	KRT18_ENST00000388837.2_Silent_p.S312S|KRT18_ENST00000388835.3_Silent_p.S312S			P05783	K1C18_HUMAN	keratin 18	312	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.			S -> R (in Ref. 8; CAA31369).	anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ACCTGGACTCCATGAGAAATC	0.552000													19	32					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86959195	86959195	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:86959195C>T	ENST00000234701.3	+	11	1944	c.1593C>T	c.(1591-1593)ctC>ctT	p.L531L	CLCA1_ENST00000394711.1_Silent_p.L531L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	531					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AAATCCTTCTCTGGGATCCCA	0.507000													39	39					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4537959	4537959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:4537959G>A	ENST00000306390.6	-	2	1497	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	346	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTCACTGGGACTTGGCCAC	0.597000													10	9					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50667245	50667245	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:50667245G>A	ENST00000355832.5	-	21	4176	c.4098C>T	c.(4096-4098)gtC>gtT	p.V1366V	ERCC6_ENST00000542458.1_Silent_p.V736V|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1366					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATGCTCAGGGACATTATCTT	0.438000								Direct reversal of damage;Nucleotide excision repair (NER)					34	72					0	0	1	0	0
NAGS	162417	broad.mit.edu	37	17	42084743	42084743	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:42084743G>A	ENST00000293404.3	+	5	1267	c.1149G>A	c.(1147-1149)ctG>ctA	p.L383L		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	383	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	TGCGCAGCCTGGACAAGCTGG	0.667000											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	26					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595369	55595369	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:55595369C>T	ENST00000378397.1	+	1	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	225					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)				TCACCACTATCCTGAAGATAC	0.483000										HNSCC(27;0.073)			23	94					0	0	1	0	0
FUT4	2526	broad.mit.edu	37	11	94278590	94278590	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:94278590T>A	ENST00000358752.2	+	1	1574	c.1291T>A	c.(1291-1293)Ttg>Atg	p.L431M	RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	431					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCGCAACGCGTTGCTCGCTGG	0.622000													10	27					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24229281	24229281	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:24229281A>T	ENST00000379177.1	+	11	2633	c.2206A>T	c.(2206-2208)Aag>Tag	p.K736*	ZFX_ENST00000379188.3_Nonsense_Mutation_p.K736*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.K686*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.K736*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.K775*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.K507*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TGAGCTTAAAAAGCATATGAA	0.413000													87	33					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37650494	37650494	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:37650494C>T	ENST00000252011.3	+	16	1542	c.1509C>T	c.(1507-1509)ggC>ggT	p.G503G	DHX35_ENST00000373323.4_Silent_p.G472G|DHX35_ENST00000373325.2_Silent_p.G503G	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	503						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GAAACTTCGGCTGTTCTCAGG	0.428000													110	129					0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45012130	45012130	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:45012130G>A	ENST00000372176.1	-	10	885	c.417C>T	c.(415-417)tcC>tcT	p.S139S	ELMO2_ENST00000445496.2_Silent_p.S44S|ELMO2_ENST00000290246.6_Silent_p.S227S|ELMO2_ENST00000439931.2_Silent_p.S227S|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Silent_p.S225S|ELMO2_ENST00000396391.1_Silent_p.S227S			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	227					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCTCCTGGTTGGAGCTGTGTC	0.423000													25	61					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884344	23884344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:23884344C>T	ENST00000355349.3	-	37	5581	c.5419G>A	c.(5419-5421)Ggc>Agc	p.G1807S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1807					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTTGCCGCCCTTGAGGGCG	0.622000													35	51					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1216763	1216763	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:1216763G>A	ENST00000304460.10	+	7	1034	c.978G>A	c.(976-978)ggG>ggA	p.G326G		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	326					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCGTCATTGGGTTCCGCGCCA	0.597000													40	61					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70477663	70477663	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:70477663G>A	ENST00000381280.4	+	8	1110	c.857_splice	c.e8+1	p.R286_splice	SMOC1_ENST00000361956.3_Splice_Site_p.R286_splice	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	286	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ACCTCCACACGGTAAGCCCCC	0.617000													14	23					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709307	176709307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:176709307G>A	ENST00000367662.3	+	14	5290	c.4126G>A	c.(4126-4128)Gag>Aag	p.E1376K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1376					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCAGAGGACGAGGGGCAGAA	0.483000													15	28					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189872820	189872820	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:189872820C>T	ENST00000304636.3	+	47	3647	c.3477C>T	c.(3475-3477)ccC>ccT	p.P1159P	COL3A1_ENST00000317840.5_Silent_p.P856P	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1159	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATCCAGGTCCCATTGGACCAC	0.453000													5	14					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83319312	83319312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:83319312C>T	ENST00000262752.2	-	22	2218	c.2211G>A	c.(2209-2211)atG>atA	p.M737I	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.M737I	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	737					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTCGCTTTTTCATGCTCCGTC	0.453000													11	1					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433498	69433498	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:69433498C>T	ENST00000317746.2	-	1	747	c.705G>A	c.(703-705)caG>caA	p.Q235Q		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	235					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CACTATAAAACTGGTCCCACT	0.318000													46	20					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23177452	23177452	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:23177452C>T	ENST00000389131.3	-	8	1785	c.1416G>A	c.(1414-1416)gaG>gaA	p.E472E		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	472	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCACCATGGCCTCCACGATGC	0.662000													29	61					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907493	65907493	+	Nonsense_Mutation	SNP	C	C	T	rs145463211		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:65907493C>T	ENST00000321892.4	+	13	3932	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*	BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1152*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1165*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R1291*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1291					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.R1165*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCCAAAAGATCGAGTGTTAGA	0.393000													11	39					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509677	23509677	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:23509677G>A	ENST00000296682.3	+	3	350	c.168G>A	c.(166-168)agG>agA	p.R56R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	56	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R56S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTGAAAAGGAACTATAATG	0.423000										HNSCC(3;0.000094)			30	107					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476012	120476012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:120476012G>A	ENST00000355622.6	+	3	1707	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	TLR4_ENST00000394487.4_Missense_Mutation_p.D496N|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	536					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTTTTCATTGGATACGTTTCC	0.408000													9	25					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15281203	15281203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:15281203C>T	ENST00000263388.2	-	27	5128	c.5053G>A	c.(5053-5055)Gac>Aac	p.D1685N		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1685					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GAGGCCACGTCCTTGTGCAGT	0.652000													15	33					0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46216633	46216633	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:46216633C>T	ENST00000371374.1	-	3	417	c.225_splice	c.e3-1	p.E76_splice	RCAN2_ENST00000306764.7_Splice_Site_p.E76_splice|RCAN2_ENST00000330430.6_Splice_Site_p.E30_splice|RCAN2_ENST00000405162.1_Splice_Site_p.E76_splice	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	30					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	p.E30K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TCAAATTTTTCCTGATAAAAA	0.368000													14	36					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395143	115395143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:115395143G>A	ENST00000393780.3	+	3	890	c.422G>A	c.(421-423)gGa>gAa	p.G141E	GAP43_ENST00000305124.6_Missense_Mutation_p.G105E	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	105					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GGCAAAGCAGGAGAAACTCCT	0.637000													31	23					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94048566	94048566	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:94048566G>A	ENST00000553484.1	+	20	2833	c.2679G>A	c.(2677-2679)ctG>ctA	p.L893L	UNC79_ENST00000256339.4_Silent_p.L716L|UNC79_ENST00000393151.2_Silent_p.L893L|UNC79_ENST00000555664.1_Silent_p.L893L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	893						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						CAGACAGCCTGGAGGATAGCC	0.557000													18	52					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138676448	138676448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:138676448C>T	ENST00000298480.5	+	26	3085	c.3011C>T	c.(3010-3012)tCg>tTg	p.S1004L	KCNT1_ENST00000486577.2_Missense_Mutation_p.S963L|KCNT1_ENST00000491806.2_Missense_Mutation_p.S971L|KCNT1_ENST00000371757.2_Missense_Mutation_p.S1004L|KCNT1_ENST00000490355.2_Missense_Mutation_p.S983L|KCNT1_ENST00000263604.3_Missense_Mutation_p.S985L|KCNT1_ENST00000488444.2_Missense_Mutation_p.S985L|KCNT1_ENST00000487664.1_Missense_Mutation_p.S959L			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1004						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACGCCGGGCTCGGGGTACCTC	0.682000													7	6					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183635317	183635317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:183635317G>A	ENST00000511685.1	+	13	2422	c.2299G>A	c.(2299-2301)Gga>Aga	p.G767R	TENM3_ENST00000406950.2_Missense_Mutation_p.G767R|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GTGCCAGCCTGGATGGAGAGG	0.502000													36	27					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22915719	22915719	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:22915719C>T	ENST00000374644.4	+	5	1407	c.1335C>T	c.(1333-1335)gtC>gtT	p.V445V	EPHA8_ENST00000538803.1_Silent_p.V445V|EPHA8_ENST00000166244.3_Intron	NM_001006943.1	NP_001006944.1	P29322	EPHA8_HUMAN	EPH receptor A8	0	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAAACTCCGTCCCGCAGCGTC	0.667000													19	11					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30973872	30973872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:30973872C>T	ENST00000298139.5	+	20	2525	c.2276C>T	c.(2275-2277)tCc>tTc	p.S759F		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	759	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTCTTTAGTTCCCACTGGGAA	0.348000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				11	29					0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45735996	45735996	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:45735996G>A	ENST00000290158.4	+	5	1013	c.606G>A	c.(604-606)ttG>ttA	p.L202L	KPNB1_ENST00000577918.1_3'UTR|KPNB1_ENST00000540627.1_Silent_p.L57L|KPNB1_ENST00000537679.1_Silent_p.L57L|KPNB1_ENST00000535458.2_Silent_p.L57L	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	202					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TGAACTCATTGGAGTTCACCA	0.378000													40	41					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125007	104125007	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:104125007G>A	ENST00000259407.2	-	4	1068	c.960C>T	c.(958-960)ttC>ttT	p.F320F	BAAT_ENST00000395051.3_Silent_p.F320F	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	320					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CAATGAAGAGGAATTGCCCCT	0.473000													29	51					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43110413	43110413	+	Missense_Mutation	SNP	C	C	T	rs141315303	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:43110413C>T	ENST00000428554.2	+	20	2968	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C	CCDC30_ENST00000340612.4_Missense_Mutation_p.R609C|CCDC30_ENST00000390640.4_Missense_Mutation_p.R398C|CCDC30_ENST00000342022.4_Missense_Mutation_p.R609C|CCDC30_ENST00000507855.1_Missense_Mutation_p.R398C			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	609										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAATAGTCTTCGTCTCACACA	0.388000													39	42					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307514	140307514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140307514C>T	ENST00000253807.2	+	1	1037	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S346L|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_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)			CTGACTCTTTCGAACCCAGTA	0.517000													99	80					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17541254	17541254	+	Silent	SNP	C	C	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:17541254C>A	ENST00000229922.2	+	9	1409	c.877C>A	c.(877-879)Cgg>Agg	p.R293R	CAP2_ENST00000378990.2_Silent_p.R267R|CAP2_ENST00000465994.1_Silent_p.R229R|CAP2_ENST00000489374.1_Silent_p.R181R|CAP2_ENST00000493172.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	293					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCCCAGCCTGCGGGCTCAAGG	0.468000													130	195					6.59513e-52	6.69458e-52	1	1	0
CPAMD8	27151	broad.mit.edu	37	19	17091331	17091331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:17091331G>A	ENST00000443236.1	-	14	1733	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	521						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTGTTAAACGAATCGGTTTC	0.592000													24	42					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56823952	56823952	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:56823952G>A	ENST00000229201.4	-	10	1174	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	TIMELESS_ENST00000554616.1_Silent_p.F341F|TIMELESS_ENST00000553532.1_Silent_p.F341F	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	341					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGTCTCTGAGGAAGAGCCTCA	0.517000													17	28					0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68598497	68598497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:68598497C>T	ENST00000570495.1	+	5	2099	c.1807C>T	c.(1807-1809)Cat>Tat	p.H603Y	ZFP90_ENST00000398253.2_Missense_Mutation_p.H603Y|ZFP90_ENST00000563169.2_Missense_Mutation_p.H603Y|RP11-615I2.7_ENST00000571720.1_RNA			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	603					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)		TCAGAGAATTCATACTGGAGA	0.398000													50	76					0	0	1	0	0
SCO1	6341	broad.mit.edu	37	17	10590151	10590151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:10590151G>A	ENST00000255390.5	-	5	724	c.664C>T	c.(664-666)Ccc>Tcc	p.P222S	SCO1_ENST00000577427.1_Missense_Mutation_p.P191S	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	222					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						ACCAGTTTGGGAGAAAATTCT	0.423000													18	66					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31887706	31887706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:31887706C>T	ENST00000396184.3	-	10	1060	c.856G>A	c.(856-858)Gat>Aat	p.D286N	PDE1C_ENST00000396191.1_Missense_Mutation_p.D286N|PDE1C_ENST00000396182.2_Missense_Mutation_p.D286N|PDE1C_ENST00000321453.7_Missense_Mutation_p.D286N|PDE1C_ENST00000396193.1_Missense_Mutation_p.D346N	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	286	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ATAGCTGGATCAGACCTGAAC	0.388000													27	42					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25777005	25777005	+	Silent	SNP	C	C	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:25777005C>A	ENST00000397076.2	+	5	782	c.480C>A	c.(478-480)gcC>gcA	p.A160A	SLC17A4_ENST00000377905.4_Intron|SLC17A4_ENST00000439485.2_Intron			Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	374					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCAGAGCAGCCTTCAGTTTAC	0.542000													55	72					2.69441e-44	2.73317e-44	1	1	0
LCE1B	353132	broad.mit.edu	37	1	152784959	152784959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:152784959C>T	ENST00000360090.3	+	1	513	c.37C>T	c.(37-39)Cct>Tct	p.P13S		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	13	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGCCAGCCccctcccaagtg	0.597000													101	97					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373853	138373853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:138373853G>A	ENST00000409968.1	+	18	3710	c.3532G>A	c.(3532-3534)Gaa>Aaa	p.E1178K	THSD7B_ENST00000413152.2_Missense_Mutation_p.E1150K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.E1181K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTCCTGAATGAAAATTGCTT	0.453000													38	80					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159778089	159778089	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:159778089C>T	ENST00000321935.6	+	4	281	c.195C>T	c.(193-195)ttC>ttT	p.F65F	FCRL6_ENST00000392235.3_Silent_p.F58F|FCRL6_ENST00000368106.3_Silent_p.F58F|FCRL6_ENST00000339348.5_Silent_p.F58F			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	58	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ATGGAAAATTCCTTCATTTCT	0.502000													29	13					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32091189	32091189	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:32091189C>T	ENST00000396184.3	-	3	309	c.105G>A	c.(103-105)agG>agA	p.R35R	PDE1C_ENST00000396191.1_Silent_p.R35R|PDE1C_ENST00000396182.2_Silent_p.R35R|PDE1C_ENST00000321453.7_Silent_p.R35R|PDE1C_ENST00000396193.1_Intron	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	35					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCTTATATTTCCTCCTGTAAG	0.468000													10	22					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38572549	38572549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:38572549C>T	ENST00000399017.2	+	45	8614	c.5867C>T	c.(5866-5868)tCc>tTc	p.S1956F	TTC3_ENST00000354749.2_Missense_Mutation_p.S1956F|TTC3_ENST00000355666.1_Missense_Mutation_p.S1956F|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1956					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)				GGTGCAAGTTCCTGTGAAATA	0.428000													15	36					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675353	100675353	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:100675353C>A	ENST00000306151.4	+	3	720	c.656C>A	c.(655-657)aCa>aAa	p.T219K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	219	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCATTAACAAGTATGCCT	0.473000													77	185					4.05715e-38	4.10987e-38	1	1	0
C1orf198	84886	broad.mit.edu	37	1	230979413	230979413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:230979413G>A	ENST00000366663.5	-	3	754	c.614C>T	c.(613-615)gCc>gTc	p.A205V	C1orf198_ENST00000523410.1_Missense_Mutation_p.A75V|C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000470540.1_Missense_Mutation_p.A167V	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	205										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CTGGAACTCGGCCTCAGGCCC	0.637000													33	94					0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406126	3406126	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:3406126C>T	ENST00000304936.2	+	1	238	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	62					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						TGTACTTCTTCCTCAGCAACC	0.517000													62	83					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136294	55136294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:55136294C>T	ENST00000314706.3	+	1	935	c.935C>T	c.(934-936)cCa>cTa	p.P312L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGCTGAACCCACTAATCTAT	0.388000													73	67					0	0	1	0	0
MMD2	221938	broad.mit.edu	37	7	4965103	4965103	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:4965103C>T	ENST00000404774.3	-	2	302	c.108G>A	c.(106-108)gcG>gcA	p.A36A	MMD2_ENST00000406755.1_Silent_p.A36A|MMD2_ENST00000401401.3_Silent_p.A36A	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	36						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CACAGTTGGCCGCATGTTCAT	0.602000													39	83					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76791674	76791674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:76791674G>A	ENST00000261183.3	-	8	951	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	OSBPL8_ENST00000393249.2_Missense_Mutation_p.R116C|OSBPL8_ENST00000393250.4_Missense_Mutation_p.R116C	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	158	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AGAGTACCACGAATCTACAGA	0.353000													16	20					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124315112	124315112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:124315112G>A	ENST00000409039.3	+	25	4082	c.4057G>A	c.(4057-4059)Gaa>Aaa	p.E1353K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1353	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAACTTATGGAAAAAACGTC	0.363000													14	26					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770908	37770908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:37770908C>T	ENST00000402918.1	-	3	1452	c.667G>A	c.(667-669)Ggc>Agc	p.G223S	ELFN2_ENST00000349653.3_Missense_Mutation_p.G223S|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	223	LRRCT.					cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGCGGGTAGCCGGCAAACTCC	0.657000													9	16					0	0	1	0	0
DOK3	79930	broad.mit.edu	37	5	176931915	176931915	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:176931915C>T	ENST00000312943.6	-	5	634	c.472_splice	c.e5-1	p.V158_splice	DOK3_ENST00000501403.2_Splice_Site_p.V158_splice|DOK3_ENST00000377112.4_Splice_Site_p.V56_splice|DOK3_ENST00000357198.4_Splice_Site_p.V214_splice	NM_001144875.1	NP_001138347.1	Q7L591	DOK3_HUMAN	docking protein 3	214	PH.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GAAACTCGCCCACTGTGGCAG	0.672000													12	31					0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72105876	72105876	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:72105876G>A	ENST00000398840.2	+	0	1085							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						GGCCAGCATGGAGACGCGTGT	0.652000													6	14					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43530502	43530502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:43530502G>A	ENST00000401740.1	-	1	126	c.23C>T	c.(22-24)cCc>cTc	p.P8L	PSG11_ENST00000403486.1_Missense_Mutation_p.P8L|PSG11_ENST00000306322.7_Missense_Mutation_p.P8L|PSG11_ENST00000320078.7_Missense_Mutation_p.P8L			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	8					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CTCTGTGCAGGGAGGGGCTGA	0.587000													23	114					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42784475	42784475	+	Silent	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:42784475G>A	ENST00000310232.6	-	8	983	c.900C>T	c.(898-900)gtC>gtT	p.V300V	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	300										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGTCTGGATAGACAGACAACT	0.552000													116	94					0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14720306	14720306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:14720306G>A	ENST00000380911.3	-	2	630	c.586C>T	c.(586-588)Cct>Tct	p.P196S		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	196	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GCGGCTCCAGGAAAATGAACA	0.483000													25	16					0	0	1	0	0
C6orf201	404220	broad.mit.edu	37	6	4099346	4099346	+	Silent	SNP	C	C	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:4099346C>T	ENST00000380175.4	+	3	963	c.198C>T	c.(196-198)atC>atT	p.I66I	C6orf201_ENST00000430835.2_Silent_p.I66I|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Silent_p.I69I	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	66										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAAGAAAAATCATCAACAATG	0.418000													52	66					0	0	1	0	0
KRT18P55	284085	broad.mit.edu	37	17	26603815	26603815	+	RNA	SNP	G	G	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:26603815G>A	ENST00000577198.1	-	0	1146					NR_028334.1																						TGACCTTGTGGAGCCCATGGA	0.502000													25	14					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228506831	228506831	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:228506831delC	ENST00000570156.2	+	65	17323	c.17249delC	c.(17248-17250)gcfs	p.A5750fs	OBSCN_ENST00000366707.4_Frame_Shift_Del_p.A2427fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.A1912fs|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.A4793fs|OBSCN_ENST00000422127.1_Frame_Shift_Del_p.A4793fs	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4793	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATGAGCTGGCCCGCACTGGA	0.647													9	29	---	---	---	---					
NRBP1	29959	broad.mit.edu	37	2	27663753	27663754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:27663753_27663754insC	ENST00000233557.3	+	15	2107_2108	c.1275_1276insC	c.(1273-1278)gtccccfs	p.VP425fs	NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.VP425fs|NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.VP433fs			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	425					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACCTGTCGTGCCCCCCTCTGT	0.599													20	63	---	---	---	---					
UBA3	9039	broad.mit.edu	37	3	69112644	69112649	+	In_Frame_Del	DEL	AATATG	AATATG	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:69112644_69112649delAATATG	ENST00000361055.4	-	8	532_537	c.478_483delCATATT	c.(478-483)del	p.HI160del	UBA3_ENST00000415609.2_In_Frame_Del_p.HI119del|UBA3_ENST00000349511.4_In_Frame_Del_p.HI146del|UBA3_ENST00000540295.1_5'UTR	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	160	Interaction with UBE2M N-terminus.				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CACATACAATAATATGAAATTCTACA	0.325													7	18	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5352666	5352668	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:5352666_5352668delGAG	ENST00000399537.4	-	27	8202_8204	c.7854_7856delCTC	c.(7852-7857)tca>tc	p.SS2670del	TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2670	Ser-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		ggaggaggatgaggaggaggagg	0.660													2	4	---	---	---	---					
SERPING1	710	broad.mit.edu	37	11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:57365774_57365776delCTG	ENST00000403558.1	+	1	499_501	c.133_135delCTG	c.(133-135)del	p.L49del	SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000278407.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	15					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714													3	3	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													3	5	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:29110406delT	ENST00000564580.1	+	0	1098																											TTAAAAAATCTTTTTTTTTTT	0.299													7	18	---	---	---	---					
TCF25	22980	broad.mit.edu	37	16	89964979	89964979	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:89964979delC	ENST00000263346.8	+	10	1093	c.1037delC	c.(1036-1038)gcfs	p.A346fs	TCF25_ENST00000263347.7_Frame_Shift_Del_p.A111fs	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	346					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TTCTACCTGGCCCTCTACAAG	0.572													33	118	---	---	---	---					
LRRC37BP1	147172	broad.mit.edu	37	17	28960996	28960997	+	RNA	INS	-	-	TC			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:28960996_28960997insTC	ENST00000417404.1	+	0	1269				SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA																							tttttctttttttttttttttt	0.302													17	17	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9058690	9058690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9058690delT	ENST00000397910.4	-	3	28959	c.28756delA	c.(28756-28758)ggfs	p.R9586fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9588	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						CTGGTCTCCCTCAGTCCAGGG	0.507													9	19	---	---	---	---					
STRN4	29888	broad.mit.edu	37	19	47226405	47226407	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:47226405_47226407delGCT	ENST00000391910.3	-	13	2200_2202	c.1750_1752delAGC	c.(1750-1752)del	p.S584del	STRN4_ENST00000539396.1_In_Frame_Del_p.S458del|STRN4_ENST00000263280.6_In_Frame_Del_p.S577del|STRN4_ENST00000594357.2_5'UTR			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	577						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGCAGGCCGGGCTGCTGCTGCTG	0.700													2	4	---	---	---	---