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
NLN	57486	broad.mit.edu	37	5	65105928	65105928	+	Silent	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr5:65105928G>T	ENST00000380985.5	+	11	1957	c.1779G>T	c.(1777-1779)tcG>tcT	p.S593S	NLN_ENST00000502464.1_Silent_p.S489S	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	593					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CCAACACATCGCTGGATGCTG	0.398000													19	134					4.96729e-08	5.742e-08	1	1	0
AFF2	2334	broad.mit.edu	37	X	147924492	147924492	+	Missense_Mutation	SNP	A	A	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:147924492A>T	ENST00000370460.2	+	6	1655	c.1176A>T	c.(1174-1176)gaA>gaT	p.E392D	AFF2_ENST00000286437.5_Missense_Mutation_p.E33D|AFF2_ENST00000370457.5_Missense_Mutation_p.E359D|AFF2_ENST00000370458.1_Missense_Mutation_p.E359D|AFF2_ENST00000342251.3_Missense_Mutation_p.E359D	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	392					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTATAGGAATCGCAGCATC	0.348000													91	149					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4259890	4259890	+	Missense_Mutation	SNP	G	G	T	rs142632659		TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr7:4259890G>T	ENST00000404826.2	+	39	5828	c.5689G>T	c.(5689-5691)Ggg>Tgg	p.G1897W	SDK1_ENST00000389531.3_Missense_Mutation_p.G1877W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1897					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)		TATCACAGCCGGGCCAGCCGA	0.577000													35	79					4.67007e-22	6.8822e-22	1	1	0
NME8	51314	broad.mit.edu	37	7	37934117	37934117	+	Silent	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr7:37934117G>T	ENST00000199447.4	+	16	1821	c.1449G>T	c.(1447-1449)gtG>gtT	p.V483V	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.V483V	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	483	NDK 3.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TGACACAGGTGAAGAAAATGT	0.328000													13	65					7.92052e-27	1.22452e-26	1	1	0
RPGR	6103	broad.mit.edu	37	X	38146137	38146137	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:38146137C>A	ENST00000378505.2	-	15	2291	c.2115G>T	c.(2113-2115)agG>agT	p.R705S	RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000342811.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	694	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cttccccatccctcttcttcc	0.547000													30	57					4.22769e-11	5.19697e-11	1	1	0
HDC	3067	broad.mit.edu	37	15	50544885	50544885	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr15:50544885C>A	ENST00000267845.3	-	8	1276	c.874G>T	c.(874-876)Ggg>Tgg	p.G292W	HDC_ENST00000543581.1_Missense_Mutation_p.G292W	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	292					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TACTCAATCCCCTTCAGAAAC	0.562000													18	31					8.34094e-07	9.30051e-07	1	1	0
RFX6	222546	broad.mit.edu	37	6	117243315	117243315	+	Splice_Site	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr6:117243315G>T	ENST00000332958.2	+	13	1453		c.e13+1			NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6						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						AGTTATTAAGGTACTTTTTAA	0.398000													31	51					2.61193e-14	3.4104e-14	1	1	0
CPB1	1360	broad.mit.edu	37	3	148562355	148562355	+	Missense_Mutation	SNP	T	T	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr3:148562355T>C	ENST00000491148.1	+	8	1001	c.667T>C	c.(667-669)Tac>Cac	p.Y223H	CPB1_ENST00000282957.4_Missense_Mutation_p.Y223H			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	223					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TATTGATGGCTACATCTACAC	0.428000													32	56					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63557224	63557224	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:63557224C>A	ENST00000374852.3	-	9	1092	c.1025G>T	c.(1024-1026)tGg>tTg	p.W342L	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.W342L	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	342	Myotubularin phosphatase.|Substrate binding (By similarity).					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TGTGCGGTCCCATCCATCAGA	0.458000													21	66					1.00905e-13	1.29735e-13	1	1	0
MMP25	64386	broad.mit.edu	37	16	3097464	3097464	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr16:3097464G>T	ENST00000336577.4	+	2	385	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S		NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	50					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CCCTGCCCAGGCCCAGCTGCA	0.662000													39	105					2.45108e-15	3.2681e-15	1	1	0
CD248	57124	broad.mit.edu	37	11	66084240	66084240	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr11:66084240G>T	ENST00000311330.3	-	1	275	c.259C>A	c.(259-261)Ctg>Atg	p.L87M	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	87	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.L87M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGCCGCTGCAGCCCGATCCAC	0.731000													6	22					0.0381472	0.0387625	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62849186	62849186	+	Missense_Mutation	SNP	A	A	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr4:62849186A>C	ENST00000512091.1	+	18	3644	c.2897A>C	c.(2896-2898)tAt>tCt	p.Y966S	LPHN3_ENST00000508693.1_Missense_Mutation_p.Y1034S|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y1034S|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y966S|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y1034S|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y1034S|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y966S|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y1034S|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y966S|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y966S|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y966S|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y1034S|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y966S|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y1034S|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y966S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	953					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						GTGCAGCTTTATATCATGCTG	0.478000													13	77					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786327	19786327	+	Missense_Mutation	SNP	T	T	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr9:19786327T>C	ENST00000341998.2	-	1	599	c.538A>G	c.(538-540)Atg>Gtg	p.M180V	SLC24A2_ENST00000286344.3_Missense_Mutation_p.M180V	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	180					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CCTGCAGCCATGAAGGTGGCT	0.478000													22	29					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670381	158670381	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:158670381C>A	ENST00000359610.2	-	1	105	c.62G>T	c.(61-63)tGg>tTg	p.W21L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	21					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)					AGACTTAACCCAGGAATAAGG	0.443000													37	82					3.75037e-06	4.12705e-06	1	1	0
PDK3	5165	broad.mit.edu	37	X	24549852	24549852	+	Missense_Mutation	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:24549852G>A	ENST00000441463.2	+	10	1042	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	PDK3_ENST00000379162.4_Missense_Mutation_p.E348K	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	348	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GTATTCCATGGAAGGAGTGGG	0.363000													120	282					0	0	1	0	0
EFNB1	1947	broad.mit.edu	37	X	68059870	68059870	+	Silent	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:68059870C>A	ENST00000204961.4	+	4	1347	c.567C>A	c.(565-567)gtC>gtA	p.V189V		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	189			V -> A (in dbSNP:rs16989105).		cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						ACAACACTGTCAAGATGGCCA	0.567000													32	69					1.7881e-09	2.12548e-09	1	1	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127527	32127527	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr21:32127527C>A	ENST00000335093.3	-	1	219	c.170G>T	c.(169-171)gGa>gTa	p.G57V		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	57						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						AGagccatatccacagccata	0.512000													152	79					1.2273e-65	2.13296e-65	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140719188	140719188	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr5:140719188G>T	ENST00000394576.2	+	1	650	c.650G>T	c.(649-651)gGg>gTg	p.G217V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTCTGATGGGGGTGACCCA	0.587000													56	46					1.86277e-20	2.6978e-20	1	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906830	164906830	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr3:164906830G>T	ENST00000475390.1	-	2	2232	c.1789C>A	c.(1789-1791)Ctc>Atc	p.L597I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L597I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	597	LRRCT 2.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CGGTGCGTGAGGTTCTCAGGG	0.552000										HNSCC(40;0.11)			28	53					4.59853e-10	5.51823e-10	1	1	0
CAMSAP1	157922	broad.mit.edu	37	9	138714221	138714221	+	Silent	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr9:138714221G>A	ENST00000389532.4	-	11	2350	c.2286C>T	c.(2284-2286)agC>agT	p.S762S	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.S773S|CAMSAP1_ENST00000312405.6_Silent_p.S484S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	762						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CAATGTATCTGCTGAAAACCA	0.567000													25	65					0	0	1	0	0
THBD	7056	broad.mit.edu	37	20	23028857	23028857	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr20:23028857C>T	ENST00000377103.2	-	1	1521	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	429	EGF-like 5.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	ATGTAGCCTTCAGGGCACTCA	0.617000													6	71					0	0	1	0	0
REM2	161253	broad.mit.edu	37	14	23354157	23354157	+	Silent	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr14:23354157C>A	ENST00000267396.4	+	2	501	c.378C>A	c.(376-378)ggC>ggA	p.G126G	REM2_ENST00000536884.1_Silent_p.G126G	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	126					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GCGGCGTGGGCAAGAGCACCC	0.612000													23	62					1.10513e-12	1.37868e-12	1	1	0
NCK1	4690	broad.mit.edu	37	3	136664548	136664548	+	Missense_Mutation	SNP	A	A	G			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr3:136664548A>G	ENST00000469404.1	+	2	249	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	NCK1_ENST00000288986.2_Missense_Mutation_p.Y117C|NCK1_ENST00000481752.1_Missense_Mutation_p.Y117C	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	117	SH3 1.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						AAATTTAACTACATGGCTGAG	0.463000													40	154					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129380944	129380944	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr6:129380944C>A	ENST00000421865.2	+	3	348	c.299C>A	c.(298-300)aCa>aAa	p.T100K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	100	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACCCGATTACAAATGCTATT	0.338000													15	62					3.52763e-06	3.89896e-06	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5237155	5237155	+	Missense_Mutation	SNP	A	A	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr5:5237155A>T	ENST00000274181.7	+	14	2235	c.2097A>T	c.(2095-2097)aaA>aaT	p.K699N	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	699	Cys-rich.				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						ATAAAGTCAAAGATGGGACTC	0.373000													73	41					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148653597	148653597	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr4:148653597G>T	ENST00000336498.3	+	1	384	c.145G>T	c.(145-147)Gcg>Tcg	p.A49S		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	49	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CCTCATCGCTGCGACGAAAAG	0.647000													32	41					9.04072e-19	1.27992e-18	1	1	0
TLK2	11011	broad.mit.edu	37	17	60663513	60663513	+	Missense_Mutation	SNP	G	G	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr17:60663513G>C	ENST00000582809.1	+	17	1642	c.939G>C	c.(937-939)gaG>gaC	p.E313D	TLK2_ENST00000326270.9_Missense_Mutation_p.E484D|TLK2_ENST00000343388.7_Missense_Mutation_p.E430D|TLK2_ENST00000346027.5_Missense_Mutation_p.E462D|TLK2_ENST00000542523.1_Missense_Mutation_p.E430D			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	484					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E461D(1)|p.E484D(1)|p.E462D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ATCTAACAGAGCAAAGATACG	0.303000													15	35					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141267533	141267533	+	Missense_Mutation	SNP	G	G	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:141267533G>C	ENST00000389484.3	-	52	9333	c.8362C>G	c.(8362-8364)Cca>Gca	p.P2788A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2788	LDL-receptor class A 17.				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)		CTTCCATCTGGACAGTCCCTT	0.527000										TSP Lung(27;0.18)			41	108					0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58639494	58639494	+	Missense_Mutation	SNP	C	C	G			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr19:58639494C>G	ENST00000598312.1	-	4	1610	c.1377G>C	c.(1375-1377)caG>caC	p.Q459H	ZNF329_ENST00000358067.4_Missense_Mutation_p.Q459H	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CTTTGCCACACTGATTACACT	0.498000													37	31					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72372748	72372748	+	Silent	SNP	G	G	T	rs77268168		TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr12:72372748G>T	ENST00000333850.3	+	7	963	c.822G>T	c.(820-822)acG>acT	p.T274T		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	274					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTGGCTTCACGGTGAGGCCGG	0.507000													66	56					4.10029e-35	6.75342e-35	1	1	0
BACE2	25825	broad.mit.edu	37	21	42647371	42647371	+	Silent	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr21:42647371C>T	ENST00000330333.6	+	9	1840	c.1377C>T	c.(1375-1377)ccC>ccT	p.P459P	BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Silent_p.P409P	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	459					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				ACTGTGTCCCCGCTCAGTCTT	0.527000													11	90					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544166	82544166	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr7:82544166C>A	ENST00000423517.2	-	7	13473	c.13136G>T	c.(13135-13137)gGa>gTa	p.G4379V	PCLO_ENST00000333891.8_Missense_Mutation_p.G4379V|PCLO_ENST00000437081.1_Missense_Mutation_p.G1099V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4310					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCAGGGGTCCAGCTGCAGC	0.517000													19	48					5.35267e-07	6.04875e-07	1	1	0
MYO16	23026	broad.mit.edu	37	13	109610081	109610081	+	Silent	SNP	T	T	G			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr13:109610081T>G	ENST00000356711.2	+	17	2031	c.1905T>G	c.(1903-1905)cgT>cgG	p.R635R	MYO16_ENST00000457511.2_Silent_p.R147R|MYO16_ENST00000251041.5_Silent_p.R635R|MYO16_ENST00000357550.2_Silent_p.R635R	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	635	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAGGGGAGCGTTCTCTGAACA	0.463000													23	30					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70781668	70781668	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:70781668G>T	ENST00000373719.3	+	15	2112	c.1895G>T	c.(1894-1896)gGa>gTa	p.G632V	OGT_ENST00000373701.3_Missense_Mutation_p.G622V	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	632					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATCAGGATGGAATTCATATC	0.368000													21	63					6.33239e-15	8.39874e-15	1	1	0
LIF	3976	broad.mit.edu	37	22	30639993	30639993	+	Missense_Mutation	SNP	C	C	T	rs41281637	byFrequency	TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr22:30639993C>T	ENST00000249075.3	-	3	411	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	LIF_ENST00000403987.3_Missense_Mutation_p.R26H	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	86					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			AAGTCCGTCACGTTGGGGCCA	0.627000													4	53					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42875532	42875532	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr13:42875532G>T	ENST00000025301.2	+	8	2825	c.2650G>T	c.(2650-2652)Gta>Tta	p.V884L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	884					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GCATACGATAGTAAATGAAAC	0.338000													4	31					2.56e-06	2.84194e-06	1	1	0
SNTG2	54221	broad.mit.edu	37	2	1271287	1271287	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:1271287G>T	ENST00000308624.5	+	14	1357	c.1228G>T	c.(1228-1230)Gcc>Tcc	p.A410S	SNTG2_ENST00000407292.1_Missense_Mutation_p.A283S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	410	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGCGAGCTGGCCATGTGGGA	0.532000													13	27					1.52009e-12	1.88701e-12	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141609303	141609303	+	Missense_Mutation	SNP	C	C	G			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:141609303C>G	ENST00000389484.3	-	28	5600	c.4629G>C	c.(4627-4629)atG>atC	p.M1543I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1543					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)		TGATTAGACACATGTGAGAGC	0.438000										TSP Lung(27;0.18)			38	113					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52849168	52849168	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:52849168C>A	ENST00000371568.3	-	13	2155	c.1937G>T	c.(1936-1938)cGg>cTg	p.R646L	ORC1_ENST00000371566.1_Missense_Mutation_p.R646L	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	646	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	p.R646L(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GACCACAAGCCGGGCCTCCTT	0.542000													15	71					3.27435e-08	3.80247e-08	1	1	0
C6orf118	168090	broad.mit.edu	37	6	165715557	165715557	+	Missense_Mutation	SNP	C	C	G			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr6:165715557C>G	ENST00000230301.8	-	2	274	c.254G>C	c.(253-255)cGg>cCg	p.R85P	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	85										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)		CCCCTTGGGCCGGTGGGCATT	0.652000													35	85					0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230805105	230805105	+	Missense_Mutation	SNP	A	A	G			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:230805105A>G	ENST00000534989.1	+	7	756	c.421A>G	c.(421-423)Ata>Gta	p.I141V	COG2_ENST00000494371.1_3'UTR|COG2_ENST00000366669.4_Missense_Mutation_p.I200V|COG2_ENST00000535166.1_Missense_Mutation_p.I84V|COG2_ENST00000366668.3_Missense_Mutation_p.I200V			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	200					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CTTGCAGCGTATAGCTGGCAT	0.423000													70	74					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030789	79030789	+	Silent	SNP	T	T	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr5:79030789T>C	ENST00000446378.2	+	2	6232	c.6201T>C	c.(6199-6201)tcT>tcC	p.S2067S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2067						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAATCTCCTCTTCTGTCAAAA	0.458000													96	53					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475181	140475181	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr5:140475181G>T	ENST00000194155.4	+	1	955	c.807G>T	c.(805-807)agG>agT	p.R269S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		269	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTGCCAGGGATTTAGACA	0.468000													15	117					7.05477e-17	9.60973e-17	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3228416	3228416	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:3228416C>A	ENST00000217939.6	-	7	7982	c.7828G>T	c.(7828-7830)Gac>Tac	p.D2610Y		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2610	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCCCCGGCGTCCACCGAGGAG	0.622000													28	55					4.74835e-14	6.16797e-14	1	1	0
ZIK1	284307	broad.mit.edu	37	19	58101737	58101737	+	Silent	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr19:58101737G>T	ENST00000597850.1	+	4	773	c.558G>T	c.(556-558)ctG>ctT	p.L186L	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Silent_p.L131L|ZIK1_ENST00000536878.2_Silent_p.L173L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAGGTCCCTGGTCTTTCCTG	0.488000													43	45					1.15183e-24	1.72775e-24	1	1	0
SLC38A2	54407	broad.mit.edu	37	12	46764611	46764611	+	Missense_Mutation	SNP	T	T	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr12:46764611T>A	ENST00000256689.5	-	3	590	c.146A>T	c.(145-147)cAg>cTg	p.Q49L	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	49	Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TAAAAAGTTCTGGTTTTCAGG	0.303000													5	25					0	0	1	0	0
FXYD7	53822	broad.mit.edu	37	19	35642306	35642306	+	Missense_Mutation	SNP	T	T	G	rs73041994	byFrequency	TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr19:35642306T>G	ENST00000588265.1	+	3	266	c.211T>G	c.(211-213)Tgt>Ggt	p.C71G	FXYD7_ENST00000270310.2_Intron|FXYD7_ENST00000586063.1_Intron			P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7	46						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CTACCCGCTATGTCCTGTCTT	0.562000													5	72					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7604137	7604137	+	Missense_Mutation	SNP	G	G	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr17:7604137G>C	ENST00000316024.5	+	4	3069	c.721G>C	c.(721-723)Gac>Cac	p.D241H	WRAP53_ENST00000396463.2_Missense_Mutation_p.D241H|WRAP53_ENST00000534050.1_Missense_Mutation_p.D208H|WRAP53_ENST00000457584.2_Missense_Mutation_p.D241H|WRAP53_ENST00000431639.2_Missense_Mutation_p.D241H			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	241					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						AGCCCAGCCAGACACCTCCTA	0.552000													46	52					0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92617313	92617313	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr10:92617313G>T	ENST00000371721.3	-	1	358	c.116C>A	c.(115-117)cCg>cAg	p.P39Q	HTR7_ENST00000336152.3_Missense_Mutation_p.P39Q|HTR7_ENST00000277874.6_Missense_Mutation_p.P39Q|HTR7_ENST00000371719.2_Missense_Mutation_p.P39Q			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	39					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GCCCGCGACCGGGTCGGCGCC	0.746000													3	7					1.23904e-05	1.34008e-05	1	1	0
NOD2	64127	broad.mit.edu	37	16	50733866	50733866	+	Splice_Site	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr16:50733866G>T	ENST00000300589.2	+	2	645		c.e2+1		NOD2_ENST00000526417.2_Splice_Site	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2						activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GTCCCAGAGGGTGAGGCACTC	0.532000													24	54					2.39556e-15	3.21108e-15	1	1	0
ZNF761	388561	broad.mit.edu	37	19	53945618	53945618	+	RNA	SNP	A	A	C	rs4803127	by1000genomes	TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr19:53945618A>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CCAGAACCTGAAGTGTCTGAG	0.473000													5	94					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169529934	169529934	+	Nonsense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:169529934G>T	ENST00000367796.3	-	4	645	c.444C>A	c.(442-444)taC>taA	p.Y148*	F5_ENST00000367797.3_Nonsense_Mutation_p.Y148*|F5_ENST00000546081.1_Nonsense_Mutation_p.Y11*			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	148	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATTCATAGGTGTATTCTCGGC	0.507000													24	219					1.96895e-08	2.30779e-08	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48311826	48311826	+	Missense_Mutation	SNP	A	A	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr7:48311826A>T	ENST00000435803.1	+	17	2587	c.2563A>T	c.(2563-2565)Aca>Tca	p.T855S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	855					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						AAACTTCTTTACACTTTTAAA	0.303000													26	74					0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49877210	49877210	+	Missense_Mutation	SNP	T	T	G			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr3:49877210T>G	ENST00000331456.2	-	10	992	c.879A>C	c.(877-879)ttA>ttC	p.L293F	TRAIP_ENST00000469027.1_Missense_Mutation_p.L138F	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	293	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAAACCTCTCTAAAACCAGGC	0.542000											OREG0015574	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	63					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963355	54963355	+	Missense_Mutation	SNP	G	G	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr12:54963355G>C	ENST00000243052.3	+	5	872	c.436G>C	c.(436-438)Gtg>Ctg	p.V146L	PDE1B_ENST00000550620.1_Missense_Mutation_p.V126L|PDE1B_ENST00000538346.1_Missense_Mutation_p.V105L|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	146					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ATACACCTCTGTGGGCCCCAC	0.522000													30	74					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951945	119951945	+	Missense_Mutation	SNP	A	A	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr4:119951945A>T	ENST00000307142.4	+	4	2211	c.2015A>T	c.(2014-2016)gAg>gTg	p.E672V	SYNPO2_ENST00000429713.2_Missense_Mutation_p.E672V|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E672V	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	672						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCCGAGATGAGAGGATCTCA	0.537000													11	43					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100895209	100895209	+	Silent	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr6:100895209C>T	ENST00000369208.3	-	9	1715	c.933G>A	c.(931-933)gcG>gcA	p.A311A	SIM1_ENST00000262901.4_Silent_p.A311A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	311	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCACGATGGTCGCGTAGCTCT	0.587000													7	68					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49403168	49403168	+	Splice_Site	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr6:49403168C>T	ENST00000274813.3	-	12	2252		c.e12+1			NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase						fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATAAAAAATACCTGAGGTGGT	0.373000													12	46					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72971627	72971627	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr8:72971627C>A	ENST00000262209.4	-	8	1198	c.991G>T	c.(991-993)Gtg>Ttg	p.V331L		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	331						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)	ATAGTTACCACTGAAATTAAA	0.229000													16	20					1.15919e-05	1.25912e-05	1	1	0
SLC30A10	55532	broad.mit.edu	37	1	220091644	220091644	+	Missense_Mutation	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:220091644G>A	ENST00000366926.3	-	3	1072	c.911C>T	c.(910-912)gCc>gTc	p.A304V	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.A59V	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	304					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TAGCAGAATGGCAGCGGTCTC	0.463000													22	214					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42064965	42064965	+	Silent	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr7:42064965C>T	ENST00000395925.3	-	9	1338	c.1254G>A	c.(1252-1254)acG>acA	p.T418T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	418					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGACTCACTCGTGGGCTTGT	0.527000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				30	85					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107823921	107823921	+	Missense_Mutation	SNP	G	G	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:107823921G>C	ENST00000328300.6	+	15	1088	c.844G>C	c.(844-846)Ggt>Cgt	p.G282R	COL4A5_ENST00000361603.2_Missense_Mutation_p.G282R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	282	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGGTCCCCCAGGTGGTGAGAA	0.388000									Alport syndrome with Diffuse Leiomyomatosis				17	155					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71003982	71003982	+	Missense_Mutation	SNP	A	A	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr6:71003982A>T	ENST00000357250.6	-	5	742	c.584T>A	c.(583-585)tTt>tAt	p.F195Y	COL9A1_ENST00000370496.3_Missense_Mutation_p.F195Y	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	195	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						GCAGTCAACAAAAAGAGTAGC	0.438000													63	149					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14341061	14341061	+	Silent	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr16:14341061C>T	ENST00000571589.1	+	12	2116	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	MKL2_ENST00000574045.1_Silent_p.S648S|MKL2_ENST00000341243.5_Silent_p.S637S|MKL2_ENST00000318282.5_Silent_p.S648S	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	637					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGACTGCTCCAGCTCCAGGC	0.587000													43	59					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10058826	10058826	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:10058826G>T	ENST00000380861.4	+	6	784	c.393G>T	c.(391-393)atG>atT	p.M131I	WWC3_ENST00000454666.1_Missense_Mutation_p.M131I	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	131										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ATCGGAAGATGTCAAGTACTC	0.443000													33	67					1.56442e-22	2.31902e-22	1	1	0
SP4	6671	broad.mit.edu	37	7	21469830	21469830	+	Silent	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr7:21469830C>T	ENST00000222584.3	+	3	1265	c.1047C>T	c.(1045-1047)agC>agT	p.S349S		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	349					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AGTATGCAAGCACATCAGCCA	0.498000													33	70					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167489118	167489118	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr5:167489118C>T	ENST00000519204.1	+	6	1118	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	TENM2_ENST00000403607.2_Missense_Mutation_p.R288W|TENM2_ENST00000518659.1_Missense_Mutation_p.R455W|TENM2_ENST00000520394.1_Missense_Mutation_p.R223W|TENM2_ENST00000545108.1_Missense_Mutation_p.R455W					teneurin transmembrane protein 2																		AGAAGTTGGTCGGCGGGTAAC	0.458000													12	63					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349783	233349783	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:233349783C>A	ENST00000304546.1	-	4	1084	c.874G>T	c.(874-876)Gtg>Ttg	p.V292L	ECEL1_ENST00000409941.1_Missense_Mutation_p.V292L	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	292					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCCATGAACACCCTGTATGCT	0.647000													13	47					9.31168e-06	1.01582e-05	1	1	0
SORCS1	114815	broad.mit.edu	37	10	108589332	108589332	+	Splice_Site	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr10:108589332C>A	ENST00000263054.6	-	3	733	c.726_splice	c.e3+1	p.K242_splice	SORCS1_ENST00000344440.6_Splice_Site_p.K242_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	242						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CATTTCTTACCTTACGCTTGT	0.383000													45	60					5.20006e-24	7.75394e-24	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554715	140554715	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr5:140554715C>A	ENST00000231137.3	+	1	2473	c.2299C>A	c.(2299-2301)Cca>Aca	p.P767T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		767					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			GTTTCTGAAACCAATTATCCC	0.488000													50	244					5.73435e-26	8.75792e-26	1	1	0
SGCZ	137868	broad.mit.edu	37	8	14412310	14412310	+	Silent	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr8:14412310C>A	ENST00000382080.1	-	2	880	c.165G>T	c.(163-165)ctG>ctT	p.L55L	SGCZ_ENST00000421524.2_Silent_p.L42L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	42					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TAACCAACAGCAGAAGGACAA	0.383000													47	74					4.44401e-20	6.39938e-20	1	1	0
ZNF75D	7626	broad.mit.edu	37	X	134425457	134425457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:134425457C>A	ENST00000370766.3	-	5	3346	c.637G>T	c.(637-639)Gag>Tag	p.E213*	ZNF75D_ENST00000370764.1_Intron|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	213					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTTTCTGCTCAGAAAGGGCT	0.418000													26	59					4.7796e-09	5.65474e-09	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141039448	141039448	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr5:141039448C>A	ENST00000239440.4	-	22	3230	c.3165G>T	c.(3163-3165)ttG>ttT	p.L1055F	ARAP3_ENST00000508305.1_Missense_Mutation_p.L886F|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.L717F	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1055	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						ACAGCAGAGCCAAGTTCCGCG	0.557000													3	5					0.000274275	0.000285609	1	1	0
TP63	8626	broad.mit.edu	37	3	189582051	189582051	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr3:189582051C>A	ENST00000264731.3	+	5	699	c.610C>A	c.(610-612)Caa>Aaa	p.Q204K	TP63_ENST00000437221.1_Missense_Mutation_p.Q110K|TP63_ENST00000449992.1_Missense_Mutation_p.Q25K|TP63_ENST00000440651.2_Missense_Mutation_p.Q204K|TP63_ENST00000418709.2_Missense_Mutation_p.Q204K|TP63_ENST00000392463.2_Missense_Mutation_p.Q110K|TP63_ENST00000354600.5_Missense_Mutation_p.Q110K|TP63_ENST00000382063.4_Missense_Mutation_p.Q119K|TP63_ENST00000392460.3_Missense_Mutation_p.Q204K|TP63_ENST00000392461.3_Missense_Mutation_p.Q110K|TP63_ENST00000320472.5_Missense_Mutation_p.Q204K|TP63_ENST00000456148.1_Missense_Mutation_p.Q110K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	204			Q -> L (in cervical cancer).		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)		ACTCTACTGCCAAATTGCAAA	0.483000										HNSCC(45;0.13)			77	166					1.43161e-34	2.34264e-34	1	1	0
VPS54	51542	broad.mit.edu	37	2	64139749	64139749	+	Silent	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:64139749C>A	ENST00000354504.3	-	16	2599	c.2010G>T	c.(2008-2010)gtG>gtT	p.V670V	VPS54_ENST00000409558.3_Silent_p.V811V|VPS54_ENST00000272322.4_Silent_p.V823V			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	823					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GAGCCCGGATCACAGGAATGT	0.348000													36	67					1.30998e-17	1.79411e-17	1	1	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044203	90044203	+	RNA	SNP	T	T	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:90044203T>A	ENST00000462693.1	+	0	154																											GGCCTCCATCTCCTTCAGGTC	0.512000													76	119					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885853	88885853	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr8:88885853G>T	ENST00000319675.3	-	1	443	c.347C>A	c.(346-348)cCg>cAg	p.P116Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	116										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGTTTTGTGCGGGTATACCCG	0.547000													38	52					8.16277e-20	1.16876e-19	1	1	0
URGCP	55665	broad.mit.edu	37	7	43917743	43917743	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr7:43917743C>A	ENST00000336086.6	-	4	3426	c.1190G>T	c.(1189-1191)cGg>cTg	p.R397L	RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.R397L|URGCP_ENST00000402306.3_Missense_Mutation_p.R431L|URGCP_ENST00000453200.1_Missense_Mutation_p.R440L|URGCP_ENST00000223341.7_Missense_Mutation_p.R397L|URGCP_ENST00000447717.3_Missense_Mutation_p.R397L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	440					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGGGTGCCCGCAGCACATT	0.577000													64	139					2.18419e-29	3.46174e-29	1	1	0
WDR66	144406	broad.mit.edu	37	12	122380855	122380855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr12:122380855G>T	ENST00000288912.4	+	7	2019	c.1165G>T	c.(1165-1167)Gaa>Taa	p.E389*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.E389*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	389							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ATGCACTCTCGAACTCCCCAC	0.532000													28	56					7.26314e-15	9.58278e-15	1	1	0
UGT2A3	79799	broad.mit.edu	37	4	69811034	69811034	+	Missense_Mutation	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr4:69811034G>A	ENST00000251566.4	-	2	884	c.854C>T	c.(853-855)gCt>gTt	p.A285V	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	285						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTAGGCAAAGCTTTGGCAGG	0.353000													13	57					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30026560	30026560	+	Silent	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr15:30026560G>A	ENST00000346128.6	-	12	1908	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	TJP1_ENST00000400011.2_Silent_p.I482I|TJP1_ENST00000545208.2_Silent_p.I478I|TJP1_ENST00000356107.6_Silent_p.I478I	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	478	PDZ 3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTTCTCTTATGATATTTGTAA	0.363000													15	59					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2453203	2453203	+	Missense_Mutation	SNP	A	A	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:2453203A>C	ENST00000378466.3	-	2	173	c.161T>G	c.(160-162)gTa>gGa	p.V54G	PANK4_ENST00000491212.1_5'UTR|PANK4_ENST00000435556.3_Missense_Mutation_p.V54G	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	54					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TTTGTGCTGTACCGTTGAATA	0.622000													60	94					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703117	27703117	+	Silent	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr10:27703117C>A	ENST00000438700.3	-	1	180	c.63G>T	c.(61-63)ccG>ccT	p.P21P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	21					spermatid development	integral to membrane	hedgehog receptor activity	p.P21P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGGCAGAGTCCGGTTTGGTGA	0.657000													14	112					1.49906e-05	1.60069e-05	1	1	0
GPR112	139378	broad.mit.edu	37	X	135431298	135431298	+	Silent	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:135431298C>A	ENST00000394143.1	+	6	5724	c.5433C>A	c.(5431-5433)gcC>gcA	p.A1811A	GPR112_ENST00000412101.1_Silent_p.A1606A|GPR112_ENST00000394141.1_Silent_p.A1606A|GPR112_ENST00000370652.1_Silent_p.A1811A|GPR112_ENST00000287534.4_Silent_p.A1748A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1811					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)					CAAACTATGCCACATCTTTGA	0.388000													128	254					5.64391e-42	9.60991e-42	1	1	0
RPS10P7	376693	broad.mit.edu	37	1	201489286	201489286	+	RNA	SNP	C	C	G	rs4310467	by1000genomes	TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:201489286C>G	ENST00000441932.1	+	0	1456				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1																						GCACCCGGAGCTGGCAGACAA	0.502000													4	42					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135910	55135910	+	Nonsense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr11:55135910C>A	ENST00000314706.3	+	1	551	c.551C>A	c.(550-552)tCa>tAa	p.S184*		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	184					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						TTTCTTCACTCATTGGTTCAA	0.428000													71	177					2.6465e-34	4.3027e-34	1	1	0
FIGN	55137	broad.mit.edu	37	2	164467270	164467270	+	Missense_Mutation	SNP	T	T	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:164467270T>C	ENST00000333129.3	-	3	1386	c.1072A>G	c.(1072-1074)Aac>Gac	p.N358D	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	358						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGATTTGTGTTTGAAATGCTG	0.438000													32	66					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31625517	31625517	+	Silent	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr20:31625517C>A	ENST00000349552.1	+	8	819	c.819C>A	c.(817-819)tcC>tcA	p.S273S		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	273						extracellular region	lipid binding										TGCAGAAGTCCTTTCATGTGA	0.532000													26	54					8.24728e-16	1.11737e-15	1	1	0
LRCH3	84859	broad.mit.edu	37	3	197562608	197562608	+	Missense_Mutation	SNP	A	A	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr3:197562608A>C	ENST00000438796.2	+	9	1210	c.1166A>C	c.(1165-1167)gAg>gCg	p.E389A	LRCH3_ENST00000425562.2_Missense_Mutation_p.E389A|LRCH3_ENST00000441090.2_Splice_Site_p.E263_splice|LRCH3_ENST00000414675.2_Splice_Site_p.E389_splice|LRCH3_ENST00000334859.4_Missense_Mutation_p.E389A|LRCH3_ENST00000536618.1_5'UTR			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	389	Poly-Glu.					extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GAGGAGGCCGAGGTGAGACAG	0.507000													46	76					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31187672	31187672	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:31187672G>T	ENST00000357033.4	-	74	10647	c.10441C>A	c.(10441-10443)Cag>Aag	p.Q3481K	DMD_ENST00000378680.2_Intron|DMD_ENST00000359836.1_Missense_Mutation_p.Q1008K|DMD_ENST00000343523.2_Intron|DMD_ENST00000361471.4_Missense_Mutation_p.Q400K|DMD_ENST00000378702.4_Missense_Mutation_p.Q413K|DMD_ENST00000378723.3_Missense_Mutation_p.Q413K|DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000378707.3_Missense_Mutation_p.Q1021K|DMD_ENST00000378677.2_Missense_Mutation_p.Q3477K|DMD_ENST00000541735.1_Intron|DMD_ENST00000474231.1_Missense_Mutation_p.Q1021K	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	3481	Binds to SNTB1.				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)				GGGGAGTCCTGGTTCAAACTT	0.448000													18	38					6.49762e-13	8.187e-13	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77616814	77616814	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr8:77616814C>T	ENST00000521891.2	+	2	939	c.491C>T	c.(490-492)gCg>gTg	p.A164V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A164V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A164V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A164V|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	164						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTTCTACAGCGATGTTCCTG	0.463000										HNSCC(33;0.089)			17	18					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185463645	185463645	+	Translation_Start_Site	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:185463645C>A	ENST00000302277.6	+	0	553					NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A							intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gcgcggggtgcgtggaagcgg	0.706000													12	13					5.50884e-06	6.03577e-06	1	1	0
SDCCAG8	10806	broad.mit.edu	37	1	243581331	243581331	+	Silent	SNP	A	A	G			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:243581331A>G	ENST00000366541.3	+	15	1924	c.1806A>G	c.(1804-1806)gaA>gaG	p.E602E	SDCCAG8_ENST00000343783.6_Silent_p.E457E|SDCCAG8_ENST00000355875.4_Silent_p.E559E	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	602	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TAAAGGAAGAATGCTGTACAT	0.343000													62	70					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225653864	225653864	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:225653864C>A	ENST00000409592.3	-	48	5430	c.5317G>T	c.(5317-5319)Gct>Tct	p.A1773S	DOCK10_ENST00000258390.7_Missense_Mutation_p.A1779S			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1779	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTCAAAAAAGCTGGCCATCCC	0.373000													7	30					1.06961e-07	1.22519e-07	1	1	0
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGGGCAGCTCGTGGTGAGGC	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	40					7.41945e-09	8.73692e-09	1	1	0
HCCS	3052	broad.mit.edu	37	X	11130219	11130219	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:11130219G>T	ENST00000321143.4	+	2	241	c.39G>T	c.(37-39)caG>caT	p.Q13H	HCCS_ENST00000380763.3_Missense_Mutation_p.Q13H|HCCS_ENST00000380762.4_Missense_Mutation_p.Q13H	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	13					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						TTGCAGTTCAGGCCTCAAATG	0.443000											OREG0019665	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	90					1.44317e-28	2.25887e-28	1	1	0
CDH13	1012	broad.mit.edu	37	16	83065729	83065729	+	Missense_Mutation	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr16:83065729G>A	ENST00000566620.1	+	3	562	c.272G>A	c.(271-273)gGc>gAc	p.G91D	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000431540.3_Missense_Mutation_p.G91D|CDH13_ENST00000268613.10_Missense_Mutation_p.G138D|CDH13_ENST00000428848.3_Missense_Mutation_p.G91D|CDH13_ENST00000446376.2_Missense_Mutation_p.G91D|CDH13_ENST00000565636.1_Missense_Mutation_p.G91D	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	91					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACTGCAGTGGGCAAAACTCTG	0.527000													12	32					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756338	248756338	+	Silent	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:248756338G>A	ENST00000330500.2	-	1	762	c.732C>T	c.(730-732)caC>caT	p.H244H		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H244Q(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			CCACTGTAATGTGGGAGGAGC	0.453000													25	84					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738524	135738524	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:135738524C>A	ENST00000375845.3	-	9	3817	c.3787G>T	c.(3787-3789)Ggg>Tgg	p.G1263W	MAP3K19_ENST00000392918.3_Missense_Mutation_p.G397W|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.G395W|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G1150W|MAP3K19_ENST00000315513.3_Missense_Mutation_p.G124W|MAP3K19_ENST00000375844.3_Missense_Mutation_p.G445W	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GGAGGCTTCCCTGTAGCCATC	0.507000													24	54					4.4004e-07	4.99505e-07	1	1	0
SLC18A1	6570	broad.mit.edu	37	8	20028934	20028934	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr8:20028934G>T	ENST00000440926.1	-	8	1266	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	SLC18A1_ENST00000437980.1_Missense_Mutation_p.L266M|SLC18A1_ENST00000265808.7_Missense_Mutation_p.L266M|SLC18A1_ENST00000524272.1_5'UTR|SLC18A1_ENST00000276373.5_Missense_Mutation_p.L266M|SLC18A1_ENST00000381608.4_Missense_Mutation_p.L266M|SLC18A1_ENST00000519026.1_Missense_Mutation_p.L266M	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	266					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AGTAGTGCCAGGAAGGCCAGG	0.517000													24	56					1.66031e-10	2.03105e-10	1	1	0
HTRA1	5654	broad.mit.edu	37	10	124266402	124266402	+	Splice_Site	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr10:124266402G>A	ENST00000368984.3	+	4	1100		c.e4+1			NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1						proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CATCATCAACGTGAGCCTCTG	0.597000													15	27					0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33693282	33693282	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr6:33693282C>T	ENST00000451316.1	-	6	1236	c.701G>A	c.(700-702)cGc>cAc	p.R234H	IP6K3_ENST00000293756.4_Missense_Mutation_p.R234H	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	234					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CCTCATGTGGCGGGCCTTCTT	0.617000													6	45					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114046	147114046	+	Missense_Mutation	SNP	G	G	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr3:147114046G>C	ENST00000383075.3	-	3	793	c.281C>G	c.(280-282)gCc>gGc	p.A94G	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.A94G|ZIC4_ENST00000525172.2_Missense_Mutation_p.A144G|ZIC4_ENST00000425731.3_Missense_Mutation_p.A132G|ZIC4_ENST00000473123.1_Missense_Mutation_p.A94G	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	94	Poly-Ala.					nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCCATGCAGGGCTGCGGCAGC	0.701000													14	22					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62595681	62595681	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr20:62595681C>T	ENST00000450537.1	-	7	1385	c.1325G>A	c.(1324-1326)gGg>gAg	p.G442E	ZNF512B_ENST00000217130.3_Missense_Mutation_p.G442E|ZNF512B_ENST00000369888.1_Missense_Mutation_p.G442E			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACCTTTGAGCCCAAAGGTCCC	0.582000													126	350					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151424354	151424354	+	Silent	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:151424354C>T	ENST00000370314.4	-	5	685	c.447G>A	c.(445-447)ccG>ccA	p.P149P	GABRA3_ENST00000535043.1_Silent_p.P149P|GABRA3_ENST00000370311.1_Silent_p.P149P	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	149					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGAAGGTGTCCGGTGTCCAGA	0.468000													42	314					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66201747	66201747	+	Silent	SNP	G	G	T	rs146343247		TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr4:66201747G>T	ENST00000273854.3	-	16	3355	c.2755C>A	c.(2755-2757)Cga>Aga	p.R919R	EPHA5_ENST00000511294.1_Silent_p.R920R|EPHA5_ENST00000432638.2_Silent_p.R756R|EPHA5_ENST00000354839.4_Silent_p.R897R	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	919	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.R919*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTGCTATTTCGCTCTTTCTGC	0.473000										TSP Lung(17;0.13)			35	67					3.6622e-26	5.62728e-26	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117059672	117059672	+	Silent	SNP	A	A	G			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr10:117059672A>G	ENST00000355044.3	+	16	2670	c.2544A>G	c.(2542-2544)gcA>gcG	p.A848A		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	848	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGTTTTGTGCATATCTGGAAA	0.438000													33	55					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292370	6292370	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr11:6292370C>A	ENST00000525462.1	+	4	1151	c.1148C>A	c.(1147-1149)cCg>cAg	p.P383Q	CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.P230Q|CCKBR_ENST00000334619.2_Missense_Mutation_p.P314Q			P32239	GASR_HUMAN	cholecystokinin B receptor	314					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTCCTGGGCCGGGATCCGGC	0.632000													38	67					9.62906e-15	1.26381e-14	1	1	0
RMND5A	64795	broad.mit.edu	37	2	86998696	86998696	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:86998696G>T	ENST00000283632.4	+	8	1468	c.973G>T	c.(973-975)Ggt>Tgt	p.G325C	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	325										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						AGTGGACCTTGGTAAAAAGTG	0.358000													24	44					2.89027e-11	3.57033e-11	1	1	0
RYR2	6262	broad.mit.edu	37	1	237893641	237893641	+	Silent	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:237893641G>A	ENST00000366574.2	+	77	11237	c.10920G>A	c.(10918-10920)ctG>ctA	p.L3640L	RYR2_ENST00000542537.1_Silent_p.L3624L|RYR2_ENST00000360064.6_Silent_p.L3638L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3640					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)			AAGATAAACTGATAGAAGATT	0.393000													17	21					0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47272965	47272965	+	Missense_Mutation	SNP	G	G	A	rs147394827	byFrequency	TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:47272965G>A	ENST00000377073.3	+	4	1579	c.1493G>A	c.(1492-1494)cGt>cAt	p.R498H		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	498					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGGTCCTGGCGTTGTACAATG	0.502000													18	156					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870060	151870060	+	Missense_Mutation	SNP	C	C	G			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:151870060C>G	ENST00000329342.5	+	3	975	c.750C>G	c.(748-750)ttC>ttG	p.F250L		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	250	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAATATTTCGTGCAGGAAA	0.537000													57	490					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72434380	72434380	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr10:72434380C>T	ENST00000373208.1	+	2	151	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R51C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	51					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTTTCGGGGACGCTTCCTCTC	0.577000													14	61					0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163387	163387	+	RNA	SNP	C	C	T	rs3008286	by1000genomes	TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr8:163387C>T	ENST00000606975.1	-	0	534																											CACAGCCTGTCTGATCTGGTG	0.468000													3	18					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148579953	148579953	+	Missense_Mutation	SNP	T	T	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr5:148579953T>C	ENST00000506113.1	+	4	892	c.410T>C	c.(409-411)aTg>aCg	p.M137T	RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.M137T|ABLIM3_ENST00000326685.7_Missense_Mutation_p.M137T|ABLIM3_ENST00000508983.1_Missense_Mutation_p.M137T|ABLIM3_ENST00000356541.3_Missense_Mutation_p.M137T|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.M137T			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	137	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCAGTCCATGGCCAGCAGT	0.557000													49	54					0	0	1	0	0
SPN	6693	broad.mit.edu	37	16	29675721	29675721	+	Silent	SNP	T	T	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr16:29675721T>C	ENST00000360121.3	+	2	764	c.672T>C	c.(670-672)tcT>tcC	p.S224S	AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Silent_p.S224S	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	224					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CCCAGGTCTCTAGCGTAAAAC	0.582000													70	103					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73346395	73346395	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr13:73346395C>A	ENST00000377767.4	-	10	1505	c.1405G>T	c.(1405-1407)Gac>Tac	p.D469Y	DIS3_ENST00000377780.4_Missense_Mutation_p.D439Y|DIS3_ENST00000545453.1_Missense_Mutation_p.D307Y	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	469					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TGCCTCAGGTCTTCTCGGTTT	0.363000										Multiple Myeloma(4;0.011)			20	22					3.62473e-10	4.3915e-10	1	1	0
MYH9	4627	broad.mit.edu	37	22	36681751	36681751	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr22:36681751C>A	ENST00000216181.5	-	37	5457	c.5227G>T	c.(5227-5229)Ggc>Tgc	p.G1743C	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1743					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						TCCGTGTTGCCCTgctcctcc	0.667000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	19					0.00198382	0.00204886	1	1	0
SCGB1C1	147199	broad.mit.edu	37	11	193101	193101	+	Translation_Start_Site	SNP	T	T	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr11:193101T>A	ENST00000342878.2	+	1	22	c.2T>A	c.(1-3)aTg>aAg	p.M1K	BET1L_ENST00000410108.1_Intron	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	1						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACTGCTGGCATGAAGGGGAGC	0.632000													14	50					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62893976	62893976	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:62893976C>A	ENST00000253401.6	-	6	1666	c.866G>T	c.(865-867)cGa>cTa	p.R289L	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R187L|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.R60L|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R268L|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R236L|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R287L|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	289					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTCTAAACGTCGCTTGCGTTC	0.458000													66	126					9.4991e-31	1.5247e-30	1	1	0
CD28	940	broad.mit.edu	37	2	204591706	204591706	+	Missense_Mutation	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:204591706G>A	ENST00000374481.3	+	3	373	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	CD28_ENST00000374478.4_Intron|CD28_ENST00000324106.7_Missense_Mutation_p.V135M|CD28_ENST00000458610.2_Missense_Mutation_p.V149M			P10747	CD28_HUMAN	CD28 molecule	135	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CATTATCCATGTGAAAGGTAA	0.378000													5	77					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107491536	107491536	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr3:107491536C>T	ENST00000415149.2	+	11	1295	c.968C>T	c.(967-969)tCc>tTc	p.S323F	BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.S323F|BBX_ENST00000325805.8_Missense_Mutation_p.S323F|BBX_ENST00000402543.1_Missense_Mutation_p.S323F	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GCAAAAGAATCCGATGGTGGA	0.348000													23	50					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306789	41306789	+	Silent	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr20:41306789C>A	ENST00000373198.3	-	7	1105	c.870G>T	c.(868-870)acG>acT	p.T290T	PTPRT_ENST00000373193.3_Silent_p.T290T|PTPRT_ENST00000373187.1_Silent_p.T290T|PTPRT_ENST00000356100.2_Silent_p.T290T|PTPRT_ENST00000373184.1_Silent_p.T290T|PTPRT_ENST00000373201.1_Silent_p.T290T|PTPRT_ENST00000373190.1_Silent_p.T290T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	290	Fibronectin type-III 1.				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	p.T290T(1)		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)				GAGCAATGGGCGTGGGAGGCT	0.517000													17	37					0.0383953	0.0388579	1	1	0
EPG5	57724	broad.mit.edu	37	18	43514841	43514841	+	Nonsense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr18:43514841C>A	ENST00000282041.5	-	11	2225	c.2191G>T	c.(2191-2193)Gag>Tag	p.E731*		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	731					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TTCTCGCTCTCCACCTGGTGC	0.587000													14	24					1.49906e-05	1.60069e-05	1	1	0
MAPK14	1432	broad.mit.edu	37	6	36075338	36075338	+	Missense_Mutation	SNP	T	T	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr6:36075338T>C	ENST00000310795.4	+	10	869	c.869T>C	c.(868-870)aTg>aCg	p.M290T	MAPK14_ENST00000229795.3_Silent_p.D316D|MAPK14_ENST00000229794.4_Silent_p.D316D|MAPK14_ENST00000468133.1_Silent_p.D239D			Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	0	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						ATCCTGATGATGAACCAGTGG	0.458000													75	78					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65420513	65420513	+	Nonsense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:65420513C>T	ENST00000519389.1	+	12	2337	c.2158C>T	c.(2158-2160)Cag>Tag	p.Q720*	HEPH_ENST00000336279.5_Nonsense_Mutation_p.Q399*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.Q669*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.Q666*|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Nonsense_Mutation_p.Q669*			Q9BQS7	HEPH_HUMAN	hephaestin	666					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAACACTGTGCAGCTTCAGGG	0.562000													18	64					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50303081	50303081	+	Silent	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr15:50303081C>A	ENST00000284509.6	-	7	537	c.396G>T	c.(394-396)gtG>gtT	p.V132V	ATP8B4_ENST00000559829.1_Silent_p.V132V|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	132					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGATGTCTCCCACTTTGACAT	0.259000													3	18					0.150653	0.151859	1	1	0
MROH9	80133	broad.mit.edu	37	1	170916688	170916688	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:170916688C>A	ENST00000367759.4	+	3	200	c.46C>A	c.(46-48)Caa>Aaa	p.Q16K	MROH9_ENST00000367758.3_Missense_Mutation_p.Q16K	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		CCAGATTCTGCAAGACAGTGT	0.368000													34	122					8.69298e-16	1.17146e-15	1	1	0
ACAN	176	broad.mit.edu	37	15	89398465	89398465	+	Missense_Mutation	SNP	T	T	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr15:89398465T>A	ENST00000439576.2	+	12	3023	c.2649T>A	c.(2647-2649)agT>agA	p.S883R	ACAN_ENST00000561243.1_Missense_Mutation_p.S883R|ACAN_ENST00000559004.1_Missense_Mutation_p.S883R|ACAN_ENST00000352105.7_Missense_Mutation_p.S883R	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	883					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TTGACTTCAGTGGGCAGCTGT	0.597000													15	32					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65887991	65887991	+	Silent	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr17:65887991G>T	ENST00000321892.4	+	7	2335	c.2274G>T	c.(2272-2274)ggG>ggT	p.G758G	BPTF_ENST00000306378.6_Silent_p.G632G|BPTF_ENST00000335221.5_Silent_p.G758G|BPTF_ENST00000424123.3_Silent_p.G619G			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	758					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			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)			AGTCCAACGGGGAGCTAAGTG	0.423000													21	33					2.37509e-13	3.03819e-13	1	1	0
OR2M4	26245	broad.mit.edu	37	1	248402960	248402960	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:248402960C>A	ENST00000306687.1	+	1	730	c.730C>A	c.(730-732)Cac>Aac	p.H244N		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGCTCCTCCCACCTGTCTGT	0.517000													42	87					5.2432e-18	7.22015e-18	1	1	0
FOXF1	2294	broad.mit.edu	37	16	86544433	86544433	+	Silent	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr16:86544433G>T	ENST00000262426.4	+	1	301	c.258G>T	c.(256-258)cgG>cgT	p.R86R		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	86					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CCTTCTTCCGGGGCTCCTACC	0.627000													89	77					7.7321e-48	1.3255e-47	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31323859	31323859	+	Silent	SNP	T	T	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr18:31323859T>C	ENST00000269197.5	+	12	4047	c.4047T>C	c.(4045-4047)aaT>aaC	p.N1349N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1349	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCGGAAACAATTTGCCAAACC	0.458000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	104	204					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554716	140554716	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr5:140554716C>A	ENST00000231137.3	+	1	2474	c.2300C>A	c.(2299-2301)cCa>cAa	p.P767Q		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		767					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			TTTCTGAAACCAATTATCCCC	0.488000													51	244					1.19451e-25	1.81336e-25	1	1	0
CCR3	1232	broad.mit.edu	37	3	46306673	46306673	+	Silent	SNP	T	T	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr3:46306673T>A	ENST00000357422.2	+	4	567	c.24T>A	c.(22-24)gtT>gtA	p.V8V	CCR3_ENST00000541018.1_Silent_p.V8V|CCR3_ENST00000395942.2_Silent_p.V8V|CCR3_ENST00000395940.2_Silent_p.V8V|CCR3_ENST00000545097.1_Silent_p.V29V			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	8					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TAGATACAGTTGAGACCTTTG	0.453000													8	42					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484591	43484591	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr7:43484591C>A	ENST00000395891.1	+	11	2425	c.1820C>A	c.(1819-1821)gCc>gAc	p.A607D	HECW1_ENST00000453890.1_Missense_Mutation_p.A607D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	607					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GACACGGTGGCCGCTGACCCG	0.706000													5	20					0.014758	0.0151179	1	1	0
IGHG1	3500	broad.mit.edu	37	14	106209352	106209352	+	RNA	SNP	A	A	T	rs149302877	by1000genomes	TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr14:106209352A>T	ENST00000390548.2	-	0	56																											CTGTGCCCCCAGAGGTGCTCT	0.662000													8	31					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128845077	128845077	+	Missense_Mutation	SNP	G	G	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr7:128845077G>C	ENST00000249373.3	+	3	851	c.571G>C	c.(571-573)Ggc>Cgc	p.G191R		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	191					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAACAGTTCAGGCCAGTGCGA	0.567000			Mis		skin basal cell								6	50					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47143562	47143562	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr16:47143562C>A	ENST00000562435.1	-	7	1099	c.715G>T	c.(715-717)Gtt>Ttt	p.V239F	NETO2_ENST00000303155.5_Missense_Mutation_p.V232F	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	239	CUB 2.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TAGACTGCAACGAAGTTTCTC	0.353000										HNSCC(25;0.065)			76	89					2.51111e-31	4.0564e-31	1	1	0
GALNT13	114805	broad.mit.edu	37	2	155252572	155252572	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:155252572C>T	ENST00000392825.3	+	10	1793	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	GALNT13_ENST00000409237.1_Missense_Mutation_p.P409L|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	409						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGTGTAAGCCCTTTTCTTGG	0.363000													15	41					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66766100	66766100	+	Missense_Mutation	SNP	T	T	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:66766100T>A	ENST00000374690.3	+	1	1636	c.1112T>A	c.(1111-1113)cTg>cAg	p.L371Q	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.L371Q|AR_ENST00000504326.1_Missense_Mutation_p.L371Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	369	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CCACTGGCTCTGGCCGGACCG	0.667000									Androgen Insensitivity Syndrome				22	31					0	0	1	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99512854	99512854	+	Silent	SNP	G	G	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr15:99512854G>C	ENST00000535714.1	-	4	814	c.9C>G	c.(7-9)acC>acG	p.T3T	PGPEP1L_ENST00000378919.6_Silent_p.T57T|RP11-654A16.3_ENST00000559468.1_RNA	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	57				P -> L (in Ref. 2; BC104743).	proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CCTTGGCGGCGGTGTCCATGC	0.617000													45	79					0	0	1	0	0
MIR17HG	407975	broad.mit.edu	37	13	92003447	92003447	+	RNA	SNP	A	A	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr13:92003447A>C	ENST00000384829.1	+	0	2					NR_029490.1																						GTTACTGAACACTGTTCTATG	0.423000													77	95					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212384	26212384	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:26212384G>T	ENST00000379034.1	+	2	570	c.421G>T	c.(421-423)Gat>Tat	p.D141Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	141	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						CACTTCCCATGATGTCTCCGT	0.537000													90	148					1.02218e-41	1.72879e-41	1	1	0
PCDHB10	56126	broad.mit.edu	37	5	140574146	140574146	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr5:140574146C>A	ENST00000239446.4	+	1	2205	c.2021C>A	c.(2020-2022)cCg>cAg	p.P674Q		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		674					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)			CTGCCTCTCCCGGAGGCGGCC	0.687000													117	47					3.0473e-41	5.11946e-41	1	1	0
PAX4	5078	broad.mit.edu	37	7	127251160	127251160	+	Silent	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr7:127251160G>A	ENST00000341640.2	-	9	1195	c.990C>T	c.(988-990)gcC>gcT	p.A330A	PAX4_ENST00000338516.3_3'UTR|PAX4_ENST00000463946.1_Silent_p.A328A|PAX4_ENST00000378740.2_Intron	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	0	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCAGAGCAGGGCCTGAGAGC	0.577000													5	7					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138612974	138612974	+	Silent	SNP	C	C	A	rs147215827	byFrequency	TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:138612974C>A	ENST00000218099.2	+	1	58	c.51C>A	c.(49-51)atC>atA	p.I17I	F9_ENST00000394090.2_Silent_p.I17I|F9_ENST00000479617.1_3'UTR	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	17			I -> N (in HEMB; severe; UK 22).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TCATCACCATCTGCCTTTTAG	0.393000													101	142					4.9962e-64	8.62358e-64	1	1	0
CYP2A13	1553	broad.mit.edu	37	19	41600311	41600311	+	Missense_Mutation	SNP	A	A	C	rs115698903	byFrequency	TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr19:41600311A>C	ENST00000330436.3	+	7	1135	c.1135A>C	c.(1135-1137)Aag>Cag	p.K379Q		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	379					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CAAGGACACCAAGTTTCGGGA	0.567000													6	68					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71724656	71724656	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr11:71724656C>A	ENST00000393695.3	-	15	4224	c.3893G>T	c.(3892-3894)cGg>cTg	p.R1298L	NUMA1_ENST00000358965.6_Missense_Mutation_p.R1298L|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1298					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGCCTCCTCCCGGAGGCTCTG	0.647000			T	RARA	APL								25	51					6.32553e-13	8.01022e-13	1	1	0
KCTD17	79734	broad.mit.edu	37	22	37458588	37458588	+	Missense_Mutation	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr22:37458588G>A	ENST00000403888.3	+	9	921	c.920G>A	c.(919-921)gGa>gAa	p.G307E	KCTD17_ENST00000402077.3_Missense_Mutation_p.G283E			Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	307	Pro-rich.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						GAGGCACCCGGATGTGAGGCC	0.592000													7	26					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685848	44685848	+	Silent	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr20:44685848G>T	ENST00000454036.1	+	25	3310	c.3234G>T	c.(3232-3234)cgG>cgT	p.R1078R	SLC12A5_ENST00000243964.3_Silent_p.R1055R	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1078					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGGCCGTGCGGCTGAACGAGG	0.607000													44	101					5.44703e-19	7.75509e-19	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50728156	50728156	+	Silent	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr22:50728156C>T	ENST00000449103.1	-	3	998	c.858G>A	c.(856-858)gcG>gcA	p.A286A	PLXNB2_ENST00000359337.4_Silent_p.A286A			O15031	PLXB2_HUMAN	plexin B2	286	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAGCCAGGCGCAGCCACGG	0.672000													18	31					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130833896	130833896	+	Missense_Mutation	SNP	A	A	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr12:130833896A>T	ENST00000245255.3	+	8	1119	c.847A>T	c.(847-849)Atg>Ttg	p.M283L		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	283	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTTGGATTTCATGTTCAACTT	0.373000													18	32					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55659073	55659073	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr11:55659073C>A	ENST00000449290.2	+	7	1416	c.1324C>A	c.(1324-1326)Cct>Act	p.P442T	TRIM51_ENST00000244891.3_Missense_Mutation_p.P299T	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	442	B30.2/SPRY.					intracellular	zinc ion binding										CTTCTCACCTCCTCTCAGGCC	0.448000													70	223					1.26778e-28	1.99675e-28	1	1	0
SLC2A9	56606	broad.mit.edu	37	4	9987363	9987363	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr4:9987363C>A	ENST00000506583.1	-	6	595	c.378G>T	c.(376-378)atG>atT	p.M126I	SLC2A9_ENST00000309065.3_Missense_Mutation_p.M126I|SLC2A9_ENST00000264784.3_Missense_Mutation_p.M155I			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	155					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GCGAGCAGGCCATCAGCAATG	0.498000													28	36					2.85442e-18	3.99618e-18	1	1	0
SLC52A2	79581	broad.mit.edu	37	8	145583505	145583505	+	Missense_Mutation	SNP	C	C	A	rs117500243	byFrequency	TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr8:145583505C>A	ENST00000532887.1	+	3	936	c.353C>A	c.(352-354)gCc>gAc	p.A118D	SLC52A2_ENST00000527078.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A30D|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A118D|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A118D			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	118						integral to plasma membrane	receptor activity|riboflavin transporter activity										TTAGCACTGGCCTTTGTGCTG	0.592000													6	138					0.217242	0.217242	1	1	0
RBM47	54502	broad.mit.edu	37	4	40434756	40434756	+	Missense_Mutation	SNP	T	T	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr4:40434756T>C	ENST00000319592.4	-	5	1956	c.1247A>G	c.(1246-1248)gAc>gGc	p.D416G	RBM47_ENST00000381795.6_Missense_Mutation_p.D416G|RBM47_ENST00000295971.7_Missense_Mutation_p.D485G|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381793.2_Missense_Mutation_p.D485G|RBM47_ENST00000514014.1_Missense_Mutation_p.D447G			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	442						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ACTGGCTGGGTCTGGCTGCAC	0.587000													14	26					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18825059	18825059	+	Silent	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr10:18825059G>T	ENST00000396576.2	+	11	1572	c.1071G>T	c.(1069-1071)ggG>ggT	p.G357G	CACNB2_ENST00000377329.4_Silent_p.G358G|CACNB2_ENST00000324631.7_Silent_p.G412G|CACNB2_ENST00000377331.2_Silent_p.G360G|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Silent_p.G388G|CACNB2_ENST00000282343.8_Silent_p.G384G|CACNB2_ENST00000377315.4_Silent_p.G364G|CACNB2_ENST00000377319.3_Silent_p.G319G|CACNB2_ENST00000377328.1_Silent_p.G162G	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	412					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AATCTCGAGGGAAATCTCAAG	0.358000													10	54					7.48243e-07	8.41773e-07	1	1	0
NOS1	4842	broad.mit.edu	37	12	117658021	117658021	+	Silent	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr12:117658021G>T	ENST00000317775.6	-	27	4714	c.4029C>A	c.(4027-4029)gcC>gcA	p.A1343A	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.A1377A	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1343					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)	GCTCCTTCAGGGCTCGGTACA	0.602000													67	172					2.72615e-36	4.54961e-36	1	1	0
SLX4	84464	broad.mit.edu	37	16	3640068	3640068	+	Silent	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr16:3640068G>A	ENST00000294008.3	-	12	4211	c.3571C>T	c.(3571-3573)Ctg>Ttg	p.L1191L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1191	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGGAAAACAGCTCACAGGAC	0.502000								Direct reversal of damage					30	262					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220154195	220154195	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:220154195C>A	ENST00000366923.3	-	25	3727	c.3458G>T	c.(3457-3459)tGg>tTg	p.W1153L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1153	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CTTGAATTCCCAACGCTGGAA	0.458000													13	27					4.36969e-10	5.26872e-10	1	1	0
PPP3R2	5535	broad.mit.edu	37	9	104357009	104357009	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr9:104357009G>T	ENST00000374806.1	-	1	274	c.204C>A	c.(202-204)gaC>gaA	p.D68E	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	65	EF-hand 2.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CTCCATCACCGTCGGTGTCGA	0.572000													50	38					1.89013e-27	2.9402e-27	1	1	0
SMPD3	55512	broad.mit.edu	37	16	68395558	68395558	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr16:68395558C>T	ENST00000219334.5	-	8	2417	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	SMPD3_ENST00000568373.1_Missense_Mutation_p.R588H|SMPD3_ENST00000563226.1_Missense_Mutation_p.R597H	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	605					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTAGTCGATGCGCCGGCCGTT	0.657000													8	155					0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136664575	136664575	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr3:136664575C>T	ENST00000469404.1	+	2	276	c.185C>T	c.(184-186)tCa>tTa	p.S62L	NCK1_ENST00000288986.2_Missense_Mutation_p.S126L|NCK1_ENST00000481752.1_Missense_Mutation_p.S126L	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	126					axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GATGAATTATCATTGATAAAG	0.448000													33	173					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97866097	97866097	+	Missense_Mutation	SNP	G	G	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:97866097G>C	ENST00000420699.2	+	45	3026	c.2782G>C	c.(2782-2784)Gag>Cag	p.E928Q	ANKRD36_ENST00000461153.2_Missense_Mutation_p.E928Q	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	928										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ACCATCCTTGGAGGTAATGAA	0.338000													5	56					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152671903	152671903	+	Silent	SNP	T	T	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr6:152671903T>A	ENST00000367255.5	-	71	12184	c.11583A>T	c.(11581-11583)tcA>tcT	p.S3861S	SYNE1_ENST00000265368.4_Silent_p.S3861S|SYNE1_ENST00000423061.1_Silent_p.S3846S|SYNE1_ENST00000341594.5_Silent_p.S3785S|SYNE1_ENST00000448038.1_Silent_p.S3846S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3861					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)		TTTGTTGAAGTGACTTGAATT	0.418000										HNSCC(10;0.0054)			70	154					0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84255752	84255752	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr15:84255752G>T	ENST00000324537.5	+	10	1158	c.666G>T	c.(664-666)caG>caT	p.Q222H	SH3GL3_ENST00000434347.1_Missense_Mutation_p.Q222H|SH3GL3_ENST00000535412.1_Missense_Mutation_p.Q214H|SH3GL3_ENST00000427482.2_Missense_Mutation_p.Q214H			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	214	BAR.|Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AAGTCAGCCAGTTGGCTGTGT	0.512000													11	12					1.08611e-07	1.23846e-07	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													3	25					0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80553719	80553719	+	Silent	SNP	A	A	G			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr8:80553719A>G	ENST00000220876.7	+	3	604	c.222A>G	c.(220-222)ccA>ccG	p.P74P	STMN2_ENST00000518491.1_Silent_p.P63P|STMN2_ENST00000518111.1_Silent_p.P74P	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	74	Regulatory/phosphorylation domain (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			TAGCTTCTCCAAAGAAGAAAG	0.468000													33	23					0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4836514	4836514	+	Missense_Mutation	SNP	G	G	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr17:4836514G>C	ENST00000329125.5	+	2	690	c.615G>C	c.(613-615)aaG>aaC	p.K205N		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	205										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CAATACCAAAGGGCTTTTTTG	0.522000													17	28					0	0	1	0	0
COA4	51287	broad.mit.edu	37	11	73584443	73584443	+	Missense_Mutation	SNP	T	T	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr11:73584443T>C	ENST00000541455.1	-	2	401	c.8A>G	c.(7-9)tAt>tGt	p.Y3C	COA4_ENST00000545127.1_Intron|COA4_ENST00000537289.1_Intron|COA4_ENST00000355693.4_Intron					cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)																		GGGGAGTCTATAGAACATTAA	0.468000													17	52					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4011187	4011187	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr7:4011187C>T	ENST00000404826.2	+	12	1943	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W	SDK1_ENST00000389531.3_Missense_Mutation_p.R602W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	602	Ig-like C2-type 6.				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)		ACATGACCCCCGGGTTTCACT	0.522000													12	15					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719187	140719187	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr5:140719187G>T	ENST00000394576.2	+	1	649	c.649G>T	c.(649-651)Ggg>Tgg	p.G217W	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTTCTGATGGGGGTGACCC	0.582000													56	46					1.86277e-20	2.6978e-20	1	1	0
FAM84A	151354	broad.mit.edu	37	2	14774438	14774438	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:14774438C>A	ENST00000295092.2	+	2	623	c.335C>A	c.(334-336)gCg>gAg	p.A112E	FAM84A_ENST00000331243.4_Missense_Mutation_p.A112E	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	112										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			AGCGTCTACGCGGTCACCGCG	0.697000													4	10					0.00024832	0.000260736	1	1	0
DGKB	1607	broad.mit.edu	37	7	14880861	14880861	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr7:14880861G>T	ENST00000403951.2	-	2	447	c.28C>A	c.(28-30)Ctc>Atc	p.L10I	DGKB_ENST00000444700.2_Missense_Mutation_p.L10I|DGKB_ENST00000258767.5_Missense_Mutation_p.L10I|DGKB_ENST00000402815.1_Missense_Mutation_p.L10I|DGKB_ENST00000406247.3_Missense_Mutation_p.L10I|DGKB_ENST00000407950.1_Missense_Mutation_p.L10I|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.L10I			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	10					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GAAGGGCTGAGGTGGGCCCAT	0.403000													11	9					0.000151284	0.000160184	1	1	0
KLB	152831	broad.mit.edu	37	4	39409225	39409225	+	Missense_Mutation	SNP	A	A	G			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr4:39409225A>G	ENST00000257408.4	+	1	753	c.656A>G	c.(655-657)aAt>aGt	p.N219S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	219	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GATATCTTCAATGACTATGCC	0.393000													6	136					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129096342	129096342	+	Silent	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr7:129096342C>T	ENST00000249344.2	+	9	937	c.897C>T	c.(895-897)ggC>ggT	p.G299G	STRIP2_ENST00000435494.2_Silent_p.G299G	NM_020704.2	NP_065755.1			striatin interacting protein 2																		CAGAATTGGGCCTGCCTCCAC	0.552000													16	99					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69961614	69961614	+	Silent	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr10:69961614C>T	ENST00000358913.5	+	18	4010	c.3522C>T	c.(3520-3522)atC>atT	p.I1174I	MYPN_ENST00000540630.1_Silent_p.I1174I|MYPN_ENST00000354393.2_Silent_p.I899I	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1174	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CACCTGTGATCCTGGAGAAAC	0.488000													20	86					0	0	1	0	0
CXorf38	159013	broad.mit.edu	37	X	40489998	40489998	+	Nonsense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:40489998C>A	ENST00000378426.1	-	5	1069	c.472G>T	c.(472-474)Gaa>Taa	p.E158*	CXorf38_ENST00000327877.5_Nonsense_Mutation_p.E277*|CXorf38_ENST00000440784.2_Nonsense_Mutation_p.E192*|CXorf38_ENST00000378421.1_Nonsense_Mutation_p.E158*			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	277										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						CTCAGAAATTCCTTCACCACT	0.393000													68	111					7.05995e-25	1.06533e-24	1	1	0
C1orf172	126695	broad.mit.edu	37	1	27278435	27278435	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:27278435C>A	ENST00000320567.5	-	2	525	c.437G>T	c.(436-438)cGg>cTg	p.R146L		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	146										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGCCATCCCGCCGGCTGGG	0.627000													6	40					0.217242	0.217242	1	1	0
LEFTY2	7044	broad.mit.edu	37	1	226127629	226127629	+	Silent	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:226127629C>T	ENST00000366820.5	-	2	672	c.324G>A	c.(322-324)ccG>ccA	p.P108P	LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Intron	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	108					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CGCTGTTGGGCGGCAGCCGCT	0.726000													10	30					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309060	248309060	+	Missense_Mutation	SNP	T	T	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:248309060T>C	ENST00000366476.1	+	1	611	c.611T>C	c.(610-612)aTa>aCa	p.I204T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATCTGCTGTATAGTAATGATT	0.428000													215	302					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165548190	165548190	+	Missense_Mutation	SNP	G	G	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr3:165548190G>C	ENST00000264381.3	-	2	798	c.632C>G	c.(631-633)gCa>gGa	p.A211G	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	211					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ACCAAAGGCTGCTATATTTTT	0.448000													50	87					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058348	11058348	+	RNA	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr21:11058348C>A	ENST00000470054.1	-	0	324									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)		GGAGAGAAATCTCTTTATAAA	0.343000													8	138					1.06961e-07	1.22519e-07	1	1	0
TRIM25	7706	broad.mit.edu	37	17	54990997	54990997	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr17:54990997G>T	ENST00000316881.4	-	1	402	c.353C>A	c.(352-354)aCg>aAg	p.T118K	TRIM25_ENST00000537230.1_Missense_Mutation_p.T118K	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	118					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CACCAAGCACGTCTTCACGGC	0.711000													10	31					0.000673444	0.000698386	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11584138	11584138	+	Missense_Mutation	SNP	G	G	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr17:11584138G>C	ENST00000262442.3	+	19	3743	c.3675G>C	c.(3673-3675)caG>caC	p.Q1225H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1225H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1225	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCTCCGCCAGAGGTGCACAG	0.532000													18	12					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490240	65490240	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr15:65490240C>A	ENST00000261883.4	-	9	2550	c.2384G>T	c.(2383-2385)cGc>cTc	p.R795L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	795					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACTGTCAAAGCGGCCCCAGGC	0.577000													46	56					1.23713e-20	1.81254e-20	1	1	0
NGF	4803	broad.mit.edu	37	1	115828696	115828696	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:115828696C>T	ENST00000369512.2	-	3	889	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	241					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GCAGGTCAGGCTCTTCTCACA	0.552000													28	81					0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27352734	27352734	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr2:27352734C>T	ENST00000316470.4	+	6	844	c.730C>T	c.(730-732)Cca>Tca	p.P244S		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	244						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGAAACCCCACTCAACTC	0.592000													17	40					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389805	158389805	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:158389805C>A	ENST00000314902.2	-	1	851	c.852G>T	c.(850-852)ttG>ttT	p.L284F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	284					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)					TTGGGTTGAACAATGGAGTTA	0.358000													36	61					3.62531e-18	5.04739e-18	1	1	0
TRERF1	55809	broad.mit.edu	37	6	42231086	42231086	+	Missense_Mutation	SNP	G	G	A	rs150412878		TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr6:42231086G>A	ENST00000541110.1	-	8	2424	c.1856C>T	c.(1855-1857)tCg>tTg	p.S619L	TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372922.4_Missense_Mutation_p.S619L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	619	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTCCGACATCGAGCTGGCTGG	0.657000													7	123					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14341060	14341060	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr16:14341060C>T	ENST00000571589.1	+	12	2115	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F	MKL2_ENST00000574045.1_Missense_Mutation_p.S648F|MKL2_ENST00000341243.5_Missense_Mutation_p.S637F|MKL2_ENST00000318282.5_Missense_Mutation_p.S648F	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	637					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGACTGCTCCAGCTCCAGG	0.587000													41	58					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012877	189012877	+	Missense_Mutation	SNP	G	G	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr4:189012877G>C	ENST00000512729.1	-	7	1188	c.814C>G	c.(814-816)Cac>Gac	p.H272D	TRIML2_ENST00000326754.3_Missense_Mutation_p.H297D	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	272	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)		GCAGAGCCGTGGTATATGCCC	0.607000													47	195					0	0	1	0	0
SPRYD7	57213	broad.mit.edu	37	13	50489242	50489242	+	Missense_Mutation	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr13:50489242G>A	ENST00000378195.2	-	4	685	c.431C>T	c.(430-432)cCa>cTa	p.P144L	SPRYD7_ENST00000361840.3_Missense_Mutation_p.P183L	NM_001127482.1	NP_001120954.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	183	B30.2/SPRY.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						AAAACCAGGTGGAGGCGTATG	0.284000													27	35					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50866136	50866136	+	Missense_Mutation	SNP	T	T	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr18:50866136T>A	ENST00000442544.2	+	15	2834	c.2218T>A	c.(2218-2220)Tgc>Agc	p.C740S	DCC_ENST00000581580.1_Missense_Mutation_p.C395S|DCC_ENST00000412726.1_Missense_Mutation_p.C588S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	740	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCAGACTAACTGCATCATCAT	0.468000													57	61					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137811326	137811326	+	Missense_Mutation	SNP	C	C	G			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr3:137811326C>G	ENST00000327532.2	-	5	1131	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	DZIP1L_ENST00000469243.1_Missense_Mutation_p.E257Q	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	257						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CACTCTTGCTCTTTCCATTTA	0.333000													38	121					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887154	9887154	+	Missense_Mutation	SNP	G	G	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr18:9887154G>C	ENST00000306084.6	+	2	877	c.678G>C	c.(676-678)aaG>aaC	p.K226N	TXNDC2_ENST00000357775.4_Missense_Mutation_p.K159N|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	226	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						ATATTGCCAAGACCTCAGTGA	0.562000													57	72					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52289394	52289394	+	Missense_Mutation	SNP	T	T	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr1:52289394T>A	ENST00000354831.7	-	9	1494	c.1305A>T	c.(1303-1305)agA>agT	p.R435S	NRD1_ENST00000352171.7_Missense_Mutation_p.R367S|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.R303S|NRD1_ENST00000544028.1_Missense_Mutation_p.R235S	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	366					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCCAGAATTCTCTCAATCTAG	0.333000													31	102					0	0	1	0	0
AFMID	125061	broad.mit.edu	37	17	76201206	76201206	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr17:76201206C>T	ENST00000409257.5	+	7	554	c.500C>T	c.(499-501)gCc>gTc	p.A167V	AFMID_ENST00000327898.5_Missense_Mutation_p.A167V|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000588800.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	167						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TCAGCCGGGGCCCACCTGGCT	0.612000													6	19					0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13729573	13729573	+	Missense_Mutation	SNP	T	T	G			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr11:13729573T>G	ENST00000354817.3	+	4	636	c.492T>G	c.(490-492)gaT>gaG	p.D164E		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	164					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						AGCATATTGATGAAGTAGTCT	0.378000													54	71					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62898343	62898343	+	Missense_Mutation	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:62898343C>A	ENST00000253401.6	-	5	1471	c.671G>T	c.(670-672)tGt>tTt	p.C224F	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.C122F|ARHGEF9_ENST00000433323.2_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.C203F|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.C171F|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.C222F|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	224	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CAAGAGGCGACAGGCCTCAAA	0.478000													23	14					1.10513e-12	1.37868e-12	1	1	0
SSTR1	6751	broad.mit.edu	37	14	38679639	38679639	+	Nonsense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr14:38679639G>T	ENST00000267377.2	+	3	1662	c.1045G>T	c.(1045-1047)Gag>Tag	p.E349*		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	349					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CGCCGCGGAGGAGCCGGTTGA	0.582000													58	66					1.1362e-29	1.81216e-29	1	1	0
BCO2	83875	broad.mit.edu	37	11	112088566	112088566	+	Missense_Mutation	SNP	A	A	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr11:112088566A>T	ENST00000357685.5	+	12	1844	c.1709A>T	c.(1708-1710)tAt>tTt	p.Y570F	BCO2_ENST00000526088.1_Missense_Mutation_p.Y530F|BCO2_ENST00000361053.4_Missense_Mutation_p.Y497F|BCO2_ENST00000393032.2_Missense_Mutation_p.Y536F|BCO2_ENST00000532593.1_Missense_Mutation_p.Y465F|BCO2_ENST00000438022.1_Missense_Mutation_p.Y536F|BCO2_ENST00000531169.1_Missense_Mutation_p.Y536F			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	570					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CAGATGCCTTATGGGTTCCAT	0.423000													11	49					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100963435	100963435	+	Silent	SNP	T	T	C			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr3:100963435T>C	ENST00000193391.7	-	13	1927	c.1740A>G	c.(1738-1740)ttA>ttG	p.L580L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	580					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGCTCACTTTTAATTGGTCTT	0.428000													73	116					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59210985	59210985	+	Missense_Mutation	SNP	G	G	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr11:59210985G>T	ENST00000302030.2	+	1	369	c.344G>T	c.(343-345)tGc>tTc	p.C115F		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTGTCTGAGTGCCTCCTCCTG	0.527000													87	181					4.85238e-36	8.04473e-36	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140984732	140984732	+	Silent	SNP	C	C	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:140984732C>A	ENST00000298296.1	+	7	1188	c.1188C>A	c.(1186-1188)ccC>ccA	p.P396P	MAGEC3_ENST00000443323.2_Silent_p.P18P|MAGEC3_ENST00000409007.1_Silent_p.P98P|MAGEC3_ENST00000544766.1_Silent_p.P98P|MAGEC3_ENST00000536088.1_Silent_p.P98P|MAGEC3_ENST00000483584.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	396	Pro-rich.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGATtcctccccagggtcctc	0.577000													9	13					0.000274275	0.000285609	1	1	0
ACSS1	84532	broad.mit.edu	37	20	25011639	25011639	+	Silent	SNP	A	A	G	rs60849220	by1000genomes	TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr20:25011639A>G	ENST00000537502.1	-	1	1669	c.138T>C	c.(136-138)ttT>ttC	p.F46F	ACSS1_ENST00000542618.1_Intron|ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000323482.4_Intron			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	0	Poly-Ala.				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAGGAGGGCCAAAATGCAGAG	0.517000													4	10					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977614	12977614	+	Missense_Mutation	SNP	G	G	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr3:12977614G>A	ENST00000273221.4	-	3	1160	c.944C>T	c.(943-945)cCt>cTt	p.P315L		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	315					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGGGGCAGAGGGGGCGACAG	0.682000													37	52					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166976306	166976306	+	Missense_Mutation	SNP	C	C	T			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr4:166976306C>T	ENST00000061240.2	+	13	2250	c.1603C>T	c.(1603-1605)Cgt>Tgt	p.R535C	TLL1_ENST00000507499.1_Missense_Mutation_p.R558C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	535	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTGATAGGGCGTTTCTGTGG	0.398000													51	55					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39329255	39329272	+	In_Frame_Del	DEL	CTTGGTCTTAGTGTTTTC	CTTGGTCTTAGTGTTTTC	-			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr4:39329255_39329272delCTTGGTCTTAGTGTTTTC	ENST00000381897.1	-	5	569_586	c.436_453delGAAAACACTAAGACCAAG	c.(436-453)del	p.ENTKTK146del	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_In_Frame_Del_p.ENTKTK146del	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	146					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.N147H(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAGGCTTATTCTTGGTCTTAGTGTTTTCTTCATTCTTT	0.353													8	23	---	---	---	---					
VCAN	1462	broad.mit.edu	37	5	82833844	82833845	+	Frame_Shift_Ins	INS	-	-	A			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr5:82833844_82833845insA	ENST00000265077.3	+	8	5587_5588	c.5022_5023insA	c.(5020-5025)agggatfs	p.D1675fs	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Frame_Shift_Ins_p.D688fs|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1675	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TAGACACTAGCAGGATAATCAC	0.391													103	103	---	---	---	---					
HRCT1	646962	broad.mit.edu	37	9	35906583	35906584	+	In_Frame_Ins	INS	-	-	CCACCA	rs112821450	by1000genomes	TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr9:35906583_35906584insCCACCA	ENST00000354323.2	+	1	395_396	c.299_300insCCACCA	c.(298-300)cca>cCCACCAca	p.100_101insTT		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	100	His-rich.					integral to membrane		p.L100H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						cctcaccacctccaccaccacc	0.668													3	5	---	---	---	---					
FOXD4L3	286380	broad.mit.edu	37	9	70918972	70918972	+	Frame_Shift_Del	DEL	C	C	-			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr9:70918972delC	ENST00000342833.2	+	1	1697	c.1105delC	c.(1105-1107)ccfs	p.P369fs		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	369						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CAGACCGCTGCCCCTTTGCTG	0.647													12	21	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65271136	65271137	+	RNA	DEL	AT	AT	-			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr11:65271136_65271137delAT	ENST00000534336.1	+	0	5904_5905					NR_002819.2																						TTTAAATAAAATAGTGTTTGTC	0.317													29	74	---	---	---	---					
FGD6	55785	broad.mit.edu	37	12	95602903	95602903	+	Frame_Shift_Del	DEL	A	A	-			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr12:95602903delA	ENST00000343958.4	-	2	2380	c.2157delT	c.(2155-2157)gcfs	p.A719fs	FGD6_ENST00000549499.1_Frame_Shift_Del_p.A719fs|FGD6_ENST00000546711.1_Frame_Shift_Del_p.A719fs	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	719					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			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CCAAAGACTCAGCTCTCAGAC	0.483													67	45	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25299376	25299376	+	RNA	DEL	A	A	-			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr15:25299376delA	ENST00000549804.2	+	0	98				SNORD116-2_ENST00000384274.1_RNA|SNHG14_ENST00000547292.1_RNA																							ATGAGTCCCCAAAAAAAACAT	0.493													7	254	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													2	4	---	---	---	---					
ZNF528-AS1	102724105	broad.mit.edu	37	19	52896073	52896074	+	RNA	DEL	TA	TA	-			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr19:52896073_52896074delTA	ENST00000601562.1	-	0	784																											GTGGAAGCTGTATATATATATA	0.460													3	6	---	---	---	---					
CD40	958	broad.mit.edu	37	20	44757644	44757645	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr20:44757644_44757645delAA	ENST00000372285.3	+	9	871_872	c.799_800delAA	c.(799-801)afs	p.K267fs	CD40_ENST00000372276.3_3'UTR|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	267					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	GGAGGATGGCAAAGAGAGTCGC	0.584									Immune Deficiency with Hyper-IgM				16	175	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr20:56099187delT	ENST00000426658.2	-	1	736	c.75delA	c.(73-75)aafs	p.K25fs	CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													7	697	---	---	---	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													7	676	---	---	---	---					
YY2	404281	broad.mit.edu	37	X	21875307	21875307	+	Frame_Shift_Del	DEL	G	G	-			TCGA-O1-A52J-01A-11D-A25L-08	TCGA-O1-A52J-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	A1B08A71-C375-42F5-BE67-7F97388BC854	B8539521-624C-4D09-9F98-1629D07CA2D1	g.chrX:21875307delG	ENST00000429584.2	+	1	1203	c.705delG	c.(703-705)ctfs	p.L235fs	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CTAAACAGCTGGCAGAATTTA	0.483													75	583	---	---	---	---					
